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
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(174): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18984.hp2 NA18990.hp2 HG00673.hp1 NA18984.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0131 a0001c0001t0002g0196 a0001c0001t0009g0130 a0001c0001t0002g0131 a0001c0001t0002g0196 a0001c0001t0009g0130	3	342	0.0088	181	c.-66 others(200): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(174): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCC TCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0001 a0003c0036t0001	a0003c0036t0001g0042 a0003c0036t0001g0042	1	134	0.0075	181	c.575 others(202): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGT ACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLCH1_chr3_155474881_155750071	155668085	A A	AAAAAAAA others(174): Show AAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCCAGGAGTGGTGG CGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGATAATTGCT TGAACCCAGGAGGCAGAGCTTGCAATGAGCCAAGTTTGCACCACTGCACT CCAGCCTGGGTGACAGAGCAAGACTCCATCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp1 HG01257.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0223 a0001c0003t0001g0233 a0001c0003t0001g0223 a0001c0003t0001g0233	2	264	0.0076	181	c.79+ others(198): Show c.79+36060_79+36061insGAGATGGAGTCTTGCTCTGTCACCCAGG CTGGAGTGCAGTGGTGCAAACTTGGCTCATTGCAAGCTCTGCCTCCTGGG TTCAAGCAATTATCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCA CACGCCACCACTCCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTT TTT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22			chr3	TogoVar
PLCXD1_chrX_276381_308356	280296	G G	GGGAGGCC others(174): Show GGGAGGCCGTGCAGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTG CAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAG CGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGT GCAGGCGGAGGGGGGTACGTGCAGGGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0078 a0001c0001t0033g0078	1	176	0.0057	181	c.-14 others(192): Show c.-1410_-1409insGGAGGCCGTGCAGGGGAAGGGAGGCCGTGCAGGC AGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAGG CCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		1084		chrX	TogoVar
PLCXD1_chrX_276381_308356	280638	C C	CGGAGGCC others(174): Show CGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGT GCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAG GGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGT GCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG03669.hp2 HG01891.hp1 HG03139.hp1 HG03669.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0013 a0001c0003 a0009c0013	a0001c0003t0006 a0001c0003t0044 a0009c0013t0021 a0001c0003t0006 a0001c0003t0044 a0009c0013t0021	a0001c0003t0006g0114 a0001c0003t0044g0115 a0009c0013t0021g0150 a0001c0003t0006g0114 a0001c0003t0044g0115 a0009c0013t0021g0150	3	176	0.0171	181	c.-10 others(192): Show c.-1068_-1067insGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGG GGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAG GCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGG CGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		742		chrX	TogoVar
PLCXD1_chrX_276381_308356	280844	C C	CCGTGCAG others(174): Show CCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAG GCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(33): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG02165.hp1 HG02922.hp2 HG03195.hp2 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18972.hp1 NA18986.hp1 NA18992.hp1 NA19003.hp1 NA19007.hp1 NA19057.hp1 NA19070.hp1 NA19074.hp2 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0005 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0043 a0001c0001t0057 a0001c0001t0066 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0078 a0001c0001t0079 a0001c0002t0093 a0001c0003t0002 a0001c0003t0006 a0001c0003t0020 a0001c0003t0060 a0001c0003t0081 a0001c0003t0082 a0001c0009t0102 a0002c0005t0022 a0004c0012t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0004g0045 a0001c0001t0005g0081 a0001c0001t0013g0002 a0001c0001t0043g0017 a0001c0001t0057g0055 a0001c0001t0066g0161 a0001c0001t0070g0004 a0001c0001t0072g0001 a0001c0001t0073g0102 a0001c0001t0078g0080 a0001c0001t0079g0001 a0001c0002t0093g0137 a0001c0003t0002g0016 a0001c0003t0002g0018 a0001c0003t0002g0044 a0001c0003t0006g0041 a0001c0003t0006g0042 a0001c0003t0020g0036 a0001c0003t0020g0056 a0001c0003t0060g0051 a0001c0003t0081g0057 a0001c0003t0082g0160 a0001c0009t0102g0032 a0002c0005t0022g0035 a0004c0012t0005g0001	36	176	0.2046	181	c.-86 others(190): Show c.-862_-861insCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGC AGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		536		chrX	TogoVar
