Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(218): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TGTATATATATACGTATATATATGTATATATATGTATATATATACGTATA TATATACGTATATATATGTATATATATACGTATATATACGTATATATATG TATATATATGTATATATACGTATATATATACGTATATATATATGTATATA TATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	186	0.0054	225	c.114 others(246): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TACATATATATACGTATATATACGTATATATATACATATATATACGTATA TATATACGTATATATATACATATATATACATATATATACGTATATATATA CACATATATATACGTATATAATATATACGTATATATATATACATATATAT A	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
USH1C_chr11_17488900_17549416	17527112	A A	ACCTGCTC others(218): Show ACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG CTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCC CCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCC CTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC TCCCTCCCACCGTCATGGAGTACTGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	360	0.0028	225	c.497 others(238): Show c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGG GCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGG GGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC AGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC AGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG	USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26			chr11	TogoVar
USP43_chr17_9640517_9734687	9681103	C C	CTATATAA others(218): Show CTATATAATATATACTATATAATATATACTATATAATATATACTATATAA TATATACTATATAATATACTATATAATATATTATATAGTATATTATATAG TATATATTATATAGTATATATTATATAGTATATATTATATACTATATATT ATATACTATATAATATATACTATATAATATATAGTATATAATATATACTA TATAATATATACTATATAATATATAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	330	0.0030	225	c.110 others(242): Show c.1105+804_1105+805insCTATATAATATATTATATAGTATATTAT ATAGTATATATTATATAGTATATATTATATAGTATATATTATATACTATA TATTATATACTATATAATATATACTATATAATATATAGTATATAATATAT ACTATATAATATATACTATATAATATATAGTATATAATATATACTATATA ATATATACTATATAATATATACTATATAATATATACTATATAATATA	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
VCX3B_chrX_8459830_8471510	8466895	A A	AGAGGTGT others(218): Show AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGGGGAGGGAGGGAGGGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	225	c.51 others(234): Show c.512_*513insGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		386		chrX	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(218): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(49): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02080.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02698.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03239.hp2 HG03669.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18940.hp1 NA18966.hp1 NA18974.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18990.hp1 NA18997.hp1 NA19065.hp1 NA20129.hp1 NA20300.hp1	a0001 a0006 a0008 others(13): Show a0001 a0006 a0008 a0015 a0027 a0038 a0039 a0056 a0057 a0058 a0059 a0065 a0072 a0075 a0077 a0078	a0001c0001 a0006c0007 a0008c0008 others(13): Show a0001c0001 a0006c0007 a0008c0008 a0015c0024 a0027c0087 a0038c0047 a0039c0046 a0056c0082 a0057c0083 a0058c0081 a0059c0080 a0065c0073 a0072c0070 a0075c0065 a0077c0112 a0078c0111	a0001c0001t0001 a0001c0001t0002 a0006c0007t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0006c0007t0001 a0008c0008t0001 a0015c0024t0001 a0027c0087t0001 a0038c0047t0001 a0039c0046t0001 a0056c0082t0001 a0057c0083t0001 a0058c0081t0001 a0059c0080t0001 a0065c0073t0001 a0072c0070t0001 a0075c0065t0001 a0077c0112t0001 a0078c0111t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0004 a0006c0007t0001g0001 a0008c0008t0001g0001 a0015c0024t0001g0001 a0027c0087t0001g0002 a0038c0047t0001g0001 a0039c0046t0001g0001 a0056c0082t0001g0002 a0057c0083t0001g0001 a0058c0081t0001g0001 a0059c0080t0001g0001 a0065c0073t0001g0001 a0072c0070t0001g0001 a0075c0065t0001g0001 a0077c0112t0001g0001 a0078c0111t0001g0002	52	341	0.1525	225	c.23 others(234): Show c.238_*239insGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		112		chrX	TogoVar
VCX_chrX_7838171_7849143	7844304	G G	GGGGAGGG others(218): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGG AGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	341	0.0029	225	c.28 others(234): Show c.288_*289insGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		162		chrX	TogoVar
VPS53_chr17_503668_719839	598887	G G	GCCCGGCC others(218): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03942.hp1 HG02738.hp2 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0144 a0002c0003t0018 a0002c0003t0144	a0002c0003t0018g0231 a0002c0003t0144g0215 a0002c0003t0018g0231 a0002c0003t0144g0215	2	232	0.0086	225	c.121 others(244): Show c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC CCGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
