Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SPTB_chr14_64741283_64884907	64765041	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 HG02622.hp2 HG03209.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0010 a0002c0023t0010	a0002c0023t0010g0030 a0002c0023t0010g0106 a0002c0023t0010g0030 a0002c0023t0010g0106	2	268	0.0075	16	c.634 others(35): Show c.6345+1684_6345+1685insGCACACACACACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92050811	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18973.hp1 NA19056.hp1 NA18943.hp1 NA18973.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0137	3	358	0.0084	16	c.781 others(31): Show c.781-760_781-745dupAAAAAAAAAAAAAAAA	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	8/14			chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77534588	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01167.hp2 others(11): Show HG00733.hp2 HG01123.hp1 HG01167.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp2 NA18968.hp2 NA19043.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 a0001c0001t0040 a0001c0002t0005 a0001c0002t0020 a0001c0005t0007 a0001c0010t0033	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0005g0074 others(11): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0005g0074 a0001c0001t0005g0176 a0001c0001t0005g0178 a0001c0001t0024g0220 a0001c0001t0040g0222 a0001c0002t0005g0076 a0001c0002t0005g0077 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0020g0002 a0001c0005t0007g0242 a0001c0010t0033g0049	14	246	0.0569	16	c.130 others(37): Show c.1304-13023_1304-13008dupGTGTGTGTGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534588	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG02145.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0017 a0001c0005t0038 a0001c0003t0017 a0001c0005t0038	a0001c0003t0017g0064 a0001c0005t0038g0139 a0001c0003t0017g0064 a0001c0005t0038g0139	2	246	0.0081	16	c.130 others(37): Show c.1304-13008_1304-13007insGTGTGTGTGTGTGTAT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591730	G G	GTATGTAT others(9): Show GTATGTATGTATGTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01099.hp2 others(33): Show HG00099.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp1 HG01981.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02965.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18954.hp1 NA18966.hp2 NA18981.hp1 NA18986.hp1 NA18995.hp2 NA19010.hp2 NA19066.hp1 NA19066.hp2 NA19087.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0039 a0001c0001t0045 a0001c0002t0003 a0001c0004t0004 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0046 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0003g0144 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0005g0128 a0001c0001t0005g0176 a0001c0001t0005g0180 a0001c0001t0006g0155 a0001c0001t0008g0173 a0001c0001t0009g0175 a0001c0001t0014g0132 a0001c0001t0015g0131 a0001c0001t0015g0150 a0001c0001t0026g0160 a0001c0001t0027g0136 a0001c0001t0030g0161 a0001c0001t0039g0101 a0001c0001t0045g0164 a0001c0002t0003g0032 a0001c0004t0004g0142 a0002c0007t0001g0156	36	246	0.1463	16	c.327 others(33): Show c.327+5455_327+5456insAATACATACATACATA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591730	G G	GTATGTAT others(9): Show GTATGTATGTATTTATT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG01109.hp1 others(11): Show HG00738.hp1 HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG02148.hp2 HG02257.hp1 HG02451.hp1 HG02735.hp2 HG02970.hp2 HG03098.hp2 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0043 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0037 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0006g0053 a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0043g0026 a0001c0002t0002g0025	14	246	0.0569	16	c.327 others(33): Show c.327+5455_327+5456insAATAAATACATACATA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591730	G G	GTATGTAT others(9): Show GTATGTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02922.hp1 HG02965.hp1 HG01081.hp2 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0021 a0001c0006t0018 a0001c0006t0022 a0001c0001t0021 a0001c0006t0018 a0001c0006t0022	a0001c0001t0021g0003 a0001c0006t0018g0075 a0001c0006t0022g0004 a0001c0001t0021g0003 a0001c0006t0018g0075 a0001c0006t0022g0004	3	246	0.0122	16	c.327 others(33): Show c.327+5455_327+5456insAATAAATAAATACATA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77606373	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03486.hp2 HG02572.hp1 HG02615.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0029 a0001c0002t0005 a0001c0002t0029	a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0029g0186 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0029g0186	3	246	0.0122	16	c.133 others(33): Show c.133-9009_133-8994dupCACACACACACACACA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	1/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0151 a0001c0005t0009g0151	1	292	0.0034	16	c.118 others(35): Show c.118-10885_118-10884insTATATATATATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	G G	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	344	0.0029	16	c.113 others(33): Show c.113-7831_113-7830insACACACACACACACCC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp1 HG02615.