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
TET1_chr10_68555337_68699487	68555522	T T	TTATCTAT others(25): Show TTATCTATCTATCTATCTATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0250 a0004c0003t0003g0250	1	12	0.0833	32	c.-53 others(43): Show c.-5343_-5342insTATCTATCTATCTATCTATCTATCTATCTATC	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding		4814		chr10	TogoVar
TET2_chr4_105141876_105284803	105224684	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0084 a0004c0004t0084	a0004c0004t0084g0072 a0004c0004t0084g0072	1	17	0.0588	32	c.-46 others(49): Show c.-46-9201_-46-9170dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
TET2_chr4_105141876_105284803	105284079	T T	TACACGTG others(25): Show TACACGTGTATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0097 a0006c0006t0097	a0006c0006t0097g0069 a0006c0006t0097g0069	1	340	0.0029	32	c.75 others(43): Show c.7560_*7561insACACGTGTATATATATATATATATATATACAC	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding		4277		chr4	TogoVar
TEX11_chrX_70523940_70913711	70621549	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	193	0.0052	32	c.175 others(51): Show c.1751+2400_1751+2401insATATATATATATATATATATATATAT ATATAT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	20/29			chrX	TogoVar
TEX15_chr8_30826544_30918008	30889934	C C	CATATATA others(25): Show CATATATATATATATACATATATATATATACAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0226 a0005c0005t0001g0226	1	199	0.0050	32	c.-9- others(47): Show c.-9-2624_-9-2623insATGTATATATATATATGTATATATATATAT AT	TEX15	ENSG00000133863.9	transcript	ENST00000643185.2	protein_coding	2/10			chr8	TogoVar
TEX30_chr13_102760888_102778786	102775726	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	451	0.0022	32	c.-21 others(43): Show c.-2106_-2105insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	TEX30	ENSG00000151287.17	transcript	ENST00000376032.9	protein_coding		1941		chr13	TogoVar
TEX33_chr22_36986125_37012851	36999569	G G	GGGAGGGG others(25): Show GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0072 a0003c0003t0001g0072	1	275	0.0036	32	c.634 others(47): Show c.634+270_634+271insTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999571	A A	AGGGGAGG others(25): Show AGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02922.hp2 HG03471.hp1 others(1): Show HG01071.hp1 HG02922.hp2 HG03471.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0003c0003t0001g0024 a0003c0003t0001g0039 a0001c0001t0001g0003 a0003c0003t0001g0024 a0003c0003t0001g0039	4	173	0.0231	32	c.634 others(47): Show c.634+268_634+269insCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999571	A A	AGGGGAGG others(25): Show AGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	170	0.0059	32	c.634 others(47): Show c.634+268_634+269insCCTCCCCTCCCCCCCTCCCCTCCCCCCTCC CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999571	A A	AGGGGAGG others(25): Show AGGGGAGGGGGGGAGGGGAGGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18972.hp2 NA18988.hp2 others(1): Show HG01256.hp1 NA18972.hp2 NA18988.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0142 others(1): Show a0001c0001t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0142 a0003c0003t0001g0147	4	173	0.0231	32	c.634 others(47): Show c.634+268_634+269insCCTCCCCTCCCCCCTCCCCTCCCCCCCTCC CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999571	A A	AGGGGGAG others(25): Show AGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	170	0.0059	32	c.634 others(47): Show c.634+268_634+269insCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX33_chr22_36986125_37012851	36999580	G G	GGGAGGGG others(25): Show GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG01346.hp1 others(5): Show HG00738.hp1 HG01168.hp2 HG01346.hp1 HG01358.hp1 HG02145.hp1 NA18949.hp1 NA19005.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0067 a0003c0003t0001g0045 a0001c0001t0001g0009 a0001c0001t0001g0067 a0003c0003t0001g0045	8	395	0.0203	32	c.634 others(47): Show c.634+259_634+260insTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CC	TEX33	ENSG00000185264.12	transcript	ENST00000381821.2	protein_coding	4/5			chr22	TogoVar
TEX43_chr5_126626705_126641284	126633024	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19030.hp2 HG02145.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0059 a0001c0002t0001g0068	2	393	0.0051	32	c.195 others(47): Show c.195+379_195+380insTATATATATATATATATATATAAATATATA TA	TEX43	ENSG00000196900.5	transcript	ENST00000357147.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
