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
TEX11_chrX_70523940_70913711	70782645	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp2 HG01891.hp1 others(4): Show HG00738.hp1 HG01884.hp2 HG01891.hp1 HG02809.hp1 HG02896.hp2 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0103 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0050	7	18	0.3889	16	c.692 others(35): Show c.692+24044_692+24059dupTTTTTTTTTTTTTTTT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	9/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70788936	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	158	0.0063	16	c.692 others(35): Show c.692+17753_692+17768dupTATATATATATATATA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	9/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70788973	T T	TATATATA others(9): Show TATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	131	0.0076	16	c.692 others(35): Show c.692+17731_692+17732insCTCTATATATATATAT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	9/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70851666	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	8	0.1250	16	c.525 others(33): Show c.525+1352_525+1367dupGTGTGTGTGTGTGTGT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	7/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70897608	A A	AAAGGGAG others(9): Show AAAGGGAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02071.hp1 HG02083.hp1 others(13): Show HG01433.hp1 HG02071.hp1 HG02083.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03098.hp1 HG04199.hp1 HG04228.hp1 NA18951.hp2 NA18961.hp1 NA18990.hp1 NA18993.hp1 NA19055.hp1 NA19070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0119 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0188	16	117	0.1368	16	c.37+ others(33): Show c.37+10144_37+10145insCCTTCCTTCCTCCCTT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	2/29			chrX	TogoVar
TEX11_chrX_70523940_70913711	70909153	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02155.hp1 others(11): Show HG01243.hp1 HG01255.hp1 HG02155.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02976.hp1 HG03098.hp1 HG03486.hp1 HG03516.hp2 NA18747.hp1 NA18944.hp1 NA19006.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0007t0001	a0001c0001t0001g0001 a0002c0002t0001g0095 a0002c0002t0001g0098 others(11): Show a0001c0001t0001g0001 a0002c0002t0001g0095 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0105 a0002c0002t0001g0229 a0003c0003t0001g0068 a0003c0003t0001g0076 a0003c0003t0001g0079 a0003c0003t0001g0084 a0003c0003t0001g0092 a0003c0003t0001g0107 a0005c0007t0001g0074 a0005c0007t0001g0090	14	29	0.4828	16	c.-52 others(25): Show c.-522_-521insTTTTTTTTTTTTTTTT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding		443		chrX	TogoVar
TEX14_chr17_58551678_58697045	58603887	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02451.hp1 HG01175.hp2 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0166 a0001c0002t0001g0150 a0001c0002t0001g0166	2	33	0.0606	16	c.133 others(35): Show c.1336+1075_1336+1090dupCACACACACACACACA	TEX14	ENSG00000121101.16	transcript	ENST00000349033.10	protein_coding	11/31			chr17	TogoVar
TEX15_chr8_30826544_30918008	30889927	T T	TTATATAC others(9): Show TTATATACATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0221 a0005c0005t0001g0221	1	289	0.0035	16	c.-9- others(31): Show c.-9-2632_-9-2617dupTATATATATGTATATA	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	2/10			chr8	TogoVar
TEX15_chr8_30826544_30918008	30895676	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp1 HG02922.hp1 HG03516.hp1	a0003 a0014 a0003 a0014	a0003c0003 a0014c0018 a0003c0003 a0014c0018	a0003c0003t0001 a0014c0018t0001 a0003c0003t0001 a0014c0018t0001	a0003c0003t0001g0173 a0014c0018t0001g0194 a0003c0003t0001g0173 a0014c0018t0001g0194	2	83	0.0241	16	c.-10 others(33): Show c.-10+3050_-10+3065dupAAAAAAAAAAAAAAAA	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	2/10			chr8	TogoVar
TEX261_chr2_70980942_70999873	70996792	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA20129.hp2 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	2	4	0.5000	16	c.-20 others(27): Show c.-2036_-2035insTTTTTTTTTTTTTTTT	TEX261	ENSG00000144043.13	transcript	ENST00000272438.9	protein_coding		1920		chr2	TogoVar
