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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
APBB2_chr4_40805027_41219542	40964753	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG01261.hp1 others(5): Show HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp2 HG01981.hp2 HG03486.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0009 a0001c0003t0014 others(4): Show a0001c0003t0001 a0001c0003t0009 a0001c0003t0014 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0010	a0001c0003t0001g0038 a0001c0003t0009g0162 a0001c0003t0014g0068 others(5): Show a0001c0003t0001g0038 a0001c0003t0009g0162 a0001c0003t0014g0068 a0002c0001t0003g0048 a0002c0001t0004g0102 a0002c0001t0004g0132 a0002c0001t0007g0087 a0002c0001t0010g0025	8	192	0.0417	18	c.836 others(37): Show c.836-19698_836-19681dupGTGTGTGTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40975753	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0079 a0002c0001t0008g0079	1	192	0.0052	18	c.836 others(37): Show c.836-30698_836-30681dupGTGTGTGTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41000105	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18522.hp2 NA18983.hp1 HG02004.hp1 NA18522.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0049 a0002c0001t0029 a0001c0002t0001 a0001c0002t0049 a0002c0001t0029	a0001c0002t0001g0060 a0001c0002t0049g0097 a0002c0001t0029g0002 a0001c0002t0001g0060 a0001c0002t0049g0097 a0002c0001t0029g0002	3	192	0.0156	18	c.835 others(37): Show c.835+13477_835+13478insTACACACACACACACACA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159901	A A	AAGGAGGA others(11): Show AAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0079 a0002c0001t0008g0079	1	192	0.0052	18	c.-41 others(39): Show c.-416-16760_-416-16759insCCTCCTCCTCCTCCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(11): Show AAGGAGAAGGAGAAGGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	192	0.0052	18	c.-41 others(39): Show c.-416-16766_-416-16765insCCTCCTTCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159949	G G	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0128 a0002c0001t0014g0128	1	192	0.0052	18	c.-41 others(39): Show c.-416-16808_-416-16807insTCTTCTTCTTCTTCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159955	G G	GAGAAGAA others(11): Show GAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0046 a0002c0008t0046	a0002c0008t0046g0090 a0002c0008t0046g0090	1	192	0.0052	18	c.-41 others(39): Show c.-416-16814_-416-16813insTCTTCTTCTTCTTCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159961	G G	GAGAAGGA others(11): Show GAGAAGGAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0037 a0002c0001t0001g0037	1	192	0.0052	18	c.-41 others(39): Show c.-416-16820_-416-16819insTCTTCTTCTTCTCCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41216419	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0051 a0001c0002t0038g0051	1	192	0.0052	18	c.-24 others(29): Show c.-2449_-2432dupCCCCCCCCCCCCCCCCCC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding		1878		chr4	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(11): Show CCGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0032 a0003c0007t0006 a0001c0001t0032 a0003c0007t0006	a0001c0001t0032g0228 a0003c0007t0006g0265 a0001c0001t0032g0228 a0003c0007t0006g0265	2	350	0.0057	18	c.120 others(33): Show c.1208-70_1208-69insCGGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	350	0.0029	18	c.120 others(33): Show c.1208-67_1208-66insGGGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
APC_chr5_112732885_112851239	112836165	T T	TCCCCCCC others(11): Show TCCCCCCCCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	294	0.0034	18	c.195 others(37): Show c.1958+1012_1958+1013insGCCCCCCCCCCCCCCCCC	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG01167.hp1 others(13): Show HG00408.hp1 HG01081.hp1 HG01167.hp1 HG01496.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02074.hp1 HG02273.hp1 HG03492.hp2 NA18965.hp2 NA18998.hp1 NA19004.hp2 NA19012.hp1 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0001 a0001c0001t0001g0043	16	318	0.0503	18	c.-13 others(29): Show c.-1315_-1314insTTTTTTTTTTTTTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APEH_chr3_49669351_49688971	49673801	C C	CCTCACGC others(11): Show CCTCACGCTCACGCTCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01168.hp1 others(4): Show HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp2 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0002 a0001c0002t0004g0002 a0001c0002t0001g0002 a0001c0002t0004g0002	7	318	0.0220	18	c.-60 others(27): Show c.-601_-600insCTCACGCTCACGCTCACG	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		549		chr3	TogoVar