TEX45_chr19_7492548_7513450	7495006	C C	CTCCCTCC others(25): Show CTCCCTCCTTCCCTCCTTCTCTCCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0002	1	381	0.0026	32	c.-26 others(43): Show c.-2694_-2693insTCCCTCCTTCCCTCCTTCTCTCCCTCCCTCCT	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding		2541		chr19	TogoVar
TEX45_chr19_7492548_7513450	7499940	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0128 a0005c0006t0001g0128	1	434	0.0023	32	c.-17 others(47): Show c.-17-840_-17-839insTGTGTATGTGTGTGTGTGTGTGTGTGTGTG TG	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX49_chr12_48722435_48770790	48723769	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	175	0.0057	32	c.-37 others(43): Show c.-3712_-3711insTATATATATATATATATATATATATATATGTA	TEX49	ENSG00000257987.6	transcript	ENST00000548380.6	protein_coding		3665		chr12	TogoVar
TEX49_chr12_48722435_48770790	48723799	A A	ATATACGT others(25): Show ATATACGTATATATATATATATATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	317	0.0032	32	c.-36 others(43): Show c.-3682_-3681insTATACGTATATATATATATATATATATATACG	TEX49	ENSG00000257987.6	transcript	ENST00000548380.6	protein_coding		3635		chr12	TogoVar
TFB1M_chr6_155251134_155319484	155305277	T T	TATATATT others(25): Show TATATATTAAATTATATATTTATATATATAAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0249 a0001c0001t0018g0249	1	343	0.0029	32	c.285 others(49): Show c.285+5879_285+5910dupGTTTATATATATAAATATATAATTTAAT ATAT	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305322	A A	ATATATTT others(25): Show ATATATTTATATATATAAACATATATTAAATTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0051 a0001c0001t0030g0051	1	345	0.0029	32	c.285 others(49): Show c.285+5865_285+5866insCAATTTAATATATGTTTATATATATAAA TATA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFDP1_chr13_113579753_113646473	113625588	G G	GGTGTCTC others(25): Show GGTGTCTCTCACGTGTCCTCAGGTGTCTCTCAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	271	0.0037	32	c.186 others(49): Show c.186+2318_186+2319insCTCAGGTGTCTCTCACGTGTCTCTCACG TGTC	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP2_chr3_141939428_142154544	141968542	T T	TATATATA others(25): Show TATATATATCTCATATATATAGATATATATAAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03704.hp1 NA18956.hp2 others(3): Show HG01261.hp1 HG03704.hp1 NA18956.hp2 NA19081.hp1 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0004g0043 a0001c0001t0004g0207 a0001c0001t0007g0044	6	249	0.0241	32	c.732 others(49): Show c.732+1499_732+1530dupGTTATATATATCTATATATATGAGATAT ATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968576	T T	TATATATC others(25): Show TATATATCTCATATATATAGATATATATAACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp2 HG02896.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0039 a0001c0002t0013 a0001c0002t0039	a0001c0002t0013g0009 a0001c0002t0039g0011 a0001c0002t0013g0009 a0001c0002t0039g0011	2	248	0.0081	32	c.732 others(49): Show c.732+1496_732+1497insGTGTTATATATATCTATATATATGAGAT ATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968602	A A	AACATATA others(25): Show AACATATATATCTCATATATAGATATATATAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0045 a0001c0001t0078g0045	1	240	0.0042	32	c.732 others(49): Show c.732+1439_732+1470dupGTTATATATATCTATATATGAGATATAT ATGT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968760	A A	AACATATA others(25): Show AACATATATATCTCATATATAGATATATATAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01928.hp2 HG02622.hp2 HG01081.hp2 HG01928.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0068 a0001c0001t0084 a0001c0001t0065 a0001c0001t0068 a0001c0001t0084	a0001c0001t0065g0073 a0001c0001t0068g0147 a0001c0001t0084g0222 a0001c0001t0065g0073 a0001c0001t0068g0147 a0001c0001t0084g0222	3	170	0.0176	32	c.732 others(49): Show c.732+1281_732+1312dupGTTATATATATCTATATATGAGATATAT ATGT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFE3_chrX_49023726_49048357	49024773	T T	TAACAGCC others(25): Show TAACAGCCAGCAAGGAACTGGGGCCCTCTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	32	c.53 others(43): Show c.5384_*5385insGGACAGAGGGCCCCAGTTCCTTGCTGGCTGTT	TFE3	ENSG00000068323.17	transcript	ENST00000315869.8	protein_coding		3952		chrX	TogoVar
