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
TEX19_chr17_82354247_82368775	82354510	C C	CCCCAGGA others(15): Show CCCCAGGAGGGTTCAGGACAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01256.hp1 HG01257.hp1 others(15): Show HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01884.hp1 HG01952.hp2 HG02055.hp2 HG02109.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03486.hp1 HG03486.hp2 HG04199.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010	a0001c0001t0002g0038 a0001c0001t0004g0006 a0001c0001t0004g0011 others(11): Show a0001c0001t0002g0038 a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0004g0040 a0001c0002t0010g0036	18	378	0.0476	22	c.-50 others(33): Show c.-5047_-5046insCCCAGGAGGGTTCAGGACAGAG	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding		4736		chr17	TogoVar
TEX26_chr13_30927656_30980500	30974131	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02280.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0253 a0001c0001t0001g0227 a0001c0001t0001g0253	2	139	0.0144	22	c.809 others(37): Show c.809-714_809-713insAATATATATATATATATATATA	TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX26_chr13_30927656_30980500	30978255	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	92	0.0109	22	c.33 others(33): Show c.3348_*3349insAAAAAAAAAAAAAAAAAAAAAA	TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding		2756		chr13	TogoVar
TEX2_chr17_64142227_64268260	64231300	C C	CACTGATG others(15): Show CACTGATGTTTGTACACCACTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02895.hp2 others(11): Show HG02559.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0003t0004 a0002c0005t0001 a0002c0003t0001 a0002c0003t0004 a0002c0005t0001	a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0206 others(11): Show a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0210 a0002c0003t0004g0208 a0002c0003t0004g0214 a0002c0003t0004g0216 a0002c0005t0001g0204 a0002c0005t0001g0209 a0002c0005t0001g0211 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0005t0001g0215	14	222	0.0631	22	c.-25 others(41): Show c.-25-17059_-25-17058insTCAGTGGTGTACAAACATCAGT	TEX2	ENSG00000136478.9	transcript	ENST00000584379.6	protein_coding	1/11			chr17	TogoVar
TEX37_chr2_88519649_88534585	88522034	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	209	0.0048	22	c.-27 others(33): Show c.-2759_-2758insAAAAAAAAAAAAAAAAAAACAG	TEX37	ENSG00000172073.4	transcript	ENST00000303254.4	protein_coding		2614		chr2	TogoVar
TEX43_chr5_126626705_126641284	126633008	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp1 NA19043.hp2 HG02451.hp1 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	3	262	0.0115	22	c.195 others(37): Show c.195+358_195+379dupTATATATATATATATATATATA	TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
TEX43_chr5_126626705_126641284	126633024	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp2 HG01081.hp1 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0057 a0001c0002t0001g0062	2	393	0.0051	22	c.195 others(37): Show c.195+379_195+380insTATATATATATAAATATATATA	TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
TEX43_chr5_126626705_126641284	126635171	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18967.hp2 NA18991.hp2 others(3): Show HG04199.hp1 NA18967.hp2 NA18991.hp2 NA19011.hp2 NA19055.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0120	6	171	0.0351	22	c.196 others(37): Show c.196-856_196-835dupATATATATATATATATATATAT	TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
TEX43_chr5_126626705_126641284	126638583	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	125	0.0080	22	c.23 others(33): Show c.2342_*2343insTTTTTTTTTTTTTTTTTTTTTT	TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding		2300		chr5	TogoVar
