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
THAP11_chr16_67837320_67849195	67841010	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	7	0.1429	26	c.-15 others(37): Show c.-1545_-1544insATATATATATATATATATATATATAT	THAP11	ENSG00000168286.3	transcript	ENST00000303596.3	protein_coding		1309		chr16	TogoVar
THAP4_chr2_241579405_241642158	241585912	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0348 a0001c0002t0001g0348	1	266	0.0038	26	c.161 others(45): Show c.1615-1188_1615-1187insTTTTTTTTTTTTTTTTTTTTTTTTTT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP5_chr7_108557132_108574706	108558377	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	334	0.0030	26	c.58 others(37): Show c.5813_*5814insTATATATATATATATATATATACACA	THAP5	ENSG00000177683.14	transcript	ENST00000415914.4	protein_coding		3754		chr7	TogoVar
THAP5_chr7_108557132_108574706	108558377	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG02145.hp2 others(7): Show HG01106.hp2 HG01167.hp1 HG02145.hp2 HG02647.hp1 HG02717.hp1 HG03130.hp2 HG03516.hp1 HG04184.hp1 NA19002.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0034 a0001c0001t0003 a0001c0001t0015 a0001c0001t0034	a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0015g0028 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0015g0028 a0001c0001t0034g0048	10	343	0.0292	26	c.58 others(37): Show c.5813_*5814insTATATATATATATATATATACACACA	THAP5	ENSG00000177683.14	transcript	ENST00000415914.4	protein_coding		3754		chr7	TogoVar
THAP5_chr7_108557132_108574706	108558377	G G	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	334	0.0030	26	c.58 others(37): Show c.5813_*5814insTATATATATATATATATACACACACA	THAP5	ENSG00000177683.14	transcript	ENST00000415914.4	protein_coding		3754		chr7	TogoVar
THBS1_chr15_39576079_39604466	39581639	C C	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 NA19004.hp2 HG01243.hp1 HG02615.hp2 NA19004.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0009 a0002c0003 a0005c0009	a0002c0003t0012 a0005c0009t0015 a0002c0003t0012 a0005c0009t0015	a0002c0003t0012g0028 a0005c0009t0015g0064 a0002c0003t0012g0028 a0005c0009t0015g0064	3	245	0.0122	26	c.-29 others(41): Show c.-29-186_-29-161dupTCTCTCTCTCTCTCTCTCTCTCTCTC	THBS1	ENSG00000137801.11	transcript	ENST00000260356.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
THBS2_chr6_169210785_169258846	169242988	C C	CCACTCCC others(19): Show CCACTCCCACCTTCCCACCTTCCCACT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	372	0.0027	26	c.695 others(43): Show c.695-1031_695-1030insAGTGGGAAGGTGGGAAGGTGGGAGTG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS4_chr5_80030348_80088287	80080579	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02155.hp2 HG02523.hp2 others(1): Show HG02056.hp2 HG02155.hp2 HG02523.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0094 a0001c0001t0001g0105	4	121	0.0331	26	c.268 others(43): Show c.2684+527_2684+528insTTTTTTTTTTTTTTTTTTTTTTTTTT	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
THEG_chr19_356747_381026	376674	T T	TCCAGCCT others(19): Show TCCAGCCTATCCCCCCCTGTGCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG03225.hp2 HG02818.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0027 a0001c0001t0008 a0001c0001t0009 a0001c0001t0027	a0001c0001t0008g0131 a0001c0001t0009g0118 a0001c0001t0027g0119 a0001c0001t0008g0131 a0001c0001t0009g0118 a0001c0001t0027g0119	3	353	0.0085	26	c.-70 others(35): Show c.-705_-704insGTGGGGCACAGGGGGGGATAGGCTGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		649		chr19	TogoVar
THEG_chr19_356747_381026	376674	T T	TCCAGCCT others(19): Show TCCAGCCTCTCCCCCTCTGTGCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0159 a0001c0001t0006g0159	1	351	0.0028	26	c.-70 others(35): Show c.-705_-704insGTGGGGCACAGAGGGGGAGAGGCTGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		649		chr19	TogoVar
THEG_chr19_356747_381026	376716	G G	GTGTGCCC others(19): Show GTGTGCCCCACCCAGCCTCTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	205	0.0049	26	c.-74 others(35): Show c.-747_-746insGAGGGGGAGAGGCTGGGTGGGGCACA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		691		chr19	TogoVar
