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
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(492): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATATAATATATAATATATAATATATAATATATATAATATATAATATAT ATTATATATAATATATATATTATATATAATATATAATATATATAATATAA TATATATAATATAATATATATATTATATATAATATATATTATATATTATA TATAATATATATTTATATATAATATATAAATATATATTATATATAATATA TAATATATAATTATATATTATATATTATATATAATATATATTTATATATA ATATATAAATATAATTATATATTATATATAATATATAAATATATATTATA TATAATATATAATATATATTTATATATTATATATTATATATAATATATAT TTATATATTATATATAATATATATTTATATATTATATATATTTAATATAT ATTTTATATATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	188	0.0053	499	c.193 others(518): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAA ATATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATAATTATATATTATATATTATATATAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATTATATATATTATATATTATA TATAATATATATATTATATATAATATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATATTATATATTATATATTATATATT ATATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27919292	G G	GGGAGGAG others(492): Show GGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAG AGAAGGGAAGGGAGGAGGAGGGGAGAGGAAAGGAGGAGGAGAAGGGTGAG GAGGAGAGAAGGGAGAGGAGGGAGAGAGGAGGAGGAGAAGGAGGAGGAGG AAGGAGAGGAGAGGAGGAGGAGGAGGAGAGAAGGAGGAGGAGGAGAGAGG GCGCACGGTCTTGGTCGAGCTGGGCAGGAGGAGGAGAGAAGGGAGGAGGA GGAGAGAAGGGAGGAGGAGGAGAGAAGGTGAGGAGAGGAGAGAGAGGGAG GAGGAGAGAGAAGGGCTGCGCGACGGGCTGCGGCGCGTCCGGGCCTTTGT CTCTGCCCTTTGCATGTCTCGTCCGCGGTCCCTCGGTCTGCTTGCGTGGC CACTGCGTCCCTCCTGCTCCTTCTTCTTCTTCCTCTCCTGGCTCTTCTGT CCTCGTCGTCCGCTCCCTCTTCTCCTTCCTCGCCTCGAGCCGGGTCTGCA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0089 a0001c0002t0007g0089	1	314	0.0032	499	c.916 others(516): Show c.916+2278_916+2279insTGCAGACCCGGCTCGAGGCGAGGAAGGA GAAGAGGGAGCGGACGACGAGGACAGAAGAGCCAGGAGAGGAAGAAGAAG AAGGAGCAGGAGGGACGCAGTGGCCACGCAAGCAGACCGAGGGACCGCGG ACGAGACATGCAAAGGGCAGAGACAAAGGCCCGGACGCGCCGCAGCCCGT CGCGCAGCCCTTCTCTCTCCTCCTCCCTCTCTCTCCTCTCCTCACCTTCT CTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTGCC CAGCTCGACCAAGACCGTGCGCCCTCTCTCCTCCTCCTCCTTCTCTCCTC CTCCTCCTCCTCTCCTCTCCTTCCTCCTCCTCCTTCTCCTCCTCCTCTCT CCCTCCTCTCCCTTCTCTCCTCCTCACCCTTCTCCTCCTCCTTTCCTCTC CCCTCCTCCTCCCTTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCC TCTATTCTCTCCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(492): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTG GGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGTTGGGTGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	290	0.0069	499	c.464 others(512): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGT TGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281197	T T	TCTCAGCC others(492): Show TCTCAGCCACCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCT CCCCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCAC CTCCTCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTC ACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTTCTCAGCCACCCTCCT GTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTCTTTGGCCACCCT CCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCT CCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTCTTTGGCCAC CCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCAC CCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCCCCTCAGC CACCCTCCTGTCACCTCCCTTCTCAGCCACCCTCCTGTCACCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0198 a0001c0006t0011g0198	1	280	0.0036	499	c.484 others(516): Show c.484+9848_484+9849insGAGGGGGAGGTGACAGGAGGGTGGCTGA GAAGGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAGGGTGGC TGAGGAGGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGT GGCTGAGGGAGATGACAGGAGGGTGGCCAAAGAGGGAGGTGACAGGAGGG TGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAG GGTGGCTGAGGGAGATGACAGGAGGGTGGCCAAAGAGGGAGGTGACAGGA GGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGAAGGGAGGTGACA GGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGA CAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGT GACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAGGGTGGCTGAGGAGGGA GGTGACAGGAGGGTGGCTGAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SIGIRR_chr11_400716_419999	401147	A A	ACCCGCCC others(492): Show ACCCGCCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	242	0.0041	499	c.47 others(510): Show c.4748_*4749insGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGG GTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGA GCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG CCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGG GTGAGCGGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4568		chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(492): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTGGA GTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAA GCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTCGC CACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACTGT TGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTGGCC TCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGAAA GTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGTGA TCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCAAA CAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03041.hp2 HG02896.