TEX45_chr19_7492548_7513450	7499942	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02965.hp2 others(1): Show HG02257.hp2 HG02280.hp2 HG02965.hp2 HG03239.hp1	a0003 a0015 a0003 a0015	a0003c0004 a0015c0016 a0003c0004 a0015c0016	a0003c0004t0001 a0015c0016t0002 a0003c0004t0001 a0015c0016t0002	a0003c0004t0001g0112 a0003c0004t0001g0113 a0003c0004t0001g0115 others(1): Show a0003c0004t0001g0112 a0003c0004t0001g0113 a0003c0004t0001g0115 a0015c0016t0002g0157	4	433	0.0092	22	c.-17 others(37): Show c.-17-843_-17-842insATGTGTGTGTGTGTGTGTGTGT	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX45_chr19_7492548_7513450	7499944	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(64): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG01981.hp1 HG02293.hp2 HG02698.hp1 HG02735.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 NA18522.hp1 NA18906.hp2 NA18945.hp1 NA18951.hp2 NA18955.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19087.hp1 NA19091.hp1 NA20805.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0011 a0013	a0001c0001 a0002c0003 a0009c0014 others(2): Show a0001c0001 a0002c0003 a0009c0014 a0011c0012 a0013c0018	a0001c0001t0002 a0002c0003t0002 a0009c0014t0002 others(2): Show a0001c0001t0002 a0002c0003t0002 a0009c0014t0002 a0011c0012t0002 a0013c0018t0002	a0001c0001t0002g0152 a0002c0003t0002g0002 a0002c0003t0002g0004 others(28): Show a0001c0001t0002g0152 a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0040 a0002c0003t0002g0047 a0002c0003t0002g0051 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0150 a0002c0003t0002g0151 a0002c0003t0002g0153 a0002c0003t0002g0154 a0002c0003t0002g0155 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0002g0161 a0002c0003t0002g0170 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0187 a0009c0014t0002g0160 a0009c0014t0002g0171 a0011c0012t0002g0002 a0013c0018t0002g0174	67	378	0.1772	22	c.-17 others(37): Show c.-17-841_-17-840insATGTGTGTGTGTGTGTGTGTGT	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TFAP2A_chr6_10391677_10420074	10406264	A A	AAATAGTT others(15): Show AAATAGTTAATTACTCCATCTTC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	366	0.0027	22	c.538 others(37): Show c.538+528_538+529insGAAGATGGAGTAATTAACTATT	TFAP2A	ENSG00000137203.15	transcript	ENST00000379613.10	protein_coding	3/6			chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50742954	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	60	0.0167	22	c.884 others(39): Show c.884-2133_884-2112dupCACACACACACACACACACACA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50766654	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01516.hp2 others(7): Show HG00408.hp1 HG00673.hp2 HG01516.hp2 HG03491.hp1 NA18955.hp2 NA18971.hp2 NA19030.hp2 NA19060.hp2 NA19090.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0004 a0001c0001t0002 a0001c0001t0004 a0002c0002t0004	a0001c0001t0002g0016 a0001c0001t0002g0129 a0001c0001t0002g0130 others(7): Show a0001c0001t0002g0016 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0233 a0001c0001t0002g0244 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0310 a0001c0001t0004g0016 a0002c0002t0004g0279	10	46	0.2174	22	c.114 others(41): Show c.1140-5987_1140-5966dupTTTTTTTTTTTTTTTTTTTTTT	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFB1M_chr6_155251134_155319484	155287551	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0039 a0002c0005t0039	a0002c0005t0039g0305 a0002c0005t0039g0305	1	56	0.0179	22	c.547 others(39): Show c.547-2296_547-2275dupACACACACACACACACACACAC	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	4/6			chr6	TogoVar
TFCP2L1_chr2_121211587_121290202	121287677	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02895.hp1 HG02896.hp2 others(4): Show HG01943.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 NA18985.hp2 NA19054.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0056 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0056 a0001c0002t0003 a0001c0002t0022	a0001c0001t0001g0147 a0001c0001t0007g0181 a0001c0001t0056g0052 others(4): Show a0001c0001t0001g0147 a0001c0001t0007g0181 a0001c0001t0056g0052 a0001c0002t0003g0123 a0001c0002t0003g0178 a0001c0002t0003g0187 a0001c0002t0022g0184	7	146	0.0479	22	c.-25 others(33): Show c.-2569_-2568insAAAAAAAAAAAAAAAAAAAAAA	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding		2476		chr2	TogoVar
