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
ECT2_chr3_172745726_172826474	172797018	C C	CAGATTCA others(17): Show CAGATTCATATATCAGGTTCAACTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03710.hp1 HG04204.hp2 others(1): Show HG01192.hp2 HG03710.hp1 HG04204.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0083 a0001c0001t0007g0084 a0001c0001t0007g0019 a0001c0001t0007g0083 a0001c0001t0007g0084	4	318	0.0126	24	c.190 others(43): Show c.1908-5598_1908-5597insAGATTCATATATCAGGTTCAACTG	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	18/24			chr3	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0010 a0001c0003t0004g0010	1	294	0.0034	24	c.62- others(39): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp2 NA18975.hp1 others(3): Show NA18747.hp1 NA18747.hp2 NA18975.hp1 NA18987.hp1 NA18998.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0003t0004	a0001c0001t0001g0075 a0001c0001t0001g0097 a0001c0001t0002g0055 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0097 a0001c0001t0002g0055 a0001c0003t0002g0006 a0001c0003t0002g0040 a0001c0003t0004g0027	6	294	0.0204	24	c.62- others(39): Show c.62-3339_62-3338insCTTCCTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(17): Show CTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18960.hp2 HG02129.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0005 a0001c0003t0003 a0001c0005t0005	a0001c0003t0003g0022 a0001c0005t0005g0009 a0001c0003t0003g0022 a0001c0005t0005g0009	2	294	0.0068	24	c.62- others(39): Show c.62-3339_62-3338insCTTCTTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0077 a0001c0004t0005g0077	1	294	0.0034	24	c.62- others(39): Show c.62-3313_62-3290dupTTCTTTCTTTCTTTCTTTCTTTCT	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(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp2 HG03579.hp1 others(7): Show HG02615.hp2 HG03486.hp2 HG03579.hp1 HG03654.hp1 HG03834.hp2 NA18986.hp1 NA18994.hp1 NA19009.hp1 NA19060.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0122 others(7): Show a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0002g0169 a0001c0001t0002g0181 a0001c0001t0003g0060 a0001c0001t0003g0093 a0001c0001t0003g0175	10	226	0.0443	24	c.396 others(43): Show c.396+39060_396+39083dupATATATATATATATATATATATAT	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(17): Show GATAGATAGATAGATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19012.hp1 NA18948.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0176 a0001c0001t0003g0158 a0001c0001t0003g0176	2	226	0.0089	24	c.397 others(43): Show c.397-68050_397-68049insATAGATAGATAGATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	226	0.0044	24	c.397 others(43): Show c.397-68050_397-68049insATATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888978	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02132.hp1 NA18990.hp1 others(1): Show HG02080.hp2 HG02132.hp1 NA18990.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0151 a0001c0001t0001g0211 a0001c0001t0002g0068 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0211 a0001c0001t0002g0068 a0001c0001t0002g0081	4	226	0.0177	24	c.397 others(43): Show c.397-68029_397-68006dupATATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAAAGAA others(17): Show TGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01069.hp2 others(34): Show HG00438.hp1 HG00597.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG02040.hp2 HG02145.hp2 HG02257.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG04204.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18962.hp1 NA18969.hp2 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18994.hp1 NA19002.hp1 NA19007.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp1 NA19070.