Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01993.hp2 HG01255.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0297 a0001c0001t0005g0291 a0001c0001t0005g0297	2	70	0.0286	26	c.231 others(45): Show c.231-12896_231-12895insGTACACACACACACACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0156 a0001c0001t0019g0156	1	49	0.0204	26	c.98+ others(43): Show c.98+36510_98+36511insATATATATTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19010.hp2 HG00673.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0160 a0001c0001t0003g0147 a0001c0001t0003g0160	2	50	0.0400	26	c.98+ others(43): Show c.98+36510_98+36511insATATATATATATTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0233 a0002c0002t0007g0233	1	49	0.0204	26	c.98+ others(43): Show c.98+36510_98+36511insATATATATATATATATTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP3_chr1_155250981_155267360	155252690	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 NA18747.hp1 NA19085.hp2 HG00642.hp1 NA18747.hp1 NA19085.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0003 a0006c0007t0001g0047 a0001c0001t0001g0003 a0006c0007t0001g0047	3	293	0.0102	26	c.35 others(37): Show c.3582_*3583insTATATATATATATATATATATATACA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3290		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	161	0.0062	26	c.35 others(37): Show c.3550_*3551insAAAAAATATATATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 NA18612.hp1 others(2): Show HG01884.hp2 HG02486.hp2 NA18612.hp1 NA18966.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0095 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0003t0001g0183	5	136	0.0368	26	c.-42 others(43): Show c.-42+1450_-42+1451insGTGTGTGTGTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990919	G G	GGGGGAGA others(19): Show GGGGGAGACTGGGGGAAGCAGGAAGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	368	0.0027	26	c.-48 others(37): Show c.-4803_-4802insGGGGAGACTGGGGGAAGCAGGAAGTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4643		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG02074.hp2 others(6): Show HG00323.hp1 HG01169.hp1 HG02074.hp2 HG02132.hp2 HG02257.hp2 HG03130.hp2 NA18522.hp2 NA18963.hp2 NA19056.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0011c0024	a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0003t0002 a0011c0024t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0002c0002t0002g0231 a0002c0002t0002g0259 a0002c0002t0002g0299 a0002c0003t0002g0186 a0002c0003t0002g0192 a0011c0024t0002g0284	9	84	0.1071	26	c.331 others(45): Show c.3311+5186_3311+5211dupTATATATATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428894	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0280 a0002c0002t0002g0280	1	308	0.0032	26	c.331 others(45): Show c.3311+5183_3311+5184insCATATATATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp1 HG01993.hp2 HG01175.hp1 HG01261.hp1 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0257 a0002c0002t0002g0286 a0002c0002t0002g0227 a0002c0002t0002g0257 a0002c0002t0002g0286	3	10	0.3000	26	c.295 others(47): Show c.2954+16119_2954+16144dupAAAAAAAAAAAAAAAAAAAAAAAA AA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACATA others(19): Show CACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0269 a0002c0002t0002g0269	1	24	0.0417	26	c.264 others(47): Show c.2645+13281_2645+13282insATATATATATATATATATATATGT GT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667650	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0294 a0002c0003t0002g0294	1	306	0.0033	26	c.250 others(45): Show c.2509-1862_2509-1861insGTTTTTTTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726124	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02280.hp1 HG03130.hp1 others(4): Show HG00597.hp2 HG02280.hp1 HG03130.hp1 HG03540.hp2 NA18948.hp1 NA19007.hp1 NA19240.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003 a0005c0009 a0006c0013	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0002c0003t0005 a0005c0009t0001 a0006c0013t0003	a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0004t0001g0129 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0004t0001g0129 a0001c0005t0001g0042 a0002c0003t0005g0195 a0005c0009t0001g0172 a0006c0013t0003g0124	7	51	0.1373	26	c.216 others(45): Show c.2165+2445_2165+2470dupATATATATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG00735.hp2 others(11): Show HG00558.hp2 HG00642.hp1 HG00735.hp2 HG01123.hp1 HG01192.hp2 HG01433.hp2 HG02004.hp1 HG02109.hp1 HG02602.hp1 HG02738.hp1 HG02896.hp2 HG03471.hp1 NA19058.