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
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01358.hp2 HG02273.hp1 others(8): Show HG00423.hp1 HG01358.hp2 HG02273.hp1 HG02886.hp2 HG03704.hp2 NA18967.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19011.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0055 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0014g0086	11	318	0.0346	22	c.376 others(39): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	318	0.0031	22	c.376 others(39): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	318	0.0031	22	c.376 others(39): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTGTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631008	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	318	0.0031	22	c.696 others(39): Show c.696+1859_696+1880dupACACACACACACACACACACAC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	318	0.0031	22	c.696 others(39): Show c.696+1880_696+1881insACACACACACACACACTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	318	0.0031	22	c.696 others(39): Show c.696+1880_696+1881insACACACACACACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0106 a0001c0001t0013g0106	1	318	0.0031	22	c.696 others(39): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	318	0.0031	22	c.696 others(39): Show c.696+1880_696+1881insACACACACACTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02735.hp2 HG02738.hp2 others(2): Show HG01952.hp1 HG02735.hp2 HG02738.hp2 HG03710.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0267 a0001c0002t0001g0268 others(2): Show a0001c0002t0001g0228 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0272 a0001c0002t0001g0273	5	318	0.0157	22	c.696 others(39): Show c.696+1880_696+1881insACACACACATACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	318	0.0031	22	c.696 others(39): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACTC others(15): Show ACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	318	0.0031	22	c.696 others(39): Show c.696+1880_696+1881insACACTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F5_chr8_85172154_85219518	85180511	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18993.hp1 NA18980.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0200 a0001c0002t0001g0201	2	336	0.0060	22	c.234 others(39): Show c.234+2880_234+2901dupATATATATATATATATATATAT	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	366	0.0027	22	c.-29 others(33): Show c.-2977_-2976insATATATATATATTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 NA18973.hp1 HG01928.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0190 a0001c0001t0002g0162 a0001c0001t0002g0190	2	366	0.0055	22	c.-29 others(33): Show c.-2977_-2976insATATATATATATATTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 NA18969.hp2 HG03704.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0002g0137 a0001c0001t0001g0164 a0001c0001t0002g0137	2	366	0.0055	22	c.-29 others(33): Show c.-2977_-2976insATATATATATATATATTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	366	0.0027	22	c.-29 others(33): Show c.-2977_-2976insATATATATATATATATATTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EAPP_chr14_34510938_34544701	34524657	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	360	0.0028	22	c.581 others(35): Show c.581+18_581+39dupCACACACACACACACACACACA	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding	5/5			chr14	TogoVar
EBF1_chr5_158690920_159104916	158969919	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00408.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0075 a0001c0001t0068 a0001c0001t0075	a0001c0001t0068g0062 a0001c0001t0075g0072 a0001c0001t0068g0062 a0001c0001t0075g0072	2	196	0.0102	22	c.554 others(43): Show c.554+103476_554+103477insCTTTCTTTCTTTCTTTCTTTCT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159050162	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0117 a0001c0001t0021g0117	1	196	0.0051	22	c.554 others(41): Show c.554+23233_554+23234insAAAGAGAGAAGAGAGAGAGAGA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF3_chr10_129830233_129969274	129875187	C C	CTTCTTTT others(15): Show CTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	338	0.0030	22	c.637 others(39): Show c.637-1592_637-1591insAAAAAAAAAAAAAAAAAAAGAA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	7/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG02109.hp2 others(8): Show HG00738.hp1 HG01255.hp2 HG02109.hp2 HG02818.hp2 HG02895.hp1 HG03486.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG04204.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 a0001c0001t0033 a0001c0001t0051 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0162 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0001g0162 a0001c0001t0001g0283 a0001c0001t0006g0121 a0001c0001t0007g0003 a0001c0001t0023g0271 a0001c0001t0033g0015 a0001c0001t0051g0323 a0001c0002t0004g0300 a0001c0002t0006g0316	11	338	0.0325	22	c.554 others(41): Show c.554+39585_554+39606dupTTTTTTTTTTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02451.hp1 HG03225.hp2 others(6): Show HG02135.hp2 HG02451.hp1 HG03225.hp2 NA18943.hp2 NA18944.hp2 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0172 a0001c0001t0001g0191	9	438	0.0206	22	c.538 others(37): Show c.538-414_538-393dupAAAAAAAAAAAAAAAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBNA1BP2_chr1_43159184_43177290	43174002	T T	TCATTAAT others(15): Show TCATTAATGATGATGAGTATCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	392	0.0026	22	c.-19 others(33): Show c.-1906_-1885dupCAGATACTCATCATCATTAATG	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		1713		chr1	TogoVar