PLEKHN1_chr1_961482_980865	976943	C C	CCCCGGGA others(174): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCCGCC AACCCCGAGAACCGCCTCCCACGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0138 a0002c0002t0002g0138	1	422	0.0024	181	c.23 others(192): Show c.2368_*2369insCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCC GGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGCCCCCACC GACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCT CCCACCACCCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1079		chr1	TogoVar
POTEM_chr14_18962434_19008752	18966837	C C	CACGCCGC others(174): Show CACGCCGCACGCGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCACG CGCACGCCGCACGCGCACGCCGCACGCGCACGCGCACGCGCACGCCGCAC GCGCACGCCGCACGCGCCGGCAGTGGCTTGGCTGGCTTGTAACGGCTTGC ACGTGCATGCCGCGCGCGCACGCCGCACGCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0005 a0007c0005t0005	a0007c0005t0005g0053 a0007c0005t0005g0053	1	67	0.0149	181	c.-64 others(190): Show c.-649_-648insACGCCGCACGCGCACGCCGCACGCGCACGCCGCACG CGCACGCCGCACGCGCACGCCGCACGCGCACGCCGCACGCGCACGCGCAC GCGCACGCCGCACGCGCACGCCGCACGCGCCGGCAGTGGCTTGGCTGGCT TGTAACGGCTTGCACGTGCATGCCGCGCGCGCACGCCGCACGCGT	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding		596		chr14	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(174): Show TTATATATATATATATATGTATATAATATATATATGTATTATGTGTGTGT GTGTATATATATGTGTGTGTATATATATGTATATATGTATATATATGTAT ATATATATACATATATATACATATATATACATATATACATATATATACAC ACACATATATATACACACACACACATAATACA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0113 a0002c0004t0002g0113	1	170	0.0059	181	c.106 others(200): Show c.106-45788_106-45787insATATATATGTATATAATATATATATG TATTATGTGTGTGTGTGTATATATATGTGTGTGTATATATATGTATATAT GTATATATATGTATATATATATACATATATATACATATATATACATATAT ACATATATATACACACACATATATATACACACACACACATAATACATATA TATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R14C_chr6_150138044_150255392	150236332	C C	CTGTGCCA others(174): Show CTGTGCCAAGCAAACTAGAAATGCACACACATAGGAAAGAATAGTCTCGG GTGAGTGAATGCATTAAAAAGGTCCATGCGGTGCATTCTCAGATCCCAAA ATAGTGCCCAGGACTGAGATGAGAGGTAGGGGCCCAGGAGTTTACTGAAG ACAGGACCTTTTCATTGTTTTCCGTGAGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG06807.hp2 HG02451.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0240 a0002c0002t0009g0249 a0002c0002t0009g0240 a0002c0002t0009g0249	2	312	0.0064	181	c.424 others(200): Show c.424-12412_424-12232dupGTGCCAAGCAAACTAGAAATGCACAC ACATAGGAAAGAATAGTCTCGGGTGAGTGAATGCATTAAAAAGGTCCATG CGGTGCATTCTCAGATCCCAAAATAGTGCCCAGGACTGAGATGAGAGGTA GGGGCCCAGGAGTTTACTGAAGACAGGACCTTTTCATTGTTTTCCGTGAG AGGGT	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57470419	T T	TCCCCTCT others(174): Show TCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCC TCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCC CCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTC TCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0281 a0001c0001t0005g0281	1	300	0.0033	181	c.694 others(200): Show c.694-36927_694-36926insCTCTCCCCTCTCCCCCTCTCCCCTCT CCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCC TCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTC TCCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCB_chr16_23830983_24225611	23875617	C C	CATATGTG others(174): Show CATATGTGTATATCACACACATATGTATGTATATCACACACATATGTGTA TATCACACACATATGTATGTATATCACACACATGTATGTATATCACACAC ATATGTGTATATCAAACACATATGTATGTATATCACACACATATATGTAT GTATATCACACATACATGTATGTATATCACAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02976.hp1 HG01169.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0051 a0001c0004t0002 a0001c0005t0051	a0001c0004t0002g0010 a0001c0005t0051g0040 a0001c0004t0002g0010 a0001c0005t0051g0040	2	148	0.0135	181	c.205 others(200): Show c.205+38215_205+38216insGTGTATATCACACACATATGTATGTA TATCACACACATATGTGTATATCACACACATATGTATGTATATCACACAC ATGTATGTATATCACACACATATGTGTATATCAAACACATATGTATGTAT ATCACACACATATATGTATGTATATCACACATACATGTATGTATATCACA TATAT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRTN3_chr19_835999_853175	844284	C C	CCGCGCCT others(174): Show CCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTG CGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGC CCGCGCCTCTCCCCTGCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCC CGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	