TFDP2_chr3_141939428_142154544	141973123	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0238 a0001c0001t0052g0238	1	189	0.0053	22	c.663 others(37): Show c.663+924_663+925insAAAAAAAAAATATATATATATA	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	8/12			chr3	TogoVar
TFEB_chr6_41678978_41740608	41697408	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 NA18522.hp2 HG02615.hp1 HG02886.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0012g0355 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0012g0355	3	83	0.0361	22	c.-22 others(39): Show c.-22-6174_-22-6173insTTTTTTTTTTTTTTTTTTTTTT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding	1/8			chr6	TogoVar
TFEB_chr6_41678978_41740608	41738205	T T	TATATATA others(15): Show TATATATATACATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02647.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0115 a0001c0001t0001g0116	2	215	0.0093	22	c.-28 others(33): Show c.-2879_-2878insGTATATATATATGTATATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2598		chr6	TogoVar
TFEC_chr7_115930152_116035763	115944013	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01243.hp1 others(13): Show HG00140.hp2 HG00673.hp2 HG01243.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02258.hp1 HG03225.hp2 HG03834.hp2 HG03927.hp1 NA18942.hp1 NA18943.hp2 NA18995.hp1 NA19009.hp2 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018	a0001c0001t0001g0086 a0001c0001t0001g0233 a0001c0001t0001g0328 others(12): Show a0001c0001t0001g0086 a0001c0001t0001g0233 a0001c0001t0001g0328 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0029 a0001c0001t0002g0143 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0229 a0001c0001t0008g0232 a0001c0001t0009g0141 a0001c0001t0018g0139	16	91	0.1758	22	c.516 others(39): Show c.516-1995_516-1974dupAAAAAAAAAAAAAAAAAAAAAA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFEC_chr7_115930152_116035763	115953162	G G	GTGCAGAA others(15): Show GTGCAGAAAGAACAGTGGGGGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00733.hp2 others(10): Show HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01106.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp2 HG02257.hp2 HG03239.hp1 HG06807.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0004 a0001c0001t0031	a0001c0001t0004g0002 a0001c0001t0004g0056 a0001c0001t0004g0161 others(5): Show a0001c0001t0004g0002 a0001c0001t0004g0056 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0263 a0001c0001t0031g0158	13	392	0.0332	22	c.439 others(39): Show c.439+1402_439+1423dupGCCCCCCACTGTTCTTTCTGCA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	5/7			chr7	TogoVar
TFF3_chr21_42306667_42320409	42317329	G G	GGGGGATC others(15): Show GGGGGATCTGGTGAGATCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18980.hp2 NA18963.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	450	0.0044	22	c.-19 others(33): Show c.-1956_-1955insAGGGAGATCTCACCAGATCCCC	TFF3	ENSG00000160180.17	transcript	ENST00000518498.3	protein_coding		1921		chr21	TogoVar
TFPT_chr19_54102020_54120657	54105264	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	87	0.0115	22	c.17 others(33): Show c.1785_*1786insAAAAAAAAAAAAAAAAAAAAAA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding		1755		chr19	TogoVar
TFR2_chr7_100615420_100646552	100634177	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18960.hp2 HG02040.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	59	0.0339	22	c.474 others(37): Show c.474-643_474-622dupGTGTGTGTGTGTGTGTGTGTGT	TFR2	ENSG00000106327.13	transcript	ENST00000223051.8	protein_coding	3/17			chr7	TogoVar