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0074 a0001c0001t0003 a0001c0002t0074	a0001c0001t0003g0108 a0001c0002t0074g0110 a0001c0001t0003g0108 a0001c0002t0074g0110	2	306	0.0065	499	c.17+ others(516): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGCCT TTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(492): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTGGA GTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAA GCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTCGC CACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACTGT TGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTGGCC TCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGAAA GTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGTGA TCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCAAA CAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01884.hp1 HG02486.hp1 others(15): Show HG01169.hp2 HG01884.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03704.hp1 HG04184.hp1 NA18967.hp1 NA18991.hp2 NA19000.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0036 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0005t0032 a0001c0006t0030	a0001c0001t0002g0093 a0001c0001t0003g0124 a0001c0001t0003g0125 others(15): Show a0001c0001t0002g0093 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0013g0290 a0001c0001t0013g0291 a0001c0001t0013g0297 a0001c0001t0015g0301 a0001c0001t0019g0131 a0001c0001t0036g0293 a0001c0001t0036g0294 a0001c0002t0003g0149 a0001c0002t0005g0092 a0001c0002t0008g0147 a0001c0002t0010g0292 a0001c0002t0010g0299 a0001c0005t0032g0296 a0001c0005t0032g0298 a0001c0006t0030g0295	18	306	0.0588	499	c.17+ others(516): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGCCT TTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(492): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG GCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGG GGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGC GGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCG GGGGGGGGCGGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGG GGGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	222	0.0045	499	c.914 others(518): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC CGCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCC CTCCCGCCCCCCCCCGCCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCC GCCTCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCG CCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCC CTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCCGCCTCCTCCCCCTCCGGC CCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCT CCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCC CCCCGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCC CCGCCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203230	A A	AAAGAGAG others(492): Show AAAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGGAGAGGGAGAG GGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAG AGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGAGGGAGAGGAGAGAG GGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGAGAGAGAGA GACCGTGGAGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGGGGA GAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGAGAGAGAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0030 a0002c0001t0030	a0002c0001t0030g0031 a0002c0001t0030g0031	1	188	0.0053	499	c.83 others(510): Show c.8341_*8342insCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTC TCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCTCTCCCTCTCTCCCCTCTCTCTCTCTCTCCACGGTCTCCCTCTC CCTCTCCTCCACGGTCTCTCTCTCTCCTCTCTCTCTCTCTCCCTCTCTCC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCT CTCTCTCCCTCTCTCCCTCTCTCCTCTCCCTCTCTCTCTCTCTCTCTCCA CGGTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCCCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCCC TCTCTCCACGGTCTCCCTCTCCCTCTCCCCTCTCCCTCTCTCCACGGTCT CCCTCTCCCTCTCTT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3943		chr8	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(492): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGGAGAG AGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGA GGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGA GGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGG GAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGG GAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0009 a0001c0018t0002g0009	1	256	0.0039	499	c.22 others(510): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GAGAGGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGG AGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAG GGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGA GATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAG GGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGG AGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAG AGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(492): Show GGGGAGGGAGGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGT AGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGAC AGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAG AGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAG AGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGA GGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGA GGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGG GAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGG GAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0075 a0001c0021t0002g0075	1	256	0.0039	499	c.22 others(510): Show c.2268_*2269insGGGAGGGAGGGGGGAGAGGGGGGACAGGGAGGGA GGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGG GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGG GGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGG AGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAG GGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGA GATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAG GGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGG AGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAG AGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(492): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATAATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATCATATATTATATATGATTATAAAATATAATCATATATTATATAT GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	268	0.0037	499	c.75 others(510): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATAATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATCATATATTATATATGATTATAAAATATAA TCATATATTATATATGATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48736325	T T	TAGAGTCC others(492): Show TAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGA GTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCC ATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCATC CCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCCATCCCC CCAGGAGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAA TGAGAATCACGCTCCCAGAGTCCAGAGTCCATCCCCCAAGGAGGAATGAG AATCGCACTCCTGGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATC ACACTCCTGGAGTCCATCCCCCCGAGGAGGAATGAGAATCACACTCCCAG AGTCCACAGAGTCTATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAG TCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACACTCCTGGAGTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 NA20300.hp1 HG02622.hp1 HG02922.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0033 a0001c0001t0001 a0001c0001t0028 a0001c0001t0033	a0001c0001t0001g0012 a0001c0001t0028g0018 a0001c0001t0033g0034 a0001c0001t0001g0012 a0001c0001t0028g0018 a0001c0001t0033g0034	3	258	0.0116	499	c.391 others(518): Show c.391-13506_391-13505insGAGTCCATCCCCCCAGGAGGAATGAG AATCGCACTCCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATC ACACTCCTAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAG AGTCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGT CCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCAT CCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCATCCC CCAAGGAGGAATGAGAATCGCACTCCTGGAGTCCAGAGTCCATCCCCCCA GGAGGAATGAGAATCACACTCCTGGAGTCCATCCCCCCGAGGAGGAATGA GAATCACACTCCCAGAGTCCACAGAGTCTATCCCCCCAGGAGGAATGAGA ATCGCACTCCTAGAGTCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATC ACACTCCTGGAGTCCAGAGTCCA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377340	C C	CTCTGTGC others(492): Show CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTG CCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0127 a0001c0003t0003g0127	1	370	0.0027	499	c.-13 others(510): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1315		chr19	TogoVar
TH_chr11_2158929_2176815	2161833	G G	GACCCCTG others(492): Show GACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTC AGACCCCTGTCCCCATACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCAGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	388	0.0026	499	c.23 others(510): Show c.2399_*2400insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT ATGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGG TGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2095		chr11	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(492): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTC ACCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCACCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	114	0.0088	499	c.