415	0.0024	181	c.369 others(196): Show c.369+296_369+297insCTGCGCGCCTCTCCCCCGCCCGCGCCTCTC CCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTGCGCGCCTCTCC CCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTC CCCTGCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCC C	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSEN1_chr14_73131507_73228691	73189448	T T	TAAAAATA others(174): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0148 a0001c0001t0006g0148	1	378	0.0027	181	c.548 others(198): Show c.548+2554_548+2555insAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGG CGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RASA3_chr13_113972783_114137623	114005778	C C	CCCTCCTG others(174): Show CCCTCCTGCCCTGCCGGACACCACATTACCTTTTCTCCCCTCCTGCCCTG CCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTT ACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCC TCCTGCCCTGCCGGACACCACCTTACCCTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	181	c.174 others(200): Show c.1742+1754_1742+1755insAGAAGGGTAAGGTGGTGTCCGGCAGG GCAGGAGGGGAGAAGGGTAAGGTGGTGTCCGGCAGGGCAGGAGTGGGGAG AAGGGTAAGGTGGCGTCCGGCAGGGCAGGAGGGGAGAAGGGTAAGGTGGC ATCCGGCAGGGCAGGAGGGGAGAAAAGGTAATGTGGTGTCCGGCAGGGCA GGAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(174): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGACGGGGACTGGGGTGGGGACGGGGCCCGGGGGTGGG GACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGG TGGGGATGGCCACTGGGGTGGGAATGGGGCCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0248 a0004c0004t0002g0248	1	432	0.0023	181	c.-83 others(198): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCC CGTCCCCACCCCCGGGCCCCGTCCCCACCCCAGTCCCCGTCCCCACCCCG GGCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCGGGCCCCATCCCCAC CCC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RCOR1_chr14_102587649_102735561	102676457	G G	GGGGCGGG others(174): Show GGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGACCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	292	0.0034	181	c.362 others(198): Show c.362-5436_362-5435insGCGGGGGGGCTGACCCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGG	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(174): Show CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	292	0.0034	181	c.362 others(198): Show c.362-5379_362-5378insCCCCCCCCCCGCCTCCCTCCCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCC CCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(174): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	448	0.0022	181	c.48 others(192): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736026	C C	CTTCTTCT others(174): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	448	0.0022	181	c.48 others(192): Show c.4811_*4812insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3346		chr21	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(174): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0159 a0001c0001t0055g0159	1	396	0.0025	181	c.-76 others(190): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCTCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		275		chr14	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(174): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATAATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATGTAT AATATATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	181	c.-31 others(192): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ACATTATATTATATAATATATTATACATTATATTATATAATATATTATAT ATTATATTATATAATATATTATATATTATATTATATTATATATTATATAT TATATATTATATTATATATTATATATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF213_chr17_80255852_80403794	80355600	G G	GAAGAAGC others(174): Show GAAGAAGCGGGGTGGACGGGAATCGGGGCTCACGGAGGAAGAGGGGTGAC CGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGGGAATGGGGGC TTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAG AAGCGGGGTGGACGGGAATGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0194 a0002c0002t0003g0194	1	292	0.0034	181	c.108 others(202): Show c.10862+1024_10862+1025insAAGAAGCGGGGTGGACGGGAATCG GGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAG AAGCGGGGTGACCGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGC TTATGGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF38_chr9_36331400_36405269	36361339	T T	TTTTTTTT others(174): Show TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCAATCTCAGCTCACTGCATGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTTTTTTTTGTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0012	1	402	0.0025	181	c.571 others(198): Show c.571-3398_571-3397insTACAAAAAAAAAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCATGCAGTGAGCTGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAA	RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	4/11			chr9	TogoVar