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0287 a0001c0001t0001g0102 a0001c0001t0001g0287	2	344	0.0058	16	c.113 others(33): Show c.113-7846_113-7831dupACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443171	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01928.hp2 others(7): Show HG00621.hp1 HG00735.hp2 HG01928.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG04228.hp1 NA18964.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0173 others(7): Show a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0074 a0001c0001t0002g0086	10	344	0.0291	16	c.113 others(33): Show c.113-7868_113-7867insAACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443171	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp1 NA18950.hp1 others(1): Show HG02015.hp2 HG02523.hp1 NA18950.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0062 others(1): Show a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0079	4	344	0.0116	16	c.113 others(33): Show c.113-7868_113-7867insAAAACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443355	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01433.hp1 NA20752.hp1 HG00423.hp1 HG01433.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0209 a0001c0001t0002g0037 a0001c0001t0003g0127 a0001c0001t0001g0209 a0001c0001t0002g0037 a0001c0001t0003g0127	3	344	0.0087	16	c.113 others(33): Show c.113-8067_113-8052dupACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp2 NA18956.hp1 HG02698.hp2 HG03017.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0167 a0001c0001t0001g0273 a0001c0001t0001g0135 a0001c0001t0001g0167 a0001c0001t0001g0273	3	344	0.0087	16	c.113 others(33): Show c.113-8218_113-8203dupACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369314	C C	CTTTCTTT others(9): Show CTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0185 a0001c0001t0004g0186	2	412	0.0049	16	c.-12 others(35): Show c.-126+2120_-126+2121insAAGAGAAAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(9): Show GACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03139.hp2 HG03486.hp1 HG02280.hp1 HG03139.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0003t0001 a0001c0001t0001 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0071 a0001c0001t0010g0203 a0001c0003t0001g0017 a0001c0001t0001g0071 a0001c0001t0010g0203 a0001c0003t0001g0017	3	378	0.0079	16	c.38 others(27): Show c.3888_*3889insACACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(9): Show CTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01934.hp1 HG02922.hp2 others(8): Show HG00621.hp1 HG01934.hp1 HG02922.hp2 HG03041.hp1 HG03490.hp1 HG03516.hp2 HG03834.hp2 NA18940.hp1 NA18973.hp1 NA19000.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0018 others(1): Show a0001c0001 a0001c0003 a0001c0018 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0018t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0074 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0003t0001g0258 a0001c0018t0001g0256 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0071 a0002c0002t0001g0219	11	340	0.0324	16	c.-92 others(25): Show c.-928_-927insTATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45661289	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01256.hp1 others(5): Show HG00140.hp2 HG01081.hp1 HG01256.hp1 HG02027.hp2 HG02155.hp1 HG02258.hp1 NA18949.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0052 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0184 a0001c0001t0001g0210 a0001c0001t0001g0211	8	340	0.0235	16	c.235 others(31): Show c.235-666_235-665insAAAAAAAAAAAAAAAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	2/9			chr15	TogoVar
SQOR_chr15_45630029_45696281	45661289	T T	TAGAAAAA others(9): Show TAGAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	340	0.0029	16	c.235 others(31): Show c.235-666_235-665insAGAAAAAAAAAAAAAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	2/9			chr15	TogoVar
