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
TASP1_chr20_13384394_13643932	13531284	G G	GGGATTAG others(20): Show GGGATTAGAATAGAGGTTTACCTAGATC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02148.hp1 NA18957.hp1 others(1): Show HG01952.hp1 HG02148.hp1 NA18957.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0216 a0001c0001t0001g0221 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0230	4	290	0.0138	27	c.795 others(44): Show c.795+2711_795+2737dupGATCTAGGTAAACCTCTATTCTAATCC	TASP1	ENSG00000089123.16	transcript	ENST00000337743.9	protein_coding	9/13			chr20	TogoVar
TATDN1_chr8_124483498_124544085	124534145	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	338	0.0030	27	c.22+ others(42): Show c.22+4853_22+4879dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	TATDN1	ENSG00000147687.19	transcript	ENST00000276692.11	protein_coding	1/11			chr8	TogoVar
TATDN2_chr3_10243459_10286218	10265019	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTCCTGTGCGTGGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02055.hp2 NA19043.hp2 HG01069.hp2 HG02055.hp2 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0134 a0001c0011t0001g0151 a0001c0011t0001g0232 a0001c0011t0001g0134 a0001c0011t0001g0151 a0001c0011t0001g0232	3	366	0.0082	27	c.948 others(44): Show c.948+4363_948+4364insTCCTGTGCGTGGTTTTTTTTTTTTTTT	TATDN2	ENSG00000157014.11	transcript	ENST00000448281.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02148.hp2 HG01255.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0009 a0001c0003t0004g0009	2	372	0.0054	27	c.-20 others(38): Show c.-2089_-2088insATATATATATATATATATATTTTTTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	27	c.-20 others(38): Show c.-2089_-2088insATACATATATATATATATATATATTTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	27	c.-20 others(38): Show c.-2089_-2088insATATATATATATATATATATATATATA	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TBC1D16_chr17_79927343_80040872	80006226	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0140 a0001c0026t0140	a0001c0026t0140g0228 a0001c0026t0140g0228	1	334	0.0030	27	c.779 others(44): Show c.779+3933_779+3934insGAGAGAGAGAGAGAGAGAGAGAGAGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	3/11			chr17	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTCCTTC others(20): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp2 HG02451.hp2 others(9): Show HG01256.hp2 HG02109.hp2 HG02451.hp2 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG04115.hp2 NA18944.hp2 NA18986.hp1 NA19003.hp2 NA19070.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0273 others(9): Show a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296	12	310	0.0387	27	c.481 others(44): Show c.481-2608_481-2607insCCTTCTCCTTCTCCTTCTCCTTCTCCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(20): Show TCTTCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0226 a0001c0002t0002g0226	1	310	0.0032	27	c.481 others(44): Show c.481-2605_481-2604insTCTCCTTCTCCTTCTCCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(20): Show TCTTCTTCTTCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	310	0.0032	27	c.481 others(44): Show c.481-2605_481-2604insTCTTCTTCTCCTTCTCCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(20): Show TCTTCTTCTTCTTCTTCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp2 NA19240.hp1 HG02976.hp2 HG03098.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0183	3	310	0.0097	27	c.481 others(44): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTCCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26656987	T T	TCTTCTTC others(20): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	310	0.0032	27	c.481 others(44): Show c.481-2605_481-2604insTCTTCTTCTTCTTCTTCTTCTCCTTCT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D20_chr20_430480_467533	466018	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	2	402	0.0050	27	c.-36 others(38): Show c.