Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SIGIRR_chr11_400716_419999	414258	T T	TTCCCCTG others(161): Show TTCCCCTGCACCCTCTCCCCTGCACCCTCTCCTCTGCCTACCTTCCCCTG CACCCTCTCCCCTCCCCACCTTTCCCTGCACACCTTCCCCTGCACCCTCT CCCCTGCACCCTCTCCTCTGCCTACCTTCCCCTGCACCCTCTCCCCTCCC CACCTTTCCCTGCACCCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	242	0.0041	168	c.-15 others(185): Show c.-154+564_-154+565insGAGGGTGCAGGGAAAGGTGGGGAGGGGA GAGGGTGCAGGGGAAGGTAGGCAGAGGAGAGGGTGCAGGGGAGAGGGTGC AGGGGAAGGTGTGCAGGGAAAGGTGGGGAGGGGAGAGGGTGCAGGGGAAG GTAGGCAGAGGAGAGGGTGCAGGGGAGAGGGTGCAGGGGA	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704017	A A	ATATATAC others(161): Show ATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTATATATACATAGAAAATATA TGTACATATGTTTTCTATG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	300	0.0033	168	c.626 others(185): Show c.626+5484_626+5485insCACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTATATA TACATAGAAAATATATGTACATATGTTTTCTATGTATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A1_chr15_48201302_48309078	48270772	A A	ACTCTAAG others(161): Show ACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGTGTGTATAT ATATATATATATATATATATATATATATATATATATTTATACACACATAT ATATACATACACATATATATATACACACACACACAGAGTTTTGGAGTATA TAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	266	0.0038	168	c.240 others(187): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAG	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070432	G G	GCCCCAGT others(161): Show GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTAACGCAGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0018 a0001c0003t0017g0018	1	118	0.0085	168	c.224 others(187): Show c.2241+3200_2241+3201insGCTGCGTTAAGTGTGATGCCGTGTGC TGGGGGCTCACTGGGGGCTGCGTTAAGTGTGATGCCCGTGTGCTGGGGGC TCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGG GGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071615	C C	CAGCCCCC others(161): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCAC ACTTATGCAGCCCCCAGTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0037 a0002c0004t0001g0037	1	118	0.0085	168	c.224 others(187): Show c.2241+2017_2241+2018insCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGAT GCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGT GATGCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A2_chrX_74416493_74538916	74459229	C C	CATATATA others(161): Show CATATATATATATATATATATATATATACACACACACATACATATATATA TGTATATATCTGTATATATATGTGTGTATATATATATACATATATATATG TGTGTATATATATATACATATATATATGTGTGTGTATATATATATACATA TATATGTGTGTGTATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	235	0.0043	168	c.430 others(187): Show c.430+37178_430+37179insATATATATATACACACACACATACAT ATATATATGTATATATCTGTATATATATGTGTGTATATATATATACATAT ATATATGTGTGTATATATATATACATATATATATGTGTGTGTATATATAT ATACATATATATGTGTGTGTATATATATATATATATATATAT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(161): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGGAAGAAAGGAAGGAAGGAAG GAAGGAAGGAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0063 a0003c0006t0002g0063	1	304	0.0033	168	c.184 others(185): Show c.184-2020_184-2019insTTTCTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC28A1_chr15_84879662_84950798	84928551	T T	TTTCTTTC others(161): Show TTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0105 a0003c0005t0001g0105	1	396	0.0025	168	c.108 others(187): Show c.1083+4449_1083+4450insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A11_chr22_23852875_23891312	23854682	G G	GGGGGGGG others(161): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCT GGCCAGCCGCCCCATCCGGGAGGGAGGCGGGGGGGGGGGTCGGCCAGCCG CCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0223	1	415	0.0024	168	c.-33 others(179): Show c.-3318_-3317insGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGCGGGGGGG GGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	SLC2A11	ENSG00000133460.20	transcript	ENST00000316185.9	protein_coding		3192		chr22	TogoVar