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0001g0267 a0001c0001t0001g0268 others(11): Show a0001c0001t0001g0046 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0003g0269	14	40	0.3500	26	c.-99 others(43): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCART1_chr10_133448945_133474760	133460471	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0005 a0004c0043t0005	a0004c0043t0005g0165 a0004c0043t0005g0165	1	124	0.0081	26	c.196 others(43): Show c.1969+319_1969+320insATATATATATATATATATATATATAT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	42	0.0238	26	c.569 others(45): Show c.569+15707_569+15708insTATATATATAGAGAGAGAGAGAGAGA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG01515.hp1 others(5): Show HG00621.hp2 HG01123.hp1 HG01515.hp1 HG01517.hp1 NA18906.hp1 NA18961.hp1 NA18967.hp1 NA19062.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0005 a0001c0004 a0002c0001 a0003c0005	a0001c0004t0002 a0002c0001t0001 a0002c0001t0003 others(1): Show a0001c0004t0002 a0002c0001t0001 a0002c0001t0003 a0003c0005t0002	a0001c0004t0002g0109 a0001c0004t0002g0118 a0002c0001t0001g0303 others(5): Show a0001c0004t0002g0109 a0001c0004t0002g0118 a0002c0001t0001g0303 a0002c0001t0001g0308 a0002c0001t0001g0319 a0002c0001t0003g0132 a0002c0001t0003g0297 a0003c0005t0002g0017	8	109	0.0734	26	c.169 others(43): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD1_chr14_30617319_30740850	30625721	A A	ATACCTAT others(19): Show ATACCTATATAGGTATAGGTATATAGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0040 a0004c0008t0001g0040	1	233	0.0043	26	c.62- others(41): Show c.62-2486_62-2485insCCTATATAGGTATAGGTATATAGGTA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52959897	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp2 HG02155.hp1 others(4): Show HG02129.hp1 HG02129.hp2 HG02155.hp1 NA18963.hp1 NA18999.hp2 NA19007.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0005 a0001c0009 others(3): Show a0001c0003 a0001c0005 a0001c0009 a0002c0002 a0005c0011 a0005c0012	a0001c0003t0003 a0001c0005t0001 a0001c0009t0009 others(3): Show a0001c0003t0003 a0001c0005t0001 a0001c0009t0009 a0002c0002t0001 a0005c0011t0003 a0005c0012t0001	a0001c0003t0003g0140 a0001c0005t0001g0023 a0001c0005t0001g0024 others(4): Show a0001c0003t0003g0140 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0009t0009g0156 a0002c0002t0001g0102 a0005c0011t0003g0003 a0005c0012t0001g0004	7	102	0.0686	26	c.156 others(47): Show c.1562-39053_1562-39028dupGTGTGTGTGTGTGTGTGTGTGTGT GT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03834.hp1 NA18941.hp1 others(2): Show HG02698.hp2 HG03834.hp1 NA18941.hp1 NA19043.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0014 a0001c0001 a0001c0003 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0006c0014t0003	a0001c0001t0001g0042 a0001c0001t0001g0097 a0001c0001t0002g0139 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0097 a0001c0001t0002g0139 a0001c0003t0005g0100 a0006c0014t0003g0060	5	13	0.3846	26	c.156 others(45): Show c.1561+4940_1561+4941insATATATATATATATATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01243.hp2 others(3): Show HG00639.hp2 HG01081.hp1 HG01243.hp2 HG01255.hp2 HG02717.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0003g0053 others(3): Show a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0003g0053 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0121	6	88	0.0682	26	c.120 others(45): Show c.1207+3526_1207+3551dupTATATATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(19): Show CTGGTGAGGAGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG02965.hp1 others(2): Show HG01243.hp1 HG02922.hp1 HG02965.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0009 a0001c0004t0001g0001 a0001c0004t0001g0009	5	205	0.0244	26	c.16 others(37): Show c.1663_*1664insTGGTGAGGAGGACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1539		chr11	TogoVar