WDR81_chr17_1719704_1743585	1739180	A A	AGCCTGAT others(218): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GCGCGGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0015 a0002c0001t0002g0015	1	431	0.0023	225	c.14 others(236): Show c.1495_*1496insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		596		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739649	A A	AGCCGGAC others(218): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0007 a0002c0001t0007g0007	1	431	0.0023	225	c.19 others(236): Show c.1964_*1965insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1065		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740423	G G	GTGAGGGT others(218): Show GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGCAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCT GATGCAGGGAGTGAGGAGCCGGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0002 a0004c0023t0002	a0004c0023t0002g0022 a0004c0023t0002g0022	1	431	0.0023	225	c.27 others(236): Show c.2738_*2739insTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGCAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1839		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740423	G G	GTGAGGGT others(218): Show GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCT GATGCAGGGAGTGAGGAGCCGGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp2 others(43): Show HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02698.hp2 HG03017.hp2 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18966.hp1 NA18966.hp2 NA18990.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19011.hp2 NA19012.hp2 NA19070.hp2 NA19074.hp2 NA19084.hp1 NA19089.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0006 a0013 a0014	a0002c0001 a0002c0066 a0003c0021 others(4): Show a0002c0001 a0002c0066 a0003c0021 a0004c0031 a0006c0010 a0013c0046 a0014c0053	a0002c0001t0002 a0002c0001t0007 a0002c0066t0002 others(5): Show a0002c0001t0002 a0002c0001t0007 a0002c0066t0002 a0003c0021t0002 a0004c0031t0002 a0006c0010t0002 a0013c0046t0002 a0014c0053t0007	a0002c0001t0002g0004 a0002c0001t0002g0006 a0002c0001t0002g0007 others(14): Show a0002c0001t0002g0004 a0002c0001t0002g0006 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0015 a0002c0001t0002g0019 a0002c0001t0002g0020 a0002c0001t0002g0026 a0002c0001t0002g0047 a0002c0001t0002g0053 a0002c0001t0007g0027 a0002c0066t0002g0004 a0003c0021t0002g0064 a0004c0031t0002g0007 a0006c0010t0002g0004 a0013c0046t0002g0004 a0014c0053t0007g0007	46	431	0.1067	225	c.27 others(236): Show c.2738_*2739insTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1839		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740541	G G	GAGTGAGG others(218): Show GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAG CCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAAGGGGCCTGATGCAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02523.hp1 HG02735.hp2 others(21): Show HG02056.hp2 HG02523.hp1 HG02735.hp2 HG02738.hp1 HG03041.hp2 HG03927.hp1 HG04184.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18957.hp1 NA18963.hp1 NA18984.hp2 NA18991.hp1 NA18998.hp1 NA19003.hp2 NA19057.hp1 NA19063.hp1 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA20905.hp2	a0002 a0004 a0006 others(3): Show a0002 a0004 a0006 a0009 a0012 a0020	a0002c0001 a0002c0047 a0004c0023 others(5): Show a0002c0001 a0002c0047 a0004c0023 a0004c0060 a0006c0010 a0009c0064 a0012c0054 a0020c0040	a0002c0001t0002 a0002c0001t0007 a0002c0047t0002 others(6): Show a0002c0001t0002 a0002c0001t0007 a0002c0047t0002 a0004c0023t0002 a0004c0060t0002 a0006c0010t0002 a0009c0064t0002 a0012c0054t0002 a0020c0040t0002	a0002c0001t0002g0004 a0002c0001t0002g0006 a0002c0001t0002g0007 others(17): Show a0002c0001t0002g0004 a0002c0001t0002g0006 a0002c0001t0002g0007 a0002c0001t0002g0008 a0002c0001t0002g0015 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0026 a0002c0001t0002g0027 a0002c0001t0002g0052 a0002c0001t0002g0097 a0002c0001t0007g0078 a0002c0047t0002g0004 a0004c0023t0002g0022 a0004c0060t0002g0069 a0006c0010t0002g0004 a0006c0010t0002g0090 a0009c0064t0002g0004 a0012c0054t0002g0004 a0020c0040t0002g0022	24	431	0.0557	225	c.28 others(236): Show c.2856_*2857insAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGAT GCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTG AGGAGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGAA	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1957		chr17	TogoVar
WDR81_chr17_1719704_1743585	1741743	G G	GGCCTGAT others(218): Show GGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA19030.hp1 NA20300.hp1 HG02647.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0002 a0001c0013t0003g0057 a0001c0013t0003g0002 a0001c0013t0003g0057	3	431	0.0070	225	c.40 others(236): Show c.4058_*4059insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGAGCCTGATGTAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		3159		chr17	TogoVar
