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
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02698.hp2 HG02970.hp2 HG00609.hp2 HG02698.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0267 a0001c0003t0001g0064 a0001c0001t0001g0017 a0001c0001t0001g0267 a0001c0003t0001g0064	3	284	0.0106	36	c.222 others(55): Show c.2222-2226_2222-2225insTCTTCCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20300.hp2 HG03195.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0172 a0001c0003t0001g0068 a0001c0003t0001g0172	2	284	0.0070	36	c.222 others(55): Show c.2222-2226_2222-2225insTCTTTCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS45_chr1_150062776_150150329	150076077	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0012 a0002c0002t0002g0013	2	176	0.0114	36	c.290 others(51): Show c.290-149_290-148insTATATATATATATATATATATATATATAAA TATATA	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18940.hp1 NA19080.hp1 HG03831.hp2 NA18940.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0022 a0003c0004t0056 a0003c0004t0060 a0001c0002t0022 a0003c0004t0056 a0003c0004t0060	a0001c0002t0022g0085 a0003c0004t0056g0020 a0003c0004t0060g0039 a0001c0002t0022g0085 a0003c0004t0056g0020 a0003c0004t0060g0039	3	232	0.0129	36	c.186 others(55): Show c.1867-6638_1867-6637insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18961.hp2 NA19087.hp2 NA18944.hp2 NA18961.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0100 a0003c0004t0022 a0003c0004t0054 a0001c0002t0100 a0003c0004t0022 a0003c0004t0054	a0001c0002t0100g0223 a0003c0004t0022g0004 a0003c0004t0054g0032 a0001c0002t0100g0223 a0003c0004t0022g0004 a0003c0004t0054g0032	3	232	0.0129	36	c.186 others(55): Show c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	662751	G G	GACAAAGA others(29): Show GACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0093 a0001c0002t0065g0093	1	232	0.0043	36	c.286 others(51): Show c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	662751	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0036 a0004c0008t0036	a0004c0008t0036g0207 a0004c0008t0036g0207	1	232	0.0043	36	c.286 others(51): Show c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGAGAA others(29): Show AAAGAGAAAGAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19087.hp1 HG02602.hp1 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0020 a0001c0005t0019 a0001c0005t0020	a0001c0005t0019g0007 a0001c0005t0020g0005 a0001c0005t0019g0007 a0001c0005t0020g0005	2	232	0.0086	36	c.286 others(51): Show c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTTCTTTCTCTT TCTCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGAGAA others(29): Show AAAGAGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18612.hp1 HG01981.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0090 a0002c0003t0150 a0002c0003t0090 a0002c0003t0150	a0002c0003t0090g0171 a0002c0003t0150g0191 a0002c0003t0090g0171 a0002c0003t0150g0191	2	232	0.0086	36	c.286 others(51): Show c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTCCTTTCTCTT TCTCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63938059	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	304	0.0033	36	c.139 others(55): Show c.1399-4047_1399-4046insACACACACACACACACACACACACAC ACACACACAC	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	11/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	274	0.0037	36	c.536 others(53): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01169.hp2 others(12): Show HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01952.hp1 HG02015.hp2 HG02109.hp2 HG03239.hp1 HG03239.hp2 NA18941.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18979.hp1 NA18986.hp1 NA18989.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0006 a0008c0014 a0001c0001 a0004c0006 a0008c0014	a0001c0001t0002 a0004c0006t0003 a0008c0014t0002 a0001c0001t0002 a0004c0006t0003 a0008c0014t0002	a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0122 others(12): Show a0001c0001t0002g0099 a0001c0001t0002g0112 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0162 a0001c0001t0002g0188 a0001c0001t0002g0200 a0004c0006t0003g0046 a0008c0014t0002g0126 a0008c0014t0002g0195	15	274	0.0547	36	c.358 others(55): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAAAAAAAA ACTCACCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VRK1_chr14_96792382_96886609	96808002	C C	CCTCTCTC others(29): Show CCTCTCTCCGTCTCTCTCCCTCTCTCCCTCTCTCCGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03540.hp2 HG02602.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0086 a0001c0002t0001g0090	2	278	0.0072	36	c.-6+ others(53): Show c.-6+10562_-6+10563insCGTCTCTCTCCCTCTCTCCCTCTCTCCG TCTCTCTC	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19063.hp1 NA20129.hp2 NA18940.hp1 NA19063.