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0033 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0268 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0280 a0001c0001t0003g0284	37	286	0.1294	24	c.484 others(41): Show c.484+2702_484+2725dupTTTCTTTCTTTCTTTCTTTCTTTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAATGAA others(17): Show TGAATGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0227 a0001c0002t0002g0227	1	286	0.0035	24	c.484 others(41): Show c.484+2725_484+2726insTTTCTTTCTTTCTTTCTTTCATTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDDM13_chr19_56267748_56315454	56302545	G G	GTTCCTCC others(17): Show GTTCCTCCCTCCCCCCTTCCTTTTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	396	0.0025	24	c.423 others(39): Show c.423+462_423+463insCCCTTCCTTTTCTTCCTCCCTCCC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDIL3_chr5_83935554_84389880	83987865	G G	GTGTGTGT others(17): Show GTGTGTGTGTATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	158	0.0063	24	c.113 others(45): Show c.1138-24506_1138-24505insTATATATATATACATACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84141952	G G	GATCGATC others(17): Show GATCGATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG02083.hp2 HG00140.hp1 HG00558.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0014 a0001c0001t0002g0076 a0001c0001t0001g0106 a0001c0001t0002g0014 a0001c0001t0002g0076	3	158	0.0190	24	c.356 others(41): Show c.356-4599_356-4598insAGATAGATAGATAGATAGATCGAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp1 HG01243.hp2 others(2): Show HG00558.hp1 HG01123.hp1 HG01243.hp2 HG01358.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0007	a0001c0001t0002g0131 a0001c0001t0003g0133 a0001c0001t0004g0128 others(2): Show a0001c0001t0002g0131 a0001c0001t0003g0133 a0001c0001t0004g0128 a0001c0002t0001g0102 a0001c0002t0007g0057	5	158	0.0317	24	c.196 others(41): Show c.196+1567_196+1590dupTTTTTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84371341	A A	ATATATAT others(17): Show ATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	158	0.0063	24	c.67+ others(41): Show c.67+12966_67+12967insCACACATATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEF1A1_chr6_73510750_73526032	73524768	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18956.hp1 HG02027.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	424	0.0047	24	c.-38 others(35): Show c.-3800_-3799insTATATATATATATATATATATATA	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3737		chr6	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp2 HG02109.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0310 a0001c0001t0004g0346 a0001c0001t0004g0310 a0001c0001t0004g0346	2	358	0.0056	24	c.400 others(41): Show c.400-3626_400-3625insATATATATTTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788708	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	358	0.0028	24	c.291 others(39): Show c.291+334_291+335insTATATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01517.hp2 HG01943.hp1 others(29): Show HG01074.hp2 HG01517.hp2 HG01943.hp1 HG02109.hp2 HG02622.hp1 HG03453.hp2 HG03490.hp1 HG03654.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18941.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18967.hp1 NA18967.hp2 NA18974.hp1 NA18977.hp1 NA18984.hp2 NA18989.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19070.hp2 NA19076.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0100 others(29): Show a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0004g0310 a0001c0001t0008g0176 a0002c0002t0001g0007	32	358	0.0894	24	c.291 others(39): Show c.291+332_291+333insTATATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0308 a0001c0001t0004g0308	1	358	0.0028	24	c.291 others(39): Show c.291+332_291+333insTATATATATATATATATATATAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02970.hp2 others(3): Show HG02109.hp1 HG02572.hp2 HG02970.hp2 HG03225.hp1 NA19240.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0009 a0003c0004t0005g0010 a0003c0004t0005g0015 others(3): Show a0003c0004t0005g0009 a0003c0004t0005g0010 a0003c0004t0005g0015 a0003c0004t0005g0016 a0003c0004t0005g0017 a0003c0004t0005g0018	6	290	0.0207	24	c.246 others(39): Show c.246+557_246+558insTTTTTTTTTTTTTTTTTTTTTTTT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01261.hp1 HG02572.hp2 others(11): Show HG01258.hp1 HG01261.hp1 HG02572.hp2 HG02818.hp1 HG02970.hp1 HG03098.hp2 HG04115.hp2 HG04228.hp1 NA18950.hp2 NA18973.hp1 NA18994.hp1 NA19060.hp2 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0024 a0001c0007t0001 a0001c0001t0001 a0001c0001t0024 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0234 a0001c0001t0024g0227 a0001c0007t0001g0204	14	342	0.0409	24	c.