TGFA_chr2_70442284_70558826	70504433	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	187	0.0053	22	c.94+ others(39): Show c.94+10404_94+10425dupATATATATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504469	C C	CATACATA others(15): Show CATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	239	0.0042	22	c.94+ others(39): Show c.94+10389_94+10390insATATATATATATATATATGTAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504469	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0314 a0001c0002t0009g0314	1	239	0.0042	22	c.94+ others(39): Show c.94+10389_94+10390insATATATATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504473	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0325 a0001c0002t0003g0325	1	299	0.0033	22	c.94+ others(39): Show c.94+10385_94+10386insATATATATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFB3_chr14_75953097_75986995	75970650	C C	CTCCCCTC others(15): Show CTCCCCTCCTCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02922.hp2 others(3): Show HG02109.hp1 HG02572.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0136 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138	6	179	0.0335	22	c.646 others(37): Show c.646+475_646+476insAGAGGAGGGGAAGAGGAGGGGA	TGFB3	ENSG00000119699.8	transcript	ENST00000238682.8	protein_coding	3/6			chr14	TogoVar
TGFBI_chr5_136023988_136068818	136066909	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG03927.hp1 NA18957.hp2 others(1): Show HG01516.hp2 HG03927.hp1 NA18957.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0044 a0001c0002t0001g0001 a0001c0002t0001g0044	4	46	0.0870	22	c.36 others(33): Show c.3683_*3684insACACACACACACACACACACAC	TGFBI	ENSG00000120708.17	transcript	ENST00000442011.7	protein_coding		3092		chr5	TogoVar
TGFBR2_chr3_30601601_30699142	30648460	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02738.hp1 HG03927.hp2 others(4): Show HG00544.hp1 HG02738.hp1 HG03927.hp2 HG03942.hp2 NA18951.hp1 NA18983.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0010	a0001c0001t0001g0121 a0001c0001t0001g0218 a0001c0001t0001g0334 others(4): Show a0001c0001t0001g0121 a0001c0001t0001g0218 a0001c0001t0001g0334 a0001c0001t0003g0060 a0001c0002t0001g0063 a0001c0002t0001g0172 a0001c0002t0010g0382	7	273	0.0256	22	c.264 others(39): Show c.264-1808_264-1807insCACACACACACACACACACCCA	TGFBR2	ENSG00000163513.19	transcript	ENST00000295754.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
TGFBR3_chr1_91675343_91891151	91782408	T T	TGCCCAAC others(15): Show TGCCCAACACGGAATCATGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0021 a0001c0017t0005g0021	1	282	0.0035	22	c.246 others(41): Show c.246+14857_246+14878dupCACACATGATTCCGTGTTGGGC	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	3/16			chr1	TogoVar
TGM2_chr20_38122385_38170270	38153528	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	143	0.0070	22	c.433 others(39): Show c.433+2318_433+2319insCTTTTCTTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	3/12			chr20	TogoVar
TGM3_chr20_2291001_2346079	2317940	T T	TCATATAT others(15): Show TCATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0002 a0011c0027t0002	a0011c0027t0002g0271 a0011c0027t0002g0271	1	338	0.0030	22	c.983 others(37): Show c.983+455_983+456insCATATATATATATATATATATG	TGM3	ENSG00000125780.12	transcript	ENST00000381458.6	protein_coding	7/12			chr20	TogoVar
TGM7_chr15_43271271_43307255	43274802	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03579.hp1 HG02976.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0221 a0001c0001t0001g0017 a0001c0001t0001g0221	2	253	0.0079	22	c.16 others(33): Show c.1652_*1653insTTTTTTTTTTTTTTTTTTTTTT	TGM7	ENSG00000159495.8	transcript	ENST00000452443.3	protein_coding		1468		chr15	TogoVar
TGM7_chr15_43271271_43307255	43297635	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	232	0.0043	22	c.11- others(37): Show c.11-4005_11-4004insCTTTCTTTCTTTCTTTCTTTCT	TGM7	ENSG00000159495.8	transcript	ENST00000452443.3	protein_coding	1/12			chr15	TogoVar
TGS1_chr8_55768446_55831445	55769018	T T	TTAAAAAA others(15): Show TTAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18959.hp1 NA18986.hp2 NA18951.hp2 NA18959.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0068 a0001c0001t0002g0081 a0001c0001t0002g0084	3	145	0.0207	22	c.-46 others(33): Show c.-4601_-4600insTAAAAAAAAAAAAAAAAAAAAA	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding		4427		chr8	TogoVar