SLC2A11_chr22_23852875_23891312	23855202	T T	TGGCCAGC others(161): Show TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGGA GGGAGGCGGGGGGGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG03239.hp1 HG02735.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0221 a0002c0002t0001g0222	2	415	0.0048	168	c.-27 others(179): Show c.-2798_-2797insGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGCGGGGGGGGGGTC	SLC2A11	ENSG00000133460.20	transcript	ENST00000316185.9	protein_coding		2672		chr22	TogoVar
SLC2A2_chr3_170991347_171031720	171013719	A A	AAAGGTGG others(161): Show AAAGGTGGGCTCAAATAGGAGAAAATCTAAAAAATAATCATTTGATATTC TGGTTTTATCTCCTCTTTATATAGGGTGGGAAATCCTAACAGCTGTAGTC CATTGCATGAATAAGTAAAATTTGAGGGTAAAGGAGTTCCACTGATGTTT TTAATCCAAAAAACCTAAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01070.hp2 others(57): Show HG00639.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA18983.hp2 NA19058.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0009 a0002c0005t0001	a0002c0003t0001g0050 a0002c0003t0001g0199 a0002c0003t0002g0005 others(27): Show a0002c0003t0001g0050 a0002c0003t0001g0199 a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0011 a0002c0003t0002g0013 a0002c0003t0002g0019 a0002c0003t0002g0049 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0188 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0194 a0002c0003t0002g0195 a0002c0003t0002g0196 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0206 a0002c0003t0004g0012 a0002c0003t0004g0193 a0002c0003t0009g0047 a0002c0005t0001g0020 a0002c0005t0001g0190	60	328	0.1829	168	c.371 others(183): Show c.371+582_371+749dupGTTAGGTTTTTTGGATTAAAAACATCAGTG GAACTCCTTTACCCTCAAATTTTACTTATTCATGCAATGGACTACAGCTG TTAGGATTTCCCACCCTATATAAAGAGGAGATAAAACCAGAATATCAAAT GATTATTTTTTAGATTTTCTCCTATTTGAGCCCACCTT	SLC2A2	ENSG00000163581.14	transcript	ENST00000314251.8	protein_coding	3/10			chr3	TogoVar
SLC2A5_chr1_9030106_9074635	9053317	A A	ATATATTT others(161): Show ATATATTTATATATATTATATATTTATATACTATATATATTTATATATAT TATATATTTATATATTATATATATTTATATATTATATATATTTATATATA TTATATATTTATATATTATATATATTTATATATATTATATATATTATATA TTTATATATTATATATATT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	336	0.0030	168	c.293 others(185): Show c.293+4130_293+4131insAATATATATAATATATAAATATATAATA TATATAATATATATAAATATATATAATATATAAATATATAATATATATAA ATATATATAATATATAAATATATATAATATATAAATATATAATATATATA AATATATATAGTATATAAATATATAATATATATAAATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC44A1_chr9_105239651_105402346	105351541	A A	AGAGAGGG others(161): Show AGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0074 a0001c0001t0023g0074	1	142	0.0070	168	c.500 others(185): Show c.500+3090_500+3091insGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	5/15			chr9	TogoVar
SLC45A4_chr8_141202174_141313288	141203228	G G	GGAAAGAG others(161): Show GGAAAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGA GGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGA GAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGAGACCGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0153 a0002c0001t0001g0153	1	188	0.0053	168	c.83 others(179): Show c.8343_*8344insTCCACGGTCTCCCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCCACGG TCTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCT CCCTCTCTCCACGGTCTCCCTCTCCCTCTCTTTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3945		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203242	A A	AGGGAGAC others(161): Show AGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGAG AGAGGGAGAGGGAGAGGGGAGACCGTGGAGAGAGAGAGAGGGAGAGAGAG AGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGACCGTGGAGAG AGAGAGAGAGAGGGATAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0187 a0001c0010t0003g0187	1	188	0.0053	168	c.83 others(179): Show c.8329_*8330insCCTATCCCTCTCTCTCTCTCTCTCCACGGTCTCC CTCTCTCTCTCTCTCTCTCTCTCTCTTCTCTCTCTCTCTCTCTCCCTCTC TCTCTCTCCACGGTCTCCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCCT CTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3931		chr8	TogoVar