SCGB1C2_chr17_132569_144067	141484	C C	CTGGTGAG others(19): Show CTGGTGAGGAGGACATGGGGGGGAACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA19079.hp1 NA18995.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	72	0.0278	26	c.25 others(37): Show c.2542_*2543insTGGTGAGGAGGACATGGGGGGGAACT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2418		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141484	C C	CTGGTGAG others(19): Show CTGGTGAGGAGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(121): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0028	124	194	0.6392	26	c.25 others(37): Show c.2542_*2543insTGGTGAGGAGGACATGGGGGGGACCT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2418		chr17	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 HG03704.hp2 others(5): Show HG02055.hp1 HG02129.hp1 HG03704.hp2 NA18961.hp2 NA19002.hp2 NA19057.hp2 NA19064.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030	a0001c0001t0002g0216 a0001c0001t0008g0136 a0001c0001t0008g0140 others(5): Show a0001c0001t0002g0216 a0001c0001t0008g0136 a0001c0001t0008g0140 a0001c0001t0013g0111 a0001c0001t0013g0120 a0001c0001t0017g0208 a0001c0001t0020g0184 a0001c0001t0030g0258	8	29	0.2759	26	c.-20 others(49): Show c.-2031-12067_-2031-12066insATATATATATATATATATATAT ATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02965.hp1 HG02735.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0129 a0001c0001t0032 a0001c0001t0129	a0001c0001t0032g0337 a0001c0001t0129g0343 a0001c0001t0032g0337 a0001c0001t0129g0343	2	356	0.0056	26	c.-20 others(49): Show c.-2031-12091_-2031-12090insGTATATATATATATATATATAT ATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp2 others(73): Show HG00099.hp1 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19012.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19068.hp2 NA19082.hp1 NA19084.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(30): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0034 a0001c0001t0038 a0001c0001t0042 a0001c0001t0045 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0062 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0001t0075 a0001c0001t0077 a0001c0001t0084 a0001c0001t0107 a0001c0001t0109 a0001c0001t0113 a0001c0001t0114 a0001c0001t0134	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0039 others(71): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0005g0047 a0001c0001t0005g0050 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0072 a0001c0001t0006g0146 a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0143 a0001c0001t0008g0100 a0001c0001t0008g0136 a0001c0001t0008g0138 a0001c0001t0008g0140 a0001c0001t0009g0129 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0009g0205 a0001c0001t0010g0049 a0001c0001t0010g0064 a0001c0001t0010g0069 a0001c0001t0010g0090 a0001c0001t0012g0135 a0001c0001t0012g0148 a0001c0001t0016g0128 a0001c0001t0016g0147 a0001c0001t0019g0068 a0001c0001t0021g0142 a0001c0001t0034g0038 a0001c0001t0034g0057 a0001c0001t0038g0139 a0001c0001t0042g0266 a0001c0001t0045g0315 a0001c0001t0053g0041 a0001c0001t0055g0055 a0001c0001t0056g0056 a0001c0001t0058g0070 a0001c0001t0062g0044 a0001c0001t0065g0053 a0001c0001t0067g0094 a0001c0001t0068g0093 a0001c0001t0069g0096 a0001c0001t0073g0137 a0001c0001t0075g0141 a0001c0001t0077g0145 a0001c0001t0084g0144 a0001c0001t0107g0300 a0001c0001t0109g0267 a0001c0001t0113g0312 a0001c0001t0114g0314 a0001c0001t0134g0350	76	145	0.5241	26	c.-20 others(47): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTGTGTGT GT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(19): Show TACACACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02129.hp2 HG02165.hp2 others(3): Show HG01106.hp2 HG02129.hp2 HG02165.hp2 HG03927.hp2 HG04199.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0122 a0001c0001t0123 others(2): Show a0001c0001t0048 a0001c0001t0122 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126	a0001c0001t0048g0331 a0001c0001t0048g0333 a0001c0001t0122g0329 others(3): Show a0001c0001t0048g0331 a0001c0001t0048g0333 a0001c0001t0122g0329 a0001c0001t0123g0328 a0001c0001t0125g0330 a0001c0001t0126g0332	6	75	0.0800	26	c.