WFDC11_chr20_45643563_45675239	45645650	C C	CTGACCCC others(218): Show CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCAGCTGGCCGGGAGGGGCACTGACCCCCCCACCTCCTTCCCG GATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp2 others(3): Show HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01256.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0031 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0125	6	420	0.0143	225	c.30 others(236): Show c.3068_*3069insACCCCCCACCCGGCCAGCTGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCCGGGAAGG AGGTGGGGGGGTCAGTGCCCCTCCCGGCCAGCTGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCAGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCA	WFDC11	ENSG00000180083.11	transcript	ENST00000324384.4	protein_coding		2912		chr20	TogoVar
WFDC11_chr20_45643563_45675239	45645650	C C	CTGACCCC others(218): Show CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCAGCTGGCCGGGAGGGGCGCTGACCCCCCCACCTCCTTCCCG GATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(77): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01975.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0003g0160	80	420	0.1905	225	c.30 others(236): Show c.3068_*3069insACCCCCCACCCGGCCAGCTGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCCGGGAAGG AGGTGGGGGGGTCAGCGCCCCTCCCGGCCAGCTGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCAGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCA	WFDC11	ENSG00000180083.11	transcript	ENST00000324384.4	protein_coding		2912		chr20	TogoVar
WFDC11_chr20_45643563_45675239	45645650	C C	CTGACCCC others(218): Show CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCAGCTGGCCGGGCGGGGCGCTGACCCCCCCCACCTCCTTCCC GGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA19060.hp1 HG03927.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0002 a0001c0001t0001g0017	2	420	0.0048	225	c.30 others(236): Show c.3068_*3069insACCCCCCACCCGGCCAGCTGCCCCGTCCGGGAGG GAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCCGGGAAGGA GGTGGGGGGGGTCAGCGCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCAGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCA	WFDC11	ENSG00000180083.11	transcript	ENST00000324384.4	protein_coding		2912		chr20	TogoVar
WFDC11_chr20_45643563_45675239	45645650	C C	CTGACCCC others(218): Show CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCAGCTGGCTGGGAGGGGCGCTGACCCCCCCACCTCCTTCCCG GATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCAGCTGGCCGGGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	420	0.0024	225	c.30 others(236): Show c.3068_*3069insACCCCCCACCCGGCCAGCTGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCCGGGAAGG AGGTGGGGGGGTCAGCGCCCCTCCCAGCCAGCTGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCAGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCA	WFDC11	ENSG00000180083.11	transcript	ENST00000324384.4	protein_coding		2912		chr20	TogoVar
WFDC11_chr20_45643563_45675239	45645653	A A	ACCCCCCC others(218): Show ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCAGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCTTCCCGGAT GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCAGCTGGCCGGGTGGGGGGTTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18997.hp2 NA19082.hp1 NA18939.hp2 NA18997.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0155 a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0155	3	420	0.0071	225	c.30 others(236): Show c.3065_*3066insGTCAACCCCCCACCCGGCCAGCTGCCCCGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCCGGGA AGGAGGTGGGGGGGTCAGCGCCCCGCCCGGCCAGCTGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCAGCTGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGG	WFDC11	ENSG00000180083.11	transcript	ENST00000324384.4	protein_coding		2909		chr20	TogoVar
WFDC11_chr20_45643563_45675239	45645675	C C	CGGGGTGG others(218): Show CGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC TGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGAGGGG CGCTGACCCCCCCACCTCCTTCCCGGATGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGGGTGGGGGG TTGACCCCCCCACCTCCCTCCCGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	420	0.0024	225	c.30 others(236): Show c.3043_*3044insATCCGGGAGGGAGGTGGGGGGGTCAACCCCCCAC CCGGCCAGCTGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCATCCGGGAAGGAGGTGGGGGGGTCAGCGCCCCTCCC GGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCTGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCC	WFDC11	ENSG00000180083.11	transcript	ENST00000324384.4	protein_coding		2887		chr20	TogoVar
