Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
SYNE3_chr14_95402266_95521650	95499856	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp1 HG03195.hp2 HG02647.hp1 HG03041.hp1 HG03195.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0022 a0002c0038 a0003c0042 a0001c0022 a0002c0038 a0003c0042	a0001c0022t0029 a0002c0038t0044 a0003c0042t0174 a0001c0022t0029 a0002c0038t0044 a0003c0042t0174	a0001c0022t0029g0189 a0002c0038t0044g0188 a0003c0042t0174g0187 a0001c0022t0029g0189 a0002c0038t0044g0188 a0003c0042t0174g0187	3	384	0.0078	29	c.-15 others(48): Show c.-15+16739_-15+16740insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	1/17			chr14	TogoVar
SYNJ2_chr6_157976863_158104176	158020190	T T	TGTGACTC others(22): Show TGTGACTCTGACTGTGTGACCCCCACCTGC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0047 a0002c0002t0003g0047	1	312	0.0032	29	c.214 others(46): Show c.214+2966_214+2994dupTGACTGTGTGACCCCCACCTGCGTGACT C	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0030 a0005c0006t0004g0030	1	420	0.0024	29	c.-64 others(38): Show c.-645_-644insTATATATATATATATATATATTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 NA19072.hp2 HG03225.hp2 NA19072.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0003 a0005c0006t0004 a0003c0003t0003 a0005c0006t0004	a0003c0003t0003g0004 a0005c0006t0004g0063 a0003c0003t0003g0004 a0005c0006t0004g0063	2	420	0.0048	29	c.-64 others(38): Show c.-645_-644insTATATATATATATATATATTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0192 a0005c0006t0004g0192	1	420	0.0024	29	c.-64 others(38): Show c.-645_-644insTATATATATATATATATTTTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNPO2_chr4_118883854_119066247	119022733	T T	TTATTTTA others(22): Show TTATTTTATGTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	310	0.0032	29	c.106 others(44): Show c.106-688_106-660dupGTTTTATTTTATTTTATTTTATATTTTAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63408142	A A	AAAAGAAA others(22): Show AAAAGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	246	0.0041	29	c.85- others(46): Show c.85-72671_85-72670insAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT15B_chr10_47739717_47768592	47739975	C C	CACACTAC others(22): Show CACACTACTCAGGAGGCTGAGGCAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0104 a0002c0002t0104	a0002c0002t0104g0177 a0002c0002t0104g0177	1	340	0.0029	29	c.14 others(42): Show c.14196_*14197insTCTTCCTGCCTCAGCCTCCTGAGTAGTGT	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		4741		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47743348	A A	ATATACAC others(22): Show ATATACACATATATATATATACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0118 a0001c0001t0078g0118	1	340	0.0029	29	c.10 others(42): Show c.10823_*10824insATATATATGTATATATATATATGTGTATA	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		1368		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744412	G G	GGGGGGGG others(22): Show GGGGGGGGGGGTTGGGGGGGGAGGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0068 a0001c0003t0060g0068	1	340	0.0029	29	c.97 others(40): Show c.9759_*9760insTTCCCCCCTCCCCCCCCAACCCCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		304		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744412	G G	GGGGGGGG others(22): Show GGGGGGGGGTTGGGGGGGGGAGGGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	340	0.0029	29	c.97 others(40): Show c.9759_*9760insTTCCCCCCCTCCCCCCCCCAACCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		304		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744412	G G	GGGGGGGG others(22): Show GGGGGGGGGTTGGGGGGGGGGAGGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	340	0.0029	29	c.97 others(40): Show c.9759_*9760insTTCCCCCCTCCCCCCCCCCAACCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		304		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744413	G G	GGGGGGGG others(22): Show GGGGGGGGGGGTTGGGGGGGGAGGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02818.hp2 HG02451.hp2 HG02572.