TEX264_chr3_51666252_51709323	51694081	G G	GTCCTTCC others(9): Show GTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02886.hp1 HG00140.hp2 HG02886.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0116 a0003c0003t0001g0049 a0001c0001t0001g0116 a0003c0003t0001g0049	2	290	0.0069	16	c.481 others(33): Show c.481-5322_481-5321insTTCCTTCCTTCCTTCC	TEX264	ENSG00000164081.13	transcript	ENST00000341333.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TEX264_chr3_51666252_51709323	51694085	G G	GTCCGTCC others(9): Show GTCCGTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	109	0.0092	16	c.481 others(33): Show c.481-5318_481-5317insGTCCTTCCTTCCTTCC	TEX264	ENSG00000164081.13	transcript	ENST00000341333.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TEX264_chr3_51666252_51709323	51694085	G G	GTCCTTCC others(9): Show GTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp1 HG01981.hp1 others(2): Show HG00280.hp1 HG01496.hp1 HG01981.hp1 HG02698.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0138	5	113	0.0442	16	c.481 others(33): Show c.481-5278_481-5263dupCTTCCTTCCTTCCTTC	TEX264	ENSG00000164081.13	transcript	ENST00000341333.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TEX264_chr3_51666252_51709323	51703495	A A	ACCCTCTC others(9): Show ACCCTCTCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp1 HG02145.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	298	0.0067	16	c.650 others(31): Show c.650-223_650-208dupTCTCCCTCCCTCCCTC	TEX264	ENSG00000164081.13	transcript	ENST00000341333.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TEX26_chr13_30927656_30980500	30974131	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	138	0.0072	16	c.809 others(31): Show c.809-714_809-713insAAAATATATATATATA	TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX28_chrX_154266265_154300124	154285031	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	6	0.1667	16	c.740 others(33): Show c.740+2633_740+2648dupAAAAAAAAAAAAAAAA	TEX28	ENSG00000278057.4	transcript	ENST00000617225.5	protein_coding	3/4			chrX	TogoVar
TEX2_chr17_64142227_64268260	64210634	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04199.hp1 HG00544.hp2 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0070 a0001c0004t0002g0071 a0001c0004t0002g0070 a0001c0004t0002g0071	2	51	0.0392	16	c.164 others(35): Show c.1644+1924_1644+1939dupAAAAAAAAAAAAAAAA	TEX2	ENSG00000136478.9	transcript	ENST00000584379.6	protein_coding	2/11			chr17	TogoVar
TEX2_chr17_64142227_64268260	64239904	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	191	0.0052	16	c.-26 others(35): Show c.-26+23263_-26+23264insCTTTTTTTTTTTTTTT	TEX2	ENSG00000136478.9	transcript	ENST00000584379.6	protein_coding	1/11			chr17	TogoVar
TEX30_chr13_102760888_102778786	102765707	C C	CTCCTGGC others(9): Show CTCCTGGCCTCAAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	450	0.0022	16	c.69 others(25): Show c.693_*694insTCACTTGAGGCCAGGA	TEX30	ENSG00000151287.17	transcript	ENST00000376032.9	protein_coding		180		chr13	TogoVar
TEX37_chr2_88519649_88534585	88522034	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG02818.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0004 a0001c0001t0001g0050	2	210	0.0095	16	c.-27 others(27): Show c.-2759_-2758insAAAAAAAAAAAAACAG	TEX37	ENSG00000172073.4	transcript	ENST00000303254.4	protein_coding		2614		chr2	TogoVar
TEX43_chr5_126626705_126641284	126633008	C C	CATATATA others(9): Show CATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	260	0.0038	16	c.195 others(31): Show c.195+363_195+364insAATATATATATATATA	TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