SQOR_chr15_45630029_45696281	45667028	C C	CCCTCCCT others(9): Show CCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(49): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01256.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp1 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02735.hp2 HG02809.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03704.hp2 HG04115.hp2 NA18940.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp2 NA18994.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19055.hp2 NA19066.hp2 NA19083.hp1 NA19085.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0011	a0001c0001 a0003c0005 a0008c0012 others(1): Show a0001c0001 a0003c0005 a0008c0012 a0011c0010	a0001c0001t0001 a0003c0005t0001 a0008c0012t0001 others(1): Show a0001c0001t0001 a0003c0005t0001 a0008c0012t0001 a0011c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0027 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0309 a0003c0005t0001g0023 a0003c0005t0001g0290 a0003c0005t0001g0306 a0003c0005t0001g0307 a0008c0012t0001g0253 a0011c0010t0001g0283	52	340	0.1529	16	c.406 others(33): Show c.406-2897_406-2896insCCCTCCCTCCCTTCCT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45690119	C C	CCACCCAG others(9): Show CCACCCAGGCTGGAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(67): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG06807.hp2 NA18906.hp2 NA18944.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18970.hp2 NA18975.hp2 NA18993.hp1 NA19000.hp2 NA19006.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19081.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0009 a0010	a0001c0001 a0001c0003 a0001c0013 others(7): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0004 a0004c0006 a0005c0008 a0007c0011 a0009c0014 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0013t0001 a0002c0002t0001 a0002c0004t0001 a0004c0006t0004 a0005c0008t0001 a0007c0011t0004 a0009c0014t0001 a0010c0009t0001	a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0086 others(66): Show a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0208 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0288 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0107 a0001c0001t0002g0144 a0001c0001t0007g0316 a0001c0003t0001g0034 a0001c0003t0001g0079 a0001c0003t0001g0129 a0001c0003t0001g0139 a0001c0003t0001g0143 a0001c0003t0001g0150 a0001c0003t0001g0163 a0001c0003t0001g0172 a0001c0003t0001g0191 a0001c0003t0001g0233 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0282 a0001c0013t0001g0187 a0002c0002t0001g0176 a0002c0004t0001g0110 a0002c0004t0001g0247 a0002c0004t0001g0248 a0002c0004t0001g0249 a0002c0004t0001g0280 a0004c0006t0004g0319 a0004c0006t0004g0323 a0005c0008t0001g0231 a0005c0008t0001g0326 a0007c0011t0004g0325 a0009c0014t0001g0185 a0010c0009t0001g0120	70	340	0.2059	16	c.129 others(33): Show c.1296-853_1296-852insACCCAGGCTGGAGTGC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179834407	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG01243.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0143 a0001c0001t0001g0144	2	462	0.0043	16	c.116 others(33): Show c.1165+628_1165+629insATTTATTTATTTATTT	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179842699	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03540.hp2 HG03471.hp1 HG03540.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0026 a0001c0001 a0009c0026	a0001c0001t0001 a0009c0026t0006 a0001c0001t0001 a0009c0026t0006	a0001c0001t0001g0125 a0009c0026t0006g0132 a0001c0001t0001g0125 a0009c0026t0006g0132	2	462	0.0043	16	c.61 others(27): Show c.6106_*6107insAAAAAAAAAAAAAAAA	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4622		chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179843041	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01943.hp2 HG02559.hp1 HG00639.hp2 HG01943.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0005 a0001c0002t0002g0072 a0001c0002t0002g0095 a0001c0001t0001g0005 a0001c0002t0002g0072 a0001c0002t0002g0095	3	462	0.0065	16	c.64 others(27): Show c.6448_*6449insGAAGGAAGGAAGGAAG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4964		chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179843059	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	462	0.0022	16	c.64 others(27): Show c.6466_*6467insAGGAAGGAAGGAAGGG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4982		chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179843059	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02683.hp1 NA18967.hp1 others(2): Show HG01891.hp2 HG02683.hp1 NA18967.hp1 NA18973.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0059 a0001c0001t0001g0283 a0001c0001t0001g0337 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0283 a0001c0001t0001g0337 a0001c0001t0001g0381 a0001c0002t0002g0097	5	462	0.0108	16	c.64 others(27): Show c.6466_*6467insAGGAAGGAAGGGAGGG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4982		chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179843059	A A	AAGGAAGG others(9): Show AAGGAAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18947.hp1 NA19007.hp2 NA18945.hp2 NA18947.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0266 a0001c0001t0001g0005 a0001c0001t0001g0266	3	462	0.0065	16	c.64 others(27): Show c.6466_*6467insAGGAAGGGAGGGAGGG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4982		chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179843059	A A	AAGGGAGG others(9): Show AAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG03471.hp1 HG01169.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0125 a0001c0002t0002g0004 a0001c0001t0001g0125 a0001c0002t0002g0004	2	462	0.0043	16	c.64 others(27): Show c.6466_*6467insAGGGAGGGAGGGAGGG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4982		chr5	TogoVar