APELA_chr4_164872178_164902527	164884121	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	434	0.0023	18	c.1+ others(33): Show c.1+5113_*1+5114insAAGAAAGAAAGAAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164886151	A A	ACTTAAGG others(11): Show ACTTAAGGTACAAACCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(50): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00642.hp1 HG00673.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG02004.hp1 HG02071.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02818.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03927.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18959.hp1 NA18966.hp2 NA18969.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19058.hp2 NA19076.hp1 NA19078.hp1 NA19082.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0023 a0001c0001t0029	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0027 others(36): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0002g0015 a0001c0001t0002g0082 a0001c0001t0002g0097 a0001c0001t0003g0010 a0001c0001t0003g0079 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0010g0056 a0001c0001t0023g0098 a0001c0001t0029g0084	53	434	0.1221	18	c.1+ others(33): Show c.1+7142_*1+7143insCTTAAGGTACAAACCTTT	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2			chr4	TogoVar
APLP2_chr11_130064894_130149805	130067080	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0193 a0001c0001t0015g0193	1	274	0.0037	18	c.-28 others(29): Show c.-2898_-2897insTTTTTTTTTTTTTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding		2813		chr11	TogoVar
APLP2_chr11_130064894_130149805	130083026	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02257.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0223 a0001c0001t0005g0235 a0001c0001t0002g0223 a0001c0001t0005g0235	2	274	0.0073	18	c.105 others(37): Show c.105+12954_105+12971dupTTTTTTTTTTTTTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130092702	G G	GGAGGGAG others(11): Show GGAGGGAGAGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01074.hp2 others(16): Show HG00140.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp1 HG01978.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02698.hp1 HG02886.hp1 HG03139.hp1 HG03579.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0142 a0001c0001t0001g0143 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0264 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0009g0254 a0001c0001t0009g0257 a0002c0002t0002g0127 a0002c0002t0002g0128	19	274	0.0693	18	c.106 others(37): Show c.106-16726_106-16725insAGGGAGAGAGAGGGAGAG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA4_chr11_116815700_116828304	116824772	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA19012.hp2 NA18975.hp1 NA19012.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	2	462	0.0043	18	c.-15 others(29): Show c.-1582_-1581insATATATATTTTTTTTTTT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		1469		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7660410	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01069.hp2 others(14): Show HG00408.hp1 HG00438.hp1 HG01069.hp2 HG01071.hp1 HG01891.hp1 HG02015.hp2 HG02132.hp2 HG02258.hp1 HG02735.hp1 HG02738.hp1 HG03139.hp1 HG03688.hp2 HG04184.hp1 NA18961.hp2 NA19004.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0072 a0001c0002t0001g0326 a0001c0002t0001g0330 others(13): Show a0001c0002t0001g0072 a0001c0002t0001g0326 a0001c0002t0001g0330 a0001c0003t0001g0006 a0001c0003t0001g0035 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0055 a0001c0003t0001g0316 a0001c0003t0001g0332 a0002c0001t0001g0088 a0002c0001t0001g0096	17	432	0.0394	18	c.16+ others(33): Show c.16+5446_16+5447insCTTTCTTTCTTTCTTTCT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7660410	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp1 NA19043.hp2 HG01243.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0070 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0070	3	432	0.0069	18	c.16+ others(33): Show c.16+5446_16+5447insCTCTCTTTCTTTCTTTCT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7665752	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0409 a0001c0003t0001g0409	1	432	0.0023	18	c.16+ others(30): Show c.16+87_16+104dupGTGTGTGTGTGTGTGTGT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988669	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	354	0.0028	18	c.570 others(33): Show c.570-787_570-786insTTCTTTCTTTCTTTCTTT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988681	T T	TTCTCTCT others(11): Show TTCTCTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	354	0.0028	18	c.570 others(33): Show c.570-771_570-770insCTTTCTCTCTCTCTCTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988681	T T	TTCTCTCT others(11): Show TTCTCTCTTTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	354	0.0028	18	c.570 others(33): Show c.570-771_570-770insCTTTCTCTCTTTCTCTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(11): Show CTCTCTTTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02258.hp1 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0033 a0004c0004t0001g0033	2	354	0.0057	18	c.570 others(33): Show c.570-771_570-770insCTTTCTCTCTCTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(11): Show CTCTCTTTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 NA18956.hp2 others(4): Show HG01106.hp2 HG02055.hp2 NA18956.hp2 NA18992.hp1 NA19011.hp2 NA19012.hp1 NA19083.