WFDC11_chr20_45643563_45675239	45645675	C C	CGGGGTGG others(218): Show CGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC TGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGAGGGG CGCTGACCCCCCCACCTCCTTCCCGGATGGGGTGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGTGGGGGG TTGACCCCCCCACCTCCCTCCCGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01261.hp2 others(53): Show HG00423.hp1 HG00621.hp2 HG01261.hp2 HG01928.hp1 HG01943.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02165.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG03098.hp1 HG03239.hp1 HG03654.hp2 HG04115.hp1 HG04228.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18962.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18976.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0021 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0081 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0005g0133	56	420	0.1333	225	c.30 others(236): Show c.3043_*3044insATCCGGGAGGGAGGTGGGGGGGTCAACCCCCCAC CCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCATCCGGGAAGGAGGTGGGGGGGTCAGCGCCCCTCCC GGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCTGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCC	WFDC11	ENSG00000180083.11	transcript	ENST00000324384.4	protein_coding		2887		chr20	TogoVar
XRCC2_chr7_152639776_152681141	152674710	T T	TAATATAT others(218): Show TAATATATTTTTAAATATATATTATATATAATATATATTTAAATATATAT TATATATAATATATTTTTAAATATATATTATATATAATATATATTTAAAT ATATATTATATATAATATATTTTTAAATATATATTATATATAATATATAT TTAAAAATATATTATATAAATATATTTTAAAATATGTATTATATATAAAT ATATTTTTAAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	394	0.0025	225	c.39+ others(240): Show c.39+1330_39+1331insTATATATAATATATATTTAAAAATATATTT ATATATAATACATATTTTAAAATATATTTATATAATATATTTTTAAATAT ATATTATATATAATATATATTTAAAAATATATTATATATAATATATATTT AAATATATATTATATATAATATATATTTAAAAATATATTATATATAATAT ATATTTAAATATATATTATATATAATATATATTTAAAAATATATT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZBTB8A_chr1_32534427_32610941	32539740	G G	GGCGCCGA others(218): Show GGCGCCGAGGCGAGCGGGCGCCATTTGCAGCCCGGGGCGCAGTGGCGGCG GCGGCGGCGCCGGCTCCGAGGGGCTGTGGGCGGCCACGGAGGAGGCGCGG GCGGCTGCGGCGGCGGCGGCGGGCCCAGCCCGGGGCGGCGGCGGGGCGTT GGTGGGCACCGGCTCCCGGCCGCCCCTCCCCGCGCCCGGCCGCGCCTCCC AGCCCGCGGGGGCCGGCCCTTTCTGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	302	0.0033	225	c.-84 others(240): Show c.-84+173_-84+174insGAGGCGAGCGGGCGCCATTTGCAGCCCGGG GCGCAGTGGCGGCGGCGGCGGCGCCGGCTCCGAGGGGCTGTGGGCGGCCA CGGAGGAGGCGCGGGCGGCTGCGGCGGCGGCGGCGGGCCCAGCCCGGGGC GGCGGCGGGGCGTTGGTGGGCACCGGCTCCCGGCCGCCCCTCCCCGCGCC CGGCCGCGCCTCCCAGCCCGCGGGGGCCGGCCCTTTCTGCGCGCC	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFPM1_chr16_88448280_88542031	88461137	A A	ACCTGGTG others(218): Show ACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTGGG GCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCA GGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGAC CCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGG TGATGACCGAGGGGTGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0006 a0002c0002t0046g0006	1	318	0.0031	225	c.40+ others(240): Show c.40+7493_40+7494insTGACCGAGGGGTGGGGCGGGAGGCCTGGTG AGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTG GTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGG GAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGT GGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGA	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88461209	A A	AGGGGCGG others(218): Show AGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGA CCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCT GGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGTGGGGCGG GAGGCCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAGGACCGAGGGGC GGGAGACCTGGTGAGGACCGAGGGGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	318	0.0031	225	c.40+ others(240): Show c.40+7544_40+7545insCTGGTGAGGACCCAGGGGCAGAAGGTCTGG TGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGG AGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGTG GGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAGGACCG AGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCC	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFR2_chr19_3799024_3874038	3820923	C C	CGGGGGTC others(218): Show CGGGGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGGGACAC TAGAGGTCGGGGACACAGGGACACTAGAGGTCGGGGGACACAGGGACACT AGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGGGACACC GGGGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGGGACACT AGAGGTCGGGGGACACAGGGACACCG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0322 a0002c0002t0001g0322	1	398	0.0025	225	c.163 others(242): Show c.1631+416_1631+417insCGGTGTCCCTGTGTCCCCCGACCTCTAG TGTCCCTGTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCCCCGG TGTCCCTGTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCTCTAG TGTCCCTGTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCGACCTCTAGT GTCCCTGTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCCCC	ZFR2	ENSG00000105278.12	transcript	ENST00000262961.9	protein_coding	10/18			chr19	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(218): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAAGAGGGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	228	0.0044	225	c.103 others(244): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTACCCTCT CCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCTCTCCCCCCTCTTCCCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(218): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG03098.hp2 others(2): Show HG02647.hp2 HG02818.hp1 HG03098.