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
THADA_chr2_43225851_43601038	43431843	T T	TTTTTTTT others(180): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCGCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGATAATTTTTTGTAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0190 a0003c0002t0001g0190	1	204	0.0049	187	c.383 others(206): Show c.3837-1542_3837-1541insGTACAAAAAATTATCCGGGCGTGGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGCGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAT TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	26/37			chr2	TogoVar
THEG_chr19_356747_381026	377288	C C	CCGTGCCC others(180): Show CCGTGCCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTC CCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	211	0.0047	187	c.-13 others(198): Show c.-1319_-1318insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGG GGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGC ACG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1263		chr19	TogoVar
THEG_chr19_356747_381026	377412	T T	TCCCCCCC others(180): Show TCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	334	0.0030	187	c.-14 others(198): Show c.-1443_-1442insGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1387		chr19	TogoVar
THEG_chr19_356747_381026	377475	C C	CCCCACCC others(180): Show CCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0090 a0001c0001t0007g0090	1	330	0.0030	187	c.-15 others(198): Show c.-1506_-1505insCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGT GGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1450		chr19	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(180): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCC CGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTC CCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	318	0.0031	187	c.-15 others(198): Show c.-1533_-1532insCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGG GGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGG CACGGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGT GGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
TH_chr11_2158929_2176815	2161585	T T	TGTCCCCA others(180): Show TGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCC TGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCTGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGGACCCCTGTCCTCAGACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG03209.hp1 others(2): Show HG02717.hp2 HG02809.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0037 a0001c0002t0001g0015 a0001c0002t0001g0037	5	386	0.0130	187	c.26 others(198): Show c.2647_*2648insGGGGGTCTGAGGACAGGGGTCCTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCAGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CCCAGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGG GAC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2343		chr11	TogoVar
TMEM117_chr12_43831081_44394758	44027186	T T	TTTATTTT others(180): Show TTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATT TTATTTTATTTTATATTTTATTTTATTTTTTATTTTATTTTATTTTATTT TTTATTTTATTTTATTTTATTTTATTTTATTTTTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	79	0.0127	187	c.410 others(206): Show c.410+82857_410+82858insTTTTATTTTATTTTATTTATTTTATT TTATTTTATTTTATTTTATTTTATATTTTATTTTATTTTTTATTTTATTT TATTTTATTTTTTATTTTATTTTATTTTATTTTATTTTATTTTTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATTTTATTTTA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113812774	A A	AGGCCCCG others(180): Show AGGCCCCGGGTGGGTCACAGGACAGGTCTCAGGTGGGTCACAGGTCCTGA GTGGGTCACAGGTCCCGGGTGGGTCACAGGCATCCCGGGTGGGTCACAGG TCCCGAGTGGGTCACAGGCCCCGGGTGAGTCACAGGTCCCGGGTGGGTCA CAGGTCCCGGGTGGGTCACAGGCCCCGGGTGGGTCACG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0219 a0001c0001t0134g0219	1	258	0.0039	187	c.10 others(198): Show c.1006_*1007insTCCCGGGTGGGTCACAGGTCCCGGGTGGGTCACA GGCCCCGGGTGGGTCACGGGCCCCGGGTGGGTCACAGGACAGGTCTCAGG TGGGTCACAGGTCCTGAGTGGGTCACAGGTCCCGGGTGGGTCACAGGCAT CCCGGGTGGGTCACAGGTCCCGAGTGGGTCACAGGCCCCGGGTGAGTCAC AGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	1007	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMPRSS12_chr12_50837926_50892884	50872748	C C	CTATATAT others(180): Show CTATATATGTACATATATACGACGTATATATGTACATATATAGACGTCTA