TFPI2_chr7_93880396_93895753	93888520	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18975.hp2 NA18981.hp2 others(1): Show HG02015.hp2 NA18975.hp2 NA18981.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0003g0060 a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0003g0060	4	428	0.0093	32	c.460 others(47): Show c.460+514_460+515insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT TC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	180	0.0056	32	c.460 others(47): Show c.460+447_460+448insCTTTCTCTTTCCTTCCTTCCTTCCTTCCTT CC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888589	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	142	0.0070	32	c.460 others(47): Show c.460+445_460+446insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFR2_chr7_100615420_100646552	100634177	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	58	0.0172	32	c.474 others(47): Show c.474-653_474-622dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	TFR2	ENSG00000106327.13	transcript	ENST00000223051.8	protein_coding	3/17			chr7	TogoVar
TGFA_chr2_70442284_70558826	70504449	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp2 NA18980.hp1 HG00323.hp2 HG01192.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0129 a0001c0002t0003g0133 a0001c0002t0003g0227 a0001c0001t0001g0129 a0001c0002t0003g0133 a0001c0002t0003g0227	3	313	0.0096	32	c.94+ others(49): Show c.94+10409_94+10410insGTATGTATATATATATATATATATATAT ATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504451	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0149 a0001c0002t0003g0149	1	336	0.0030	32	c.94+ others(49): Show c.94+10407_94+10408insGTATGTATATATATATATATATATATAT ATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504483	T T	TATATATA others(25): Show TATATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	222	0.0045	32	c.94+ others(49): Show c.94+10375_94+10376insGTATGTATGTATATATATATATATATAT ATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFBR3_chr1_91675343_91891151	91734053	A A	AGAGGGAG others(25): Show AGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp2 NA18522.hp2 HG02486.hp2 HG02809.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0065 a0001c0003t0003g0067 a0001c0003t0003g0163 a0001c0003t0003g0065 a0001c0003t0003g0067 a0001c0003t0003g0163	3	12	0.2500	32	c.568 others(47): Show c.568+722_568+723insCCTCCCTCCCTCTCTCCCTCCCTCTCTCCC TC	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	5/16			chr1	TogoVar
TGM2_chr20_38122385_38170270	38149678	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	224	0.0045	32	c.552 others(49): Show c.552+1260_552+1261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar
TGS1_chr8_55768446_55831445	55801582	C C	CCTTTTTT others(25): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0306 a0003c0003t0005g0306	1	112	0.0089	32	c.185 others(49): Show c.1850-875_1850-874insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	8/12			chr8	TogoVar
THADA_chr2_43225851_43601038	43229819	A A	AGAGTGTG others(25): Show AGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA18522.hp2 HG02258.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0001 a0002c0009t0001 a0002c0003t0001 a0002c0009t0001	a0002c0003t0001g0142 a0002c0009t0001g0025 a0002c0003t0001g0142 a0002c0009t0001g0025	2	114	0.0175	32	c.11 others(43): Show c.1128_*1129insACACACACACACACACACACACACACACACTC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding		1031		chr2	TogoVar
THADA_chr2_43225851_43601038	43400457	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG03927.hp1 HG00735.hp1 HG01123.hp1 HG03927.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0036 a0005c0004t0001g0038 a0005c0004t0001g0041 a0005c0004t0001g0036 a0005c0004t0001g0038 a0005c0004t0001g0041	3	117	0.0256	32	c.405 others(51): Show c.4059-2319_4059-2318insTATATATATATATATATATATATATA TATATA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43514889	T T	TATAATAT others(25): Show TATAATATTTTATGTATAATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0028 a0006c0005t0001g0028	1	204	0.0049	32	c.337 others(51): Show c.3375-6110_3375-6109insTATATATTATATTATTATACATAAAA TATTAT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THAP4_chr2_241579405_241642158	241630690	A A	AATTGCTT others(25): Show AATTGCTTGAACCCGGGAGGTGGAGGTTGCGGT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	388	0.0026	32	c.124 others(51): Show c.1240+2195_1240+2226dupACCGCAACCTCCACCTCCCGGGTTCA AGCAAT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	2/5			chr2	TogoVar