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0040 a0002c0002t0008g0191 a0002c0002t0008g0194 a0002c0002t0008g0040 a0002c0002t0008g0191 a0002c0002t0008g0194	3	340	0.0088	29	c.97 others(40): Show c.9758_*9759insTTCCCCCCTCCCCCCCCAACCCCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		303		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744413	G G	GGGGGGGG others(22): Show GGGGGGGGGGTTGGGGGGGGGAGGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02015.hp1 HG02818.hp1 others(1): Show HG01109.hp1 HG02015.hp1 HG02818.hp1 NA18747.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0005 a0001c0003 a0002c0002 a0003c0005	a0001c0003t0003 a0002c0002t0094 a0003c0005t0029 a0001c0003t0003 a0002c0002t0094 a0003c0005t0029	a0001c0003t0003g0003 a0002c0002t0094g0190 a0003c0005t0029g0064 a0001c0003t0003g0003 a0002c0002t0094g0190 a0003c0005t0029g0064	4	340	0.0118	29	c.97 others(40): Show c.9758_*9759insTTCCCCCCTCCCCCCCCCAACCCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		303		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744413	G G	GGGGGGGG others(22): Show GGGGGGGGGGTTGGGGGGGGGATGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	340	0.0029	29	c.97 others(40): Show c.9758_*9759insTTCCCCCATCCCCCCCCCAACCCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		303		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744414	G G	GGGGGGGG others(22): Show GGGGGGGGGGTTGGGGGGGGGAGGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0196 a0002c0002t0008g0196	1	340	0.0029	29	c.97 others(40): Show c.9757_*9758insTTCCCCCCTCCCCCCCCCAACCCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		302		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744423	T T	TGGGGGGG others(22): Show TGGGGGGGGGAGGGGGGAAGGGGGGGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA18969.hp1 HG02280.hp1 NA18969.hp1	a0001 a0010 a0001 a0010	a0001c0003 a0010c0010 a0001c0003 a0010c0010	a0001c0003t0052 a0010c0010t0093 a0001c0003t0052 a0010c0010t0093	a0001c0003t0052g0070 a0010c0010t0093g0189 a0001c0003t0052g0070 a0010c0010t0093g0189	2	340	0.0059	29	c.97 others(40): Show c.9748_*9749insCAACCCCCCCCTTCCCCCCTCCCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		293		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744423	T T	TGGGGGGG others(22): Show TGGGGGGGGGATGGGGGAAGGGGGGGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02135.hp2 HG00597.hp1 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0092 a0002c0002t0001 a0002c0002t0092	a0002c0002t0001g0004 a0002c0002t0092g0158 a0002c0002t0001g0004 a0002c0002t0092g0158	2	340	0.0059	29	c.97 others(40): Show c.9748_*9749insCAACCCCCCCCTTCCCCCATCCCCCCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		293		chr10	TogoVar
SYT15B_chr10_47739717_47768592	47744428	G G	GGGGGATG others(22): Show GGGGGATGGGGGAAGGGGGGGTTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0005 a0002c0002t0007g0005	1	340	0.0029	29	c.97 others(40): Show c.9743_*9744insACCCCCCAACCCCCCCTTCCCCCATCCCC	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		288		chr10	TogoVar
SYT2_chr1_202585596_202715454	202663006	G G	GGAATGTA others(22): Show GGAATGTACCTTGATGAGCTGTTTGATCGT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	276	0.0036	29	c.-18 others(48): Show c.-18+47251_-18+47252insACGATCAAACAGCTCATCAAGGTACA TTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT5_chr19_55166196_55185289	55170873	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18984.hp2 NA18954.hp1 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	410	0.0049	29	c.26 others(40): Show c.2610_*2611insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		322		chr19	TogoVar
TAB2_chr6_149312712_149416607	149358673	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	366	0.0027	29	c.-89 others(48): Show c.-89-11236_-89-11235insGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	TAB2	ENSG00000055208.20	transcript	ENST00000637181.2	protein_coding	1/6			chr6	TogoVar
