Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASAP1_chr8_130047104_130448674	130049773	A A	AGGGGAAC others(35): Show AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0263 a0001c0001t0021g0263	1	259	0.0039	42	c.49 others(53): Show c.4957_*4958insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2330		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049797	G G	GGAACACA others(35): Show GGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0270 a0002c0002t0002g0270	1	178	0.0056	42	c.49 others(53): Show c.4933_*4934insTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCC ATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2306		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGGGGAAC others(35): Show GGGGGAACACATGGGGGGCAGAGGGGAATACATGGAGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0270 a0002c0002t0002g0270	1	275	0.0036	42	c.48 others(53): Show c.4853_*4854insTCTGCCCTCCATGTATTCCCCTCTGCCCCCCATG TGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	G G	GGAACACA others(35): Show GGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	229	0.0044	42	c.48 others(53): Show c.4850_*4851insTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2223		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049918	A A	AGGGGAAC others(35): Show AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	287	0.0035	42	c.48 others(53): Show c.4812_*4813insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2185		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049921	G G	GGAACACA others(35): Show GGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19091.hp1 NA19003.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0198 a0001c0001t0017g0199 a0001c0001t0017g0198 a0001c0001t0017g0199	2	200	0.0100	42	c.48 others(53): Show c.4809_*4810insTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCC ATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2182		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049950	T T	TGGGGGCA others(35): Show TGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	276	0.0036	42	c.47 others(53): Show c.4780_*4781insCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCT CTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2153		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049983	A A	AGAACACA others(35): Show AGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0198 a0001c0001t0017g0198	1	282	0.0035	42	c.47 others(53): Show c.4747_*4748insCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2120		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050045	G G	GGGAACAC others(35): Show GGGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	261	0.0038	42	c.46 others(53): Show c.4685_*4686insTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCA TGTGTTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2058		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050066	A A	AGAACACA others(35): Show AGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0297 a0001c0001t0032g0297	1	286	0.0035	42	c.46 others(53): Show c.4664_*4665insCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2037		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050158	G G	GGGGGGCA others(35): Show GGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18998.hp2 NA18950.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0160 a0002c0002t0002g0161 a0002c0002t0001g0160 a0002c0002t0002g0161	2	288	0.0069	42	c.45 others(53): Show c.4572_*4573insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1945		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050170	A A	AGAACACA others(35): Show AGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0062 a0002c0002t0026g0062	1	280	0.0036	42	c.45 others(53): Show c.4560_*4561insCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1933		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	152	0.0066	42	c.270 others(61): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCGCACACAC ACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	152	0.0066	42	c.270 others(61): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCACACACAC ACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	152	0.0066	42	c.270 others(61): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCACACACACAC ACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	152	0.0066	42	c.270 others(61): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCACACACACACAC ACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	152	0.0066	42	c.270 others(61): Show c.2701+3523_2701+3524insGCGCGCGCACACACACACACACACAC ACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0189 a0001c0004t0002g0189	1	152	0.0066	42	c.270 others(61): Show c.2701+3523_2701+3524insGCACACACACACACACACACACACAC ACACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02165.hp2 NA18957.hp1 others(1): Show HG01255.hp1 HG02165.hp2 NA18957.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0080 others(1): Show a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0143	4	212	0.0189	42	c.270 others(61): Show c.2701+3522_2701+3523insTGCGCGCGCGCGCGCGCGCACGCACA CGCGCACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASB13_chr10_5633867_5671595	5662569	A A	AAGAGAAG others(35): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19067.hp1 NA19088.hp1 HG02080.hp1 NA19067.