-3614_-3613insTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding		3486		chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	47128081	T T	TCATCCTC others(20): Show TCATCCTCCCTCCACCCCACACATCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02896.hp1 others(2): Show HG02258.hp2 HG02615.hp1 HG02896.hp1 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0010 a0001c0002t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0005	a0001c0001t0008g0036 a0001c0001t0008g0100 a0001c0001t0010g0013 others(2): Show a0001c0001t0008g0036 a0001c0001t0008g0100 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0002t0005g0011	5	112	0.0446	27	c.142 others(48): Show c.1425+16498_1425+16524dupACATCCCCCATCCTCCCTCCACCC CAC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128215	C C	CCCCTTCC others(20): Show CCCCTTCCCTCACCCATCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	112	0.0089	27	c.142 others(48): Show c.1425+16615_1425+16616insTTCCCTCACCCATCCCTCCCTCCG CCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176570	T T	TGCCCCTG others(20): Show TGCCCCTGTCCCCACGGGTGTGGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0100 a0001c0001t0008g0036 a0001c0001t0008g0100	2	112	0.0179	27	c.29 others(38): Show c.2944_*2945insGCCCCTGTCCCCACGGGTGTGGGGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding		878		chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176570	T T	TGCCCCTG others(20): Show TGCCCCTGTCCCCGCGGGTGTGGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	112	0.0089	27	c.29 others(38): Show c.2944_*2945insGCCCCTGTCCCCGCGGGTGTGGGGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding		878		chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176570	T T	TGCTCCTG others(20): Show TGCTCCTGTCCCCACGGGTGTGGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0109 a0001c0001t0019g0109	1	112	0.0089	27	c.29 others(38): Show c.2944_*2945insGCTCCTGTCCCCACGGGTGTGGGGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding		878		chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47176660	C C	CCGGCTGT others(20): Show CCGGCTGTGGGGTGTGCTCCAGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	112	0.0089	27	c.30 others(38): Show c.3034_*3035insCGGCTGTGGGGTGTGCTCCAGTCCCCA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding		968		chr22	TogoVar
TBC1D22B_chr6_37252772_37337970	37285315	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02897.hp2 HG02922.hp1 HG02559.hp2 HG02897.hp2 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0051 a0001c0004t0002g0053 a0001c0004t0002g0059 a0001c0004t0002g0051 a0001c0004t0002g0053 a0001c0004t0002g0059	3	222	0.0135	27	c.801 others(42): Show c.801+852_801+878dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D22B	ENSG00000065491.8	transcript	ENST00000373491.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	464	0.0022	27	c.31 others(38): Show c.3182_*3183insAAAAAAAAAAAAAATATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992850	T T	TCCCCCCC others(20): Show TCCCCCCCCACTCCCCCCCCCCACTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0079 a0001c0002t0003g0079	1	280	0.0036	27	c.53 others(38): Show c.5309_*5310insGGGAGTGGGGGGGGGGAGTGGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2134		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992862	C C	CCCCCCCA others(20): Show CCCCCCCACTCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG03491.hp1 HG03492.hp1 HG01069.hp2 HG03491.hp1 HG03492.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0001 a0003c0004t0005g0074 a0003c0004t0005g0075 a0003c0004t0005g0001 a0003c0004t0005g0074 a0003c0004t0005g0075	3	280	0.0107	27	c.52 others(38): Show c.5271_*5297dupAGTGGGGGGAGTGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2122		chr15	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01168.hp1 others(16): Show HG00323.hp2 HG00408.hp2 HG01168.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02074.hp2 HG02132.hp1 HG02523.hp2 HG02698.hp2 NA18963.hp1 NA18965.hp1 NA18982.hp1 NA19056.hp1 NA19070.hp2 NA19078.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0048 a0001c0001t0001g0203 a0001c0001t0001g0205 others(12): Show a0001c0001t0001g0048 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0003g0013 a0001c0001t0003g0063 a0001c0001t0003g0069 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0004g0270 a0001c0001t0004g0273 a0001c0001t0004g0278 a0001c0001t0004g0282 a0001c0001t0011g0052	19	440	0.0432	27	c.520 others(44): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0304 a0002c0002t0002g0304	1	332	0.0030	27	c.403 others(42): Show c.403-337_403-336insAAAAAAAAAAAAAAAAAAAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101095249	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18960.hp1 HG02280.hp1 NA18960.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0133 a0004c0005t0001g0284 a0001c0001t0001g0133 a0004c0005t0001g0284	2	332	0.0060	27	c.128 others(44): Show c.128-4886_128-4885insTAATAATAATAATAATAATAATAATAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	1/19			chr2	TogoVar