EBPL_chr13_49655674_49696486	49673962	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	410	0.0024	22	c.172 others(39): Show c.172-4138_172-4117dupGTGTGTGTGTGTGTGTGTGTGT	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	400	0.0025	22	c.-28 others(39): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	400	0.0025	22	c.-28 others(39): Show c.-28+2604_-28+2605insATATATATATATATTTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407428	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	354	0.0028	22	c.265 others(41): Show c.2652+1142_2652+1143insCTTTTTTTTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02109.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0311 a0002c0002t0004g0312 a0002c0002t0004g0311 a0002c0002t0004g0312	2	354	0.0057	22	c.22+ others(37): Show c.22+4207_22+4208insACACACACACACACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446479	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA19005.hp2 NA19064.hp2 NA18990.hp2 NA19005.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005	3	369	0.0081	22	c.24 others(33): Show c.2420_*2421insGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2080		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446487	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 NA20752.hp1 HG01192.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0005 a0001c0001t0001g0028	2	369	0.0054	22	c.24 others(33): Show c.2412_*2413insGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2072		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446491	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	369	0.0054	22	c.24 others(33): Show c.2408_*2409insGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2068		chr5	TogoVar
ECSIT_chr19_11500929_11534134	11508383	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01928.hp1 others(5): Show HG00735.hp1 HG01106.hp2 HG01928.hp1 HG02148.hp2 HG02559.hp1 HG03041.hp1 NA18960.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0095 others(4): Show a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104	8	312	0.0256	22	c.739 others(37): Show c.739-336_739-335insAAAAAAAAAAAAAAAAAAAAAA	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding	4/7			chr19	TogoVar
ECT2L_chr6_138791087_138909070	138873892	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG03041.hp2 others(1): Show HG02723.hp2 HG02922.hp1 HG03041.hp2 NA20300.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0008 a0003c0004 a0004c0008	a0003c0004t0011 a0003c0004t0025 a0004c0008t0009 a0003c0004t0011 a0003c0004t0025 a0004c0008t0009	a0003c0004t0011g0325 a0003c0004t0025g0244 a0004c0008t0009g0298 others(1): Show a0003c0004t0011g0325 a0003c0004t0025g0244 a0004c0008t0009g0298 a0004c0008t0009g0309	4	326	0.0123	22	c.157 others(41): Show c.1579-2559_1579-2558insATGTGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873894	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01943.hp1 HG02109.hp1 others(4): Show HG01884.hp2 HG01943.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG03139.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0005c0024 a0001c0001 a0005c0007 a0005c0024	a0001c0001t0001 a0005c0007t0001 a0005c0024t0005 a0001c0001t0001 a0005c0007t0001 a0005c0024t0005	a0001c0001t0001g0026 a0005c0007t0001g0300 a0005c0007t0001g0301 others(4): Show a0001c0001t0001g0026 a0005c0007t0001g0300 a0005c0007t0001g0301 a0005c0007t0001g0302 a0005c0007t0001g0303 a0005c0007t0001g0317 a0005c0024t0005g0276	7	326	0.0215	22	c.157 others(41): Show c.1579-2557_1579-2556insATGTGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873896	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0310 a0004c0006t0009g0310	1	326	0.0031	22	c.157 others(41): Show c.1579-2557_1579-2556insGTATGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138908854	G G	GAAGACAT others(15): Show GAAGACATTCATAGTTAGCACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	326	0.0031	22	c.62 others(33): Show c.6227_*6228insAAGACATTCATAGTTAGCACTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		4785		chr6	TogoVar