SLC5A9_chr1_48217716_48253638	48244726	A A	ATATATAT others(161): Show ATATATATATATATATATATATATATATATATATATAAAATATATAATAT ATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAA ATTATATTTATATTATATATAAATTATATTTATATTGTATATAAATTATA TTTATATTATATATAAATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18984.hp2 HG00673.hp1 NA18984.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0076 a0006c0006t0002g0077 a0006c0006t0002g0076 a0006c0006t0002g0077	2	420	0.0048	168	c.183 others(187): Show c.1837+2110_1837+2111insTATATATATATATATATATATATATA TATATATATAAAATATATAATATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTGTATATAAATTATATTTATATTATATATAAATT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13			chr1	TogoVar
SLC8A1_chr2_40092270_40457090	40200234	A A	AAATATAT others(161): Show AAATATATATATATATATATAAATATATATATATATTTATATATATATAT AAATATATATATATATATAAATATATATATATTTATATATATATATAAAT ATATATATATTTATATATATATATATATATATATATTTATATATATATAT AAATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0048 a0001c0001t0175g0048	1	236	0.0042	168	c.180 others(189): Show c.1809-21742_1809-21741insAAAAAATATATATATATTTATATA TATATATAAATATATATATATATATATATATATAAATATATATATATTTA TATATATATATAAATATATATATATTTATATATATATATATATTTATATA TATATATAAATATATATATATATTTATATATATATATATATATT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLCO3A1_chr15_91848708_92170903	92143467	T T	TAATATAT others(161): Show TAATATATATATTATATATAATATATATAAAATATATATATTATATATAA AAAATATATATTATATAATATATATAAAATATATATATTATATATAAAAA ATATATATTATATAATATATATAAAATATATATATTATATAATATATATA TATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0077 a0001c0001t0018g0077	1	190	0.0053	168	c.151 others(187): Show c.1513-3515_1513-3514insTATATATATTATATATAATATATATA AAATATATATATTATATATAAAAAATATATATTATATAATATATATAAAA TATATATATTATATATAAAAAATATATATTATATAATATATATAAAATAT ATATATTATATAATATATATATATAATATATATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(161): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0320 a0001c0002t0007g0320	1	412	0.0024	168	c.-15 others(187): Show c.-154+7488_-154+7489insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMOC2_chr6_168436184_168672992	168615184	C C	CACCTACA others(161): Show CACCTACAGCCAGCACAGGGCCCCTTCATACTTACAGCCGGCACAGGGCC TCTTTACATCTACAGCCAGCACAGGGCCTCTTCACATCTACAGCCAGCAC AGGGTCTCTTCATACTTACAGCTGGCACAGGGCCTCTTTACATCTACAGC CAGCACAGGGCCTCTTCAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG03209.hp1 others(7): Show HG01884.hp1 HG01891.hp1 HG03209.hp1 NA18522.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18973.hp2 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0014	a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0111 others(7): Show a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0141 a0001c0001t0004g0129 a0001c0002t0002g0004 a0001c0002t0002g0013 a0001c0002t0002g0036 a0001c0002t0014g0005	10	180	0.0556	168	c.907 others(185): Show c.907+6966_907+6967insCCTTCATACTTACAGCCGGCACAGGGCC TCTTTACATCTACAGCCAGCACAGGGCCTCTTCACATCTACAGCCAGCAC AGGGTCTCTTCATACTTACAGCTGGCACAGGGCCTCTTTACATCTACAGC CAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245974869	C C	CAGGGAAA others(161): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0136 