THEG_chr19_356747_381026	376840	T T	TCCCCCCT others(19): Show TCCCCCCTGTGCCCCACCCAGCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02559.hp2 HG02622.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0006 a0004c0008t0001 a0001c0001t0006 a0004c0008t0001	a0001c0001t0006g0169 a0004c0008t0001g0161 a0001c0001t0006g0169 a0004c0008t0001g0161	2	342	0.0058	26	c.-87 others(35): Show c.-871_-870insGAGAGGCTGGGTGGGGCACAGGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		815		chr19	TogoVar
THEG_chr19_356747_381026	376976	C C	CCTGTGCC others(19): Show CCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0282 a0003c0003t0001g0282	1	240	0.0042	26	c.-10 others(37): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		951		chr19	TogoVar
THEG_chr19_356747_381026	377004	T T	TGTGCCCC others(19): Show TGTGCCCCACCCAGCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	358	0.0028	26	c.-10 others(37): Show c.-1035_-1034insGGGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		979		chr19	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCACCC others(19): Show CCCCACCCAGCCTCTCCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0157 a0003c0003t0015g0157	1	317	0.0032	26	c.-11 others(37): Show c.-1168_-1167insCACAGGGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCCACC others(19): Show CCCCCACCCAGCCTCTCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	317	0.0032	26	c.-11 others(37): Show c.-1168_-1167insCACAGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar
THEG_chr19_356747_381026	377158	T T	TCTGTGCC others(19): Show TCTGTGCCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	340	0.0029	26	c.-11 others(37): Show c.-1189_-1188insGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1133		chr19	TogoVar
THEG_chr19_356747_381026	377184	T T	TCTGTGCC others(19): Show TCTGTGCCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	349	0.0029	26	c.-12 others(37): Show c.-1215_-1214insGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1159		chr19	TogoVar
THEG_chr19_356747_381026	377184	T T	TGTGTGCC others(19): Show TGTGTGCCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	349	0.0029	26	c.-12 others(37): Show c.-1215_-1214insGGGGGAGAGGCTGGGTGGGGGCACAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1159		chr19	TogoVar
THEG_chr19_356747_381026	377204	T T	TCCCCCCC others(19): Show TCCCCCCCGTGCCCCACCCAGCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0119 a0001c0001t0027g0119	1	325	0.0031	26	c.-12 others(37): Show c.-1235_-1234insGAGAGGCTGGGTGGGGCACGGGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1179		chr19	TogoVar
THEG_chr19_356747_381026	377209	C C	CCTGTGCC others(19): Show CCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	199	0.0050	26	c.-12 others(37): Show c.-1240_-1239insAGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1184		chr19	TogoVar
THEG_chr19_356747_381026	377214	G G	GCCCCACC others(19): Show GCCCCACCCAGCCTCTCCCCCCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0016 a0002c0002t0003g0016	1	319	0.0031	26	c.-12 others(37): Show c.-1245_-1244insGCACAGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1189		chr19	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCCACC others(19): Show CCCCCACCCAGCCTCTCCCCCCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0259	1	333	0.0030	26	c.-13 others(37): Show c.-1351_-1350insCACACGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1295		chr19	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCCACC others(19): Show CCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	333	0.0030	26	c.-13 others(37): Show c.-1351_-1350insCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1295		chr19	TogoVar
THEG_chr19_356747_381026	377340	C C	CCTGTGCC others(19): Show CCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	168	0.0060	26	c.-13 others(37): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1315		chr19	TogoVar
THEG_chr19_356747_381026	377368	T T	TGTGCCCC others(19): Show TGTGCCCCACCCAGCCTCTCCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	356	0.0028	26	c.-13 others(37): Show c.-1399_-1398insGGGGGCGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1343		chr19	TogoVar
THEG_chr19_356747_381026	377417	C C	CCTGTGCC others(19): Show CCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG03239.hp2 HG01975.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0188 a0001c0001t0003g0228 a0001c0001t0001g0188 a0001c0001t0003g0228	2	140	0.0143	26	c.-14 others(37): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1392		chr19	TogoVar