TACC2_chr10_121984163_122259542	122028087	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	306	0.0033	29	c.33+ others(44): Show c.33+6085_33+6086insCTTTCTTTCTTTCTTTCTTTTTTTTTTTT	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TACR1_chr2_75041463_75204520	75154401	A A	AGCGCGCT others(22): Show AGCGCGCTCGCGTGCGCGCGCGCTGCGCGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	282	0.0036	29	c.390 others(48): Show c.390-33634_390-33633insGCGCGCAGCGCGCGCGCACGCGAGCG CGC	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar
TAF1B_chr2_9838474_9939416	9916834	G G	GTTGTTTT others(22): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0357 a0002c0002t0001g0361 a0002c0002t0001g0357 a0002c0002t0001g0361	2	374	0.0054	29	c.127 others(48): Show c.1272-2205_1272-2204insGTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TAF1B	ENSG00000115750.17	transcript	ENST00000263663.10	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
TAF1_chrX_71361357_71471005	71470493	G G	GACGGCAG others(22): Show GACGGCAGAAGTGCTGGGAGTGTACAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0193 a0003c0004t0001g0193	1	200	0.0050	29	c.64 others(40): Show c.6447_*6448insACGGCAGAAGTGCTGGGAGTGTACAGTGT	TAF1	ENSG00000147133.17	transcript	ENST00000423759.6	protein_coding		4489		chrX	TogoVar
TAF3_chr10_7813505_8021631	7871435	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0177 a0003c0003t0004g0177	1	344	0.0029	29	c.409 others(48): Show c.409+46900_409+46901insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
TAF4B_chr18_26221445_26396685	26285210	C C	CTTTCCTT others(22): Show CTTTCCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19068.hp2 NA19002.hp1 NA19068.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0253 a0001c0005t0006g0260 a0001c0005t0006g0253 a0001c0005t0006g0260	2	274	0.0073	29	c.973 others(44): Show c.973-669_973-668insCCTTTTTTTTTTTTTTTTTTTTTTTTTTT	TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
TAF4B_chr18_26221445_26396685	26285222	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	274	0.0037	29	c.973 others(44): Show c.973-648_973-647insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
TAF4_chr20_61969798_62070881	61977980	G G	GCCGAGGG others(22): Show GCCGAGGGTAAGAAATCAAGATATTCTAAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0213 a0001c0005t0001g0213	1	314	0.0032	29	c.309 others(48): Show c.3091-1674_3091-1646dupGTTAGAATATCTTGATTTCTTACCCT CGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982586	C C	CCCCACCC others(22): Show CCCCACCCGAGAGGAGACACCAAACCCACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	314	0.0032	29	c.309 others(48): Show c.3091-6280_3091-6252dupTGTGGGTTTGGTGTCTCCTCTCGGGT GGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAFA1_chr3_67999247_68550621	68173337	T T	TGGATATT others(22): Show TGGATATTTAATGGATATCATATTTAATGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG03516.hp1 others(2): Show HG02109.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016	a0001c0001t0002g0015 a0001c0001t0004g0124 a0001c0001t0008g0008 others(2): Show a0001c0001t0002g0015 a0001c0001t0004g0124 a0001c0001t0008g0008 a0001c0001t0015g0120 a0001c0001t0016g0013	5	156	0.0321	29	c.118 others(50): Show c.118+166593_118+166594insGGATATTTAATGGATATCATATTT AATGG	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4			chr3	TogoVar
TAFA2_chr12_61703273_62197773	61724801	G G	GTGTGTAT others(22): Show GTGTGTATACACCAGATGGGTGTATATGTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02809.hp2 HG02559.hp2 HG02630.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0007 a0001c0001t0027	a0001c0001t0007g0116 a0001c0001t0007g0182 a0001c0001t0027g0199 a0001c0001t0007g0116 a0001c0001t0007g0182 a0001c0001t0027g0199	3	220	0.0136	29	c.385 others(48): Show c.385-14385_385-14384insTACATATACACCCATCTGGTGTATAC ACA	TAFA2	ENSG00000198673.11	transcript	ENST00000416284.8	protein_coding	4/4			chr12	TogoVar