TATATGTACATATATATGACGTATATATGTACATATATAGACGTCTATAT ATGTACATATATATGACGTATATATGTACATATATATGACGTATATATGT ACATATATATACGTCTATATATGTACATATATATGACG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	357	0.0028	187	c.653 others(206): Show c.653-12480_653-12479insCGACGTATATATGTACATATATAGAC GTCTATATATGTACATATATATGACGTATATATGTACATATATAGACGTC TATATATGTACATATATATGACGTATATATGTACATATATATGACGTATA TATGTACATATATATACGTCTATATATGTACATATATATGACGTATATAT GTACATATATA	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418289	T T	TCCTTTTC others(180): Show TCCTTTTCCTTCCCTCCCTCCTTCCCTCCTTTTCCTTTCCTCCTTTTCCT TTCCTCCTTTTCCTTTCCTCCTTTCCTTCCCTTTCTCTCCTTTCCTTCCC TCCCTTTCCCTCCCTCCTTCCCTTTCCTTCCCTCCCTCCCCTTTCCTTCC CTCCCTCCTTTCCTTCCCTCCCTCTCCTTCCCTCCCTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0046 a0002c0005t0002g0046	1	110	0.0091	187	c.215 others(204): Show c.2154+156_2154+157insTCCTTCCCTCCCTCCTTCCCTCCTTTTC CTTTCCTCCTTTTCCTTTCCTCCTTTTCCTTTCCTCCTTTCCTTCCCTTT CTCTCCTTTCCTTCCCTCCCTTTCCCTCCCTCCTTCCCTTTCCTTCCCTC CCTCCCCTTTCCTTCCCTCCCTCCTTTCCTTCCCTCCCTCTCCTTCCCTC CCTACCTTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMTC1_chr12_29495840_29788942	29643719	T T	TATATAAA others(180): Show TATATAAATATATATTATATAATATAAATATATATATTTATTATAAATAT AAATATATATTTATAATAAATATATATATTTATTATAATATATATTTATA TTTATAATAAATATATATATTTATAATAAATATATATATTTATTATAAAT ATAAATATATATTATAATAAATATATATATTTATTATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02965.hp2 others(2): Show HG01891.hp1 HG02451.hp2 HG02965.hp2 HG03139.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0011 a0001c0007 a0002c0011	a0001c0007t0006 a0001c0007t0025 a0002c0011t0006 others(1): Show a0001c0007t0006 a0001c0007t0025 a0002c0011t0006 a0002c0011t0025	a0001c0007t0006g0006 a0001c0007t0025g0010 a0002c0011t0006g0217 others(2): Show a0001c0007t0006g0006 a0001c0007t0025g0010 a0002c0011t0006g0217 a0002c0011t0006g0219 a0002c0011t0025g0218	5	39	0.1282	187	c.939 others(206): Show c.939-10384_939-10383insTATAATAAATATATATATTTATTATA ATATATATTTATATTTATAATAAATATATATATTTATTATAAATATATAT ATTTATTATAAATATAAATATATATTATAATAAATATATATATTTATTAT AAATATATATTTATATTTATAATAAATATATATATTTATATTATATAATA TATATTTATAT	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TMTC3_chr12_88137307_88204887	88185706	C C	CTCCTGCC others(180): Show CTCCTGCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	239	0.0042	187	c.143 others(206): Show c.1433-3124_1433-3123insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTC CTGCCTTTCTT	TMTC3	ENSG00000139324.12	transcript	ENST00000266712.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPO_chr2_1408463_1548673	1537541	G G	GTGTGCAA others(180): Show GTGTGCAACCCCCCAAATCCAACACTGTGCAACCTCCCCAAATCCCATTG TGAGCAACCTCCCAAAATCCCCCCAGTGTGAGCAATGTCCCCAAATCCCC CCACTGTGAGCAACCTCCCAAAGTCCCCCCACTGTGTGCAACCTCCCCAA ATTCTTCCACTCTGTGCAGCCTCCCCAAATCCCAACTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01928.hp2 HG02004.hp2 others(2): Show HG01071.hp2 HG01928.hp2 HG02004.hp2 HG02451.hp1 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0002c0015 others(2): Show a0001c0001 a0002c0002 a0002c0015 a0006c0026 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0015t0003 others(2): Show a0001c0001t0003 a0002c0002t0003 a0002c0015t0003 a0006c0026t0003 a0008c0028t0003	a0001c0001t0003g0081 a0002c0002t0003g0063 a0002c0015t0003g0110 others(2): Show a0001c0001t0003g0081 a0002c0002t0003g0063 a0002c0015t0003g0110 a0006c0026t0003g0052 a0008c0028t0003g0003	5	118	0.0424	187	c.261 others(206): Show c.2619-3044_2619-3043insCCCCAAATCCAACACTGTGCAACCTC CCCAAATCCCATTGTGAGCAACCTCCCAAAATCCCCCCAGTGTGAGCAAT GTCCCCAAATCCCCCCACTGTGAGCAACCTCCCAAAGTCCCCCCACTGTG TGCAACCTCCCCAAATTCTTCCACTCTGTGCAGCCTCCCCAAATCCCAAC TCTGTGCAACC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537541	G G	GTGTGCAA others(180): Show GTGTGCAACCCCCCAAATCCAACACTGTGCAACCTCCCCAAATCCCATTG TGAGCAACCTCCCAAAATCCCCCCAGTGTGAGCAGTGTCCCCAAATCCCC CCACTGTGAGCAACCTCCCAAAGTCCCCCCACTGTGTGCAACCTCCCCAA ATTCTTCCACTCTGTGCAGCCTCCCCAAATCCCAACTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01928.hp1 HG01975.hp2 others(2): Show HG01069.