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0004g0001 a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0004g0001	3	428	0.0070	36	c.-44 others(47): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VSIG10_chr12_118058593_118109011	118098228	T T	TGCCTCTC others(29): Show TGCCTCTCCCTCTCTCTCCGCCTCTCCCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18957.hp1 HG03490.hp2 HG03492.hp1 NA18957.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0003 a0003c0005t0002 a0001c0004t0003 a0003c0005t0002	a0001c0004t0003g0174 a0003c0005t0002g0004 a0001c0004t0003g0174 a0003c0005t0002g0004	3	412	0.0073	36	c.80- others(51): Show c.80-2450_80-2415dupGGAGAGAGAGGGAGAGGCGGAGAGAGAGGG AGAGGC	VSIG10	ENSG00000176834.14	transcript	ENST00000359236.10	protein_coding	1/8			chr12	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(29): Show CACACACACACACACACATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0092 a0001c0004t0092	a0001c0004t0092g0242 a0001c0004t0092g0242	1	462	0.0022	36	c.568 others(53): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTATATGTGTGTGT GTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSTM2B_chr19_29520994_29569551	29537703	A A	ACACCCAC others(29): Show ACACCCACCTACTCTCCCGCACCCACCTACTCTCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02258.hp2 others(15): Show HG00639.hp2 HG01243.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03579.hp1 HG04228.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0068 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0213 a0001c0001t0001g0253 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0354 a0001c0003t0001g0013 a0001c0004t0001g0030	18	406	0.0443	36	c.769 others(53): Show c.769+7438_769+7473dupCCTACTCTCCCGCACCCACCTACTCTCC CGCACCCA	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
VSTM2B_chr19_29520994_29569551	29537751	T T	TCTCCCGC others(29): Show TCTCCCGCACCCACCTACTCTCCCGCACCCACCTACC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01258.hp2 others(11): Show HG00741.hp2 HG01256.hp1 HG01258.hp2 HG01884.hp2 HG02109.hp2 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03239.hp1 HG03490.hp2 HG04228.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0011 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0011g0297 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0005t0001g0015	14	406	0.0345	36	c.769 others(53): Show c.769+7473_769+7474insCCTACTCTCCCGCACCCACCTACCCTCC CGCACCCA	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
VSX2_chr14_74234449_74267738	74244901	T T	TGTGTGTG others(29): Show TGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG02040.hp1 HG00741.hp2 HG01106.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0231 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0231	3	422	0.0071	36	c.456 others(51): Show c.456-255_456-254insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244901	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	422	0.0024	36	c.456 others(51): Show c.456-251_456-250insAAAGAGAGAGAGAAAGAGAGAAAGTGTGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244903	T T	TGTGTGTG others(29): Show TGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00738.hp2 others(10): Show HG00140.hp1 HG00639.hp2 HG00738.hp2 HG01261.hp1 HG01515.hp1 HG03490.hp2 HG03492.hp1 HG04228.hp2 NA19056.hp2 NA19080.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0033 others(6): Show a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0033 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0245	13	422	0.0308	36	c.456 others(51): Show c.456-253_456-252insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244957	T T	TGTGTGTG others(29): Show TGTGTGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG02109.hp1 others(8): Show HG01175.hp2 HG01496.hp1 HG02109.hp1 HG02145.hp1 HG03209.hp2 NA18949.hp1 NA18961.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(8): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0175 a0002c0003t0001g0147	11	422	0.0261	36	c.456 others(51): Show c.456-199_456-198insAGAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244959	T T	TGTGTGTG others(29): Show TGTGTGTGTGAGAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02257.hp2 others(4): Show HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp1 HG02723.hp2 HG04204.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0037 a0001c0001t0001g0166 a0001c0001t0001g0232 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0166 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0017g0235	7	422	0.0166	36	c.456 others(51): Show c.456-197_456-196insAGAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTCN1_chr1_117138587_117215927	117157092	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	248	0.0040	36	c.98- others(49): Show c.98-172_98-171insATATATATATATATATATATATATATATATAT ATAT	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	2/5			chr1	TogoVar