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0094 a0001c0001t0001g0144 a0001c0001t0002g0116 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0144 a0001c0001t0002g0116 a0001c0001t0002g0217 a0001c0001t0007g0001	5	228	0.0219	225	c.103 others(244): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTACCCTCT CCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCTCTCCCCCCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGGAG others(218): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	314	0.0032	225	c.45- others(240): Show c.45-8999_45-8998insTTTCTTTTCTTTTCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTATATAT others(218): Show TTATATATATATAAATATATATATATTTATATATATAAATATATATATTT ATATATATATAAATATATATATATTTATATATATAAATATATATTTATAT ATAAATATATATTTATATATATATAAATATATTTTATATATAAATATATA TATATTTATATATATATAAATATATATTTATATATATATAAATATATATA TATATATATTTATATATATATAAATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	400	0.0025	225	c.532 others(240): Show c.532+446_532+447insTATTTATATATATATAAATATATATATATA TATATTTATATATATATAAATATATATTTATATATATATAAATATATATA TATTTATATATAAAATATATTTATATATATATAAATATATATTTATATAT AAATATATATTTATATATATAAATATATATATATTTATATATATATAAAT ATATATATTTATATATATAAATATATATATATTTATATATATATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(219): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0008 a0008	a0008c0045 a0008c0045	a0008c0045t0001 a0008c0045t0001	a0008c0045t0001g0072 a0008c0045t0001g0072	1	306	0.0033	226	c.130 others(245): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC2_chr10_99777640_99857594	99838318	C C	CGGGCGGA others(219): Show CGGGCGGAGGGCTGAGCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	336	0.0030	226	c.361 others(245): Show c.3614+2032_3614+2033insGGAGGGCTGAGCCCCCCATCTCCCTC CCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838318	C C	CGGGCGGA others(219): Show CGGGCGGAGGGCTGAGCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGGCTGACCCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG04199.hp2 HG01516.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0021 a0001c0001 a0002c0021	a0001c0001t0001 a0002c0021t0003 a0001c0001t0001 a0002c0021t0003	a0001c0001t0001g0053 a0002c0021t0003g0252 a0001c0001t0001g0053 a0002c0021t0003g0252	2	336	0.0060	226	c.361 others(245): Show c.3614+2032_3614+2033insGGAGGGCTGAGCCCCCCATCTCCCTC CCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGC GGGGGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838565	C C	CCACCTCC others(219): Show CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC TACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCCC CATCTCCCTCCCGGACGGGGTGGCTGGCCGAGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp1 HG03654.hp1 others(1): Show HG00738.hp1 HG01516.hp1 HG03654.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0060	4	336	0.0119	226	c.361 others(245): Show c.3614+2277_3614+2278insCCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GAGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838565	C C	CCACCTCC others(219): Show CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC TACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCCC CATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18952.hp1 NA18969.hp1 others(3): Show NA18948.hp1 NA18952.hp1 NA18969.hp1 NA18985.hp2 NA18993.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0307 a0001c0001t0001g0318	6	336	0.0179	226	c.361 others(245): Show c.3614+2277_3614+2278insCCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(219): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAG CCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACC CCCCCCATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0175 a0001c0001t0072g0175	1	337	0.0030	226	c.61+ others(241): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGGGGGGGGT GGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCCCGTGT others(219): Show CCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCCCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	226	c.51 others(237): Show c.5106_*5107insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGACGGGGCAGAGA CACGGGGGACGGAGCAGGGACACGGGGGACGGGGCAGGGACACGGGGGAC GGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGGGACA CGGGACGGGGCAGAGACACGGGGGACGGAGCAGGGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3933		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(219): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCTGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCATTCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0022 a0001c0005t0002g0022	1	295	0.0034	226	c.34 others(237): Show c.3435_*3436insACGGAGCAGAGACACGGGGAATGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGGGACGGAG CAGAGACACGGGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACAGGGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACR_chr22_50733204_50750339	50748433	T T	TCCGAGGG others(219): Show TCCGAGGGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGACA TCCGAGGGGTGTGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGACA TCCGAGGGGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGAC ATCCGAGGGGTGTGCCCACCTAGACAACCGAGGAGGGTGCCCACCTAGAC AACCGAGGGGTGTGCCCACCTAGACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	464	0.0022	226	c.32 others(237): Show c.3226_*3227insCCGAGGGGTGTGCCCACCTAGACAACCGAGGGGT GTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACATCCGAGGAGT GTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAATCTGAGGGG TGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCGAGGAG GGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGACAA	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3095		chr22	TogoVar
ACSF3_chr16_89088852_89161233	89147208	A A	AGAGGAGG others(219): Show AGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGGTCCACAG AGGGAGGGAGGGTCCACAGAGTGAGTGAGAGAGGAGGGAGGGTCCACAGA GTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAG GGGCCACAGTGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGCAAGG GGGGGAGGGGCCACAGAGTGAGTGAGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0031 a0004c0004t0031	a0004c0004t0031g0232 a0004c0004t0031g0232	1	368	0.0027	226	c.161 others(245): Show c.1613+1201_1613+1202insTCCACAGAGGGAGGGAGGGTCCACAG AGTGAGTGAGAGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGA GGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAG GGAGGAGGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGT GAGTGAGGGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAM9_chr8_38991973_39110261	39045473	C C	CACACACC others(219): Show CACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTG TACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTG TGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTG TGTGTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTG TGTACACACCTATATGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19002.hp1 HG01496.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0102 a0001c0001t0001g0119	2	332	0.0060	226	c.130 others(245): Show c.1302+3378_1302+3379insGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGT GTGTGTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGT GTGTACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS12_chr5_33518535_33896990	33849539	T T	TATATATT others(219): Show TATATATTGCATAGCAATATATATATGTATTGCATAGCAATATATATATG TATTGCATAGCAATATATATGTATTGCATAGCAATATATATATATGTATT GCATAGCAATATATACATATATGTACTGCATAGCAATACACATGTGTACT GCATAGCAATACACATGTGTACTGCATAGCAATACACATGTGTACTGCAT AGCAATACACATGTGTACTGCATAGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0201 a0001c0001t0009g0201	1	224	0.0045	226	c.489 others(245): Show c.489+31579_489+31580insTGCTATGCAGTACACATGTGTATTGC TATGCAGTACACATGTGTATTGCTATGCAGTACACATGTGTATTGCTATG CAGTACACATGTGTATTGCTATGCAGTACATATATGTATATATTGCTATG CAATACATATATATATATTGCTATGCAATACATATATATTGCTATGCAAT ACATATATATATTGCTATGCAATACATATATATATTGCTATGCAATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(219): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATATGTATATCTAGAT ATACATATACATGTATATGTATATCTAGATATACATATACATGTATCTGT ATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTAT CTAGATATACATATACATGTATCTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	226	0.0044	226	c.132 others(245): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATATGTATATCTAGAT ATACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACAT GTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179217800	G G	GGATGGGC others(219): Show GGATGGGCACACTCACTAGGGGATGGGCACACTCTCTAGGGGATGGTGCA AGGGCAGATGGCACACTCTCTAGGGGATGGTGTGAGGGTGGATGGGCACA CTCTCTAGGGGATGGTGCAAGGGCAGATGGCACACTCTCTAGGGGATGGT GTGAGGGTGGATGGGCACACTCTCTAGGGGATGGTGCAAGGGCAGATGGC ACACTCTCTAGGGGATGGTGTGAGGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0225 a0003c0003t0001g0225	1	276	0.0036	226	c.689 others(245): Show c.689-10086_689-10085insACCCTCACACCATCCCCTAGAGAGTG TGCCATCTGCCCTTGCACCATCCCCTAGAGAGTGTGCCCATCCACCCTCA CACCATCCCCTAGAGAGTGTGCCATCTGCCCTTGCACCATCCCCTAGAGA GTGTGCCCATCCACCCTCACACCATCCCCTAGAGAGTGTGCCATCTGCCC TTGCACCATCCCCTAGAGAGTGTGCCCATCCCCTAGTGAGTGTGCCCATC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72400324	G G	GTGTATAT others(219): Show GTGTATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGTG CATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATACACAC GGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATAC GTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATA CACACGGTGTGTATATATACGTGTGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02055.hp1 HG02647.