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 others(2): Show a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060	5	118	0.0424	187	c.261 others(206): Show c.2619-3044_2619-3043insCCCCAAATCCAACACTGTGCAACCTC CCCAAATCCCATTGTGAGCAACCTCCCAAAATCCCCCCAGTGTGAGCAGT GTCCCCAAATCCCCCCACTGTGAGCAACCTCCCAAAGTCCCCCCACTGTG TGCAACCTCCCCAAATTCTTCCACTCTGTGCAGCCTCCCCAAATCCCAAC TCTGTGCAACC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPSD1_chr16_1251069_1264008	1258758	G G	GCCCCTCC others(180): Show GCCCCTCCCCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCA CCCTGAGCCCCTTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCTT CCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAG CCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0031 a0003c0006t0031	a0003c0006t0031g0026 a0003c0006t0031g0026	1	259	0.0039	187	c.38 others(196): Show c.382_*383insCCCCTCCCCCACCCTCAGCCCCCTCCCCTTTCTTGA GCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCTCCTCCA CCCTCAGCCCCTTCCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCCT CCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAG C	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	383		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258795	G G	GCCCTTCC others(180): Show GCCCTTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCAC CCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCT CCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCTTCCCCTTTCTTGAG TCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0020 a0001c0001t0041g0020	1	186	0.0054	187	c.41 others(196): Show c.419_*420insCCCTTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGA GCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCCCCCA CCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCTT CCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAG C	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	420		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258807	T T	TCCTGAGC others(180): Show TCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTT CCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGA GTCCCTCCTCCATCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTCCCCCAC CCTGAGCCCCTTCCCCTTTCTTGAGCCCCCTCCCCCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0001 a0001c0001t0057g0001	1	120	0.0083	187	c.45 others(196): Show c.456_*457insTCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGA GCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCTCCA TCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCTT CCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGA G	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	457	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM46_chr1_155168849_155189970	155189880	C C	CGTGGGAG others(180): Show CGTGGGAGGGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGGTGACACCG TGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGA GGTGACACCGTGGGCTGCGGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTC TCCGGGGCCGAGGGTGACACCGTGGGCTGGGGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	344	0.0029	187	c.56 others(198): Show c.5690_*5691insGTGGGAGGGCCCGGGGCCGGCCTGCTCTCCGGGG CCGAGGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGGCGCGGTGGAGCCC GGGGCCGGCCTGCTCTCCGGGGCCGAGGGTGACACCGTGGGCTGGGGGGG GCG	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4911		chr1	TogoVar
TSHZ2_chr20_52967358_53500330	53005902	C C	CAAGAAAT others(180): Show CAAGAAATAATCCCATTAGTGGGTGCAGCGCACCAGCATGGCACATGTAT ACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAG TATAATAAAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAAATC TACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	174	0.0057	187	c.40+ others(204): Show c.40+32583_40+32584insTTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGA TAAAATCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA ATAATCCCA	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN9_chr12_3072379_3291559	3197882	C C	CACCAGCA others(180): Show CACCAGCACAGGTCACCACCAGCACAGGTCACCACCAGCACAGGCCACCA CCAGCACAGGTCACCAGCACAGGCCACCACCAGCACAGGTCACCATCAGC ACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCAC AGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0084 a0001c0001t0012g0084	1	286	0.0035	187	c.-17 others(204): Show c.