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 a0001c0001t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0030 a0001c0001t0001g0093 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0093 a0001c0001t0001g0132 a0002c0002t0001g0042 a0005c0006t0001g0139	7	354	0.0198	18	c.570 others(33): Show c.570-771_570-770insCTTTCTCTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3B_chr22_38977347_38997779	38988683	C C	CTCTCTTT others(11): Show CTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00673.hp2 others(15): Show HG00280.hp1 HG00639.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01358.hp2 HG01496.hp2 HG02109.hp2 HG02257.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG03225.hp2 HG03579.hp1 NA19030.hp2 NA19079.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0015 a0002c0002 a0003c0003 others(1): Show a0001c0015 a0002c0002 a0003c0003 a0003c0028	a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0028t0001	a0001c0015t0001g0158 a0002c0002t0001g0003 a0002c0002t0001g0037 others(9): Show a0001c0015t0001g0158 a0002c0002t0001g0003 a0002c0002t0001g0037 a0002c0002t0001g0050 a0002c0002t0001g0159 a0002c0002t0001g0170 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0214 a0002c0002t0002g0003 a0003c0003t0001g0003 a0003c0028t0001g0003	18	354	0.0509	18	c.570 others(33): Show c.570-771_570-770insCTTTCTTTCTTTCTTTCT	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3G_chr22_39072275_39092743	39072899	C C	CAGAACAG others(11): Show CAGAACAGAAAATAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	424	0.0024	18	c.-44 others(29): Show c.-4463_-4462insAGAACAGAAAATAGAAGG	APOBEC3G	ENSG00000239713.9	transcript	ENST00000407997.4	protein_coding		4375		chr22	TogoVar
APOBEC3G_chr22_39072275_39092743	39091343	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG02040.hp2 others(14): Show HG01081.hp2 HG01169.hp2 HG02040.hp2 HG02145.hp2 HG02258.hp2 HG02523.hp2 HG02965.hp2 HG03098.hp2 HG03516.hp2 HG03831.hp2 NA18950.hp1 NA18955.hp1 NA18963.hp2 NA18967.hp1 NA18977.hp2 NA19012.hp1 NA19056.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0001c0001t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0001g0073 a0001c0001t0001g0091 a0002c0003t0001g0004 a0003c0004t0001g0005	17	424	0.0401	18	c.39 others(29): Show c.3922_*3923insGTGTGTGTGTGTGTGTGT	APOBEC3G	ENSG00000239713.9	transcript	ENST00000407997.4	protein_coding		3601		chr22	TogoVar
APOC2_chr19_44941051_44954565	44946191	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	398	0.0025	18	c.-14 others(33): Show c.-14+143_-14+160dupTGTGTGTGTGTGTGTGTG	APOC2	ENSG00000234906.11	transcript	ENST00000252490.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
APOC2_chr19_44941051_44954565	44946234	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	398	0.0025	18	c.-14 others(33): Show c.-14+160_-14+161insTGTGTGTGTGTGTGTGAG	APOC2	ENSG00000234906.11	transcript	ENST00000252490.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
APOC4_chr19_44937237_44950496	44946191	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0007	1	398	0.0025	18	c.88 others(27): Show c.886_*887insTGTGTGTGTGTGTGTGTG	APOC4	ENSG00000267467.4	transcript	ENST00000592954.2	protein_coding		696		chr19	TogoVar
APOC4_chr19_44937237_44950496	44946234	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0007	1	398	0.0025	18	c.92 others(27): Show c.929_*930insGTGTGTGTGTGTGTGTGA	APOC4	ENSG00000267467.4	transcript	ENST00000592954.2	protein_coding		739		chr19	TogoVar
APOD_chr3_195563705_195588940	195586131	T T	TTTTTGAG others(11): Show TTTTTGAGACCGACCTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	438	0.0023	18	c.-22 others(29): Show c.-2289_-2288insTGAAGGTCGGTCTCAAAA	APOD	ENSG00000189058.9	transcript	ENST00000343267.8	protein_coding		2192		chr3	TogoVar