TAFA5_chr22_48484553_48756932	48620910	C C	CCCACCCA others(22): Show CCCACCCACACTATCCATCCACCCACCCAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	258	0.0039	29	c.113 others(48): Show c.113-25682_113-25681insCACACTATCCATCCACCCACCCAACC ACC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48694826	C C	CGACCTCC others(22): Show CGACCTCCGCCCCCACCCCCCGCCGCTCCA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	258	0.0039	29	c.263 others(48): Show c.263-12887_263-12859dupCTCCGCCCCCACCCCCCGCCGCTCCA GAC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48729232	T T	TATTTTAT others(22): Show TATTTTATATTTATTTATAAATATATAATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(36): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01261.hp1 HG02015.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02451.hp1 HG02615.hp2 HG02735.hp2 HG02809.hp2 HG03139.hp2 HG04184.hp2 HG04228.hp2 NA18944.hp2 NA18945.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18994.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19074.hp1 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0024 a0001c0001t0029 a0001c0001t0035	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(36): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0002g0009 a0001c0001t0002g0213 a0001c0001t0003g0206 a0001c0001t0004g0016 a0001c0001t0004g0027 a0001c0001t0004g0199 a0001c0001t0010g0176 a0001c0001t0011g0055 a0001c0001t0016g0222 a0001c0001t0024g0202 a0001c0001t0029g0026 a0001c0001t0035g0227	39	258	0.1512	29	c.391 others(48): Show c.391-20548_391-20520dupATTTTATATTTATTTATAAATATATA ATA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48729273	A A	ATTTATAA others(22): Show ATTTATAAATATATAATAATTTTATATTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	258	0.0039	29	c.391 others(48): Show c.391-20538_391-20537insCTTTATAAATATATAATAATTTTATA TTT	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48729291	A A	ATTTTATA others(22): Show ATTTTATATTTATTTATAAATATATAATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0144 a0001c0003t0012g0144	1	258	0.0039	29	c.391 others(48): Show c.391-20533_391-20505dupATAAATATATAATATTTTTATATTTA TTT	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAL2_chr9_105657457_105668124	105667935	A A	AACTCAAG others(22): Show AACTCAAGCAAATTTTCTAGCTTTTCCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	420	0.0024	29	c.51 others(40): Show c.5112_*5113insACTCAAGCAAATTTTCTAGCTTTTCCTAG	TAL2	ENSG00000186051.7	transcript	ENST00000334077.6	protein_coding		4812		chr9	TogoVar
TAMM41_chr3_11785442_11851885	11793083	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0218 a0001c0001t0001g0219	2	372	0.0054	29	c.938 others(46): Show c.938-2503_938-2502insCTTTTTTTTTTTTTTTTTTTTTTTTTTT T	TAMM41	ENSG00000144559.11	transcript	ENST00000455809.6	protein_coding	7/7			chr3	TogoVar
TANC1_chr2_158963640_159237659	158981665	T T	TGTTTTCA others(22): Show TGTTTTCAGTATATCTTGAGACTATAAACC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0119 a0003c0008t0001g0119	1	258	0.0039	29	c.-12 others(50): Show c.-126+12884_-126+12912dupGTTTTCAGTATATCTTGAGACTAT AAACC	TANC1	ENSG00000115183.15	transcript	ENST00000263635.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
TANC2_chr17_62961235_63432703	63055988	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	266	0.0038	29	c.68- others(46): Show c.68-17955_68-17954insTATATATATATATATATATATATATATA T	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27			chr17	TogoVar
TANGO2_chr22_20016110_20072164	20065040	T T	TACATGCA others(22): Show TACATGCACAGGTGTGCTACACATGTGCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0211 a0001c0001t0030g0211	1	392	0.0026	29	c.38 others(38): Show c.380_*381insATGCACAGGTGTGCTACACATGTGCACAC	TANGO2	ENSG00000183597.16	transcript	ENST00000327374.9	protein_coding	9/9	381	INFO_REALIGN_3_PRIME	chr22	TogoVar
TAOK1_chr17_29385363_29556903	29397672	T T	TATACATG others(22): Show TATACATGTATACATGTATATTCATGTATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp2 HG02615.hp2 others(5): Show HG01884.hp2 HG01934.hp2 HG02615.hp2 HG02922.hp2 HG02976.hp1 HG03516.hp2 NA19030.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0015 a0001c0001t0026 a0001c0001t0035 others(2): Show a0001c0001t0015 a0001c0001t0026 a0001c0001t0035 a0001c0001t0037 a0003c0008t0015	a0001c0001t0015g0080 a0001c0001t0015g0082 a0001c0001t0015g0083 others(5): Show a0001c0001t0015g0080 a0001c0001t0015g0082 a0001c0001t0015g0083 a0001c0001t0026g0081 a0001c0001t0026g0084 a0001c0001t0035g0269 a0001c0001t0037g0248 a0003c0008t0015g0247	8	326	0.0245	29	c.