a0002c0005t0001g0136	1	150	0.0067	168	c.532 others(187): Show c.532-44933_532-44932insAGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGC CGGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTAGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976425	A A	AGCCCAGG others(161): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0136 a0002c0005t0001g0136	1	150	0.0067	168	c.532 others(187): Show c.532-46489_532-46488insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTGGGCTGGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976621	C C	CAGGGAAA others(161): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	150	0.0067	168	c.532 others(187): Show c.532-46685_532-46684insAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC CGGAGACGATGGCTTTCCCTGGGCTGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976641	A A	GGCCCAGG others(161): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	150	0.0067	168	c.532 others(187): Show c.532-46704_532-46703insGGAGACGATGGCTTTCCCTGGGCCGG AGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCCGGAG ACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCTGGAGAC GATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976765	T T	TAGGGAAA others(161): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGA AAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	150	0.0067	168	c.532 others(187): Show c.532-46829_532-46828insGGGCCGGAGACGATGGCTTTCCCTGG GCTGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC CGGAGACGATGGCTTTCCCTGGGCTGGAGACGATGGCTTTCCCTGGGCTG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976785	A A	AGCCTAGG others(161): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	150	0.0067	168	c.532 others(187): Show c.532-46849_532-46848insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCTAGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976809	A A	AGCCTAGG others(161): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	150	0.0067	168	c.532 others(187): Show c.532-46873_532-46872insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976813	T T	TAGGGAAA others(161): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	150	0.0067	168	c.532 others(187): Show c.532-46877_532-46876insGGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGC CGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCTA GAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976977	G G	GGCCCAGG others(161): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	150	0.0067	168	c.532 others(187): Show c.532-47041_532-47040insTAGAGACGATGGCTTTCCCTAGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246429758	T T	TTAACTCC others(161): Show TTAACTCCTGCCTCAAGGATATGACTGGCAAGTACTAAATAATCATACGA GAAACGGTAACTCCTGCCTCAAGGATATGACTGGCAAGTACTAAATAATC ATACGAGAAACGGTAACTCCTGCCTCAAGGATATGACTGGCAAGTACTAA ATAATCATACGAGAAACGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(49): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp2 NA19057.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0002c0003 a0002c0004 a0002c0005 a0003c0010 a0004c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0003c0010t0001 a0004c0013t0002 a0005c0015t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0062 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0002g0010 a0001c0002t0002g0037 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0006t0001g0048 a0001c0006t0001g0076 a0001c0011t0002g0049 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0103 a0002c0003t0001g0109 a0002c0003t0001g0112 a0002c0003t0001g0148 a0002c0003t0002g0104 a0002c0004t0001g0127 a0002c0005t0001g0136 a0002c0005t0002g0115 a0003c0010t0001g0031 a0004c0013t0002g0072 a0005c0015t0002g0094	52	150	0.3467	168	c.165 others(187): Show c.165-74832_165-74665dupCCGTTTCTCGTATGATTATTTAGTAC TTGCCAGTCATATCCTTGAGGCAGGAGTTACCGTTTCTCGTATGATTATT TAGTACTTGCCAGTCATATCCTTGAGGCAGGAGTTACCGTTTCTCGTATG ATTATTTAGTACTTGCCAGTCATATCCTTGAGGCAGGAGTTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNX6_chr14_34556093_34635148	34557533	T T	TTCTTCTT others(161): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	322	0.0031	168	c.55 others(179): Show c.5588_*5589insCGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3559		chr14	TogoVar