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0084 a0002c0009t0001g0085 a0002c0009t0001g0084 a0002c0009t0001g0085	2	182	0.0110	226	c.661 others(245): Show c.661+14490_661+14491insTGCACACGTATATATACACACCGTGT GTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACA CGTATATATACACACCGTGTGTATATCTATGCACACGTATATATACACAC CGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTAT GCACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATACA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456150	T T	TTATATAT others(219): Show TTATATATAGTATATATACTGTATATACTTTATATATAGTATATATACTG TATATACTTTATATATAGTATATATACTGTATATACTATATATATTTTAT ATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATATA TAGTATATATACTATATATATTTTATATATAGTATATATATTGTATATAC TATATATATTTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	182	0.0055	226	c.505 others(245): Show c.505-41180_505-41179insGTACATACTATATATAAAATATATAT AGTATATACAATATATATACTATATATAAAATATATATAGTATATATACT ATATATACTATATATAAAATATATATAGTATATACAGTATATATACTATA TATAAAATATATATAGTATATACAGTATATATACTATATATAAAGTATAT ACAGTATATATACTATATATAAAGTATATACAGTATATATACTATATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(219): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18950.hp2 HG03098.hp2 NA18950.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0002 a0001c0001t0006 a0003c0003t0002	a0001c0001t0006g0029 a0003c0003t0002g0018 a0001c0001t0006g0029 a0003c0003t0002g0018	2	218	0.0092	226	c.32- others(239): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(219): Show AATATATATATACATATATAAATATATATATACATATATAAATATATATA TACATATATAAATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAAATATATATACATATATA AATATATATACATATATAAATATATATACATATATAAATATATATATACA TATATAAATATATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19070.hp2 HG00609.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0236 a0001c0001t0009g0237 a0001c0001t0009g0236 a0001c0001t0009g0237	2	462	0.0043	226	c.151 others(243): Show c.151+5564_151+5565insATTTATATATGTATATATATTTATATAT GTATATATATATTTATATATGTATATATATTTATATATGTATATATATTT ATATATGTATATATATTTATATATGTATATATATTTATATATGTATATAT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATGTAT ATATATATTTATATATGTATATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(219): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCC TTTCCCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCC TTCCTTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCT TCCTTTCTTCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp2 HG02451.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0018 a0002c0009t0008 a0001c0002t0018 a0002c0009t0008	a0001c0002t0018g0037 a0002c0009t0008g0026 a0001c0002t0018g0037 a0002c0009t0008g0026	2	48	0.0417	226	c.252 others(247): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGAAGAAA GGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAG GAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGG AAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGG GA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(219): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCC TTTCCCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCC TTCCTTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCT TCCTTTCTTCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04228.hp1 HG03239.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0003 a0001c0002t0009	a0001c0002t0003g0038 a0001c0002t0009g0028 a0001c0002t0003g0038 a0001c0002t0009g0028	2	48	0.0417	226	c.252 others(247): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGAAGAAA GGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAG GAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGG AAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGG GA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(219): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTCTTTC TTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTCCTTTCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0017 a0001c0004t0014g0017	1	48	0.0208	226	c.252 others(247): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGAAGAAAGGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAGGAAG GAAGAAAGAAAGGAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGGAAGG GAAAGGGAAGGGAAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGG GA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar

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