THAP7_chr22_20994104_21007118	21005275	A A	AGAGGGGG others(25): Show AGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	1	430	0.0023	32	c.-33 others(43): Show c.-3365_-3364insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTC	THAP7	ENSG00000184436.12	transcript	ENST00000215742.9	protein_coding		3158		chr22	TogoVar
THEM4_chr1_151865866_151914511	151878889	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18941.hp1 NA19081.hp1 HG02723.hp1 NA18941.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0055 a0001c0001t0002 a0001c0001t0011 a0001c0001t0055	a0001c0001t0002g0236 a0001c0001t0011g0213 a0001c0001t0055g0127 a0001c0001t0002g0236 a0001c0001t0011g0213 a0001c0001t0055g0127	3	61	0.0492	32	c.558 others(49): Show c.558-1765_558-1764insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding	4/5			chr1	TogoVar
THEMIS_chr6_127703200_127906058	127731864	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02083.hp2 HG04228.hp1 HG01361.hp1 HG02083.hp2 HG04228.hp1	a0002 a0002	a0002c0001 a0002c0009 a0002c0001 a0002c0009	a0002c0001t0001 a0002c0009t0001 a0002c0001t0001 a0002c0009t0001	a0002c0001t0001g0115 a0002c0001t0001g0153 a0002c0009t0001g0214 a0002c0001t0001g0115 a0002c0001t0001g0153 a0002c0009t0001g0214	3	8	0.3750	32	c.175 others(53): Show c.1759-12042_1759-12041insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127842633	T T	TATAAAAA others(25): Show TATAAAAATGATAAAGAGATAAATGATAAAATG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0201 a0002c0001t0001g0201	1	222	0.0045	32	c.250 others(51): Show c.250+12396_250+12397insCATTTTATCATTTATCTCTTTATCAT TTTTAT	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	2/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127862428	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	55	0.0182	32	c.92- others(47): Show c.92-7241_92-7240insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	1/5			chr6	TogoVar
THOC5_chr22_29500879_29558757	29534351	G G	GCTGGTTA others(25): Show GCTGGTTATACAGATGTGTTTGCTTAGTGAAAT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0257 a0002c0003t0001g0257	1	382	0.0026	32	c.714 others(49): Show c.714+2272_714+2273insATTTCACTAAGCAAACACATCTGTATAA CCAG	THOC5	ENSG00000100296.14	transcript	ENST00000490103.6	protein_coding	7/19			chr22	TogoVar
THRAP3_chr1_36219443_36310357	36295554	T T	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01975.hp2 HG01993.hp2 others(11): Show HG00597.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02135.hp1 NA18747.hp2 NA18968.hp1 NA18974.hp1 NA18980.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0006t0005 a0001c0001t0001 a0001c0006t0001 a0001c0006t0005	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0006t0001g0199 others(11): Show a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0006t0001g0199 a0001c0006t0001g0201 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0006t0001g0205 a0001c0006t0001g0208 a0001c0006t0001g0211 a0001c0006t0001g0212 a0001c0006t0001g0213 a0001c0006t0001g0218 a0001c0006t0001g0229 a0001c0006t0005g0202	14	242	0.0579	32	c.211 others(51): Show c.2116-1006_2116-1005insTTCCTTCCCTCCTTCCTTCCTTCCTT CCTTCC	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRB_chr3_24112153_24499850	24168490	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	127	0.0079	32	c.284 others(51): Show c.284-16001_284-16000insATATATATATATATATATATATATAT ATATAT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24188858	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp2 HG02109.hp2 others(3): Show HG01255.hp2 HG01934.hp2 HG02109.hp2 HG02257.hp1 HG03942.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0034 a0001c0002t0003	a0001c0001t0002g0036 a0001c0001t0008g0006 a0001c0001t0011g0055 others(3): Show a0001c0001t0002g0036 a0001c0001t0008g0006 a0001c0001t0011g0055 a0001c0001t0011g0075 a0001c0001t0034g0154 a0001c0002t0003g0030	6	55	0.1091	32	c.283 others(49): Show c.283+1215_283+1216insATATATATATATATATATATATATATAT ATAT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0063 a0001c0006t0001g0063	1	22	0.0455	32	c.101 others(53): Show c.1015+69986_1015+69987insAAAAAATATATATATATATATATA TATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71377875	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	108	0.0093	32	c.101 others(53): Show c.1016-33781_1016-33780insAACACACACACACACACACACACA CACACACA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar

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