-17-3295_-17-3294insACCAGCACAGGTCACCACCAGCACAGGT CACCACCAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCA CCAGCACAGGTCACCATCAGCACAGGCCACCACCAGCACAGGTCACCACC AGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAG CACAGGTCA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3198659	C C	CTCACCAC others(180): Show CTCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGT CACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCAC CACCAGCACAGGTCACCAGCACAGGCCACCACCAGCACAGGTCACACCAG CACAGGCCACCACCAGCACAGGCCACCACCAGCACAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0219	1	270	0.0037	187	c.-17 others(204): Show c.-17-2503_-17-2502insCTCACCACCAGCACAGGCCACCACCAGC ACAGGTCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAGCACA GGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCACAGGTCA CACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCA CCAGCACAG	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3198707	G G	GTCACACC others(180): Show GTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTC ACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACC AGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAG CACAGGTCACCACCAGCACAGGCCACCACCAGCACAGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02809.hp2 HG02055.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0092 a0001c0001t0003 a0001c0001t0017 a0001c0001t0092	a0001c0001t0003g0073 a0001c0001t0017g0119 a0001c0001t0092g0280 a0001c0001t0003g0073 a0001c0001t0017g0119 a0001c0001t0092g0280	3	282	0.0106	187	c.-17 others(204): Show c.-17-2470_-17-2469insTCACACCAGCACAGGCCACCACCAGCAC AGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCACAGGTC ACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACC ACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCAC CAGCACAGC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
TUBB2B_chr6_3219277_3232653	3221996	A A	ACCATCAC others(180): Show ACCATCACCACCACTACCACCACCACCACCACTACCACCATCGCCACCAC CACCATCACCACCACCACCACCACCACACTACCACCACCACCATCACCAT CATCATCACCACCACCACGACCACCACAACACTACCACATCACCACCACC ATCACCACCACCACCATCACCACCACTACCACCACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03130.hp1 HG02109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	22	0.0909	187	c.27 others(198): Show c.2754_*2755insATTGTGGTGGTAGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGAT GATGATGGTGATGGTGGTGGTGGTAGTGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGCGATGGTGGTAGTGGTGGTGGTGGTGGTAGTGGTGGTGA TGG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2280		chr6	TogoVar
TUBGCP3_chr13_112480011_112593153	112539838	G G	GCAGTAGC others(180): Show GCAGTAGCCTATGAGCATTCAGATGGTCTTGGGAAAGGATACCTGGGAAT GATGACATCAATGTAGTAGCCTATGAGCCTTCAGGTGGTCTTGGGAAAGG ACACCTGGGAATGAGGACGTCAATGTAGTAGCCCTATGAGCATTCAGATG ATCTTGGGAAAGGACACCTGGGAATGAGGATGTCAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp2 others(67): Show HG00280.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01943.hp1 HG01952.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02738.hp1 HG02895.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG04199.hp1 NA18522.hp1 NA18943.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0030 a0001c0001t0002g0001 a0001c0001t0002g0002 others(65): Show a0001c0001t0001g0030 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0112 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0004g0032 a0001c0001t0006g0087 a0001c0001t0007g0022 a0001c0002t0002g0026 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0092 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0076 a0001c0003t0002g0081 a0001c0003t0002g0154	70	305	0.2295	187	c.133 others(206): Show c.1335+5860_1335+5861insTATTGACATCCTCATTCCCAGGTGTC CTTTCCCAAGATCATCTGAATGCTCATAGGGCTACTACATTGACGTCCTC ATTCCCAGGTGTCCTTTCCCAAGACCACCTGAAGGCTCATAGGCTACTAC ATTGATGTCATCATTCCCAGGTATCCTTTCCCAAGACCATCTGAATGCTC ATAGGCTACTG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TUBGCP5_chr15_22994177_23044569	23044427	G G	GGCAGGAG others(180): Show GGCAGGAGGTGCTGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAG AGGTGCTGGGGGTGACTTCATAAATGTCACCTGGACAGAGGTGCTGGGGG GACATCATAACTTCACCTGGCCAGAGGTGCTGGGGGGTATCATAATCCCA CCTGGCCAGAGATGCTGGGGGGCATCATAACCCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG03492.hp2 NA18947.hp2 others(2): Show HG00673.hp2 HG03492.hp2 NA18947.hp2 NA19005.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0016 a0001c0002t0002g0076 others(2): Show a0001c0001t0001g0001 a0001c0002t0002g0016 a0001c0002t0002g0076 a0001c0002t0002g0087 a0001c0002t0002g0090	5	333	0.0150	187	c.-48 others(198): Show c.-4885_-4884insAGGTGGGGTTATGATGCCCCCCAGCATCTCTGGC CAGGTGGGATTATGATACCCCCCAGCACCTCTGGCCAGGTGAAGTTATGA TGTCCCCCCAGCACCTCTGTCCAGGTGACATTTATGAAGTCACCCCCAGC ACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCAGCACCTCC TGC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4859		chr15	TogoVar