SOCS7_chr17_38346844_38410593	38389857	G G	GTGTGTAT others(161): Show GTGTGTATATATATATATATATGTACATATATATATATGTACATATATAT ATATGTACATATATATATGTACATATATATATATGTACATATATATATAT GTACATATATATATGTACATATATATATATGTACATATATATATATGTAC ATATATATATGTACATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0233 a0001c0001t0024g0233	1	289	0.0035	168	c.168 others(187): Show c.1682-5451_1682-5450insGTGTATATATATATATATATGTACAT ATATATATATGTACATATATATATATGTACATATATATATGTACATATAT ATATATGTACATATATATATATGTACATATATATATGTACATATATATAT ATGTACATATATATATATGTACATATATATATGTACATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389866	T T	TATATATA others(161): Show TATATATATATATATATATGTACATATATATATATGTACATATATATATA TATGTACATATATATATGTACATATATATATATATATGTACATATATATA TGTACATATATATATATGTACATATATATATATGTACATATATATATATG TACATATATATATATGTAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	289	0.0035	168	c.168 others(187): Show c.1682-5442_1682-5441insTATATATATATATATATGTACATATA TATATATGTACATATATATATATATGTACATATATATATGTACATATATA TATATATATGTACATATATATATGTACATATATATATATGTACATATATA TATATGTACATATATATATATGTACATATATATATATGTACA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(161): Show TTATATTTATATAATATATAAGATATATTTATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0149 a0001c0001t0043g0149	1	212	0.0047	168	c.481 others(185): Show c.481+8703_481+8704insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATAAATATATCTTATATATTATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(161): Show TTATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02257.hp2 HG02922.hp2 others(3): Show HG00735.hp1 HG02257.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0073 a0001c0001t0081 a0001c0002t0053	a0001c0001t0004g0210 a0001c0001t0007g0198 a0001c0001t0016g0199 others(3): Show a0001c0001t0004g0210 a0001c0001t0007g0198 a0001c0001t0016g0199 a0001c0001t0073g0189 a0001c0001t0081g0193 a0001c0002t0053g0095	6	212	0.0283	168	c.481 others(185): Show c.481+8536_481+8703dupTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837671	A A	ATATATTT others(161): Show ATATATTTATATTTATATAATATATAAGCTATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGCTATATTTAT ATTTATATAATATATAAGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	212	0.0047	168	c.481 others(185): Show c.481+8311_481+8312insGCTTATATATTATATAAATATAAATATA GCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATAGCTTATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837811	C C	CTATATTT others(161): Show CTATATTTATATTTATATAATATATAAGCTATATTTATATTTATATAATA TATAAGCTATATTTATATTTATATAATATATAAGCTATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	212	0.0047	168	c.481 others(185): Show c.481+8171_481+8172insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATAGCTTATATATTATATAAATATAAATATAGCTTATATATTATATA AATATAAATATAGCTTATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAA others(161): Show TTATATAATTATATAATATATTACGTAATATATTATATATAATTATATAA TATATTACGTAATATATTATATAATTATATAATATATTACGTAATATATT ATATAATTATATATAATATATTACGTAATATATTATATATAATTATATAA TATATTACGTAATATATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01928.hp2 NA18960.hp2 others(4): Show HG00408.hp2 HG01928.