-55 others(35): Show c.-5527_-5526insTATATATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	342	0.0029	24	c.-55 others(35): Show c.-5540_-5539insGTATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579770	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18985.hp2 HG02622.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0015 a0001c0001t0001g0046	2	272	0.0074	24	c.137 others(43): Show c.137+19206_137+19207insAGAGAGAGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03491.hp2 HG03492.hp2 others(2): Show HG02698.hp1 HG03491.hp2 HG03492.hp2 NA18987.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0001g0136 a0001c0001t0001g0143	5	272	0.0184	24	c.137 others(43): Show c.137+19208_137+19231dupGAGAGAGAGAGAGAGAGAGAGAGA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGAGAG others(17): Show TGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	272	0.0037	24	c.137 others(43): Show c.137+19208_137+19209insTGAGAGAGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG03486.hp1 others(3): Show HG00423.hp1 HG00673.hp2 HG03486.hp1 HG03516.hp1 NA19079.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0031	a0001c0001t0002g0274 a0001c0001t0003g0280 a0001c0001t0007g0016 others(3): Show a0001c0001t0002g0274 a0001c0001t0003g0280 a0001c0001t0007g0016 a0001c0001t0009g0331 a0001c0001t0014g0307 a0001c0001t0031g0325	6	346	0.0173	24	c.-20 others(35): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36165586	A A	AATTTATT others(17): Show AATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02922.hp1 HG03195.hp2 HG00673.hp1 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0011 a0001c0001t0005 a0001c0004t0011	a0001c0001t0005g0015 a0001c0001t0005g0343 a0001c0004t0011g0342 a0001c0001t0005g0015 a0001c0001t0005g0343 a0001c0004t0011g0342	3	346	0.0087	24	c.878 others(43): Show c.878+10393_878+10416dupATTTATTTATTTATTTATTTATTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	284	0.0035	24	c.411 others(43): Show c.411-38285_411-38262dupACACACACACACACACACACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG03486.hp2 others(2): Show HG02055.hp2 HG03130.hp2 HG03486.hp2 NA19004.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0004t0023 a0002c0005t0002 others(1): Show a0001c0001t0001 a0001c0004t0023 a0002c0005t0002 a0002c0005t0004	a0001c0001t0001g0082 a0001c0001t0001g0143 a0001c0004t0023g0274 others(2): Show a0001c0001t0001g0082 a0001c0001t0001g0143 a0001c0004t0023g0274 a0002c0005t0002g0250 a0002c0005t0004g0249	5	284	0.0176	24	c.410 others(43): Show c.410+50088_410+50089insATATATATATATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp2 HG00741.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0089 a0002c0002t0003g0284 a0002c0002t0001g0089 a0002c0002t0003g0284	2	356	0.0056	24	c.249 others(43): Show c.2495-4941_2495-4918dupTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46700986	A A	AGTGAGTG others(17): Show AGTGAGTGAGTGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	374	0.0027	24	c.481 others(41): Show c.481-4338_481-4337insACACACACACACTCACTCACTCAC	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	3/10			chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30041210	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG01884.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0213 a0003c0003t0002g0214	2	248	0.0081	24	c.120 others(43): Show c.1200+6848_1200+6849insGGAAGGAAGGAAGGAAGGAAGGAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30097014	A A	ATATACAT others(17): Show ATATACATATACATATACATATACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0129 a0005c0007t0002g0130 a0005c0007t0002g0129 a0005c0007t0002g0130	2	248	0.0081	24	c.432 others(43): Show c.4321+4101_4321+4102insGTATACATATACATATACATATAC	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0004 a0007c0007t0002g0004	1	290	0.0035	24	c.303 others(43): Show c.3032+3710_3032+3733dupAAAAAAAAAAAAAAAAAAAAAAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618143	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG01346.hp1 others(5): Show HG00323.hp2 HG01255.hp1 HG01346.hp1 HG03486.hp1 HG03942.hp2 HG04228.hp1 NA18944.