TYMS_chr18_652653_678578	666999	A A	AGATGGAG others(180): Show AGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGAGATGGAG ATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGAGATGGGTGATG GTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	397	0.0025	187	c.455 others(204): Show c.455-2068_455-2067insAGATGGTGATGGTGATGGTGATGGTGAT GGAGATGGAGATGGAGATGGAGATGGTGATGGTGATGGTGATGGTGATGG AGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGAG ATGGAGATGGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGA TGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UCP3_chr11_73995277_74014085	73998980	G G	GGTGCAGT others(180): Show GGTGCAGTGGTGTAAGCTCGGCTCACTGCAACCTCCGCCTCCTGGGCTCA AGTGATCCTCCCACCTGAGCCCCCCGAGTAGCTGGGACCGCAGGCGCATG TCACCATGCCTGGCTAAAAAGGGAAACTTTTAATTTAATTCAATTCAATT TAATTTTTTTTTTGAGACAGAGTCTCGCCTAGGCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG02145.hp2 others(13): Show HG01106.hp1 HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03471.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0001c0003 a0011c0019 a0001c0002 a0001c0003 a0011c0019	a0001c0002t0004 a0001c0003t0003 a0011c0019t0004 a0001c0002t0004 a0001c0003t0003 a0011c0019t0004	a0001c0002t0004g0008 a0001c0002t0004g0055 a0001c0002t0004g0101 others(4): Show a0001c0002t0004g0008 a0001c0002t0004g0055 a0001c0002t0004g0101 a0001c0003t0003g0027 a0001c0003t0003g0037 a0001c0003t0003g0070 a0011c0019t0004g0087	16	444	0.0360	187	c.24 others(198): Show c.2431_*2432insTCCAGCCTAGGCGAGACTCTGTCTCAAAAAAAAA ATTAAATTGAATTGAATTAAATTAAAAGTTTCCCTTTTTAGCCAGGCATG GTGACATGCGCCTGCGGTCCCAGCTACTCGGGGGGCTCAGGTGGGAGGAT CACTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCGAGCTTACACCACTG CAC	UCP3	ENSG00000175564.13	transcript	ENST00000314032.9	protein_coding		1296		chr11	TogoVar
UCP3_chr11_73995277_74014085	73999075	A A	ACATGTCA others(180): Show ACATGTCACCATGCCTGGCTAAAAAGGGAAACTTTTAATTTAATTCAATT CAATTTAATTTTTTTTTTGAGACAGAGTCTCGCCTAGGCTGGAGTGCAGT GGTGTAAGCTCGGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGTGATCC TCCCACCTGAGCCCCCCGAGTAGCTGGGACCGCAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02717.hp1 others(2): Show HG01243.hp2 HG02451.hp1 HG02717.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0010 a0001c0005t0001 a0001c0003t0001 a0001c0003t0010 a0001c0005t0001	a0001c0003t0001g0059 a0001c0003t0010g0129 a0001c0005t0001g0020 a0001c0003t0001g0059 a0001c0003t0010g0129 a0001c0005t0001g0020	5	182	0.0275	187	c.23 others(198): Show c.2336_*2337insCGCCTGCGGTCCCAGCTACTCGGGGGGCTCAGGT GGGAGGATCACTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCCGAGCTTA CACCACTGCACTCCAGCCTAGGCGAGACTCTGTCTCAAAAAAAAAATTAA ATTGAATTGAATTAAATTAAAAGTTTCCCTTTTTAGCCAGGCATGGTGAC ATG	UCP3	ENSG00000175564.13	transcript	ENST00000314032.9	protein_coding		1201		chr11	TogoVar
UNC5D_chr8_35230475_35801540	35497065	T T	TGAAGGCT others(180): Show TGAAGGCTTGCTCTTTCGCCCAGGCCGGAGTGCAGTGGCGCTATCTCGGC TCACTGCAAGCTCCGCCTCCAGGATTCACACCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACCACAGGTGCCCGCCACCGCTCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	64	0.0156	187	c.104 others(206): Show c.104-52223_104-52222insGCTTGCTCTTTCGCCCAGGCCGGAGT GCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCAGGATTCACAC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCGCCA CCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCGAAG	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX2_chrX_8164944_8176267	8169884	C C	CCACCTCT others(180): Show CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACC TCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA18951.hp1 NA19065.hp1 HG02523.hp2 NA18951.hp1 NA19065.hp1	a0001 a0018 a0001 a0018	a0001c0002 a0018c0022 a0001c0002 a0018c0022	a0001c0002t0001 a0018c0022t0001 a0001c0002t0001 a0018c0022t0001	a0001c0002t0001g0001 a0018c0022t0001g0047 a0001c0002t0001g0001 a0018c0022t0001g0047	