RPH3AL_chr17_207389_357807	340446	A A	ACCCAGGC others(174): Show ACCCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCC ACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCAC TGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCACACTCACTGCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18947.hp1 HG01978.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0087 a0001c0001t0025g0076 a0001c0001t0004g0087 a0001c0001t0025g0076	2	133	0.0150	181	c.-21 others(200): Show c.-212-6513_-212-6512insAGGGGGGGCAGTGAGTGTGGATGTGG GGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCC GGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGC CTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(174): Show CCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTT CCTTCCCTCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTT CCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0205	1	232	0.0043	181	c.77 others(192): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCT TCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCC CCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(174): Show CCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCT CCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTT CCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0024 a0001c0001t0048g0024	1	232	0.0043	181	c.77 others(192): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCT TCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCC CCTCCCTCTTCCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SEMA3E_chr7_83358238_83654139	83389951	T T	TATTACAT others(174): Show TATTACATGTATACATATATACACGTATATATTACATGTATACATATATA CACGTATATATTACATGTATACATATATACACGTATATATTACATGTATA CATATATACACGTATATGTGTATAGTGTATACGTATACACATATATACGC GTATATATGTGTATACGTATACACATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	226	0.0044	181	c.166 others(200): Show c.1667+2603_1667+2604insGTATATATGTGTATACGTATACACAT ATATACGCGTATATATGTGTATACGTATACACTATACACATATACGTGTA TATATGTATACATGTAATATATACGTGTATATATGTATACATGTAATATA TACGTGTATATATGTATACATGTAATATATACGTGTATATATGTATACAT GTAAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83617457	A A	ATAATATA others(174): Show ATAATATATAATTTTATATAAATAATATATAATTTTATATAAATTTTATA TAAATAATATATAATTTTATATAAATTTTATATAAATAATATATAATTTT ATATAAATTTTATATAAATAATATATAATTTTATATAAATTTTATATAAA TAATATATAATTTTATATAAATTTTATATAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp1 HG01993.hp1 HG01261.hp2 HG01978.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0011 a0001c0003t0005 a0001c0003t0048 a0001c0002t0011 a0001c0003t0005 a0001c0003t0048	a0001c0002t0011g0024 a0001c0003t0005g0022 a0001c0003t0048g0031 a0001c0002t0011g0024 a0001c0003t0005g0022 a0001c0003t0048g0031	3	226	0.0133	181	c.115 others(200): Show c.115+30970_115+30971insCTTATATAAAATTTATATAAAATTAT ATATTATTTATATAAAATTTATATAAAATTATATATTATTTATATAAAAT TTATATAAAATTATATATTATTTATATAAAATTTATATAAAATTATATAT TATTTATATAAAATTTATATAAAATTATATATTATTTATATAAAATTATA TATTA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83617457	A A	ATAATATA others(174): Show ATAATATATAATTTTATATAAATAATATATAATTTTATATAAATTTTATA TAAATAATATATAATTTTATATAAATTTTATATAAATAATATATAATTTT ATATAAATTTTATATAAATAATATATAATTTTATATAAATTTTATATAAG TAATATATAATTTTATATAAATTTTATATAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00738.hp2 others(25): Show HG00438.hp1 HG00609.hp2 HG00738.hp2 HG01167.hp1 HG01168.hp2 HG01496.hp2 HG02027.hp1 HG02109.hp1 HG02129.hp2 HG02300.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp2 HG02896.hp2 HG03139.hp1 HG03453.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 NA18939.hp2 NA18983.hp1 NA18984.hp1 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0015 a0002c0004 a0003c0007 a0004c0013	a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 others(20): Show a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 a0001c0002t0005 a0001c0002t0011 a0001c0002t0026 a0001c0002t0027 a0001c0002t0044 a0001c0002t0045 a0001c0002t0050 a0001c0002t0084 a0001c0003t0027 a0001c0006t0042 a0001c0006t0043 a0001c0015t0005 a0002c0004t0003 a0002c0004t0005 a0002c0004t0012 a0002c0004t0074 a0002c0004t0085 a0003c0007t0017 a0003c0007t0025 a0004c0013t0012	a0001c0001t0005g0032 a0001c0001t0017g0012 a0001c0002t0001g0159 others(25): Show