ECT2_chr3_172745726_172826474	172797018	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	318	0.0031	22	c.190 others(41): Show c.1908-5584_1908-5563dupGTGTGTGTGTGTGTGTGTGTGT	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDARADD_chr1_236389286_236489930	236405925	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18951.hp1 NA18979.hp2 others(1): Show HG00558.hp2 NA18951.hp1 NA18979.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0001c0001t0001 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0112 a0001c0001t0001g0170 a0001c0001t0004g0002 others(1): Show a0001c0001t0001g0112 a0001c0001t0001g0170 a0001c0001t0004g0002 a0002c0002t0002g0251	4	294	0.0136	22	c.62- others(37): Show c.62-3290_62-3289insTTCTTTCTTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01123.hp2 HG01256.hp1 others(24): Show HG00438.hp2 HG01123.hp2 HG01256.hp1 HG01891.hp2 HG02027.hp1 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02683.hp1 HG02717.hp1 HG02965.hp1 HG03041.hp2 HG04184.hp2 NA18944.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0019	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0055 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0037 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0125 a0001c0001t0002g0155 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0003g0153 a0001c0001t0003g0160 a0001c0001t0008g0107 a0001c0001t0019g0161	27	226	0.1195	22	c.396 others(41): Show c.396+39062_396+39083dupATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATAGATA others(15): Show GATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19009.hp1 HG01496.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0002g0169 a0001c0001t0001g0021 a0001c0001t0002g0169	2	226	0.0089	22	c.397 others(41): Show c.397-68050_397-68049insATAGATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04184.hp1 HG00423.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0002g0053 a0001c0001t0001g0117 a0001c0001t0002g0053	2	226	0.0089	22	c.397 others(41): Show c.397-68050_397-68049insATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888978	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02027.hp1 HG02602.hp1 others(5): Show HG00741.hp2 HG02027.hp1 HG02602.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0220 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0220 a0001c0001t0002g0037 a0001c0001t0002g0069 a0001c0001t0002g0089 a0001c0001t0002g0155 a0001c0001t0003g0147	8	226	0.0354	22	c.397 others(41): Show c.397-68027_397-68006dupATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74668764	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	286	0.0035	22	c.484 others(39): Show c.484+2690_484+2691insCTTTCTTTCTTTCTTTCTTTCT	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDEM2_chr20_35110364_35152336	35141738	T T	TCCAATTC others(15): Show TCCAATTCATTAGGTTTAGGGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0134 a0005c0010t0001g0134	1	332	0.0030	22	c.364 others(37): Show c.364+613_364+634dupCACCCTAAACCTAATGAATTGG	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding	4/10			chr20	TogoVar
EDEM3_chr1_184685237_184759858	184720509	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG03139.hp1 HG02258.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0002 a0001c0003t0009g0002	3	324	0.0093	22	c.951 others(37): Show c.951+779_951+780insAAAAAAAAAAAAAAAAAAAAAA	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	9/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	83987865	G G	GTGTGTGT others(15): Show GTGTGTGTGTATGTATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG03098.hp1 others(1): Show HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0003t0005 a0001c0001t0003 a0001c0003t0003 a0001c0003t0005	a0001c0001t0003g0060 a0001c0001t0003g0145 a0001c0003t0003g0043 others(1): Show a0001c0001t0003g0060 a0001c0001t0003g0145 a0001c0003t0003g0043 a0001c0003t0005g0051	4	158	0.0253	22	c.113 others(43): Show c.1138-24506_1138-24505insTATATATATACATACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84230763	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18984.hp2 HG01070.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0080 a0001c0001t0003g0089 a0001c0001t0002g0080 a0001c0001t0003g0089	2	158	0.0127	22	c.197 others(37): Show c.197-901_197-880dupCACACACACACACACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01515.hp1 HG02683.hp1 others(5): Show HG00738.hp1 HG01515.hp1 HG02683.hp1 HG02738.hp1 HG02965.hp2 HG03098.hp2 HG03704.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0014	a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0070 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0123 a0001c0001t0002g0047 a0001c0001t0003g0078 a0001c0002t0001g0011 a0001c0002t0014g0068	8	158	0.0506	22	c.196 others(39): Show c.196+1569_196+1590dupTTTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02683.hp2 HG02922.hp1 others(2): Show HG00323.hp2 HG02683.hp2 HG02922.hp1 HG03669.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0014 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0014 a0001c0004t0003	a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0004g0017 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0004g0017 a0001c0002t0014g0068 a0001c0004t0003g0054	5	158	0.0317	22	c.68- others(37): Show c.68-8469_68-8448dupAAAAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84340534	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	158	0.0063	22	c.67+ others(39): Show c.67+43773_67+43774insTATATATAGAGAGAGAGAGAGA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)