Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TBC1D22A_chr22_46757650_47180693	47128213	C C	CCTCCCCT others(40): Show CCTCCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCATCCCTCCCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	112	0.0089	47	c.142 others(68): Show c.1425+16611_1425+16612insTCCCCTCCACCCCACCCATCCCCC CTTCCCTCACCCATCCCTCCCTC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCA others(40): Show TCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG01106.hp1 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0062 a0002c0003t0001g0207 a0001c0002t0001g0062 a0002c0003t0001g0207	2	280	0.0071	47	c.52 others(58): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGAGTGGGGGGGAGTGG GGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(40): Show TCCCCCCCACTCCCCCACTCCCCCCCACTCCCCCACTCCCCCCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	280	0.0036	47	c.52 others(58): Show c.5288_*5289insGGAGTGGGGGGAGTGGGGGAGTGGGGGGGAGTGG GGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192051	T T	TCTTTATA others(40): Show TCTTTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19083.hp2 NA19009.hp1 NA19083.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0028 a0003c0004t0003 a0003c0004t0028	a0003c0004t0003g0015 a0003c0004t0028g0010 a0003c0004t0003g0015 a0003c0004t0028g0010	2	292	0.0069	47	c.257 others(68): Show c.2570+13023_2570+13024insTATATATATATATATATATATATA TATATATATATATATATATAAAG	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D9_chr4_140615782_140761385	140712449	A A	AAATATAT others(40): Show AAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0218 a0001c0007t0001g0218	1	298	0.0034	47	c.131 others(66): Show c.131-10836_131-10835insATATATATATATATATATATATATAT ATATATATATATATATATATT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TBCD_chr17_82747065_82950914	82868889	C C	CGGCGTGT others(40): Show CGGCGTGTGCGTGGAGCGGGTCGTGTGCAGAGCCCCGAACGAGACCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02647.hp2 others(8): Show HG01891.hp1 HG02615.hp2 HG02647.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 NA20300.hp2 NA21309.hp2	a0002 a0016 a0002 a0016	a0002c0007 a0002c0011 a0002c0012 others(1): Show a0002c0007 a0002c0011 a0002c0012 a0016c0019	a0002c0007t0023 a0002c0011t0012 a0002c0012t0008 others(1): Show a0002c0007t0023 a0002c0011t0012 a0002c0012t0008 a0016c0019t0002	a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0011t0012g0161 others(8): Show a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0011t0012g0161 a0002c0011t0012g0163 a0002c0011t0012g0164 a0002c0011t0012g0165 a0002c0012t0008g0160 a0002c0012t0008g0162 a0002c0012t0008g0170 a0002c0012t0008g0171 a0016c0019t0002g0169	11	318	0.0346	47	c.131 others(66): Show c.1319-1253_1319-1207dupCGAACGAGACCCTGGCGTGTGCGTGG AGCGGGTCGTGTGCAGAGCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBX19_chr1_168275877_168319426	168298818	C C	CCTCCCTC others(40): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTTCCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	382	0.0026	47	c.665 others(64): Show c.665+1035_665+1036insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCCTTCCTTCCTTCTTCT	TBX19	ENSG00000143178.13	transcript	ENST00000367821.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCERG1L_chr10_131087391_131316721	131241487	G G	GGGATAGC others(40): Show GGGATAGCGCAATATAAAAACATAAGAGAGGACATGCATGAACACAGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	324	0.0031	47	c.856 others(66): Show c.856+18725_856+18771dupACTGTGTTCATGCATGTCCTCTCTTA TGTTTTTATATTGCGCTATCC	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131256992	G G	GGAAGGAA others(40): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0221 a0002c0004t0007g0221	1	324	0.0031	47	c.856 others(64): Show c.856+3266_856+3267insTTTCTTTCTTTCTTTCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTC	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCF12_chr15_56913644_57294853	56984014	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	330	0.0030	47	c.148 others(66): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57208380	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	330	0.0030	47	c.579 others(66): Show c.579+10574_579+10575insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF20_chr22_42155013_42275653	42219355	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0128 a0003c0004t0001g0128	1	355	0.0028	47	c.