TGS1_chr8_55768446_55831445	55801582	C C	CCTTTTTT others(15): Show CCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0303 a0003c0003t0005g0303	1	112	0.0089	22	c.185 others(39): Show c.1850-875_1850-874insCTTTTTTTTTTTTTTTTTTTTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	8/12			chr8	TogoVar
TG_chr8_132861958_133139899	132925516	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0068 a0068	a0068c0050 a0068c0050	a0068c0050t0001 a0068c0050t0001	a0068c0050t0001g0078 a0068c0050t0001g0078	1	53	0.0189	22	c.469 others(41): Show c.4699+2023_4699+2044dupGTGTGTGTGTGTGTGTGTGTGT	TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	22/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
TG_chr8_132861958_133139899	132957764	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0105 a0105	a0105c0082 a0105c0082	a0105c0082t0001 a0105c0082t0001	a0105c0082t0001g0173 a0105c0082t0001g0173	1	213	0.0047	22	c.540 others(41): Show c.5402-3224_5402-3223insAGACACACACACACACACACAC	TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	27/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
TG_chr8_132861958_133139899	132957766	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01243.hp1 others(27): Show HG00544.hp1 HG00639.hp2 HG01243.hp1 HG01884.hp1 HG01943.hp2 HG02004.hp1 HG02015.hp1 HG02074.hp2 HG02129.hp2 HG02155.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG03130.hp1 HG03453.hp2 HG03704.hp2 HG03710.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18964.hp2 NA18991.hp2 NA19001.hp2 NA19062.hp2 NA19065.hp1 NA19079.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0008 a0009 a0016 a0018 a0019 a0023 a0026 a0027 a0034 a0046 a0054 a0100 a0111 a0112 a0118 a0122 a0123	a0001c0002 a0002c0005 a0003c0001 others(18): Show a0001c0002 a0002c0005 a0003c0001 a0008c0018 a0008c0058 a0009c0007 a0016c0011 a0018c0048 a0019c0016 a0023c0046 a0026c0021 a0027c0020 a0034c0019 a0046c0041 a0054c0070 a0100c0032 a0111c0069 a0112c0044 a0118c0074 a0122c0045 a0123c0063	a0001c0002t0001 a0002c0005t0001 a0003c0001t0001 others(18): Show a0001c0002t0001 a0002c0005t0001 a0003c0001t0001 a0008c0018t0001 a0008c0058t0001 a0009c0007t0001 a0016c0011t0001 a0018c0048t0001 a0019c0016t0001 a0023c0046t0001 a0026c0021t0001 a0027c0020t0001 a0034c0019t0001 a0046c0041t0001 a0054c0070t0001 a0100c0032t0001 a0111c0069t0001 a0112c0044t0001 a0118c0074t0001 a0122c0045t0001 a0123c0063t0001	a0001c0002t0001g0060 a0002c0005t0001g0024 a0003c0001t0001g0010 others(27): Show a0001c0002t0001g0060 a0002c0005t0001g0024 a0003c0001t0001g0010 a0003c0001t0001g0091 a0003c0001t0001g0098 a0003c0001t0001g0170 a0003c0001t0001g0189 a0008c0018t0001g0137 a0008c0018t0001g0149 a0008c0058t0001g0204 a0009c0007t0001g0014 a0009c0007t0001g0087 a0009c0007t0001g0097 a0016c0011t0001g0093 a0018c0048t0001g0146 a0019c0016t0001g0213 a0019c0016t0001g0216 a0023c0046t0001g0134 a0026c0021t0001g0099 a0027c0020t0001g0084 a0027c0020t0001g0086 a0034c0019t0001g0085 a0046c0041t0001g0111 a0054c0070t0001g0105 a0100c0032t0001g0159 a0111c0069t0001g0103 a0112c0044t0001g0101 a0118c0074t0001g0079 a0122c0045t0001g0081 a0123c0063t0001g0104	30	71	0.4225	22	c.540 others(41): Show c.5402-3224_5402-3223insACAGACACACACACACACACAC	TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	27/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
THADA_chr2_43225851_43601038	43229819	A A	AGAGAGTG others(15): Show AGAGAGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0194 a0003c0002t0001g0194	1	113	0.0088	22	c.11 others(33): Show c.1128_*1129insACACACACACACACACACTCTC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding		1031		chr2	TogoVar
THADA_chr2_43225851_43601038	43229819	A A	AGAGTGTG others(15): Show AGAGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG04184.hp2 HG04228.hp1 HG03490.hp2 HG04184.hp2 HG04228.hp1	a0006 a0021 a0006 a0021	a0006c0005 a0021c0019 a0006c0005 a0021c0019	a0006c0005t0001 a0021c0019t0001 a0006c0005t0001 a0021c0019t0001	a0006c0005t0001g0020 a0006c0005t0001g0167 a0021c0019t0001g0029 a0006c0005t0001g0020 a0006c0005t0001g0167 a0021c0019t0001g0029	3	115	0.0261	22	c.11 others(33): Show c.1128_*1129insACACACACACACACACACACTC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding		1031		chr2	TogoVar