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0385 a0001c0001t0004g0034 a0001c0001t0001g0385 a0001c0001t0004g0034	3	413	0.0073	42	c.43+ others(57): Show c.43+3898_43+3939dupCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	130	0.0077	42	c.110 others(61): Show c.1102-6410_1102-6409insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB5_chr4_176208673_176274222	176218955	A A	AATATATA others(35): Show AATATATATTTGTATGATATATAAATATATATATTTGTATGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	262	0.0038	42	c.671 others(59): Show c.671-1988_671-1947dupATCATACAAATATATATATTTATATATC ATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72198365	G G	GGGGGAGG others(35): Show GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	171	0.0058	42	c.311 others(59): Show c.311-1377_311-1376insTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(35): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0157 a0002c0003t0002g0158	2	138	0.0145	42	c.530 others(61): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608724	A A	ATATACTT others(35): Show ATATACTTTATATATATATTTATACTTTATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0085 a0001c0002t0002g0086	2	311	0.0064	42	c.478 others(61): Show c.4786-1637_4786-1636insAATAAATATATATATAAAGTATAAAT ATATATATAAAGTATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASH1L_chr1_155330268_155567803	155411586	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	23	0.0435	42	c.600 others(61): Show c.6008+4157_6008+4158insATATATATATATATATATATATATAT ATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASIC1_chr12_50052596_50088611	50073904	T T	TAGGGGAC others(35): Show TAGGGGACCGCGTTGCTTATTACCTCAGCTACCCACACGTGAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	322	0.0031	42	c.559 others(59): Show c.559-3308_559-3267dupAGGGGACCGCGTTGCTTATTACCTCAGC TACCCACACGTGAC	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIP_chr20_34236423_34274344	34258688	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	284	0.0035	42	c.-10 others(59): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA TATATACATACATA	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1407077	A A	AGATGGAT others(35): Show AGATGGATGGGTGAACTGATGGTAGATGATGGGTAGATGGATG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19011.hp1 NA18988.hp1 NA19011.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0145 a0003c0002t0001g0147 a0003c0002t0001g0145 a0003c0002t0001g0147	2	183	0.0109	42	c.164 others(61): Show c.1646-3630_1646-3589dupCATCCATCTACCCATCATCTACCATC AGTTCACCCATCCATC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1449813	A A	ACAGTAAC others(35): Show ACAGTAACTATCCTCCCATCACCAGTAACTATCCCCACATCAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0001 a0005c0033t0001	a0005c0033t0001g0166 a0005c0033t0001g0166	1	183	0.0055	42	c.93+ others(57): Show c.93+2893_93+2934dupGTGATGTGGGGATAGTTACTGGTGATGGGA GGATAGTTACTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASNS_chr7_97846677_97877408	97872314	G G	GCGGGGCG others(35): Show GCGGGGCGCAGGGCGCGGGGCGCAGGGCGCGGGGCGCAGGGCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02818.hp1 HG00423.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0229 a0001c0001t0002g0230 a0001c0001t0001g0229 a0001c0001t0002g0230	2	426	0.0047	42	c.-60 others(55): Show c.-60+36_-60+37insTGCCCTGCGCCCCGCGCCCTGCGCCCCGCGCC CTGCGCCCCG	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	1/12			chr7	TogoVar
ASPG_chr14_104080700_104120582	104085504	A A	ACCCCGCC others(35): Show ACCCCGCCAGGCCCCGCCCCCATCCCGCCAGGCCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0220 a0002c0003t0009g0220	1	238	0.0042	42	c.-26 others(51): Show c.-267_-266insCCCCGCCAGGCCCCGCCCCCATCCCGCCAGGCCCCG CCCCGC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		195		chr14	TogoVar
ASRGL1_chr11_62332448_62398412	62362561	T T	TATAAAAT others(35): Show TATAAAATATATATTATATATTATATAATATATATTATATAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	314	0.0032	42	c.491 others(59): Show c.491+5417_491+5418insATAAAATATATATTATATATTATATAAT ATATATTATATAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362561	T T	TATAAAAT others(35): Show TATAAAATATATATTATATATTATATATTATATATTATATAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	314	0.0032	42	c.491 others(59): Show c.491+5417_491+5418insATAAAATATATATTATATATTATATATT ATATATTATATAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6			chr11	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG01515.hp1 others(4): Show HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG02451.hp2 NA19010.hp2 NA19012.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0016 a0007c0015	a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0005t0005 a0003c0016t0004 a0007c0015t0003	a0001c0001t0005g0077 a0001c0002t0001g0057 a0001c0002t0003g0066 others(4): Show a0001c0001t0005g0077 a0001c0002t0001g0057 a0001c0002t0003g0066 a0001c0002t0003g0094 a0001c0005t0005g0076 a0003c0016t0004g0027 a0007c0015t0003g0019	7	12	0.5833	42	c.159 others(61): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC ACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060434	G G	GGAAGGAA others(35): Show GGAAGGAAGGGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	95	0.0105	42	c.127 others(63): Show c.1277-20470_1277-20469insTTTTCTTTCTTTCTTTCTTTCTCT CTCTCTCTCCCTTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32376820	T T	TATTATAT others(35): Show TATTATATATTATATAAATATCATGATAGATATATAATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02572.hp1 others(4): Show HG01167.hp1 HG01884.hp1 HG02572.hp1 HG02622.hp2 HG03139.hp1 HG03139.hp2 NA20300.