3	99	0.0303	187	c.14 others(196): Show c.147_*148insTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT G	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		59		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466604	T T	TGGGGAGG others(180): Show TGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	243	0.0041	187	c.22 others(196): Show c.221_*222insGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG GGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGA G	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		95		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466803	G G	GGTGGTGT others(180): Show GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	258	0.0039	187	c.42 others(196): Show c.420_*421insGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGA A	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		294		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGACAGA others(180): Show GAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGACAGAGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGGACAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	221	0.0045	187	c.375 others(200): Show c.375-61_375-60insAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGACAGAGAGTGAGAGAGAGAGAGAGAGAG AGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGACAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG AGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCTC others(180): Show CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	208	0.0048	187	c.200 others(204): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCTCC TCCTCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCCTC others(180): Show CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	156	0.0064	187	c.200 others(204): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCC TCCTCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCTCC others(180): Show CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0051 a0004c0006t0003g0051	1	156	0.0064	187	c.200 others(204): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTC CTCCTCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(180): Show ATCATATATATATCATATATATATCATATATGATACATATATATATGATA CATGTATCATATATGATACATATATATCATATATATGATACATATATATC ATATATATGATACATATATATCATATATATGATACATATATATCTCATAT ATGATACATATATATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	135	0.0074	187	c.856 others(204): Show c.856+1989_856+1990insATATCATATATATATCATATATGATACA TATATATATGATACATGTATCATATATGATACATATATATCATATATATG ATACATATATATCATATATATGATACATATATATCATATATATGATACAT ATATATCTCATATATGATACATATATATCTCATATATGATACATATATAT CTCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSIG10L_chr19_51326541_51347139	51345864	T T	TGAACCCT others(180): Show TGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCT GAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCCCTGAACCC TCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCCTATAGGCTGAGATG ATGCGCTGAACCCTCCCTATAGACTGAGATGATGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	165	0.0061	187	c.-37 others(198): Show c.-3741_-3740insTGCGCATCATCTCAGTCTATAGGGAGGGTTCAGC GCATCATCTCAGCCTATAGGGGAGGGTTCAGCGCATCATCTCAGCCTATA GGGAGGGTTCAGGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCA TCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGG TTC	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3726		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(180): Show ATATATAATATATATATATAATATATATATATATAATATATATATATATT ATATATATATAATATATATATTATATATATATATATTATATATATATAAT ATATATTATATATATAATATATATATAATATATATATATTATATATATAT AATATATATATTATATATATATAATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	147	0.0068	187	c.38 others(198): Show c.3884_*3885insAATATATATATATATTATATATATATAATATATA TATTATATATATATAATATATATATATTATATATATATTATATATATAAT ATATATTATATATATATAATATATATATATATAATATATATATTATATAT ATATAATATATATATATATTATATATATATATATTATATATATATATTAT ATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