-25 others(518): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCC TCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCC TATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCA CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCACCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTT CTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(492): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCACATGATGATATGATACTATATCATCACATGATGATATGATACTA TATCATCACATGATGATATGATACTATATCATCACATGATGATATGATAC TATATCATCACATGATGATATGATACTATATCATCACATGATGATATGAT ACTATATCATCACATGATGATATGATACTATATCATCACATGATGATATG ATACTATATCATCACATGATGATATGATACTATATCATCACATGATGATA TGATACTATATCATCACATGATGATATGATACTATATCATCACATGATGA TATGATACTATATCATCACATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0073	a0001c0002t0073g0039 a0001c0002t0073g0039	1	174	0.0058	499	c.41- others(516): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAC ATGATGATATGATACTATATCATCACATGATGATATGATACTATATCATC ACATGATGATATGATACTATATCATCACATGATGATATGATACTATATCA TCACATGATGATATGATACTATATCATCACATGATGATATGATACTATAT CATCACATGATGATATGATACTATATCATCACATGATGATATGATACTAT ATCATCACATGATGATATGATACTATATCATCACATGATGATATGATACT ATATCATCACATGATGATATGATACTATATCATCACATGATGATATGATA CTATATCATCACATGATGATATGATACTATATCATCATATAACATGATGA TATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(492): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0095 a0001c0002t0028g0095	1	174	0.0058	499	c.41- others(516): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATAACATGATGA TATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(492): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCTCCTCCTTCCCCTTC CCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCACCTTCCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCTTCTTCCTCCTCCCTTCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTC CCTCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCTCCTCCCTTCCCCCTTTCTCCTTATCCCTCCTCCCT TCCCCCTTCCTCCTTCCCCTTCCACCCTTCCCCCTTACCCCCTCCTCTCT TCCTCCTTCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0029 a0029	a0029c0015 a0029c0015	a0029c0015t0001 a0029c0015t0001	a0029c0015t0001g0033 a0029c0015t0001g0033	1	334	0.0030	499	c.657 others(514): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTC TCCTCCTTCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCA CCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCTTCTTCCTCCTCCCTTCCCCTTCTTCCCTCCCC CCTTCCCCCTTCCTCCCTCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCCTTTCTCC TTATCCCTCCTCCCTTCCCCCTTCCTCCTTCCCCTTCCACCCTTCCCCCT TACCCCCTCCTCTCTTCCTCCTTCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(492): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0145 a0010c0012t0001g0145	1	334	0.0030	499	c.657 others(514): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTC CTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(492): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTT CCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01993.hp2 HG02273.hp1 others(3): Show HG01928.hp2 HG01993.hp2 HG02273.hp1 HG03540.hp1 HG03704.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0154 a0001c0002t0002g0153 a0001c0002t0002g0155 others(3): Show a0001c0001t0001g0154 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158	6	334	0.0180	499	c.657 others(514): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTA CCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238909157	G G	GTGTATGT others(492): Show GTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTT TGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGT GTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTAT GTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGT GTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTGT ATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGG TGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGT GTGTGTGTATGTGGGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGT GGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGT GTGTGTATGTGGGGGTGGGGTGTGTTCGTGGGTGTGGTATGTGGTGTGTA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	338	0.0030	499	c.36 others(514): Show c.36-681_*36-680insTGTAGTGTGGGGTGTGTGTAGTGTGTGGTA TGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTG GTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGT TTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTG TATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGG TGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGT GGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGT ATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGTGTGTTTGTGGTT GTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTG GTATGTTTGGTGTGTGTGTGTATGTGGGGGTGGGGTGTGTTCGTGGGTGT GGTATGTGGTGTGTATGTA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909242	T T	TATGTGGT others(492): Show TATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGG TGTGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTG TATGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGT GTGTGTATGTGGGGGTGGGGTGTGTGGTTAGGATATGTGTATGTGGTGTG TAGTGTGGGGTGTGGTAGTAGTGTCTGGTATGTTTGAGTGTGTGTGTGTG TGTATGTGGGTAGGAGTGTGTGTGTTATGTGGGTGTTAGCGTTTTAGAGT TACATAGTACAGTATTAGAGACAGTACTGTAGTGTGGGATTTTGTGTAGT AGTGATATTGATATGTTAGAGTTCTAGTGTGTATGTGGTGAGATAGTACG TGTGAGTAGGTATAGTATATATATACGTATATTTGATAGTGAGTCTAGTG ATGACATAGGTGTGATTTATGTTAGGGATCGTGTGGATAGTGGGACTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	338	0.0030	499	c.36 others(514): Show c.36-600_*36-599insATGTGGTGTGTATGTAGTGTGGGGTGTGTG TAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTG TTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAG TGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTGGTTAG GATATGTGTATGTGGTGTGTAGTGTGGGGTGTGGTAGTAGTGTCTGGTAT GTTTGAGTGTGTGTGTGTGTGTATGTGGGTAGGAGTGTGTGTGTTATGTG GGTGTTAGCGTTTTAGAGTTACATAGTACAGTATTAGAGACAGTACTGTA GTGTGGGATTTTGTGTAGTAGTGATATTGATATGTTAGAGTTCTAGTGTG TATGTGGTGAGATAGTACGTGTGAGTAGGTATAGTATATATATACGTATA TTTGATAGTGAGTCTAGTGATGACATAGGTGTGATTTATGTTAGGGATCG TGTGGATAGTGGGACTGGA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UVSSA_chr4_1342208_1393049	1372708	A A	AGCACTCA others(492): Show AGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTTA CCTCCCGCATCTCAGAGCACTCATCTCCTGCTACTCAGCACTCACCTCCC GCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCC CTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCAC TCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCT CCTGCTACTCAGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCG TCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAG CACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCA CCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGC GTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp2 NA18990.hp1 others(1): Show HG02040.hp2 HG02155.hp2 NA18990.hp1 NA18993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0239 a0001c0004t0001g0250 a0001c0004t0001g0022 a0001c0004t0001g0239 a0001c0004t0001g0250	4	400	0.0100	499	c.128 others(518): Show c.1289-2609_1289-2608insTACCTCCCGCATCTCAGAGCACTCAT CTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCG TCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAG GGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACT CACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCC GCGTCTCAGGGCACTCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGT CCCTGCACTCATCTCCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCAC TCACCTCCCGCGTCTCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCT CCTGCTACTCAGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTC TCAGGGCACTCACCTCCCGCGTCCCTGCACTCATCTCCTGCTACTCAGCA CTCACCTCCCGCGTCCCTGCACT	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VPS53_chr17_503668_719839	619294	T T	TCCGGGTA others(492): Show TCCGGGTAGCTGGGACTACAGGCATGCACCACCACGCCCCGCTAATATTT CCCGGGTAGCTGGGACTACAGGCGCGCACCACCATGCCCCGCTAATATTT CCCGGGTAGCTGGGACTACAGGCGTGCACCACCACACCCCACTAATATTT TCCGGGTAGCTGGGACTACAGGCGTGCACCACCACGCCTGCTTATATTTC CCGGATAGCTGGGACTACAGGCGTGCACCACCACACCCCGCTAATATTTC CCGGGTAGCTGGGACTACAGGCGTGTACCACCACACCCCGCTAATATTTC CCGGGTAGCTGGGACTACAGGCGTGTACCACCACACCCCACTAATATTTC CCGGGTAGCTGGGACTACAGGCACGCACCACCACGCCCCGCTAATATTTC CCGGGTAGCTGGGACTACAGGCGCGCACCACCACGCCCCGCTAATATTTC CCGGGTAGCTGGGACTACAGGCGCGCACCACCACGCCCCGCTAATATTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0142 a0001c0001t0114g0142	1	232	0.0043	499	c.111 others(518): Show c.1116+4238_1116+4239insGAAATATTAGCGGGGCGTGGTGGTGC GCGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGC GCGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGC GTGCCTGTAGTCCCAGCTACCCGGGAAATATTAGTGGGGTGTGGTGGTAC ACGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGTGTGGTGGTAC ACGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGC ACGCCTGTAGTCCCAGCTATCCGGGAAATATAAGCAGGCGTGGTGGTGCA CGCCTGTAGTCCCAGCTACCCGGAAAATATTAGTGGGGTGTGGTGGTGCA CGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCATGGTGGTGCG CGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCA TGCCTGTAGTCCCAGCTACCCGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(492): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG02258.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0067 a0001c0001t0007g0101 a0001c0001t0004g0067 a0001c0001t0007g0101	2	246	0.0081	499	c.53- others(512): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCC TCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCC CTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCT CTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCC CTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTC CCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(492): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTC CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0308 a0003c0009t0003g0308	1	326	0.0031	499	c.483 others(514): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(492): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCACCGGGCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00741.hp1 others(11): Show HG00323.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01433.hp2 HG01884.hp2 HG02486.hp1 HG02738.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0001t0035	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0017 others(11): Show a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0016 a0001c0001t0020g0013 a0001c0001t0035g0032	14	302	0.0464	499	c.118 others(518): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGCCCGGTGGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCCTGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG GCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGG GGCTGACCCCCCACCTCCCTCCC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12			chr13	TogoVar
ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(492): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCTGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCGGGCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	302	0.0033	499	c.118 others(518): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGCCCGGGGGGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGTGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCCTGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG GCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGG GGCTGACCCCCCACCTCCCTCCC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12			chr13	TogoVar
ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(492): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCACCGGGCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0006 a0004c0006t0003g0006	1	302	0.0033	499	c.118 others(518): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGCCCGGTGGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCCTGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG GCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGG GGCTGACCCCCCACCTCCCTCCC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12			chr13	TogoVar
ZNF365_chr10_62369369_62407450	62370951	A A	ATATGATA others(492): Show ATATGATATATATCATATATGTGATATATATCACATATGTGATATATATC ATATCACATATCATATGACATATCATATCACATATCACATATCACATATC ACATATCACATATCATATGATATATATCACATGTGATATATAGCATATGT GATATATATCATATATATCACATGTGATATATAGCATATGTGATATATAT CATATATATCACATGTGATATATAGCATATGTGATATATATCATATATAT CACATGTGATATATAGCATATGTGATATATATCATATATATCACATGTGA TATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCA TACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATA TGCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATA GCATATATATCACATGTGATATATAGCATATGTGATATATATGATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	350	0.0029	499	c.-35 others(510): Show c.-3521_-3520insTATGATATATATCATATATGTGATATATATCACA TATGTGATATATATCATATCACATATCATATGACATATCATATCACATAT CACATATCACATATCACATATCACATATCATATGATATATATCACATGTG ATATATAGCATATGTGATATATATCATATATATCACATGTGATATATAGC ATATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGAT ATATATCATATATATCACATGTGATATATAGCATATGTGATATATATCAT ATATATCACATGTGATATATAGCATATGTGATATATATCATATATATCAC ATATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGT ATAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATAT CACATGTGATATATAGCATATATATCACATGTGATATATAGCATATGTGA TATATATGATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3417		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(492): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATGTCATATATATCATATATATGATATATATCATAT ATCATATATATGATATATATCATATATCATATATATGATATATATCATAT ATCATATATATGATATATATCACATATATATATCATATATATCACATATA TATCATATATATCATATATATATCATATATATGATATATATCATATATAT ATCATATATATGATATATATCATATATATCACATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	499	c.-34 others(510): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATGTCATATATATCATATATA TGATATATATCATATATCATATATATGATATATATCATATATCATATATA TGATATATATCATATATCATATATATGATATATATCACATATATATATCA TATATATCACATATATATCATATATATCATATATATATCATATATATGAT ATATATCATATATATATCATATATATGATATATATCATATATATCACATA TATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF674_chrX_46492725_46550421	46497278	G G	GCCATTTA others(492): Show GCCATTTACCAATTAGTATATTCCTTGTGGGGAAAAGTAGCTTGGTCTAT TGGACTCGTCTCTCTTCACTCCTCTTGTCACCAGGATCTTTCCATTCAGG TCCCATTGTCTTAGCTCAGGGCTCCCTCAGGTACTATCAGCCAGCTGCAG TCTCTTGCTACATGGGCTTCTTCAATATGACTGCTTACTCATCAAACCAG CAAGGAAAATCTCTCCAGTCTGCTAAGAGTCTTATATAACATAATGTAGT CATGGGAGTGACATCCCATCACCTTTGCCCATAGTCTATTGGCTAGCAGC AGTCTCAGTTTGCCCACCTTCAGGGAAGGGATTATATAGGGCATTAATCA TTGGGGGTCATCTAGGGTTTCTGCCTTAACTGCTAACAGAAGGACAGGGA CAAGAGGGAGTACAAGCATTCAGCAGCACTCACAAATATCACAGTGAAAA GAGCTTTCTTCGGAAGTTCATTTTGTCTCATTACTTGAACACTTAAGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(42): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02129.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 NA18944.hp1 NA18948.hp1 NA18968.hp2 NA18991.hp2 NA18992.hp2 NA19003.hp2 NA19064.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0006c0007t0013	a0001c0001t0003g0003 a0001c0001t0003g0039 a0001c0001t0003g0040 others(41): Show a0001c0001t0003g0003 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0009g0079 a0001c0001t0009g0080 a0001c0001t0009g0081 a0001c0001t0013g0057 a0006c0007t0013g0053	45	287	0.1568	499	c.25 others(510): Show c.2564_*2565insATGCTTAAGTGTTCAAGTAATGAGACAAAATGAA CTTCCGAAGAAAGCTCTTTTCACTGTGATATTTGTGAGTGCTGCTGAATG CTTGTACTCCCTCTTGTCCCTGTCCTTCTGTTAGCAGTTAAGGCAGAAAC CCTAGATGACCCCCAATGATTAATGCCCTATATAATCCCTTCCCTGAAGG TGGGCAAACTGAGACTGCTGCTAGCCAATAGACTATGGGCAAAGGTGATG GGATGTCACTCCCATGACTACATTATGTTATATAAGACTCTTAGCAGACT GGAGAGATTTTCCTTGCTGGTTTGATGAGTAAGCAGTCATATTGAAGAAG CCCATGTAGCAAGAGACTGCAGCTGGCTGATAGTACCTGAGGGAGCCCTG AGCTAAGACAATGGGACCTGAATGGAAAGATCCTGGTGACAAGAGGAGTG AAGAGAGACGAGTCCAATAGACCAAGCTACTTTTCCCCACAAGGAATATA CTAATTGGTAAATGG	ZNF674	ENSG00000251192.8	transcript	ENST00000683375.1	protein_coding		446		chrX	TogoVar

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