-20 others(47): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGTATGTGT GT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	67	0.0149	26	c.64- others(43): Show c.64-96047_64-96046insAAAAAAAAAAAAAAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159735982	G G	GGTTATGC others(19): Show GGTTATGCATGGTTATGCACTTATGCA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	100	0.0100	26	c.64- others(43): Show c.64-28461_64-28460insGTTATGCATGGTTATGCACTTATGCA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159813449	G G	GAGCCCAG others(19): Show GAGCCCAGGAGGCAGGAGGATCTCCTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	100	0.0100	26	c.759 others(45): Show c.759+48322_759+48347dupGCAGGAGGATCTCCTAAGCCCAGGAG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159842997	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	80	0.0125	26	c.760 others(45): Show c.760-23163_760-23162insTTTTTTTTTTTTTTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02257.hp1 others(4): Show HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02965.hp2 NA19240.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0020 a0002c0002t0180 a0002c0003t0006 others(3): Show a0002c0002t0020 a0002c0002t0180 a0002c0003t0006 a0002c0003t0017 a0002c0003t0036 a0002c0003t0134	a0002c0002t0020g0244 a0002c0002t0180g0245 a0002c0003t0006g0234 others(3): Show a0002c0002t0020g0244 a0002c0002t0180g0245 a0002c0003t0006g0234 a0002c0003t0017g0233 a0002c0003t0036g0006 a0002c0003t0134g0237	7	172	0.0407	26	c.354 others(41): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0175 a0002c0002t0175	a0002c0002t0175g0251 a0002c0002t0175g0251	1	182	0.0055	26	c.48 others(37): Show c.4858_*4859insATATATATATATATATATATTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18965.hp1 HG03139.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0269 a0001c0001t0001g0206 a0001c0001t0001g0269	2	79	0.0253	26	c.687 others(43): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41087937	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA21309.hp1 NA19009.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0225 a0001c0001t0001g0162 a0001c0001t0001g0225	2	33	0.0606	26	c.746 others(45): Show c.746-12512_746-12487dupACACACACACACACACACACACACAC	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0057 a0001c0003t0007g0057	1	174	0.0057	26	c.-59 others(43): Show c.-59-5837_-59-5836insATATATATATTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	174	0.0057	26	c.-59 others(43): Show c.-59-5837_-59-5836insATATATATATATTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0034 a0002c0006t0009g0034	1	174	0.0057	26	c.-59 others(43): Show c.-59-5837_-59-5836insATATATATATATATATTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0009 a0001c0002t0010g0009	1	174	0.0057	26	c.-59 others(43): Show c.-59-5837_-59-5836insATATATATATATATATATATTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02258.hp2 HG02818.hp1 others(6): Show HG00438.hp2 HG02258.hp2 HG02818.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA19030.hp1 NA19057.hp2 NA19240.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0009 a0005c0011 others(1): Show a0004c0005 a0005c0009 a0005c0011 a0005c0013	a0004c0005t0001 a0005c0009t0002 a0005c0009t0003 others(2): Show a0004c0005t0001 a0005c0009t0002 a0005c0009t0003 a0005c0011t0001 a0005c0013t0001	a0004c0005t0001g0072 a0004c0005t0001g0170 a0004c0005t0001g0213 others(6): Show a0004c0005t0001g0072 a0004c0005t0001g0170 a0004c0005t0001g0213 a0005c0009t0002g0046 a0005c0009t0002g0106 a0005c0009t0003g0005 a0005c0011t0001g0089 a0005c0011t0001g0143 a0005c0013t0001g0062	9	285	0.0316	26	c.228 others(45): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(19): Show GTGTATATATATATGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01516.hp1 others(4): Show HG01099.hp2 HG01175.hp1 HG01516.hp1 HG02004.hp1 HG03017.hp1 NA18993.hp1 NA19081.hp1	a0002 a0002	a0002c0001 a0002c0015 a0002c0001 a0002c0015	a0002c0001t0001 a0002c0015t0001 a0002c0001t0001 a0002c0015t0001	a0002c0001t0001g0181 a0002c0001t0001g0200 a0002c0001t0001g0207 others(4): Show a0002c0001t0001g0181 a0002c0001t0001g0200 a0002c0001t0001g0207 a0002c0001t0001g0221 a0002c0001t0001g0237 a0002c0001t0001g0243 a0002c0015t0001g0180	7	181	0.0387	26	c.186 others(45): Show c.1868-3535_1868-3534insTATATACACACACATATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38929131	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0195 a0001c0002t0004g0195	1	256	0.0039	26	c.489 others(43): Show c.489-2201_489-2200insTGTGTGTGTGTGTGTGCGCGCGCGCG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02155.hp2 HG02683.hp2 HG01884.hp2 HG02155.