a0001c0001t0005g0032 a0001c0001t0017g0012 a0001c0002t0001g0159 a0001c0002t0005g0021 a0001c0002t0005g0030 a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0026g0019 a0001c0002t0026g0035 a0001c0002t0027g0014 a0001c0002t0044g0013 a0001c0002t0045g0026 a0001c0002t0050g0020 a0001c0002t0084g0161 a0001c0003t0027g0025 a0001c0006t0042g0010 a0001c0006t0043g0011 a0001c0015t0005g0027 a0002c0004t0003g0160 a0002c0004t0005g0033 a0002c0004t0012g0036 a0002c0004t0012g0039 a0002c0004t0074g0162 a0002c0004t0085g0095 a0003c0007t0017g0041 a0003c0007t0025g0029 a0003c0007t0025g0037 a0004c0013t0012g0023	28	226	0.1239	181	c.115 others(200): Show c.115+30970_115+30971insCTTATATAAAATTTATATAAAATTAT ATATTACTTATATAAAATTTATATAAAATTATATATTATTTATATAAAAT TTATATAAAATTATATATTATTTATATAAAATTTATATAAAATTATATAT TATTTATATAAAATTTATATAAAATTATATATTATTTATATAAAATTATA TATTA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83617457	A A	ATAATATA others(174): Show ATAATATATAATTTTATATAAATAATATATAATTTTATATAAATTTTATA TAAATAATATATAATTTTATATAAATTTTATATAAATAATATATAATTTT ATATAAATTTTATATAAGTAATATATAATTTTATATAAATTTTATATAAG TAATATATAATTTTATATAAATTTTATATAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0038 a0001c0002t0011g0038	1	226	0.0044	181	c.115 others(200): Show c.115+30970_115+30971insCTTATATAAAATTTATATAAAATTAT ATATTACTTATATAAAATTTATATAAAATTATATATTACTTATATAAAAT TTATATAAAATTATATATTATTTATATAAAATTTATATAAAATTATATAT TATTTATATAAAATTTATATAAAATTATATATTATTTATATAAAATTATA TATTA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SERINC2_chr1_31408213_31439678	31432165	T T	TAGGGTGG others(174): Show TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGATGGTC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0205 a0001c0004t0003g0205	1	376	0.0027	181	c.101 others(198): Show c.1014-794_1014-793insCAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGA GGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTCAGGGT GGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1740303	A A	AGCCTGAT others(174): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	445	0.0023	181	c.-26 others(192): Show c.-2610_-2609insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2567		chr17	TogoVar
SGK3_chr8_66707781_66867022	66720613	T T	TACAAAAA others(174): Show TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03195.hp2 HG03225.hp2 others(2): Show HG02258.hp2 HG03195.hp2 HG03225.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0004 a0001c0002t0005	a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 others(2): Show a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0005g0061 a0001c0002t0005g0064	5	142	0.0352	181	c.-12 others(200): Show c.-122+7781_-122+7782insCAAAAAATTAGCCGGGCGTGGTAGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGSM1_chr22_24801211_24932578	24900391	C C	CTTTCTTT others(174): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC CTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	338	0.0030	181	c.261 others(200): Show c.2611-1425_2611-1424insCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTT CTTCCTTTCTTCCTTTCTTCCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(174): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0019 a0001c0001t0041g0019	1	214	0.0047	181	c.691 others(200): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(174): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	214	0.0047	181	c.691 others(200): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(174): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 NA19030.hp2 HG03195.hp1 HG03209.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0047 a0002c0003t0006g0155 a0002c0003t0006g0047 a0002c0003t0006g0155	3	386	0.0078	181	c.563 others(198): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG GTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140359185	T T	TACAAAAA others(174): Show TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	346	0.0029	181	c.376 others(196): Show c.376-401_376-400insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG T	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC45A4_chr8_141202174_141313288	141203446	A A	AGGGAGAG others(174): Show AGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAG AGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAG AGGGAGAGAGAGACCGTGGAGAGAGGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0044 a0002c0001t0044	a0002c0001t0044g0181 a0002c0001t0044g0181	1	188	0.0053	181	c.81 others(192): Show c.8125_*8126insCCTCTCCCTCTCTCCACGGTCTCTCTCTCCCTCT CTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCT CCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCT CTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTCTCTCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3727		chr8	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(174): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	410	0.0024	181	c.152 others(198): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SMAD2_chr18_47803957_47935659	47850787	T T	TTATATAT others(174): Show TTATATATTATATATATATTATATATATTATGTTAATATATATTATATAT TATATATATATTATATATATTATGTATAATATATATTATATATTATATAT ATATTATATATATTATGTATAATATATATTATATATTATATATATATTAT ATATATTATGTATAATATATTTATATATTATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0194 a0001c0001t0101g0194	1	310	0.0032	181	c.784 others(196): Show c.784+486_784+487insTATAATATATAAATATATTATACATAATAT ATATAATATATATATAATATATAATATATATTATACATAATATATATAAT ATATATATAATATATAATATATATTATACATAATATATATAATATATATA TAATATATAATATATATTAACATAATATATATAATATATATATAATATAT A	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(174): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG02145.hp1 others(2): Show HG01433.hp1 HG01433.hp2 HG02145.hp1 HG02273.hp2 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0004 a0001c0002 a0001c0006 a0002c0004	a0001c0002t0001 a0001c0006t0001 a0001c0006t0003 others(1): Show a0001c0002t0001 a0001c0006t0001 a0001c0006t0003 a0002c0004t0001	a0001c0002t0001g0056 a0001c0006t0001g0025 a0001c0006t0003g0001 others(2): Show a0001c0002t0001g0056 a0001c0006t0001g0025 a0001c0006t0003g0001 a0002c0004t0001g0107 a0002c0004t0001g0117	5	150	0.0333	181	c.165 others(200): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGCG TTGTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(174): Show CCCTCCCTCCCTCCCTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTC CCTCCTCCCTTCCCCCCTCCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0062 a0001c0026t0062	a0001c0026t0062g0049 a0001c0026t0062g0049	1	168	0.0060	181	c.548 others(200): Show c.548+52895_548+52896insTCCCTCTCTTCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCC TCCCTCCCTCCTCCCTTCCCCCCTCCCTCCCTTCCTCCCTCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(174): Show CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0019 a0001c0005t0003g0019	1	418	0.0024	181	c.54 others(192): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(174): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	181	c.54 others(192): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(174): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCC CACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTC TCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	418	0.0024	181	c.54 others(192): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
ST3GAL1_chr8_133449848_133576887	133520897	G G	GAGTAGCT others(174): Show GAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTT TTTGTGGGTTGTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTTGCCCA GGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCTTCCTG GGTTCAAGCAATTTTCCTGCCTCAGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0055 a0001c0016t0055	a0001c0016t0055g0164 a0001c0016t0055g0164	1	332	0.0030	181	c.-42 others(202): Show c.-428-21889_-428-21709dupTGGGAGGCTGAGGCAGGAAAATTG CTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCA CTCTAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAACAA CCCACAAAAACAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTAATCCC AGCTACT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGG others(174): Show GGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0024	1	408	0.0025	181	c.-19 others(192): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCCGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGG others(174): Show GGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00621.hp1 others(10): Show HG00140.hp1 HG00423.hp2 HG00621.hp1 HG01975.hp1 HG02074.hp1 HG02080.hp1 HG04228.hp2 NA18960.hp2 NA18988.hp1 NA19009.hp1 NA19064.hp1 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0089 a0001c0001t0003 a0001c0001t0007 a0001c0001t0089	a0001c0001t0003g0001 a0001c0001t0003g0056 a0001c0001t0003g0252 others(3): Show a0001c0001t0003g0001 a0001c0001t0003g0056 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0007g0004 a0001c0001t0089g0255	13	408	0.0319	181	c.-19 others(192): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCCGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar

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