TEX43_chr5_126626705_126641284	126633008	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02280.hp2 HG02572.hp1 others(6): Show HG00642.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02896.hp2 HG02970.hp1 HG03540.hp2 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0090 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0002t0001g0050 a0001c0002t0001g0102 a0001c0002t0001g0131	9	268	0.0336	16	c.195 others(31): Show c.195+364_195+379dupTATATATATATATATA	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(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18612.hp1 NA18943.hp1 HG03098.hp1 NA18612.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0110	3	168	0.0179	16	c.196 others(31): Show c.196-850_196-835dupATATATATATATATAT	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(9): Show ATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01496.hp2 HG03710.hp1 HG01106.hp1 HG01496.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0022 a0001c0001t0001g0046	3	127	0.0236	16	c.23 others(27): Show c.2342_*2343insTTTTTTTTTTTTTTTT	TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding		2300		chr5	TogoVar
TEX45_chr19_7492548_7513450	7499932	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01517.hp1 HG01952.hp2 others(1): Show HG00621.hp1 HG01517.hp1 HG01952.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0147 a0001c0002t0001g0074 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0147 a0001c0002t0001g0074 a0001c0002t0001g0093	4	249	0.0161	16	c.-17 others(31): Show c.-17-855_-17-840dupTGTGTGTGTGTGTGTG	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(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0111 a0003c0004t0001g0111	1	312	0.0032	16	c.-17 others(31): Show c.-17-847_-17-846insATGTGTGTGTGTGTGT	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX45_chr19_7492548_7513450	7499946	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG03453.hp1 others(1): Show HG02717.hp2 HG02965.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0080 a0001c0002t0001g0018 a0001c0002t0001g0080	4	430	0.0093	16	c.-17 others(31): Show c.-17-845_-17-844insATGTGTGTGTGTGTGT	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX45_chr19_7492548_7513450	7504080	A A	ATCTCTCT others(9): Show ATCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG03471.hp1 HG02258.hp2 HG03225.hp2 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0108 a0005c0006t0001g0109 a0005c0006t0001g0110 a0005c0006t0001g0108 a0005c0006t0001g0109 a0005c0006t0001g0110	3	191	0.0157	16	c.578 others(29): Show c.578-27_578-26insTCTCTCTCTCTCTCTC	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX45_chr19_7492548_7513450	7506249	T T	TCCCCATG others(9): Show TCCCCATGGAGCCCCGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02451.hp1 others(17): Show HG01891.hp2 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp1 NA21309.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0010 a0004c0005 a0008c0010	a0004c0005t0001 a0004c0005t0002 a0008c0010t0001 a0004c0005t0001 a0004c0005t0002 a0008c0010t0001	a0004c0005t0001g0011 a0004c0005t0001g0033 a0004c0005t0001g0055 others(10): Show a0004c0005t0001g0011 a0004c0005t0001g0033 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0061 a0004c0005t0002g0168 a0008c0010t0001g0010 a0008c0010t0001g0016 a0008c0010t0001g0060 a0008c0010t0001g0075	20	413	0.0484	16	c.120 others(32): Show c.1207+90_1207+105dupTGGAGCCCCGCCCCCA	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX45_chr19_7492548_7513450	7511870	A A	AACACACA others(9): Show AACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0002 a0013c0018t0002	a0013c0018t0002g0174 a0013c0018t0002g0174	1	166	0.0060	16	c.34 others(27): Show c.3440_*3441insACACACACACACACAC	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding		3421		chr19	TogoVar
TEX48_chr9_114661434_114687192	114680120	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	379	0.0026	16	c.-10 others(35): Show c.-105+1914_-105+1915insAAAAAAAAAAAAAAAA	TEX48	ENSG00000230601.7	transcript	ENST00000436752.3	protein_coding	1/4			chr9	TogoVar
TEX54_chr11_62827321_62837841	62829427	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA18973.hp1 HG03516.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	186	0.0108	16	c.29 others(27): Show c.2933_*2948dupATTTATTTATTTATTT	TEX54	ENSG00000283268.2	transcript	ENST00000636508.2	protein_coding		2893		chr11	TogoVar
TEX9_chr15_56360426_56435154	56426626	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG02056.hp2 others(1): Show HG00099.hp1 HG01168.hp1 HG02056.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0173 a0001c0001t0001g0179 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0189	4	237	0.0169	16	c.964 others(31): Show c.964-978_964-977insTATATATATATACACA	TEX9	ENSG00000151575.15	transcript	ENST00000696102.1	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