VTCN1_chr1_117138587_117215927	117205009	T T	TACGCATA others(29): Show TACGCATATATACACATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02976.hp1 others(1): Show HG02258.hp1 HG02647.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0017 a0001c0001t0003g0018 a0001c0001t0005g0016 others(1): Show a0001c0001t0001g0017 a0001c0001t0003g0018 a0001c0001t0005g0016 a0001c0001t0011g0015	4	248	0.0161	36	c.32+ others(51): Show c.32+5814_32+5815insGTATATATATATGTATATATATGTGTATAT ATGCGT	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	1/5			chr1	TogoVar
VTI1A_chr10_112442215_112823744	112455161	T T	TCCTCCCC others(29): Show TCCTCCCCTCCTCTCTCCCCCTCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	168	0.0060	36	c.95- others(51): Show c.95-5351_95-5350insTCTCCCCCTCCTCCCCTCCCCTCCCCTCCC CTCCTC	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATAGAGA others(29): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	168	0.0060	36	c.428 others(55): Show c.428-49693_428-49692insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA3A_chr16_22087541_22161964	22115832	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02896.hp1 NA20129.hp1 HG00140.hp2 HG02896.hp1 NA20129.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0015 a0004c0004 a0003c0003 a0003c0015 a0004c0004	a0003c0003t0001 a0003c0015t0001 a0004c0004t0001 a0003c0003t0001 a0003c0015t0001 a0004c0004t0001	a0003c0003t0001g0110 a0003c0015t0001g0178 a0004c0004t0001g0093 a0003c0003t0001g0110 a0003c0015t0001g0178 a0004c0004t0001g0093	3	294	0.0102	36	c.815 others(51): Show c.815+417_815+452dupGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	VWA3A	ENSG00000175267.15	transcript	ENST00000389398.10	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
VWA8_chr13_41561835_41966109	41573618	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0214 a0004c0006t0009g0214	1	250	0.0040	36	c.537 others(55): Show c.5370+2121_5370+2122insCCATATATATATATATATATATATAT ATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWC2L_chr2_214406054_214583976	214433159	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	282	0.0036	36	c.391 others(53): Show c.391-3446_391-3445insATATATATATATATATATATATATATAT ATATATAT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAATA others(29): Show AAAAAATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01255.hp2 HG01517.hp2 others(3): Show HG00609.hp1 HG01255.hp2 HG01517.hp2 HG03669.hp2 HG03927.hp1 NA18946.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0189 others(3): Show a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0189 a0001c0001t0002g0201 a0002c0002t0002g0065 a0002c0002t0002g0078	6	256	0.0234	36	c.827 others(55): Show c.827-34552_827-34551insAAAATATACATATATATATATATATA TATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWF_chr12_5943877_6129670	6092606	T T	TTAGTTAG others(29): Show TTAGTTAGTGAGTGAGTGAGTGAGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0013 a0013	a0013c0068 a0013c0068	a0013c0068t0001 a0013c0068t0001	a0013c0068t0001g0200 a0013c0068t0001g0200	1	288	0.0035	36	c.657 others(53): Show c.657+2853_657+2854insTCTCTCTCTCTCACTCACTCACTCACTC ACTAACTA	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092610	T T	TGAGAGTG others(29): Show TGAGAGTGAGAGTGAGAGTGAGAGTGAGAGTGAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0020 a0020	a0020c0015 a0020c0015	a0020c0015t0001 a0020c0015t0001	a0020c0015t0001g0244 a0020c0015t0001g0244	1	288	0.0035	36	c.657 others(53): Show c.657+2849_657+2850insTCTCTCACTCTCACTCTCACTCTCACTC TCACTCTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092616	A A	AGTGAGTG others(29): Show AGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0021 a0021	a0021c0169 a0021c0169	a0021c0169t0001 a0021c0169t0001	a0021c0169t0001g0036 a0021c0169t0001g0036	1	288	0.0035	36	c.657 others(53): Show c.657+2843_657+2844insACTCTCTCTCTCTCTCTCTCTCTCTCTC TCACTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092616	A A	AGTGAGTG others(29): Show AGTGAGTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03130.hp2 HG01358.hp1 HG03130.hp2	a0027 a0075 a0027 a0075	a0027c0160 a0075c0153 a0027c0160 a0075c0153	a0027c0160t0001 a0075c0153t0001 a0027c0160t0001 a0075c0153t0001	a0027c0160t0001g0082 a0075c0153t0001g0155 a0027c0160t0001g0082 a0075c0153t0001g0155	2	288	0.0069	36	c.657 others(53): Show c.657+2843_657+2844insACTCTCTCTCTCTCTCTCTCTCACTCAC TCACTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(29): Show