TBCD_chr17_82747065_82950914	82855993	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0002 a0016c0019t0002	a0016c0019t0002g0169 a0016c0019t0002g0169	1	318	0.0031	27	c.131 others(48): Show c.1319-14206_1319-14205insTTTTTTTTTTTTTTTTTTTTTTTT TTT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBKBP1_chr17_47689161_47717052	47700289	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	386	0.0026	27	c.872 others(42): Show c.872+593_872+619dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBKBP1	ENSG00000198933.11	transcript	ENST00000578982.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177055542	C C	CGGGGGGC others(20): Show CGGGGGGCGGGGCGGGGGTGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	306	0.0033	27	c.59- others(42): Show c.59-1625_59-1624insACCCCCCCCACCCCCGCCCCGCCCCCC	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	3/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177055560	T T	TGGGGGGG others(20): Show TGGGGGGGGTGGGGGCGGGGCGGGGGTG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0246 a0001c0001t0007g0246	1	306	0.0033	27	c.59- others(42): Show c.59-1643_59-1642insCACCCCCGCCCCGCCCCCACCCCCCCC	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	3/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177069793	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02074.hp2 HG02129.hp2 others(1): Show HG01978.hp2 HG02074.hp2 HG02129.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0216 a0001c0001t0003g0236 a0001c0001t0003g0242 others(1): Show a0001c0001t0003g0216 a0001c0001t0003g0236 a0001c0001t0003g0242 a0001c0001t0022g0229	4	306	0.0131	27	c.-45 others(44): Show c.-45-4772_-45-4771insCCTTCCTTCCTTCCTTCCTTCCTTCCT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	2/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp2 HG02015.hp1 HG01257.hp2 HG01361.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0227 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0227	3	306	0.0098	27	c.-12 others(48): Show c.-121-13567_-121-13566insAAAAAAATATATATATATATATAT ATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG03490.hp2 others(1): Show HG01515.hp2 HG01517.hp1 HG03490.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0047 a0001c0001t0002g0174 others(1): Show a0001c0001t0001g0201 a0001c0001t0002g0047 a0001c0001t0002g0174 a0001c0001t0002g0175	4	306	0.0131	27	c.-12 others(48): Show c.-121-13567_-121-13566insAAAAAAAAATATATATATATATAT ATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	306	0.0033	27	c.-12 others(48): Show c.-121-13567_-121-13566insAAAAAAAAAAATATATATATATAT ATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112108	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19074.hp1 NA19068.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0268 a0001c0001t0004g0298 a0001c0001t0004g0268 a0001c0001t0004g0298	2	306	0.0065	27	c.-12 others(48): Show c.-121-13568_-121-13567insTATATATATATATATATATATATA TAT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBX18_chr6_84727496_84769598	84731160	T T	TTACTACT others(20): Show TTACTACTACTACTACTACTACTACTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0038 a0001c0001t0014g0038	1	404	0.0025	27	c.54 others(38): Show c.5498_*5524dupGTAGTAGTAGTAGTAGTAGTAGTAGTA	TBX18	ENSG00000112837.17	transcript	ENST00000369663.10	protein_coding		1335		chr6	TogoVar
TBX21_chr17_47728236_47751122	47747834	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01433.hp1 HG01891.hp2 others(6): Show HG00642.hp2 HG01433.hp1 HG01891.hp2 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG03654.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0012 a0001c0001t0001 a0001c0002t0003 a0001c0002t0012	a0001c0001t0001g0018 a0001c0002t0003g0052 a0001c0002t0003g0053 others(5): Show a0001c0001t0001g0018 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0116 a0001c0002t0003g0165 a0001c0002t0003g0170 a0001c0002t0003g0173 a0001c0002t0012g0166	9	394	0.0228	27	c.24 others(38): Show c.2468_*2469insTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBX21	ENSG00000073861.3	transcript	ENST00000177694.2	protein_coding		1713		chr17	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19067.hp2 NA19072.hp2 NA18988.hp1 NA19067.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	3	438	0.0069	27	c.664 others(40): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGAGAGAGAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0148 a0002c0004t0005g0148	1	438	0.0023	27	c.664 others(40): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGGGAGAGAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBXAS1_chr7_139824264_140025293	139984775	A A	AAGAAAAG others(20): Show AAGAAAAGAAAGAAAGAAAGCAGGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	270	0.0037	27	c.113 others(48): Show c.1135-22316_1135-22315insAGAAAAGAAAGAAAGAAAGCAGGA AAG	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12			chr7	TogoVar