TFAP2D_chr6_50708526_50778033	50719478	A A	AAAGAAAG others(9): Show AAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp2 HG02886.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	329	0.0061	16	c.598 others(31): Show c.598+343_598+344insGAAGAAAGAAAGAAAG	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50742954	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01192.hp1 others(10): Show HG00597.hp2 HG00621.hp2 HG01192.hp1 HG01192.hp2 HG01361.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp2 NA18990.hp1 NA19058.hp2 NA19072.hp1 NA19074.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0004 a0001c0001 a0001c0006 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0002 a0003c0004t0002	a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0225 others(10): Show a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0313 a0001c0001t0003g0221 a0001c0001t0004g0071 a0001c0006t0002g0056 a0003c0004t0002g0247	13	72	0.1806	16	c.884 others(33): Show c.884-2127_884-2112dupCACACACACACACACA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP4_chr16_4252186_4278023	4272954	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02040.hp1 HG03139.hp2 HG02040.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0107 a0001c0001t0006g0091 a0001c0001t0001g0107 a0001c0001t0006g0091	2	38	0.0526	16	c.-22 others(25): Show c.-224_-209dupCACACACACACACACA	TFAP4	ENSG00000090447.12	transcript	ENST00000204517.11	protein_coding	1/7	209		chr16	TogoVar
TFAP4_chr16_4252186_4278023	4275507	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02280.hp2 others(5): Show HG02055.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp2 HG03516.hp2 NA18943.hp2 NA18981.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0006 a0001c0005t0004 a0002c0002t0003	a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0141 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0141 a0001c0001t0004g0092 a0001c0003t0006g0142 a0001c0005t0004g0131 a0002c0002t0003g0083	8	148	0.0541	16	c.-27 others(27): Show c.-2762_-2761insAAAAAAAAAAAAAAAA	TFAP4	ENSG00000090447.12	transcript	ENST00000204517.11	protein_coding		2485		chr16	TogoVar
TFB1M_chr6_155251134_155319484	155287551	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00735.hp1 others(45): Show HG00558.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp2 HG01433.hp1 HG02683.hp1 HG02738.hp2 HG03130.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03834.hp2 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA19003.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0040 a0004c0006t0038	a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0026 others(39): Show a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0232 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0006g0227 a0001c0001t0014g0225 a0001c0001t0015g0060 a0001c0001t0016g0272 a0001c0001t0016g0302 a0001c0001t0040g0292 a0004c0006t0038g0231	48	103	0.4660	16	c.547 others(33): Show c.547-2290_547-2275dupACACACACACACACAC	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	4/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155293157	T T	TCATACAT others(9): Show TCATACATACATACATA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18977.hp1 NA19012.hp1 NA18973.hp1 NA18977.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0008g0083 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0008g0083	3	58	0.0517	16	c.546 others(33): Show c.546+3780_546+3795dupTATGTATGTATGTATG	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	4/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305431	A A	ATAAATAT others(9): Show ATAAATATATATTAAAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0035 a0001c0001t0021g0035	1	346	0.0029	16	c.285 others(33): Show c.285+5756_285+5757insATTTAATATATATTTA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305433	A A	ATATTAAA others(9): Show ATATTAAATTATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0014 a0001c0002t0006 a0001c0002t0014	a0001c0002t0006g0054 a0001c0002t0014g0053 a0001c0002t0006g0054 a0001c0002t0014g0053	2	346	0.0058	16	c.285 others(33): Show c.285+5754_285+5755insAATATATAATTTAATA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305456	T T	TATAAATA others(9): Show TATAAATATATATTAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02896.hp2 others(3): Show HG02622.