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0006 a0002c0002 a0003c0003 a0006c0006	a0002c0002t0001 a0003c0003t0001 a0006c0006t0001 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001	a0002c0002t0001g0244 a0003c0003t0001g0207 a0003c0003t0001g0213 others(5): Show a0002c0002t0001g0244 a0003c0003t0001g0207 a0003c0003t0001g0213 a0003c0003t0001g0217 a0003c0003t0001g0232 a0003c0003t0001g0284 a0006c0006t0001g0265 a0006c0006t0001g0268	8	290	0.0276	24	c.246 others(43): Show c.2466-2245_2466-2222dupTCCTTCCTTCCTTCCTTCCTTCCT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(17): Show GGAAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0010 a0002c0002 a0009c0010	a0002c0002t0004 a0009c0010t0001 a0002c0002t0004 a0009c0010t0001	a0002c0002t0004g0289 a0009c0010t0001g0148 a0002c0002t0004g0289 a0009c0010t0001g0148	2	290	0.0069	24	c.246 others(43): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0027 a0027	a0027c0030 a0027c0030	a0027c0030t0009 a0027c0030t0009	a0027c0030t0009g0290 a0027c0030t0009g0290	1	290	0.0035	24	c.246 others(43): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCCTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01258.hp2 HG02055.hp2 others(4): Show HG00280.hp2 HG01258.hp2 HG02055.hp2 HG03491.hp2 HG03492.hp1 HG06807.hp2 NA18974.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0013 a0014c0017 a0001c0001 a0001c0013 a0014c0017	a0001c0001t0001 a0001c0013t0001 a0014c0017t0001 a0001c0001t0001 a0001c0013t0001 a0014c0017t0001	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0071 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0258 a0001c0013t0001g0031 a0014c0017t0001g0282 a0014c0017t0001g0283	7	290	0.0241	24	c.246 others(43): Show c.2466-2244_2466-2243insTTTCTTTCTTTCCTTCCTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03017.hp1 HG04115.hp1 others(1): Show HG02293.hp2 HG03017.hp1 HG04115.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0256 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0256 a0001c0001t0003g0002	4	290	0.0138	24	c.246 others(43): Show c.2466-2244_2466-2243insTTTCTTTCCTTCCTTCCTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	290	0.0035	24	c.246 others(43): Show c.2466-2244_2466-2243insTTTCCTTCCTTCCTTCCTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784631	A A	ATGTGTAT others(17): Show ATGTGTATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0021 a0004c0005t0001g0021	1	290	0.0035	24	c.-7- others(39): Show c.-7-2307_-7-2306insCATATATATGTGTATATATACACA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32935188	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0004 a0005c0013t0004	a0005c0013t0004g0097 a0005c0013t0004g0097	1	284	0.0035	24	c.279 others(43): Show c.2790+3855_2790+3856insTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18959.hp2 HG00621.hp1 NA18959.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0154 a0003c0003t0001g0145 a0001c0001t0001g0154 a0003c0003t0001g0145	2	284	0.0070	24	c.279 others(43): Show c.2791-4456_2791-4433dupTTTCTTTCTTTCTTTCTTTCTTTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939999	G G	GCCTCCCT others(17): Show GCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0003 a0018c0026t0003	a0018c0026t0003g0226 a0018c0026t0003g0226	1	284	0.0035	24	c.279 others(43): Show c.2791-3634_2791-3633insCCCTCCCTCCCTCCCTCCCTCCCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32940003	G G	GCCTCCCT others(17): Show GCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	284	0.0035	24	c.279 others(43): Show c.2791-3610_2791-3609insCCCTCCCTCCCTCCCTCCCTCCCT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55865188	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	350	0.0029	24	c.18 others(35): Show c.1884_*1885insATATATATATATATATATATATAT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding		778		chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55873066	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	350	0.0029	24	c.100 others(43): Show c.1000+1856_1000+1879dupTGTGTGTGTGTGTGTGTGTGTGTG	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55875333	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	350	0.0029	24	c.881 others(39): Show c.881-269_881-268insGTGTGTGTGTGTGTGTGTGTGTGT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	8/11			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)