-36 others(64): Show c.-36-4015_-36-4014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	300	0.0033	47	c.-46 others(58): Show c.-4615_-4614insAAAAAAAATATATATATATATATATATATATATA TATATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF7L2_chr10_112945247_113172678	112966209	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	200	0.0050	47	c.450 others(64): Show c.450+1587_450+1588insATATATATATATATATATATATATATAT ATATATATATATATATAAT	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TDRD9_chr14_103923456_104057667	103968795	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	372	0.0027	47	c.766 others(64): Show c.766-1737_766-1736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TECPR1_chr7_98209624_98257232	98243125	T T	TCCACACA others(40): Show TCCACACACCCACCTATCCATCCTTCTGCCCACACACCACCCATCCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 NA21309.hp1 HG02615.hp2 HG02717.hp1 NA21309.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0115 a0002c0007t0116 a0002c0007t0117 a0002c0007t0115 a0002c0007t0116 a0002c0007t0117	a0002c0007t0115g0323 a0002c0007t0116g0324 a0002c0007t0117g0325 a0002c0007t0115g0323 a0002c0007t0116g0324 a0002c0007t0117g0325	3	346	0.0087	47	c.657 others(62): Show c.657+341_657+342insGTGGATGGGTGGTGTGTGGGCAGAAGGATG GATAGGTGGGTGTGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TECPR2_chr14_102357941_102507477	102495219	A A	ATTTTTTA others(40): Show ATTTTTTAAAGAGAACTTCTCGAAGCCTAATCATCCTTAAAAACATCT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0045 a0004c0004t0045	a0004c0004t0045g0153 a0004c0004t0045g0153	1	334	0.0030	47	c.379 others(66): Show c.3790-1754_3790-1753insAAAGAGAACTTCTCGAAGCCTAATCA TCCTTAAAAACATCTTTTTTT	TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
TET3_chr2_73979910_74113176	74032470	T T	TGTGTGTG others(40): Show TGTGTGTGTGCGCGCGCGCGCGCGATGGCCCCAGCGGCTGCAAGAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0187 a0001c0002t0062g0187	1	252	0.0040	47	c.361 others(66): Show c.361-13799_361-13798insCGCGCGCGCGCGCGATGGCCCCAGCG GCTGCAAGAGGGGTGTGTGTG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX11_chrX_70523940_70913711	70577753	C C	CAGTCTCT others(40): Show CAGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01192.hp1 others(4): Show HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01346.hp1 HG02622.hp2 HG02630.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0131 others(4): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139	7	229	0.0306	47	c.214 others(68): Show c.2140+13997_2140+13998insCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAGACT	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	25/29			chrX	TogoVar
TFDP2_chr3_141939428_142154544	141968405	T T	TATATATA others(40): Show TATATATAACATATATATAACATATATCATATATATAACATATATCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0100 a0001c0001t0106g0100	1	252	0.0040	47	c.732 others(64): Show c.732+1667_732+1668insGAGATATATGTTATATATATGATATATG TTATATATATGTTATATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	141968990	A A	ATATAACA others(40): Show ATATAACATATATATATCTCATATATATGAGATATATATATATAACAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0236 a0001c0001t0058g0236	1	252	0.0040	47	c.732 others(64): Show c.732+1082_732+1083insATGTTATATATATATATCTCATATATAT GAGATATATATATGTTATA	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TGFB1_chr19_41325323_41358922	41343922	T T	TAGGCTCT others(40): Show TAGGCTCTCCCTGGCCTCTGGACGATCATCTCCTGGACAGATCAAATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01257.hp2 others(18): Show HG00741.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp2 HG01884.hp2 HG02109.hp2 HG02258.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03239.hp1 HG03579.hp2 HG03927.hp1 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0132 a0002c0002t0001g0167 a0002c0002t0001g0168 others(18): Show a0002c0002t0001g0132 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027	21	372	0.0565	47	c.634 others(62): Show c.634+824_634+825insCATTTGATCTGTCCAGGAGATGATCGTCCA GAGGCCAGGGAGAGCCT	TGFB1	ENSG00000105329.11	transcript	ENST00000221930.6	protein_coding	3/6			chr19	TogoVar