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0009 a0005c0021 a0003c0004 a0005c0009 a0005c0021	a0003c0004t0003 a0005c0009t0003 a0005c0021t0003 a0003c0004t0003 a0005c0009t0003 a0005c0021t0003	a0003c0004t0003g0099 a0005c0009t0003g0176 a0005c0009t0003g0177 others(4): Show a0003c0004t0003g0099 a0005c0009t0003g0176 a0005c0009t0003g0177 a0005c0009t0003g0178 a0005c0009t0003g0179 a0005c0009t0003g0180 a0005c0021t0003g0192	7	280	0.0250	42	c.252 others(59): Show c.252+7705_252+7746dupATTATATAAATATCATGATAGATATATA ATATATAATTATAT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18961.hp1 HG02027.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0205 a0001c0001t0004g0193 a0001c0001t0001g0205 a0001c0001t0004g0193	2	11	0.1818	42	c.58- others(57): Show c.58-3502_58-3501insATATATATATATATATATATATATATATAT ATATATATATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp2 HG01358.hp2 others(5): Show HG00323.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02970.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0008c0011	a0001c0001t0002 a0001c0001t0005 a0002c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0003 a0002c0002t0004 a0002c0006t0007 a0008c0011t0003	a0001c0001t0002g0171 a0001c0001t0005g0024 a0002c0002t0003g0068 others(5): Show a0001c0001t0002g0171 a0001c0001t0005g0024 a0002c0002t0003g0068 a0002c0002t0003g0114 a0002c0002t0003g0144 a0002c0002t0004g0125 a0002c0006t0007g0026 a0008c0011t0003g0218	8	108	0.0741	42	c.55- others(57): Show c.55-5799_55-5798insTATATATATATATATATATATATATATATA TATATATATATA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(35): Show GTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02280.hp2 HG02486.hp1 others(4): Show HG00558.hp2 HG02280.hp2 HG02486.hp1 HG03225.hp1 HG04184.hp1 NA18994.hp2 NA19065.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0009 a0001c0001 a0001c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0028 a0001c0005t0002 a0007c0009t0002	a0001c0001t0001g0040 a0001c0001t0002g0166 a0001c0001t0010g0153 others(4): Show a0001c0001t0001g0040 a0001c0001t0002g0166 a0001c0001t0010g0153 a0001c0001t0028g0189 a0001c0005t0002g0162 a0001c0005t0002g0163 a0007c0009t0002g0159	7	107	0.0654	42	c.55- others(57): Show c.55-5808_55-5807insTTATATATATATATATATATATATATATAT ATATATATATAT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04184.hp2 NA19006.hp2 HG02451.hp1 HG04184.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0114 a0001c0001t0003g0093 a0001c0001t0003g0108 a0001c0001t0002g0114 a0001c0001t0003g0093 a0001c0001t0003g0108	3	146	0.0205	42	c.163 others(59): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACACAC	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(35): Show AAGGAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03834.hp1 HG03453.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0003 a0001c0002t0003 a0002c0003t0003	a0001c0002t0003g0235 a0002c0003t0003g0138 a0001c0002t0003g0235 a0002c0003t0003g0138	2	176	0.0114	42	c.66 others(53): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCT TCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23760699	T T	TATATATA others(35): Show TATATATATACACACACACACACACACACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0238	1	76	0.0132	42	c.339 others(61): Show c.3394+1509_3394+1510insGTGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTATATATAT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	24/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23760699	T T	TATATATA others(35): Show TATATATATACACACACACACACACACACACACATATACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0235 a0001c0002t0003g0235	1	76	0.0132	42	c.339 others(61): Show c.3394+1509_3394+1510insGTGTGTATATGTGTGTGTGTGTGTGT GTGTGTGTATATATAT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	24/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18956.hp1 HG01981.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0017t0002 a0001c0001t0002 a0001c0017t0002	a0001c0001t0002g0026 a0001c0017t0002g0071 a0001c0001t0002g0026 a0001c0017t0002g0071	2	48	0.0417	42	c.320 others(59): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATCAY_chr19_3875685_3933082	3914235	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	47	0.0213	42	c.965 others(57): Show c.965+394_965+395insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATG16L1_chr2_233246673_233300669	233294003	G G	GATAAGGC others(35): Show GATAAGGCCTGACTGCCAGAGGGGCCAAACTCCCTTCATCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0268 a0002c0002t0010g0268	1	352	0.0028	42	c.173 others(59): Show c.1731-253_1731-212dupATAAGGCCTGACTGCCAGAGGGGCCAAA CTCCCTTCATCCCA	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0152	1	40	0.0250	42	c.208 others(63): Show c.2080-57419_2080-57418insATATATATATATATATATATATAT ATATATATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATOH1_chr4_93823753_93835964	93831406	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	455	0.0022	42	c.14 others(53): Show c.1415_*1416insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTT	ATOH1	ENSG00000172238.6	transcript	ENST00000306011.6	protein_coding		443		chr4	TogoVar
ATP2A1_chr16_28873488_28909466	28907543	C C	CCTGCTCA others(35): Show CCTGCTCAGCCTTCTAACTGCAGAGCTCCTGCCAAATGATCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0212 a0008c0012t0001g0212	1	378	0.0026	42	c.34 others(53): Show c.3401_*3402insCTGCTCAGCCTTCTAACTGCAGAGCTCCTGCCAA ATGATCCT	ATP2A1	ENSG00000196296.14	transcript	ENST00000395503.9	protein_coding		3078		chr16	TogoVar

Search by Variant

Search

Search Results