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA19007.hp1	a0001 a0015 a0001 a0015	a0001c0004 a0001c0005 a0001c0006 others(2): Show a0001c0004 a0001c0005 a0001c0006 a0001c0031 a0015c0028	a0001c0004t0001 a0001c0005t0005 a0001c0006t0009 others(3): Show a0001c0004t0001 a0001c0005t0005 a0001c0006t0009 a0001c0006t0010 a0001c0031t0001 a0015c0028t0027	a0001c0004t0001g0160 a0001c0005t0005g0044 a0001c0006t0009g0238 others(4): Show a0001c0004t0001g0160 a0001c0005t0005g0044 a0001c0006t0009g0238 a0001c0006t0010g0239 a0001c0006t0010g0240 a0001c0031t0001g0133 a0015c0028t0027g0329	7	356	0.0197	168	c.-11 others(189): Show c.-112+29033_-112+29034insTAATATATTACGTAATATATTATA TATAATTATATAATATATTACGTAATATATTATATAATTATATAATATAT TACGTAATATATTATATAATTATATATAATATATTACGTAATATATTATA TATAATTATATAATATATTACGTAATATATTATATATAATTATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE18_chr7_77045391_77067558	77061037	A A	ACAAGAGT others(161): Show ACAAGAGTGAGATTATCACGTGCAAGAGTGAGATTATCACGTGCAAGAGT GAGATTATCACGTGCAAGAGTGAGATTATCACGTGCAAGAGTGAGATTAT CACGTGCAAGAGTGAGATTATCACGTGCAAGAGTGAGATTATCACGTGCA AGAGTGAGATTATCACGTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	416	0.0024	168	c.-42 others(185): Show c.-421-105_-421-104insCACGTGATAATCTCACTCTTGCACGTGA TAATCTCACTCTTGCACGTGATAATCTCACTCTTGCACGTGATAATCTCA CTCTTGCACGTGATAATCTCACTCTTGCACGTGATAATCTCACTCTTGCA CGTGATAATCTCACTCTTGCACGTGATAATCTCACTCTTG	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTCCCC others(161): Show CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCC CTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCC CGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 NA20752.hp2 HG01261.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0072 a0001c0001t0002g0002 a0001c0001t0002g0072	2	418	0.0048	168	c.54 others(179): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(161): Show CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCC CTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCC CGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0019 a0001c0005t0003g0019	1	418	0.0024	168	c.54 others(179): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(161): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCC CTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCC CGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02818.hp2 others(3): Show HG01884.hp2 HG01891.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0039 a0001c0001t0003g0006 a0001c0001t0003g0039	6	418	0.0144	168	c.54 others(179): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462558	C C	CACCAGTC others(161): Show CACCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCATCCATCCA TCCACCCATCCACCAATCCATCCATCCACCAATCCATCCATCTACCCACC CACCAATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCA CCCATTCATCCACCAATCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0130 a0003c0008t0003g0130	1	362	0.0028	168	c.111 others(187): Show c.1113+9354_1113+9355insCCAGTCTATCAATCCATCTATCCATC CATCCACCAATCCATCCATCCATCCACCCATCCACCAATCCATCCATCCA CCAATCCATCCATCTACCCACCCACCAATCCATCCATCCATCCATCCATC CACCCACCCACCCACCCACCCACCCATTCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPRED2_chr2_65305851_65437599	65342188	A A	ATATACGT others(161): Show ATATACGTATATTATGTATGTATATTTTGTATACGTATATTATGTATGTA TATTTTGTATACGTATATTATGTATGTATATTTTGTATACGTATATTATG TATGTATATTTTGTATACGTATATTATGTATGTATATTTTGTATACGTAT ATTATGTATGTATATTTTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	276	0.0036	168	c.204 others(185): Show c.204+2363_204+2530dupCAAAATATACATACATAATATACGTATA CAAAATATACATACATAATATACGTATACAAAATATACATACATAATATA CGTATACAAAATATACATACATAATATACGTATACAAAATATACATACAT AATATACGTATACAAAATATACATACATAATATACGTATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPTB_chr14_64741283_64884907	64822372	T T	TCACACAC others(161): Show TCACACACACACACACACACACACACACACACACACACACACACACACAC