TGFBR3_chr1_91675343_91891151	91816377	A A	ATTTTTCT others(40): Show ATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0091 a0001c0014t0004g0091	1	284	0.0035	47	c.62- others(64): Show c.62-18907_62-18906insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAAAA	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	2/16			chr1	TogoVar
THADA_chr2_43225851_43601038	43515149	T T	TATATATT others(40): Show TATATATTATATATAATATATTATATATAATATATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0003 a0021c0026t0003	a0021c0026t0003g0002 a0021c0026t0003g0002	1	206	0.0049	47	c.337 others(66): Show c.3375-6370_3375-6369insTATATTATATATTATATATTATATAT AATATATTATATATAATATAT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43515359	A A	AATATATA others(40): Show AATATATAATATTTTATATATAATATATAATATAATATATAATATTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0182 a0012c0018t0001g0182	1	206	0.0049	47	c.337 others(66): Show c.3375-6580_3375-6579insAAAATATTATATATTATATTATATAT TATATATAAAATATTATATAT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THBS2_chr6_169210785_169258846	169215038	A A	ATCCCTCC others(40): Show ATCCCTCCCTCTCTTCCCCTTTCTCTCTGGATGCCCTCTCTCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02895.hp2 others(3): Show HG01891.hp2 HG02055.hp1 HG02895.hp2 HG03225.hp1 NA18962.hp1 NA18982.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0036 a0001c0041 others(2): Show a0001c0001 a0001c0036 a0001c0041 a0008c0034 a0008c0053	a0001c0001t0001 a0001c0036t0001 a0001c0041t0001 others(2): Show a0001c0001t0001 a0001c0036t0001 a0001c0041t0001 a0008c0034t0001 a0008c0053t0001	a0001c0001t0001g0010 a0001c0036t0001g0333 a0001c0041t0001g0036 others(2): Show a0001c0001t0001g0010 a0001c0036t0001g0333 a0001c0041t0001g0036 a0008c0034t0001g0249 a0008c0053t0001g0312	6	396	0.0152	47	c.27 others(58): Show c.2783_*2784insGAGAGGGAGAGAGGGCATCCAGAGAGAAAGGGGA AGAGAGGGAGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding		746		chr6	TogoVar
THEMIS_chr6_127703200_127906058	127746987	A A	ATATATAG others(40): Show ATATATAGATATAATTATAGATATCTATATTTATATTATATATAATTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp1 NA19030.hp1 HG02717.hp2 HG03130.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0132 a0001c0002t0001g0133 a0002c0001t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0002c0001t0001g0131	3	223	0.0135	47	c.175 others(68): Show c.1759-27165_1759-27164insCAATTATATATAATATAAATATAG ATATCTATAATTATATCTATATA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127785206	A A	ATTGTCTA others(40): Show ATTGTCTACCTACCTAATCTATTATCTACCTACCTACCTATTATCTAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0130 a0001c0002t0004g0130	1	223	0.0045	47	c.175 others(68): Show c.1758+27676_1758+27677insATAGATAATAGGTAGGTAGGTAGA TAATAGATTAGGTAGGTAGACAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THRAP3_chr1_36219443_36310357	36253760	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0241 a0002c0003t0003g0241	1	252	0.0040	47	c.-13 others(66): Show c.-134-5603_-134-5602insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THSD4_chr15_71110471_71788383	71172694	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATGTGAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0007 a0002c0015t0007	a0002c0015t0007g0092 a0002c0015t0007g0092	1	116	0.0086	47	c.99+ others(64): Show c.99+17802_99+17803insATGTGACATATATATATATATATATATA TATATATATATATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71421158	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0095 a0001c0006t0017g0095	1	116	0.0086	47	c.115 others(66): Show c.1152+9365_1152+9366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0019 a0001c0044t0019	a0001c0044t0019g0030 a0001c0044t0019g0030	1	180	0.0056	47	c.190 others(66): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	137419379	T T	TTTTTTTT others(40): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01167.hp1 others(20): Show HG00609.hp1 HG00738.