-95 others(46): Show c.-95+6649_-95+6677dupATACATGTATACATGTATATTCATGTAT G	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK1_chr17_29385363_29556903	29397684	C C	CATGTATA others(22): Show CATGTATATTCATGTATGATACATGTATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01109.hp1 others(12): Show HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01192.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0010 a0001c0001t0018 a0001c0001t0043 others(6): Show a0001c0001t0010 a0001c0001t0018 a0001c0001t0043 a0001c0001t0044 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0065 a0001c0011t0007	a0001c0001t0010g0060 a0001c0001t0010g0061 a0001c0001t0010g0062 others(12): Show a0001c0001t0010g0060 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0063 a0001c0001t0010g0086 a0001c0001t0010g0090 a0001c0001t0018g0087 a0001c0001t0018g0092 a0001c0001t0043g0085 a0001c0001t0044g0056 a0001c0001t0056g0093 a0001c0001t0057g0057 a0001c0001t0058g0059 a0001c0001t0065g0058 a0001c0011t0007g0006	15	326	0.0460	29	c.-95 others(46): Show c.-95+6677_-95+6678insATACATGTATATATGTATATTCATGTAT G	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK1_chr17_29385363_29556903	29468135	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG01517.hp1 others(10): Show HG01192.hp1 HG01261.hp1 HG01517.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG03540.hp2 HG03710.hp1 HG04228.hp1 NA18979.hp2 NA19002.hp1 NA19012.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0047 a0001c0001t0056	a0001c0001t0001g0133 a0001c0001t0003g0132 a0001c0001t0003g0136 others(10): Show a0001c0001t0001g0133 a0001c0001t0003g0132 a0001c0001t0003g0136 a0001c0001t0003g0214 a0001c0001t0006g0283 a0001c0001t0007g0295 a0001c0001t0010g0060 a0001c0001t0010g0061 a0001c0001t0010g0088 a0001c0001t0010g0090 a0001c0001t0011g0242 a0001c0001t0047g0166 a0001c0001t0056g0093	13	326	0.0399	29	c.204 others(44): Show c.204+936_204+937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234451748	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19007.hp1 NA20805.hp1 NA18964.hp1 NA19007.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0015 a0005c0005 a0001c0001 a0001c0015 a0005c0005	a0001c0001t0001 a0001c0015t0001 a0005c0005t0001 a0001c0001t0001 a0001c0015t0001 a0005c0005t0001	a0001c0001t0001g0075 a0001c0015t0001g0060 a0005c0005t0001g0201 a0001c0001t0001g0075 a0001c0015t0001g0060 a0005c0005t0001g0201	3	274	0.0110	29	c.172 others(48): Show c.1723-1183_1723-1182insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	9/29			chr1	TogoVar
TARM1_chr19_54064895_54086365	54080124	G G	GAAGAAAA others(22): Show GAAGAAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	409	0.0024	29	c.34+ others(44): Show c.34+1182_34+1183insTCTTTCTTTCTTTCTTTCTTTCTTTTCTT	TARM1	ENSG00000248385.8	transcript	ENST00000432826.2	protein_coding	1/4			chr19	TogoVar
TAS2R13_chr12_10902926_10914562	10903931	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG03669.hp1 NA18960.hp2 HG00099.hp2 HG03669.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	407	0.0074	29	c.44 others(40): Show c.4455_*4456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TAS2R13	ENSG00000212128.2	transcript	ENST00000390677.2	protein_coding		3994		chr12	TogoVar
TAS2R1_chr5_9622347_9635351	9633285	G G	GTATATAT others(22): Show GTATATATTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02735.hp2 NA18957.hp2 others(5): Show HG02056.hp1 HG02735.hp2 NA18957.hp2 NA18974.hp1 NA18983.hp1 NA18985.hp1 NA19076.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0003 a0002c0002t0006 others(1): Show a0001c0001t0008 a0002c0002t0003 a0002c0002t0006 a0002c0002t0038	a0001c0001t0008g0000 a0002c0002t0003g0000 a0002c0002t0006g0000 others(1): Show a0001c0001t0008g0000 a0002c0002t0003g0000 a0002c0002t0006g0000 a0002c0002t0038g0000	8	458	0.0175	29	c.-32 others(40): Show c.-3254_-3253insTATATATATATATATATATATAATATATA	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2935		chr5	TogoVar

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