ACACAGAGCAAGAGAGAGAGAGGGTGGGGGTGGAGAATATCTTAAATCTC TAGTAGAAATGGCTTCTCCTCCCTCTGCTGGCTGAGGTCTGGTTCTTGGG ATTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0014 a0001c0073t0014	a0001c0073t0014g0258 a0001c0073t0014g0258	1	268	0.0037	168	c.148 others(183): Show c.148+574_148+575insTGTGTGTGTGTGTGTGAATCCCAAGAACCA GACCTCAGCCAGCAGAGGGAGGAGAAGCCATTTCTACTAGAGATTTAAGA TATTCTCCACCCCCACCCTCTCTCTCTCTTGCTCTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64822372	T T	TCACACAC others(161): Show TCACACACACACACACACACACACACACACACACACACACACACACACAC ACAGAGCAAGAGAGAGAGAGGGTGGGGGTGGAGAATATCTTAAATCTCTA GTAGAAATGGCTTCTCCTCCCTCTGCTGGCTGAGGTCTGGTTCTTGGGAT TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA21309.hp1 NA18962.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0058 a0001c0002 a0001c0058	a0001c0002t0001 a0001c0058t0029 a0001c0002t0001 a0001c0058t0029	a0001c0002t0001g0233 a0001c0058t0029g0235 a0001c0002t0001g0233 a0001c0058t0029g0235	2	268	0.0075	168	c.148 others(183): Show c.148+574_148+575insTGTGTGTGTGTGTGTGTGAATCCCAAGAAC CAGACCTCAGCCAGCAGAGGGAGGAGAAGCCATTTCTACTAGAGATTTAA GATATTCTCCACCCCCACCCTCTCTCTCTCTTGCTCTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64822372	T T	TCACACAC others(161): Show TCACACACACACACACACACACACACACACACACACACACACACACATAC ACAGAGCAAGAGAGAGAGAGGGTGGGGGTGGAGAATATCTTAAATCTCTA GTAGAAATGGCTTCTCCTCCCTCTGCTGGCTGAGGTCTGGTTCTTGGGAT TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	268	0.0037	168	c.148 others(183): Show c.148+574_148+575insTGTGTGTGTGTGTGTGTGAATCCCAAGAAC CAGACCTCAGCCAGCAGAGGGAGGAGAAGCCATTTCTACTAGAGATTTAA GATATTCTCCACCCCCACCCTCTCTCTCTCTTGCTCTGTGTATGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64822374	T T	TCACACAC others(161): Show TCACACACACACACACACACACACACACACACACACACACACACACAGAG CAAGAGAGAGAGAGGGTGGGGGTGGAGAATATCTTAAATCTCTAGTAGAA ATGGCTTCTCCTCCCTCTGCTGGCTGAGGTCTGGTTCTTGGGATTCACAC ACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0018 a0018	a0018c0046 a0018c0046	a0018c0046t0016 a0018c0046t0016	a0018c0046t0016g0178 a0018c0046t0016g0178	1	268	0.0037	168	c.148 others(183): Show c.148+572_148+573insTGTGTGTGTGTGTGTGTGTGTGTGAATCCC AAGAACCAGACCTCAGCCAGCAGAGGGAGGAGAAGCCATTTCTACTAGAG ATTTAAGATATTCTCCACCCCCACCCTCTCTCTCTCTTGCTCTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64822374	T T	TCTCACAC others(161): Show TCTCACACACACACACACACACACACACACACACACACACACACACACAC ACAGAGCAAGAGAGAGAGAGGGTGGGGGTGGAGAATATCTTAAATCTCTA GTAGAAATGGCTTCTCCTCCCTCTGCTGGCTGAGGTCTGGTTCTTGGGAT ACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0059 a0002c0013t0001g0059	1	268	0.0037	168	c.148 others(183): Show c.148+572_148+573insTGTGTGTGTGTGTGTGTGTATCCCAAGAAC CAGACCTCAGCCAGCAGAGGGAGGAGAAGCCATTTCTACTAGAGATTTAA GATATTCTCCACCCCCACCCTCTCTCTCTCTTGCTCTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64822374	T T	TCTCACAC others(161): Show TCTCACACACACACACACACACACACACACACACACACACACACACACAC AGAGCAAGAGAGAGAGAGGGTGGGGGTGGAGAATATCTTAAATCTCTAGT AGAAATGGCTTCTCCTCCCTCTGCTGGCTGAGGTCTGGTTCTTGGGATAC ACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18951.hp2 NA19080.hp1 HG03491.hp2 NA18951.hp2 NA19080.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0002c0013 a0010c0049 a0002c0003 a0002c0013 a0010c0049	a0002c0003t0034 a0002c0013t0005 a0010c0049t0003 a0002c0003t0034 a0002c0013t0005 a0010c0049t0003	a0002c0003t0034g0060 a0002c0013t0005g0140 a0010c0049t0003g0134 a0002c0003t0034g0060 a0002c0013t0005g0140 a0010c0049t0003g0134	3	268	0.0112	168	c.148 others(183): Show c.148+572_148+573insTGTGTGTGTGTGTGTGTGTGTATCCCAAGA ACCAGACCTCAGCCAGCAGAGGGAGGAGAAGCCATTTCTACTAGAGATTT AAGATATTCTCCACCCCCACCCTCTCTCTCTCTTGCTCTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar

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