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01358.hp2 HG01515.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG03139.hp1 HG03471.hp1 HG03491.hp2 HG03669.hp1 HG04199.hp1 NA18747.hp2 NA18961.hp2 NA18990.hp1 NA19057.hp1 NA19057.hp2 NA19084.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0021	a0001c0001 a0001c0004 a0001c0005 others(13): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012 a0001c0017 a0001c0019 a0001c0031 a0002c0003 a0002c0006 a0002c0028 a0003c0002 a0003c0014 a0003c0018 a0004c0008 a0006c0046 a0021c0039	a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 others(19): Show a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0005t0010 a0001c0012t0011 a0001c0017t0001 a0001c0019t0016 a0001c0031t0004 a0002c0003t0001 a0002c0003t0009 a0002c0003t0017 a0002c0006t0001 a0002c0028t0001 a0003c0002t0003 a0003c0014t0018 a0003c0018t0001 a0004c0008t0001 a0004c0008t0010 a0006c0046t0004 a0021c0039t0002	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0010g0087 others(20): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0010g0087 a0001c0004t0001g0058 a0001c0005t0001g0022 a0001c0005t0003g0077 a0001c0005t0010g0078 a0001c0012t0011g0096 a0001c0017t0001g0045 a0001c0019t0016g0090 a0001c0031t0004g0060 a0002c0003t0001g0070 a0002c0003t0009g0073 a0002c0003t0017g0082 a0002c0006t0001g0067 a0002c0028t0001g0055 a0003c0002t0003g0088 a0003c0014t0018g0094 a0003c0018t0001g0046 a0004c0008t0001g0040 a0004c0008t0010g0079 a0006c0046t0004g0017 a0021c0039t0002g0004	23	98	0.2347	47	c.295 others(66): Show c.2959+7507_2959+7508insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCG	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	14/27			chr2	TogoVar
THSD7B_chr2_136760545_137682718	137419379	T T	TTTTTTTT others(40): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0003 a0001c0056t0003	a0001c0056t0003g0086 a0001c0056t0003g0086	1	98	0.0102	47	c.295 others(66): Show c.2959+7507_2959+7508insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTTGCTCTGTCG	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	14/27			chr2	TogoVar
THSD7B_chr2_136760545_137682718	137546364	A A	ATATATAT others(40): Show ATATATATATAATATATATTATATATATAATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0077 a0001c0005t0003g0077	1	98	0.0102	47	c.313 others(68): Show c.3139-16847_3139-16846insATATATATTATATATATAATATAT ATAATATATATATTATATATATA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM2_chr6_154990315_155262723	155028554	A A	ATGTACTG others(40): Show ATGTACTGTGTTACATATACTACATATATGTACTGTGTTACATATACT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0021 a0021	a0021c0046 a0021c0046	a0021c0046t0001 a0021c0046t0001	a0021c0046t0001g0084 a0021c0046t0001g0084	1	230	0.0044	47	c.-20 others(68): Show c.-209+33062_-209+33063insTGTACTGTGTTACATATACTACAT ATATGTACTGTGTTACATATACT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			chr6	TogoVar
TLDC2_chr20_36871138_36899235	36894453	G G	GAACTCCT others(40): Show GAACTCCTGACCTCAGTAAAGGCAATCATTTAGGCCAGGATGGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0050 a0001c0002t0008g0050	1	384	0.0026	47	c.16 others(58): Show c.1609_*1610insAACTCCTGACCTCAGTAAAGGCAATCATTTAGGC CAGGATGGTCTCA	TLDC2	ENSG00000101342.10	transcript	ENST00000217320.8	protein_coding		219		chr20	TogoVar
TLE4_chr9_79566965_79731882	79567123	C C	CCAGAACC others(40): Show CCAGAACCCAGTGATGTAGCCATGACCTAATCTTATATTACTCTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	258	0.0039	47	c.-56 others(58): Show c.-5668_-5667insCAGAACCCAGTGATGTAGCCATGACCTAATCTTA TATTACTCTGTGT	TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding		4841		chr9	TogoVar
TLE4_chr9_79566965_79731882	79727762	T T	TGTATATA others(40): Show TGTATATATATATGTGTATATATATATATATATATATATATATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	258	0.0039	47	c.26 others(58): Show c.2618_*2619insGTATATATATATGTGTATATATATATATATATAT ATATATATATACA	TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding		881		chr9	TogoVar