AGTGAGAGTGAGAGAGAGAGAGTGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0041 a0041	a0041c0081 a0041c0081	a0041c0081t0001 a0041c0081t0001	a0041c0081t0001g0037 a0041c0081t0001g0037	1	288	0.0035	36	c.657 others(53): Show c.657+2841_657+2842insACACACACACACTCACTCTCTCTCTCTC ACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(29): Show AGTGAGAGTGAGAGTGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0042 a0042	a0042c0059 a0042c0059	a0042c0059t0001 a0042c0059t0001	a0042c0059t0001g0129 a0042c0059t0001g0129	1	288	0.0035	36	c.657 others(53): Show c.657+2841_657+2842insACACTCTCTCTCTCTCTCTCTCACTCTC ACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092620	T T	TGAGAGTG others(29): Show TGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0013 a0013	a0013c0060 a0013c0060	a0013c0060t0001 a0013c0060t0001	a0013c0060t0001g0019 a0013c0060t0001g0019	1	288	0.0035	36	c.657 others(53): Show c.657+2839_657+2840insTCTCTCTCTCTCTCTCTCACTCTCACTC TCACTCTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092624	T T	TGAGTGAG others(29): Show TGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0057 a0057	a0057c0051 a0057c0051	a0057c0051t0001 a0057c0051t0001	a0057c0051t0001g0043 a0057c0051t0001g0043	1	288	0.0035	36	c.657 others(53): Show c.657+2835_657+2836insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCACTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
WASF1_chr6_110094819_110184670	110124224	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	262	0.0038	36	c.133 others(53): Show c.133+3244_133+3245insAGGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(29): Show CTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	262	0.0038	36	c.133 others(53): Show c.133+3194_133+3195insTATATATATATATATATATATATATATA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	262	0.0038	36	c.133 others(53): Show c.133+3194_133+3195insTATATATATATATATATATATAGAGAGA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	262	0.0038	36	c.133 others(53): Show c.133+3194_133+3195insTATATATATATATATATATAGAGAGAGA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	262	0.0038	36	c.133 others(53): Show c.133+3194_133+3195insTATATATATATATATATAGAGAGAGAGA GAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF3_chr13_26552683_26693948	26578993	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02083.hp1 NA19064.hp2 HG00099.hp2 HG02083.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0037 a0001c0001t0002g0074 a0001c0001t0002g0075	3	294	0.0102	36	c.-10 others(57): Show c.-109+21197_-109+21198insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WASHC2C_chr10_45722266_45797964	45784293	C C	CACACACA others(29): Show CACACACATATATATATATATATATACACACACATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0357 a0004c0004t0002g0357	1	380	0.0026	36	c.247 others(53): Show c.2479-271_2479-270insCACACATATATATATATATATATACACA CACATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45784293	C C	CACACATA others(29): Show CACACATATATATATATATATATATACACACACATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG01928.hp2 others(10): Show HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02735.hp1 NA18950.hp2 NA20752.hp1	a0004 a0024 a0004 a0024	a0004c0004 a0024c0029 a0004c0004 a0024c0029	a0004c0004t0002 a0024c0029t0009 a0004c0004t0002 a0024c0029t0009	a0004c0004t0002g0338 a0004c0004t0002g0343 a0004c0004t0002g0344 others(10): Show a0004c0004t0002g0338 a0004c0004t0002g0343 a0004c0004t0002g0344 a0004c0004t0002g0347 a0004c0004t0002g0348 a0004c0004t0002g0350 a0004c0004t0002g0351 a0004c0004t0002g0353 a0004c0004t0002g0355 a0004c0004t0002g0358 a0004c0004t0002g0359 a0004c0004t0002g0364 a0024c0029t0009g0114	13	380	0.0342	36	c.247 others(53): Show c.2479-271_2479-270insCACATATATATATATATATATATACACA CACATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45784293	C C	CACATATA others(29): Show CACATATATATATATATATATATACACACACATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0002 a0004c0022t0002	a0004c0022t0002g0341 a0004c0022t0002g0341	1	380	0.0026	36	c.247 others(53): Show c.2479-271_2479-270insCATATATATATATATATATATACACACA CATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASL_chr7_123676943_123754003	123735019	C C	CAGTCCTT others(29): Show CAGTCCTTCAAATATAAATATAAACAAACAACCAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	356	0.0028	36	c.117 others(55): Show c.117+13563_117+13598dupTCTTGGTTGTTTGTTTATATTTATAT TTGAAGGACT	WASL	ENSG00000106299.8	transcript	ENST00000223023.5	protein_coding	1/10			chr7	TogoVar
WBP2NL_chr22_41993788_42033475	42008088	C C	CTTTCCTT others(29): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	388	0.0026	36	c.62+ others(51): Show c.62+9210_62+9211insTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 8848 hits)