TCERG1_chr5_146442333_146516961	146472727	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	320	0.0031	27	c.160 others(46): Show c.1601+1152_1601+1153insGTGTGTGTGTGTGTGTGTGTGTGTGT T	TCERG1	ENSG00000113649.14	transcript	ENST00000679501.2	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
TCF12_chr15_56913644_57294853	56984001	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0226 a0001c0001t0009g0226	1	330	0.0030	27	c.148 others(46): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAAA A	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	56984014	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG01934.hp1 others(5): Show HG00735.hp1 HG01123.hp1 HG01934.hp1 HG01975.hp2 NA18942.hp1 NA19043.hp2 NA19057.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0002c0006t0004 a0001c0001t0001 a0001c0002t0001 a0002c0006t0004	a0001c0001t0001g0040 a0001c0001t0001g0093 a0001c0001t0001g0098 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0002t0001g0323 a0002c0006t0004g0305	8	330	0.0242	27	c.148 others(46): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAGA A	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57064795	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01993.hp2 HG01346.hp1 HG01993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0010 a0002c0003t0004 a0002c0003t0010	a0002c0003t0004g0281 a0002c0003t0010g0283 a0002c0003t0004g0281 a0002c0003t0010g0283	2	330	0.0061	27	c.222 others(42): Show c.222+990_222+991insAAAAAAAAAAAAAAAAAAAAAAAAAAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57264195	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02132.hp1 HG03239.hp1 HG01192.hp1 HG02132.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0002g0071 a0001c0002t0001g0314 a0001c0001t0001g0058 a0001c0001t0002g0071 a0001c0002t0001g0314	3	330	0.0091	27	c.174 others(44): Show c.1745+944_1745+945insTTTTTTTTTTTTTTTTTTTTTTTTTTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57275327	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	330	0.0030	27	c.197 others(46): Show c.1978+2065_1978+2066insTGTGTGTGTGTGTGTGTGTGTGTGTG T	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	19/20			chr15	TogoVar
TCF20_chr22_42155013_42275653	42216079	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0121 a0003c0004t0003g0121	1	355	0.0028	27	c.-36 others(42): Show c.-36-765_-36-739dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF20_chr22_42155013_42275653	42219355	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01928.hp1 HG02698.hp1 others(7): Show HG00673.hp2 HG01928.hp1 HG02698.hp1 NA18965.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA19000.hp1 NA19088.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0004 a0001c0001 a0001c0017 a0003c0004	a0001c0001t0001 a0001c0001t0019 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0017t0001 a0003c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0130 a0001c0001t0001g0175 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0130 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0019g0187 a0001c0017t0001g0150 a0003c0004t0001g0351	10	355	0.0282	27	c.-36 others(44): Show c.-36-4015_-36-4014insTTTTTTTTTTTTTTTTTTTTTTTTTTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF20_chr22_42155013_42275653	42242227	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03834.hp2 NA20805.hp2 HG01071.hp1 HG03834.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0024 a0002c0003t0001g0029 a0002c0003t0001g0035 a0002c0003t0001g0024 a0002c0003t0001g0029 a0002c0003t0001g0035	3	355	0.0085	27	c.-36 others(46): Show c.-36-26887_-36-26886insATTTTTTTTTTTTTTTTTTTTTTTTT T	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF25_chr16_89868592_89916379	89869045	A A	ACATATAT others(20): Show ACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	300	0.0033	27	c.-46 others(38): Show c.-4623_-4622insCATATATATATATATATATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4546		chr16	TogoVar

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