THADA_chr2_43225851_43601038	43229819	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG02647.hp2 others(2): Show HG01106.hp1 HG01192.hp2 HG02647.hp2 HG02723.hp1 NA19043.hp1	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0009 a0007c0014 a0008c0011 a0002c0009 a0007c0014 a0008c0011	a0002c0009t0001 a0007c0014t0002 a0008c0011t0001 a0002c0009t0001 a0007c0014t0002 a0008c0011t0001	a0002c0009t0001g0024 a0007c0014t0002g0007 a0007c0014t0002g0008 others(2): Show a0002c0009t0001g0024 a0007c0014t0002g0007 a0007c0014t0002g0008 a0007c0014t0002g0009 a0008c0011t0001g0147	5	117	0.0427	22	c.11 others(33): Show c.1128_*1129insACACACACACACACACACACAC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding		1031		chr2	TogoVar
THADA_chr2_43225851_43601038	43248164	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0073 a0003c0016t0001g0073	1	134	0.0075	22	c.529 others(43): Show c.5297-15283_5297-15282insCTCTCTCTCTATATATATATAT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	36/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43331918	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG02145.hp1 others(4): Show HG00738.hp2 HG01081.hp2 HG02145.hp1 HG02922.hp1 HG02922.hp2 HG03579.hp2 NA19088.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0007 a0010 a0016	a0001c0001 a0004c0010 a0006c0005 others(3): Show a0001c0001 a0004c0010 a0006c0005 a0007c0007 a0010c0013 a0016c0023	a0001c0001t0001 a0004c0010t0001 a0006c0005t0001 others(3): Show a0001c0001t0001 a0004c0010t0001 a0006c0005t0001 a0007c0007t0002 a0010c0013t0001 a0016c0023t0001	a0001c0001t0001g0110 a0004c0010t0001g0088 a0006c0005t0001g0027 others(4): Show a0001c0001t0001g0110 a0004c0010t0001g0088 a0006c0005t0001g0027 a0007c0007t0002g0011 a0010c0013t0001g0022 a0010c0013t0001g0032 a0016c0023t0001g0162	7	119	0.0588	22	c.434 others(43): Show c.4344-11400_4344-11379dupGTGTGTGTGTGTGTGTGTGTGT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	30/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43400457	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp1 HG02145.hp2 others(3): Show HG00140.hp1 HG01978.hp1 HG02145.hp2 HG02922.hp1 HG03669.hp2 NA18981.hp1	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0003 a0006c0015 a0010c0013 a0002c0003 a0006c0015 a0010c0013	a0002c0003t0001 a0006c0015t0001 a0010c0013t0001 a0002c0003t0001 a0006c0015t0001 a0010c0013t0001	a0002c0003t0001g0126 a0002c0003t0001g0132 a0002c0003t0001g0137 others(3): Show a0002c0003t0001g0126 a0002c0003t0001g0132 a0002c0003t0001g0137 a0002c0003t0001g0140 a0006c0015t0001g0067 a0010c0013t0001g0032	6	120	0.0500	22	c.405 others(41): Show c.4059-2319_4059-2318insTATATATATATATATATATATA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43400472	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02818.hp2 HG00738.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0110 a0001c0001t0001g0117	2	203	0.0099	22	c.405 others(41): Show c.4059-2334_4059-2333insTTATATATATATATATATATAT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43427503	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0097 a0002c0003t0001g0097	1	4	0.2500	22	c.405 others(39): Show c.4058+575_4058+596dupCACACACACACACACACACACA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43489874	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04204.hp2 HG04228.hp1 others(1): Show HG03669.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp2	a0006 a0006	a0006c0005 a0006c0015 a0006c0005 a0006c0015	a0006c0005t0001 a0006c0015t0001 a0006c0005t0001 a0006c0015t0001	a0006c0005t0001g0019 a0006c0005t0001g0020 a0006c0015t0001g0067 others(1): Show a0006c0005t0001g0019 a0006c0005t0001g0020 a0006c0015t0001g0067 a0006c0015t0001g0068	4	123	0.0325	22	c.374 others(41): Show c.3745-4550_3745-4549insTTTTTTTTTTTTTTTTTTTTTT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	25/37			chr2	TogoVar

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