ZMYND8_chr20_47204214_47361699	47225596	A A	AGGAAGGG others(180): Show AGGAAGGGGAAGGGAGGGGAATGAAGGGGAAGGAAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA GGAGGGAAAGGGAGGGCAGGGGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	39	0.0256	187	c.301 others(206): Show c.3017-1041_3017-1040insCCTCCCCTCCCCTCCCCCCCTGCCCT CCCTTTCCCTCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCC CTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCC CTTCCCCTCCCTTCCCCTCCCTTCCCCTTCCTTCCCCTTCATTCCCCTCC CTTCCCCTTCC	ZMYND8	ENSG00000101040.20	transcript	ENST00000471951.7	protein_coding	18/22			chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63965932	T T	TTCCTCCC others(180): Show TTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCC TCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCC CGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGAC CTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03942.hp2 NA20905.hp1 HG03654.hp1 HG03942.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0036 a0001c0002t0005g0037 a0001c0002t0005g0036 a0001c0002t0005g0037	3	351	0.0085	187	c.103 others(204): Show c.1034+208_1034+209insGGAACAGTGGTGAGAAAAGGTATGGGGG CTCGTCCCAGGTCGGGGAGGAACAGTGGTAAGAAAAGGTATGGGGGCTCG TCCCAGGTCGGGGAGGAACAGTGGTAAGAAAAGGTATGGGGGCTCGTCCC AGGTCGGGGAGGAACAGTGGTAAGAAAAGGTATGGGGGCTCGTCCCAGGT CGGGGAGGA	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
AATK_chr17_81112295_81171221	81140753	G G	GCCGTGGG others(181): Show GCCGTGGGGACCGTGAGCTGTGAGCCGTGAGCCGTGGGGCCGTGGGGCCG TGGGGCCGTGGGACCATGGGGCCGTGAGCCGTGGGGACCGTGAGCCGTGG GGCCGTGGGACCATGGGGCCGTGAGCCGTGGGGACCGTGAGCCGTGGGGC CGTGGGGCCGTGGGACCATGGGGCCGTGAGCCGTGGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG03471.hp2 others(1): Show HG02055.hp1 HG02451.hp1 HG03471.hp2 HG03486.hp1	a0015 a0028 a0029 a0015 a0028 a0029	a0015c0028 a0028c0068 a0029c0067 a0015c0028 a0028c0068 a0029c0067	a0015c0028t0001 a0028c0068t0004 a0029c0067t0004 a0015c0028t0001 a0028c0068t0004 a0029c0067t0004	a0015c0028t0001g0342 a0015c0028t0001g0343 a0028c0068t0004g0227 others(1): Show a0015c0028t0001g0342 a0015c0028t0001g0343 a0028c0068t0004g0227 a0029c0067t0004g0333	4	365	0.0110	188	c.56- others(203): Show c.56-6253_56-6252insTCCCCACGGCTCACGGCCCCATGGTCCCAC GGCCCCACGGCCCCACGGCTCACGGTCCCCACGGCTCACGGCCCCATGGT CCCACGGCCCCACGGCTCACGGTCCCCACGGCTCACGGCCCCATGGTCCC ACGGCCCCACGGCCCCACGGCCCCACGGCTCACGGCTCACAGCTCACGGT CCCCACGG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958576	T T	TAATATAA others(181): Show TAATATAATTATATATAATATATAATATATAATATAATTATATATAATAT ATAATATATAATATAATTATATATAATATATAATATATAATATAATTATA TATAATATATAATATATAATATAATTATATATAATATATAATATATAATA TAATTATATATAATATATAATATATAATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0115 a0005c0009t0001g0115	1	248	0.0040	188	c.-35 others(199): Show c.-3525_-3524insTTTATATATATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TTATATATAATTATATTATATATTATATATTATATATAATTATATTATAT ATTATATATTATATATAATTATATTATATATTATATATTATATATAATTA TATT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3185		chr17	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(181): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0009 a0009	a0009c0044 a0009c0044	a0009c0044t0007 a0009c0044t0007	a0009c0044t0007g0087 a0009c0044t0007g0087	1	228	0.0044	188	c.130 others(207): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATAT AAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACACB_chr12_109111587_109273226	109210036	T T	TATATACG others(181): Show TATATACGTATATACACACGTGTGTATATACGTATATACACACGTGTGTA TATACGTATATACACACGTGTGTATATACGTATATACACACGTGTGTATA TACGTATATACACACGTGTGTATATACGTATATACACACGTGTGTATATA CACGTACATATGTGTATATATGTGTATATACACACGTAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01106.hp1 others(4): Show HG00642.hp2 HG01069.hp2 HG01106.hp1 HG02040.hp2 HG02083.hp2 NA18980.hp1 NA19003.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0037	a0001c0002 a0003c0001 a0004c0008 others(1): Show a0001c0002 a0003c0001 a0004c0008 a0037c0100	a0001c0002t0001 a0003c0001t0001 a0004c0008t0001 others(1): Show a0001c0002t0001 a0003c0001t0001 a0004c0008t0001 a0037c0100t0001	a0001c0002t0001g0035 a0003c0001t0001g0062 a0003c0001t0001g0140 others(4): Show a0001c0002t0001g0035 a0003c0001t0001g0062 a0003c0001t0001g0140 a0003c0001t0001g0158 a0003c0001t0001g0264 a0004c0008t0001g0222 a0037c0100t0001g0070	7	242	0.0289	188	c.324 others(205): Show c.3249+687_3249+688insACGTATATACACACGTGTGTATATACGT ATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTAT ATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTATAT ACACACGTGTGTATATACACGTACATATGTGTATATATGTGTATATACAC ACGTACATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288445	C C	CTCTGCCC others(181): Show CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	293	0.0034	188	c.51 others(199): Show c.5118_*5119insCACGGGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGG CAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3945		chr1	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(181): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATG CATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACG TATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATA CCTATATGCATGTATATGTACGTATACGTACATATACCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02145.hp1 HG03942.hp2 others(1): Show HG01123.hp2 HG02145.hp1 HG03942.hp2 HG04184.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0021 a0001c0001 a0008c0021	a0001c0001t0003 a0008c0021t0003 a0001c0001t0003 a0008c0021t0003	a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0182 others(1): Show a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0182 a0008c0021t0003g0155	4	60	0.0667	188	c.137 others(209): Show c.1373-18408_1373-18407insGCATGTATATGTACGTATACGTAC ATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGC ATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGT ATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATAC CTATATGCATGTAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRD1_chr12_130948907_131146469	131129443	T T	TGTGAGTG others(181): Show TGTGAGTGACAGGCCCGCCCTGCTGTCTGGGTGTGAGTGACAGCCCCCCC CTCCTGTCTGGGTGTGAGTGACAGGCCGGCCCTGCTGTCTGGGTGTGAGT GACAGGCCCGCCCTGCTGTCTGGGTGTGAGTAACAGCCCCGCCCTGCTCT CTGGGTGTGAATGACAGCCCCGCCCTGCTCTGGGTGTGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01069.hp1 others(15): Show HG00621.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01175.hp1 HG01515.hp2 HG02155.hp1 HG02451.hp1 HG02602.hp2 HG02735.hp2 HG02818.hp1 NA18612.hp2 NA18973.hp2 NA19010.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0027 a0001c0003t0004 a0001c0003t0006 others(6): Show a0001c0001t0027 a0001c0003t0004 a0001c0003t0006 a0001c0003t0019 a0001c0003t0035 a0001c0003t0041 a0001c0003t0045 a0001c0009t0014 a0001c0009t0019	a0001c0001t0027g0118 a0001c0003t0004g0101 a0001c0003t0004g0108 others(15): Show a0001c0001t0027g0118 a0001c0003t0004g0101 a0001c0003t0004g0108 a0001c0003t0006g0015 a0001c0003t0006g0019 a0001c0003t0006g0058 a0001c0003t0006g0092 a0001c0003t0006g0186 a0001c0003t0006g0211 a0001c0003t0006g0215 a0001c0003t0006g0216 a0001c0003t0019g0218 a0001c0003t0035g0200 a0001c0003t0041g0079 a0001c0003t0045g0042 a0001c0009t0014g0037 a0001c0009t0014g0077 a0001c0009t0019g0137	18	238	0.0756	188	c.217 others(207): Show c.2176-2278_2176-2277insGTGACAGGCCCGCCCTGCTGTCTGGG TGTGAGTGACAGCCCCCCCCTCCTGTCTGGGTGTGAGTGACAGGCCGGCC CTGCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGGTGTGAGT AACAGCCCCGCCCTGCTCTCTGGGTGTGAATGACAGCCCCGCCCTGCTCT GGGTGTGAGTGA	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AFF2_chrX_148495617_149005663	148581272	A A	ATATACGT others(181): Show ATATACGTATACGTATACACACATATACGTATACGTATACACACATATAC GTATACGTATACACACATATACGTATACGTATACACACATATACGTATAC GTATACACACATATACGTATACGTATACACACATATACGTATACGTATAC ACACATATACGTATACGTATACACACATATACGTATACG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0107 a0001c0002t0018g0107	1	165	0.0061	188	c.48- others(205): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACACACATATACGTATACGTATACACACATATACGTATACGTATAC ACACATATACGTATACGTATACACACATATACGTATACGTATACACACAT ATACGTATACGTATACACACATATACGTATACGTATACACACATATACGT ATACGTATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AK3_chr9_4704556_4746202	4735390	A A	AATATATA others(181): Show AATATATATACATATATAAATATATATACATATATAAATATATATACATA TATAAATATATATACATATATAAATATATATACATATATAAATATATATA CATATATAAATATATATACATATATAAATATATATATACATATATAAATA TATATATACATATATAAATATATATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	446	0.0022	188	c.151 others(205): Show c.151+5546_151+5547insATTTATATATGTATATATATATTTATAT ATGTATATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATGTAT ATATATTTATATATGTATATATATTTATATATGTATATATATTTATATAT GTATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar

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