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0009g0004 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0009g0004	3	133	0.0226	26	c.964 others(43): Show c.964+1105_964+1106insTATATATATATATATATATATATATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291575	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	317	0.0032	26	c.-51 others(43): Show c.-51-4173_-51-4172insCTCTCTCTCTCTCTCTCTCTCTCTCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118162086	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0029	1	357	0.0028	26	c.48 others(37): Show c.4800_*4801insCTCTCTCTCTCTCTCTCTCTCTCTCT	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		719		chr11	TogoVar
SCN3B_chr11_123624188_123659624	123625973	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18950.hp1 HG03942.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0127 a0001c0001t0001g0132	2	369	0.0054	26	c.78 others(37): Show c.7825_*7826insGATCTCTCTCTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3214		chr11	TogoVar
SCN5A_chr3_38543062_38654687	38555159	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03490.hp2 HG02145.hp2 HG03490.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0027 a0001c0001 a0003c0027	a0001c0001t0004 a0003c0027t0004 a0001c0001t0004 a0003c0027t0004	a0001c0001t0004g0288 a0003c0027t0004g0054 a0001c0001t0004g0288 a0003c0027t0004g0054	2	58	0.0345	26	c.454 others(43): Show c.4542+471_4542+496dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38585662	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(77): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19082.hp1 NA19083.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0012 others(3): Show a0001 a0002 a0012 a0017 a0018 a0022	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0050 a0002c0006 a0002c0007 a0002c0059 a0002c0061 a0002c0062 a0002c0064 a0002c0065 a0012c0037 a0017c0063 a0018c0057 a0022c0058	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0008t0002 a0001c0012t0001 a0001c0050t0003 a0002c0006t0003 a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0007t0017 a0002c0007t0024 a0002c0059t0002 a0002c0061t0001 a0002c0062t0008 a0002c0064t0001 a0002c0065t0002 a0012c0037t0002 a0017c0063t0001 a0018c0057t0001 a0022c0058t0002	a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0220 others(76): Show a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0220 a0001c0001t0002g0305 a0001c0001t0003g0053 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0175 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0223 a0001c0001t0003g0240 a0001c0001t0003g0304 a0001c0001t0004g0138 a0001c0001t0004g0146 a0001c0001t0004g0313 a0001c0001t0004g0329 a0001c0001t0005g0006 a0001c0001t0005g0066 a0001c0001t0006g0204 a0001c0001t0026g0171 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0196 a0001c0002t0001g0206 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0300 a0001c0003t0002g0068 a0001c0003t0002g0293 a0001c0003t0003g0071 a0001c0003t0003g0077 a0001c0003t0003g0079 a0001c0003t0003g0087 a0001c0003t0003g0096 a0001c0003t0003g0102 a0001c0003t0003g0103 a0001c0003t0003g0104 a0001c0003t0003g0105 a0001c0003t0003g0106 a0001c0003t0003g0290 a0001c0003t0003g0294 a0001c0003t0004g0080 a0001c0003t0004g0089 a0001c0003t0005g0291 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0090 a0001c0004t0001g0098 a0001c0004t0001g0116 a0001c0004t0001g0180 a0001c0004t0001g0184 a0001c0004t0001g0292 a0001c0008t0002g0135 a0001c0012t0001g0036 a0001c0050t0003g0283 a0002c0006t0003g0137 a0002c0007t0002g0012 a0002c0007t0002g0130 a0002c0007t0003g0047 a0002c0007t0003g0168 a0002c0007t0003g0238 a0002c0007t0003g0239 a0002c0007t0004g0164 a0002c0007t0004g0165 a0002c0007t0017g0155 a0002c0007t0024g0217 a0002c0059t0002g0034 a0002c0061t0001g0058 a0002c0062t0008g0014 a0002c0064t0001g0011 a0002c0065t0002g0131 a0012c0037t0002g0052 a0017c0063t0001g0176 a0018c0057t0001g0094 a0022c0058t0002g0311	80	97	0.8247	26	c.278 others(41): Show c.2787+28_2787+29insACACACACACACACACACACACACAC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	16/27			chr3	TogoVar

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