TLL1_chr4_165868237_166109457	166069572	T T	TTATAGTA others(40): Show TTATAGTATTATTTTCAACATATCATTGTCTAATAAAATAATTGCATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0116 a0001c0003t0003g0116	1	250	0.0040	47	c.218 others(66): Show c.2188+3710_2188+3756dupTATAGTATTATTTTCAACATATCATT GTCTAATAAAATAATTGCATA	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMCO3_chr13_113486021_113555229	113543433	C C	CCCCGCCC others(40): Show CCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02293.hp2 HG00280.hp1 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0252 a0001c0006t0001g0253 a0001c0006t0001g0252 a0001c0006t0001g0253	2	368	0.0054	47	c.169 others(66): Show c.1691-3866_1691-3865insCCGCCCTCCCTCTGTGGGTGACTCCA CTTCCTCCCCCTGCCCCCCGC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEFF1_chr9_100468149_100582636	100497320	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	242	0.0041	47	c.197 others(64): Show c.197-1421_197-1420insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	TMEFF1	ENSG00000241697.5	transcript	ENST00000374879.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM117_chr12_43831081_44394758	44393519	T T	TTTTTTGA others(40): Show TTTTTTGACTTGCCCGAGTACAGATGGTGAACCTCAGGCTTAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02895.hp1 HG02055.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0077 a0001c0001t0001g0024 a0001c0001t0001g0077	2	110	0.0182	47	c.48 others(58): Show c.4847_*4848insTTTTTGACTTGCCCGAGTACAGATGGTGAACCTC AGGCTTAGAGAGG	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding		3762		chr12	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGGCCGGG others(40): Show AGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02129.hp2 NA18747.hp1 others(1): Show HG00609.hp1 HG02129.hp2 NA18747.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0045 a0001c0002t0001g0067 a0001c0002t0001g0018 a0001c0002t0001g0045 a0001c0002t0001g0067	4	368	0.0109	47	c.378 others(62): Show c.378-250_378-249insCCCTCCACCCCCCCACCCGGCCTTCCCCTC CACCCCCCCACCCGGCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGGCGGGG others(40): Show AGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp2 HG03098.hp1 others(2): Show HG01243.hp1 HG02886.hp2 HG03098.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0014 a0001c0001t0001g0197 a0001c0001t0001g0199	5	368	0.0136	47	c.378 others(62): Show c.378-250_378-249insCCCTCCACACACCCACCCGGCCTTCCCCTC CACACCCCCTCCCCGCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75989077	T T	TGGAGGGG others(40): Show TGGAGGGGGTGGAGGTTGAGGGGGGGGAGGGGTGGAGGTTGAGGGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	368	0.0027	47	c.377 others(60): Show c.377+87_377+88insCCCCCCTCAACCTCCACCCCTCCCCCCCCTCA ACCTCCACCCCCTCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM130_chr7_98841490_98875014	98842402	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATAATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0287 a0001c0001t0034g0287	1	380	0.0026	47	c.56 others(58): Show c.5653_*5654insGTATATATATTATATATATATATATATATATATA TATATATATATAT	TMEM130	ENSG00000166448.15	transcript	ENST00000339375.9	protein_coding		4087		chr7	TogoVar
TMEM132B_chr12_125181386_125667369	125190535	G G	GTGATGGT others(40): Show GTGATGGTGATGGTGATGGTGATAGTGATGGTGATAGGGAAGGGGTGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0006 a0001c0037t0006	a0001c0037t0006g0016 a0001c0037t0006g0016	1	128	0.0078	47	c.67+ others(62): Show c.67+3681_67+3727dupGTGATGGTGATAGTGATGGTGATAGGGAAG GGGTGATGATGGTGATG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128609240	T T	TGTAACCC others(40): Show TGTAACCCCCGCCTCCCTGCAACACTGTTACCCCCCACCTCCCTGCAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0009 a0009	a0009c0003 a0009c0003	a0009c0003t0001 a0009c0003t0001	a0009c0003t0001g0128 a0009c0003t0001g0128	1	170	0.0059	47	c.112 others(66): Show c.1122-6910_1122-6909insAACCCCCGCCTCCCTGCAACACTGTT ACCCCCCACCTCCCTGCAAGT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM156_chr4_38961744_39037409	38992682	T T	TTATATAA others(40): Show TTATATAATATATTATATAATATATATATATTATATATATATAATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	386	0.0026	47	c.619 others(64): Show c.619+1009_619+1055dupTATATTATATATATATAATATATATATA TTATATAATATATTATATA	TMEM156	ENSG00000121895.8	transcript	ENST00000381938.4	protein_coding	3/6			chr4	TogoVar

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