APOH_chr17_66207033_66234415	66221262	A A	AGAAAGAA others(11): Show AGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0046 a0003c0003t0003g0046	1	386	0.0026	18	c.416 others(33): Show c.416-521_416-520insCCTTCCTTCCTTTCTTTC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(11): Show GTCTCCCTGTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03669.hp2 HG04184.hp1 others(6): Show HG01516.hp1 HG03669.hp2 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18964.hp1 NA19066.hp1 NA19081.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0002c0005t0006	a0001c0001t0001g0037 a0001c0002t0001g0031 a0001c0002t0001g0083 others(3): Show a0001c0001t0001g0037 a0001c0002t0001g0031 a0001c0002t0001g0083 a0002c0005t0001g0063 a0002c0005t0001g0064 a0002c0005t0006g0027	9	366	0.0246	18	c.11- others(31): Show c.11-374_11-373insGAAAGAGAGACAGGGAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOM_chr6_31650894_31663210	31652320	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 NA19075.hp2 NA19077.hp1 HG01192.hp1 NA19075.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	419	0.0072	18	c.-36 others(29): Show c.-3647_-3646insACACACACACACACACAC	APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding		3573		chr6	TogoVar
APOOL_chrX_84998877_85098315	85008535	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19087.hp1 NA18965.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0059 a0001c0001t0021 a0001c0001t0059	a0001c0001t0021g0159 a0001c0001t0059g0194 a0001c0001t0021g0159 a0001c0001t0059g0194	2	256	0.0078	18	c.15+ others(33): Show c.15+4630_15+4647dupGTGTGTGTGTGTGTGTGT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85038524	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0015 a0001c0001t0106g0015	1	256	0.0039	18	c.16- others(33): Show c.16-7913_16-7896dupTTTTTTTTTTTTTTTTTT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85076995	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG06807.hp1 HG01884.hp2 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0037 a0001c0001t0006 a0001c0001t0037	a0001c0001t0006g0242 a0001c0001t0006g0247 a0001c0001t0037g0223 a0001c0001t0006g0242 a0001c0001t0006g0247 a0001c0001t0037g0223	3	256	0.0117	18	c.718 others(35): Show c.718+2609_718+2626dupTATATATATATATATATA	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829569	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02922.hp2 HG00673.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0003g0125 a0001c0001t0001g0030 a0001c0001t0003g0125	2	269	0.0074	18	c.40 others(29): Show c.4072_*4073insATATATATATATATATAT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3783		chrX	TogoVar
APOO_chrX_23828353_23912938	23849583	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02109.hp2 NA19000.hp1 others(1): Show HG01978.hp1 HG02109.hp2 NA19000.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0003g0252	4	269	0.0149	18	c.561 others(35): Show c.561+6701_561+6718dupTTTTTTTTTTTTTTTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8			chrX	TogoVar
APOO_chrX_23828353_23912938	23861293	T T	TTCTCTTG others(11): Show TTCTCTTGAGATCTGGTTG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	269	0.0037	18	c.389 others(35): Show c.389-2561_389-2560insCAACCAGATCTCAAGAGA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	5/8			chrX	TogoVar
APOO_chrX_23828353_23912938	23872521	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	269	0.0037	18	c.292 others(35): Show c.292+1864_292+1881dupTATATATATATATATATA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	4/8			chrX	TogoVar
APPBP2_chr17_60438158_60531242	60475648	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	144	0.0069	18	c.503 others(35): Show c.503+3482_503+3499dupGTGTGTGTGTGTGTGTGT	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	4/12			chr17	TogoVar
APPBP2_chr17_60438158_60531242	60518503	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02723.hp1 others(2): Show HG01243.hp1 HG02451.hp2 HG02723.hp1 HG03225.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0030 a0002c0002t0003 a0002c0002t0004 a0001c0001t0030 a0002c0002t0003 a0002c0002t0004	a0001c0001t0030g0042 a0002c0002t0003g0025 a0002c0002t0004g0034 others(2): Show a0001c0001t0030g0042 a0002c0002t0003g0025 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0004g0036	5	144	0.0347	18	c.138 others(35): Show c.138+7273_138+7290dupACACACACACACACACAC	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12			chr17	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02647.hp1 HG03017.hp1 others(1): Show HG00735.hp2 HG02647.hp1 HG03017.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0166 others(1): Show a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0166 a0001c0001t0008g0124	4	266	0.0150	18	c.184 others(37): Show c.1842+1619_1842+1636dupTTTTTTTTTTTTTTTTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
APPL2_chr12_105168300_105241174	105186629	T T	TATATATG others(11): Show TATATATGATATCGATATC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp2 HG03209.hp1 HG03579.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0116 a0004c0009t0011g0117 a0004c0009t0011g0116 a0004c0009t0011g0117	2	392	0.0051	18	c.163 others(37): Show c.1634+1643_1634+1644insGATATCGATATCATATAT	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	17/20			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)