1	27	ENST00000381657	ATG/-	0	intron_variant,feature_truncation	0	0	0	0	0	0	2665	NULL	NULL	6:g.1082829_1082831delATG	ENST00000381657.1:c.-205+2600_-205+2602delATG	NULL		0		0	1
2	28	ENST00000381657	-/GCT	0	intron_variant,feature_truncation	0	0	0	0	0	0	4760	NULL	NULL	6:g.1084924_1084925insGCT	ENST00000381657.1:c.-205+4695_-205+4696insGCT	NULL		0		0	1
3	29	ENST00000381657	CCTG/-	1	intron_variant,feature_truncation	0	0	0	0	0	0	9667	NULL	NULL	6:g.1089831_1089834delCCTG	ENST00000381657.1:c.-205+9602_-205+9605delCCTG	NULL		0		0	1
4	30	ENST00000381657	-/CTTCTACC	0	intron_variant,feature_truncation	0	0	0	0	0	0	9793	NULL	NULL	6:g.1089957_1089958insCTTCTACC	ENST00000381657.1:c.-205+9728_-205+9729insCTTCTACC	NULL		0		0	0
5	31	ENST00000381657	GAA/-	1	intron_variant,feature_truncation	0	0	0	0	0	0	7983	NULL	NULL	6:g.1097196_1097198delGAA	ENST00000381657.1:c.-204-4108_-204-4106delGAA	NULL		0		0	1
49961554	23700396	ENST00000470094	C/G	0	missense_variant	17	17	16	16	6	6	15	TCT/TGT	S/C	13:g.32953992C>G	ENST00000470094.1:c.16C>G	ENSP00000434898.1:p.Ser6Cys	probably damaging	0.946	deleterious	0.02	1
49962251	23700402	ENST00000470094	C/G	0	missense_variant,NMD_transcript_variant	34	34	33	33	12	12	32	CAG/GAG	Q/E	13:g.32954009C>G	ENST00000470094.1:c.33C>G	ENSP00000434898.1:p.Gln12Glu	possibly damaging	0.591	deleterious	0	1
49962376	23700405	ENST00000470094	G/C	0	missense_variant,NMD_transcript_variant	40	40	39	39	14	14	38	GCA/CCA	A/P	13:g.32954015G>C	ENST00000470094.1:c.39G>C	ENSP00000434898.1:p.Ala14Pro	possibly damaging	0.534	deleterious	0.01	1
49962457	12945541	ENST00000470094	G/A	0	missense_variant,NMD_transcript_variant	43	43	42	42	15	15	41	GCG/ACG	A/T	13:g.32954018G>A	ENST00000470094.1:c.42G>A	ENSP00000434898.1:p.Ala15Thr	possibly damaging	0.786	deleterious	0.02	1
49962539	23700408	ENST00000470094	C/T	0	missense_variant,NMD_transcript_variant	44	44	43	43	15	15	42	GCG/GTG	A/V	13:g.32954019C>T	ENST00000470094.1:c.43C>T	ENSP00000434898.1:p.Ala15Val	benign	0.174	deleterious	0.02	1
49963647	23700414	ENST00000470094	A/G	0	missense_variant,NMD_transcript_variant	59	59	58	58	20	20	57	CAG/CGG	Q/R	13:g.32954034A>G	ENST00000470094.1:c.58A>G	ENSP00000434898.1:p.Gln20Arg	benign	0.014	tolerated	0.41	1
49963772	23700417	ENST00000470094	A/C	0	missense_variant,NMD_transcript_variant	62	62	61	61	21	21	60	TAT/TCT	Y/S	13:g.32954037A>C	ENST00000470094.1:c.61A>C	ENSP00000434898.1:p.Tyr21Ser	probably damaging	0.988	deleterious	0	1
49963781	23700417	ENST00000470094	A/G	0	missense_variant,NMD_transcript_variant	62	62	61	61	21	21	60	TAT/TGT	Y/C	13:g.32954037A>G	ENST00000470094.1:c.61A>G	ENSP00000434898.1:p.Tyr21Cys	probably damaging	0.994	deleterious	0	1