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0004 a0001c0002t0023 a0003c0007t0032 a0001c0002t0004 a0001c0002t0023 a0003c0007t0032	a0001c0002t0004g0005 a0001c0002t0004g0046 a0001c0002t0023g0047 others(1): Show a0001c0002t0004g0005 a0001c0002t0004g0046 a0001c0002t0023g0047 a0003c0007t0032g0052	6	346	0.0173	16	c.285 others(33): Show c.285+5731_285+5732insTTTAATATATATTTAT	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305463	A A	ATAAATAT others(9): Show ATAAATATATATTAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02647.hp2 HG04204.hp1 HG00639.hp1 HG02647.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0021 a0001c0002t0004 a0001c0001t0013 a0001c0001t0021 a0001c0002t0004	a0001c0001t0013g0036 a0001c0001t0021g0037 a0001c0002t0004g0031 a0001c0001t0013g0036 a0001c0001t0021g0037 a0001c0002t0004g0031	3	315	0.0095	16	c.285 others(33): Show c.285+5724_285+5725insATTTAATATATATTTA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFCP2L1_chr2_121211587_121290202	121227720	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0182	1	111	0.0090	16	c.134 others(35): Show c.1342-2123_1342-2108dupGTGTGTGTGTGTGTGT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	13/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121269907	T T	TCAAAAAA others(9): Show TCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG02897.hp2 others(14): Show HG02257.hp2 HG02895.hp1 HG02897.hp2 HG03139.hp2 HG03579.hp2 NA18747.hp2 NA18939.hp1 NA18959.hp1 NA18964.hp2 NA18967.hp1 NA18986.hp2 NA18994.hp2 NA19002.hp2 NA19030.hp2 NA19056.hp1 NA19080.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0070 a0001c0002t0002 a0001c0002t0003 a0001c0003t0049 a0001c0003t0075	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0063 others(14): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0168 a0001c0001t0001g0199 a0001c0001t0004g0265 a0001c0001t0004g0302 a0001c0001t0013g0076 a0001c0001t0070g0259 a0001c0002t0002g0246 a0001c0002t0002g0256 a0001c0002t0002g0354 a0001c0002t0003g0121 a0001c0002t0003g0123 a0001c0002t0003g0178 a0001c0003t0049g0183 a0001c0003t0075g0351	17	211	0.0806	16	c.214 others(35): Show c.214+11212_214+11213insTTTTTTTTTTTTTTTG	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121269918	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 HG02976.hp1 others(1): Show HG02622.hp1 HG02922.hp1 HG02976.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0004g0225 others(1): Show a0001c0001t0001g0100 a0001c0001t0001g0132 a0001c0001t0004g0225 a0001c0001t0004g0226	4	122	0.0328	16	c.214 others(35): Show c.214+11201_214+11202insATATTTTTTTTTTTTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121269918	A A	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0017 a0001c0001t0034g0017	1	119	0.0084	16	c.214 others(35): Show c.214+11201_214+11202insATATATTTTTTTTTTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121275398	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG03579.hp1 HG02145.hp1 HG02896.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0068 a0001c0002t0003 a0001c0004t0067 a0001c0001t0068 a0001c0002t0003 a0001c0004t0067	a0001c0001t0068g0343 a0001c0002t0003g0028 a0001c0004t0067g0371 a0001c0001t0068g0343 a0001c0002t0003g0028 a0001c0004t0067g0371	3	131	0.0229	16	c.214 others(33): Show c.214+5706_214+5721dupTTTTTTTTTTTTTTTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2_chr12_51088656_51178135	51132357	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	9	0.1111	16	c.123 others(35): Show c.123-13601_123-13586dupAAAAAAAAAAAAAAAA	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	1/14			chr12	TogoVar
TFCP2_chr12_51088656_51178135	51149024	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	90	0.0111	16	c.122 others(35): Show c.122+23261_122+23276dupTTTTTTTTTTTTTTTT	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	1/14			chr12	TogoVar

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