SRARP_chr1_15999236_16013807	15999548	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03579.hp1 HG06807.hp2 others(1): Show HG03130.hp2 HG03579.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0023 a0001c0004t0009 a0001c0004t0023	a0001c0004t0009g0014 a0001c0004t0023g0014 a0001c0004t0009g0014 a0001c0004t0023g0014	4	400	0.0100	16	c.-47 others(27): Show c.-4756_-4755insTTTATTTATTTATTTA	SRARP	ENSG00000183888.4	transcript	ENST00000329454.2	protein_coding		4687		chr1	TogoVar
SRBD1_chr2_45383680_45616267	45405754	A A	AAAAGAGT others(9): Show AAAAGAGTTAAGAATGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0005 a0001c0014 others(14): Show a0001c0001 a0001c0005 a0001c0014 a0002c0002 a0002c0004 a0003c0003 a0004c0019 a0004c0020 a0005c0006 a0006c0007 a0007c0015 a0008c0013 a0009c0021 a0010c0009 a0011c0011 a0012c0012 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0014t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0003c0003t0004 a0004c0019t0001 a0004c0020t0001 a0005c0006t0001 a0006c0007t0001 a0007c0015t0001 a0008c0013t0001 a0009c0021t0001 a0010c0009t0001 a0011c0011t0001 a0012c0012t0001 a0013c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0054 others(235): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0310 a0001c0001t0001g0321 a0001c0001t0001g0328 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0244 a0001c0005t0001g0139 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0014t0001g0178 a0002c0002t0001g0003 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0346 a0002c0004t0001g0076 a0002c0004t0001g0078 a0002c0004t0001g0079 a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0113 a0002c0004t0001g0115 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0217 a0002c0004t0001g0228 a0002c0004t0001g0232 a0003c0003t0001g0004 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0112 a0003c0003t0001g0114 a0003c0003t0001g0122 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0311 a0003c0003t0004g0298 a0004c0019t0001g0077 a0004c0020t0001g0082 a0005c0006t0001g0160 a0005c0006t0001g0161 a0006c0007t0001g0128 a0006c0007t0001g0135 a0007c0015t0001g0343 a0008c0013t0001g0342 a0009c0021t0001g0094 a0010c0009t0001g0108 a0011c0011t0001g0117 a0012c0012t0001g0162 a0013c0017t0001g0305	239	358	0.6676	16	c.251 others(35): Show c.2513+7359_2513+7360insCCATTCTTAACTCTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	19/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45428555	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0117 a0011c0011t0001g0117	1	358	0.0028	16	c.205 others(35): Show c.2050-8677_2050-8662dupATTTATTTATTTATTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45432003	G G	GTATTTAT others(9): Show GTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG01433.hp1 others(3): Show HG01192.hp1 HG01361.hp1 HG01433.hp1 HG02895.hp2 HG04204.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0173 others(3): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0173 a0001c0001t0001g0328 a0002c0002t0001g0012 a0002c0002t0001g0257	6	358	0.0168	16	c.205 others(37): Show c.2050-12125_2050-12110dupAATAAATAAATAAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45465046	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	358	0.0028	16	c.204 others(37): Show c.2049+11946_2049+11947insATGTGTGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45521286	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0094 a0009c0021t0001g0094	1	358	0.0028	16	c.187 others(37): Show c.1874+25430_1874+25445dupGTGTGTGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03017.hp2 HG02257.hp2 HG03017.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0249 a0003c0003t0001g0277 a0001c0001t0001g0249 a0003c0003t0001g0277	2	358	0.0056	16	c.130 others(35): Show c.1305+1674_1305+1689dupTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587092	T T	TTAAATTA others(9): Show TTAAATTATAAATATTA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	358	0.0028	16	c.649 others(33): Show c.649-1319_649-1318insTAATATTTATAATTTA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRCAP_chr16_30694171_30746409	30703149	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0026 a0001c0007t0006g0026	1	208	0.0048	16	c.55- others(29): Show c.55-911_55-896dupATATATATATATATAT	SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp2 others(32): Show HG00099.hp2 HG00408.hp2 HG00609.hp2 HG00639.hp2 HG01192.hp2 HG01243.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG02015.hp2 HG02074.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG04228.hp2 HG06807.hp2 NA18949.hp2 NA18953.hp1 NA18963.hp2 NA18970.hp1 NA19065.