49963905	56190413	ENST00000470094	C/G	0	missense_variant,NMD_transcript_variant	64	64	63	63	22	22	62	CAA/GAA	Q/E	13:g.32954039C>G	ENST00000470094.1:c.63C>G	ENSP00000434898.1:p.Gln22Glu	benign	0.136	tolerated	0.21	1
49964088	54875652	ENST00000470094	A/T	0	missense_variant,NMD_transcript_variant	69	69	68	68	23	23	67	CAA/CAT	Q/H	13:g.32954044A>T	ENST00000470094.1:c.68A>T	ENSP00000434898.1:p.Gln23His	probably damaging	0.958	tolerated	0.07	1
38362444	1004334	ENST00000422420	A/T	0	downstream_gene_variant	0	0	0	0	0	0	3408	NULL	NULL	9:g.22124505A>T	NULL	NULL		0		0	1
331368049	5296660	ENST00000427020	T/A	0	non_coding_transcript_variant,intron_variant	0	0	0	0	0	0	8274	NULL	NULL	2:g.45183991T>A	ENST00000427020.4:n.255+5130A>T	NULL		0		0	0
92211034	21608359	ENST00000502692	G/A	0	synonymous_variant	1539	1539	1655	1655	513	513	3957	GCG/GCA	A	11:g.66326840G>A	ENST00000502692.1:c.1539G>A	ENST00000502692.1:c.1539G>A(p.=)	\N	\N	\N	\N	1
92227693	22266546	ENST00000502692	A/T	0	missense_variant	2696	2696	2812	2812	899	899	272	GAG/GTG	E/V	11:g.66330525A>T	ENST00000502692.1:c.2696A>T	ENSP00000422007.1:p.Glu899Val	probably damaging	0.999	\N	\N	1
92227478	22966778	ENST00000502692	G/T	0	stop_gained	2695	2695	2811	2811	899	899	273	GAG/TAG	E/*	11:g.66330524G>T	ENST00000502692.1:c.2695G>T	ENSP00000422007.1:p.Glu899Ter	\N	\N	\N	\N	1
92213502	1166730	ENST00000502692	G/A	0	missense_variant	1697	1697	1813	1813	566	566	3124	CGG/CAG	R/Q	11:g.66327673G>A	ENST00000502692.1:c.1697G>A	ENSP00000422007.1:p.Arg566Gln	benign	0	\N	\N	1
92215657	1242038	ENST00000502692	T/C	0	stop_lost	1858	1858	1974	1974	620	620	2702	TGA/CGA	*/R	11:g.66328095T>C	ENST00000502692.1:c.1858T>C	ENSP00000422007.1:p.Ter620ArgextTer?	\N	\N	\N	\N	1
92215273	1613615	ENST00000502692	A/G	0	synonymous_variant	1818	1818	1934	1934	606	606	2742	ACA/ACG	T	11:g.66328055A>G	ENST00000502692.1:c.1818A>G	ENST00000502692.1:c.1818A>G(p.=)	\N	\N	\N	\N	1
92218009	1613616	ENST00000502692	A/C	0	missense_variant	2033	2033	2149	2149	678	678	2056	GAG/GCG	E/A	11:g.66328741A>C	ENST00000502692.1:c.2033A>C	ENSP00000422007.1:p.Glu678Ala	probably damaging	0.949	\N	\N	1
92224237	363545	ENST00000502692	A/G	0	missense_variant	2456	2456	2572	2572	819	819	1065	CAG/CGG	Q/R	11:g.66329732A>G	ENST00000502692.1:c.2456A>G	ENSP00000422007.1:p.Gln819Arg	benign	0	\N	\N	1
92217901	424852	ENST00000502692	T/C	0	missense_variant	2011	2011	2127	2127	671	671	2078	TGT/CGT	C/R	11:g.66328719T>C	ENST00000502692.1:c.2011T>C	ENSP00000422007.1:p.Cys671Arg	benign	0	\N	\N	1
92216616	4806434	ENST00000502692	G/A	0	synonymous_variant	1962	1962	2078	2078	654	654	2598	CCG/CCA	P	11:g.66328199G>A	ENST00000502692.1:c.1962G>A	ENST00000502692.1:c.1962G>A(p.=)	\N	\N	\N	\N	1
938362444	1004334	ENST00000422420	A/T	0		0	0	0	0	0	0	3408	NULL	NULL	9:g.22124505A>T	NULL	NULL		0		0	1