THEG_chr19_356747_381026	377445	T T	TGTGCCCC others(19): Show TGTGCCCCACCCAGCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	356	0.0028	26	c.-14 others(37): Show c.-1476_-1475insGGGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1420		chr19	TogoVar
THEG_chr19_356747_381026	377475	C C	CCCCACCC others(19): Show CCCCACCCAGCCTCTCCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	330	0.0030	26	c.-15 others(37): Show c.-1506_-1505insCACAGGGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1450		chr19	TogoVar
THEG_chr19_356747_381026	377475	C C	CCCCCACC others(19): Show CCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02976.hp1 HG01981.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0261 a0001c0001t0003g0156 a0001c0001t0001g0261 a0001c0001t0003g0156	2	331	0.0060	26	c.-15 others(37): Show c.-1506_-1505insCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1450		chr19	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCCACC others(19): Show CCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	318	0.0031	26	c.-15 others(37): Show c.-1533_-1532insCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
THEG_chr19_356747_381026	377577	T T	TGTGCCCC others(19): Show TGTGCCCCACCCAGCCTCTCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG04184.hp1 HG01891.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0301 a0001c0004t0002g0042 a0001c0001t0001g0301 a0001c0004t0002g0042	2	351	0.0057	26	c.-16 others(37): Show c.-1608_-1607insGGGGGGAGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1552		chr19	TogoVar
THEG_chr19_356747_381026	377620	C C	CTCCCCCT others(19): Show CTCCCCCTCTGTGCCCCACCCAGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	368	0.0027	26	c.-16 others(37): Show c.-1651_-1650insCAGGCTGGGTGGGGCACAGAGGGGGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1595		chr19	TogoVar
THEM4_chr1_151865866_151914511	151878889	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01516.hp2 HG01517.hp1 others(12): Show HG01358.hp1 HG01516.hp2 HG01517.hp1 HG02071.hp1 HG02165.hp1 HG02257.hp1 HG02559.hp2 HG02602.hp1 NA18906.hp1 NA18959.hp1 NA18963.hp1 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0051	a0001c0001t0002g0042 a0001c0001t0002g0221 a0001c0001t0003g0005 others(5): Show a0001c0001t0002g0042 a0001c0001t0002g0221 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0005g0186 a0001c0001t0006g0134 a0001c0001t0006g0165 a0001c0001t0051g0212	15	73	0.2055	26	c.558 others(43): Show c.558-1765_558-1764insGTGTGTGTGTGTGTGTGTGTGTGTGT	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding	4/5			chr1	TogoVar
THEMIS_chr6_127703200_127906058	127731864	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01099.hp1 others(8): Show HG00280.hp2 HG00323.hp2 HG01099.hp1 HG01346.hp2 HG01358.hp2 HG02145.hp1 HG02145.hp2 HG02615.hp2 HG03130.hp2 HG06807.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0002c0001t0001	a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0003g0127 others(8): Show a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0003g0127 a0001c0003t0003g0008 a0002c0001t0001g0002 a0002c0001t0001g0086 a0002c0001t0001g0095 a0002c0001t0001g0098 a0002c0001t0001g0108 a0002c0001t0001g0119 a0002c0001t0001g0121	11	16	0.6875	26	c.175 others(47): Show c.1759-12042_1759-12041insAAAAAAAAAAAAAAAAAAAAAAAA AA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THOP1_chr19_2780503_2820807	2820684	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp1 NA18522.hp2 others(2): Show HG02622.hp1 HG02647.hp1 NA18522.hp2 NA18980.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0030 a0001c0001t0002 a0001c0001t0014 a0001c0001t0030	a0001c0001t0002g0009 a0001c0001t0002g0090 a0001c0001t0002g0212 others(2): Show a0001c0001t0002g0009 a0001c0001t0002g0090 a0001c0001t0002g0212 a0001c0001t0014g0021 a0001c0001t0030g0170	5	195	0.0256	26	c.74 others(37): Show c.7408_*7409insTTTTTTTTTTTTTTTTTTTTTTTTTT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		4878		chr19	TogoVar