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0020 a0001c0028 a0002c0004 a0003c0031 a0003c0032 a0007c0027	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0026 a0001c0001t0042 a0001c0002t0016 a0001c0002t0041 a0001c0003t0008 a0001c0005t0007 a0001c0006t0011 a0001c0010t0001 a0001c0013t0044 a0001c0020t0001 a0001c0028t0001 a0002c0004t0032 a0003c0031t0001 a0003c0032t0015 a0007c0027t0021	a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 others(32): Show a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0104 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0232 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0014g0074 a0001c0001t0014g0079 a0001c0001t0026g0088 a0001c0001t0042g0078 a0001c0002t0016g0140 a0001c0002t0041g0196 a0001c0003t0008g0163 a0001c0003t0008g0180 a0001c0005t0007g0177 a0001c0006t0011g0083 a0001c0010t0001g0010 a0001c0010t0001g0011 a0001c0013t0044g0009 a0001c0020t0001g0067 a0001c0028t0001g0013 a0002c0004t0032g0235 a0003c0031t0001g0031 a0003c0032t0015g0089 a0007c0027t0021g0007	35	261	0.1341	16	c.345 others(33): Show c.345+1329_345+1344dupGGAAGGAAGGAAGGAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRC_chr20_37341140_37411050	37359491	G G	GAGGGGCT others(9): Show GAGGGGCTAATCAAACT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	282	0.0036	16	c.-24 others(35): Show c.-246-5712_-246-5711insGGGGCTAATCAAACTA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(9): Show CATATATATATATATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG03927.hp2 HG04228.hp1 HG01361.hp2 HG03927.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0032 a0001c0001t0013 a0001c0001t0032	a0001c0001t0013g0159 a0001c0001t0013g0161 a0001c0001t0032g0284 a0001c0001t0013g0159 a0001c0001t0013g0161 a0001c0001t0032g0284	3	386	0.0078	16	c.91 others(23): Show c.91_*92insTCATATATATATATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31554924	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	386	0.0026	16	c.282 others(35): Show c.282-21174_282-21159dupACACACACACACACAC	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31559836	C C	CAACACAC others(9): Show CAACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0009g0154 a0001c0001t0009g0155	2	386	0.0052	16	c.281 others(35): Show c.281+20783_281+20784insTGTGTGTGTGTGTGTT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55370431	T T	TCACACAC others(9): Show TCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02622.hp1 NA18983.hp1 HG02559.hp1 HG02622.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0061 a0001c0001t0031 a0001c0001t0061	a0001c0001t0031g0072 a0001c0001t0031g0104 a0001c0001t0061g0151 a0001c0001t0031g0072 a0001c0001t0031g0104 a0001c0001t0061g0151	3	384	0.0078	16	c.36 others(25): Show c.367_*382dupCACACACACACACACA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	5/5	383	INFO_REALIGN_3_PRIME	chr4	TogoVar
SREBF2_chr22_41828105_41912305	41864223	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0077 a0002c0002t0002g0061 a0002c0002t0002g0077	2	336	0.0060	16	c.89- others(31): Show c.89-2584_89-2569dupTATATATATATATATA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1_chr5_66139300_66188615	66184223	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03654.hp2 HG02055.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0004g0128 a0001c0001t0001g0020 a0001c0001t0004g0128	2	386	0.0052	16	c.53 others(27): Show c.5355_*5356insTTTTTTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding		609		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(9): Show CACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18987.hp2 NA21309.hp2 NA18962.hp2 NA18987.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0112 a0001c0001t0001g0159 a0001c0001t0001g0056 a0001c0001t0001g0112 a0001c0001t0001g0159	3	228	0.0132	16	c.-28 others(25): Show c.-287_-286insACACACACACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	356	0.0028	16	c.116 others(33): Show c.1162+563_1162+578dupTTTTTTTTTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63842221	C C	CATTTTTT others(9): Show CATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03492.hp1 HG06807.hp1 others(1): Show HG03471.hp1 HG03492.hp1 HG06807.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0033 a0001c0002t0058 others(1): Show a0001c0001t0007 a0001c0002t0033 a0001c0002t0058 a0001c0002t0064	a0001c0001t0007g0039 a0001c0002t0033g0025 a0001c0002t0058g0040 others(1): Show a0001c0001t0007g0039 a0001c0002t0033g0025 a0001c0002t0058g0040 a0001c0002t0064g0049	4	170	0.0235	16	c.-25 others(27): Show c.-2596_-2595insATTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding		2478		chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63913480	T T	TATATATA others(9): Show TATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03654.hp2 HG01978.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0075 a0001c0002t0003 a0001c0001t0075 a0001c0002t0003	a0001c0001t0075g0072 a0001c0002t0003g0070 a0001c0001t0075g0072 a0001c0002t0003g0070	2	170	0.0118	16	c.67+ others(33): Show c.67+68608_67+68609insTATGGATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar

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