THRAP3_chr1_36219443_36310357	36253760	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	28	0.0357	26	c.-13 others(45): Show c.-134-5603_-134-5602insTTTTTTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRAP3_chr1_36219443_36310357	36292256	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	103	0.0097	26	c.191 others(43): Show c.1919-339_1919-338insTTTTTTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRB_chr3_24112153_24499850	24168489	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02809.hp2 NA20129.hp2 HG02015.hp2 HG02809.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0041 a0001c0002t0015 a0001c0001t0001 a0001c0001t0041 a0001c0002t0015	a0001c0001t0001g0042 a0001c0001t0041g0017 a0001c0002t0015g0155 a0001c0001t0001g0042 a0001c0001t0041g0017 a0001c0002t0015g0155	3	166	0.0181	26	c.284 others(45): Show c.284-16000_284-15999insTATATATATATATATATATATATATA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24188858	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02622.hp1 others(9): Show HG01243.hp2 HG02145.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG03130.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 NA18991.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0028 a0001c0001t0037 a0001c0001t0042 a0001c0002t0003 a0001c0002t0010 a0001c0002t0015	a0001c0001t0002g0134 a0001c0001t0004g0058 a0001c0001t0008g0018 others(9): Show a0001c0001t0002g0134 a0001c0001t0004g0058 a0001c0001t0008g0018 a0001c0001t0009g0067 a0001c0001t0012g0028 a0001c0001t0020g0021 a0001c0001t0028g0041 a0001c0001t0037g0087 a0001c0001t0042g0136 a0001c0002t0003g0013 a0001c0002t0010g0096 a0001c0002t0015g0159	12	61	0.1967	26	c.283 others(43): Show c.283+1190_283+1215dupATATATATATATATATATATATATAT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233587	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG01891.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0047 a0001c0001t0008 a0001c0001t0047	a0001c0001t0008g0150 a0001c0001t0047g0175 a0001c0001t0008g0150 a0001c0001t0047g0175	2	170	0.0118	26	c.-42 others(43): Show c.-42-4587_-42-4586insATTTTTCTTTCTTTCTTTCTTTCTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233591	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0029 a0001c0001t0018 a0001c0001t0029	a0001c0001t0018g0082 a0001c0001t0029g0010 a0001c0001t0018g0082 a0001c0001t0029g0010	2	171	0.0117	26	c.-42 others(43): Show c.-42-4591_-42-4590insATTTTTCTTTCTTTCTTTCTTTCTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233595	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01106.hp2 others(5): Show HG00099.hp2 HG01070.hp1 HG01106.hp2 HG01243.hp1 HG03540.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0051 a0001c0002t0003	a0001c0001t0001g0031 a0001c0001t0004g0094 a0001c0001t0005g0108 others(5): Show a0001c0001t0001g0031 a0001c0001t0004g0094 a0001c0001t0005g0108 a0001c0001t0005g0146 a0001c0001t0011g0075 a0001c0001t0017g0084 a0001c0001t0051g0045 a0001c0002t0003g0128	8	134	0.0597	26	c.-42 others(43): Show c.-42-4595_-42-4594insATTTTTCTTTCTTTCTTTCTTTCTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24477007	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0088 a0001c0001t0048g0088	1	148	0.0068	26	c.-26 others(47): Show c.-261+17644_-261+17645insAAAAAAAAAAAAAAAAAAAAAAAA AA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	1/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24482538	C C	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	98	0.0102	26	c.-26 others(47): Show c.-261+12088_-261+12113dupAGAGAGAGAGAGAGAGAGAGAGAG AG	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	1/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71263331	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02895.hp2 HG01978.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0044 a0001c0001t0013 a0001c0004t0044	a0001c0001t0013g0097 a0001c0004t0044g0029 a0001c0001t0013g0097 a0001c0004t0044g0029	2	3	0.6667	26	c.101 others(45): Show c.1015+6632_1015+6633insTATATATATATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71263331	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0099 a0001c0008t0002g0099	1	2	0.5000	26	c.101 others(45): Show c.1015+6617_1015+6618insGTATATATATATATATATATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71299974	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0084 a0001c0002t0016g0084	1	101	0.0099	26	c.101 others(47): Show c.1015+43260_1015+43261insTATATATATATATATATATATATA TA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326696	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0094 a0001c0001t0011g0094	1	92	0.0109	26	c.101 others(47): Show c.1015+69982_1015+69983insTATATATATATATATATATATATA TA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	22	0.0455	26	c.101 others(47): Show c.1015+69986_1015+69987insAATATATATATATATATATATATA TA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar

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