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.

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
ASAP1_chr8_130047104_130448674	130049778	A A	AACACATG others(34): Show AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0199 a0001c0001t0017g0199	1	308	0.0033	41	c.49 others(52): Show c.4952_*4953insCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2325		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049794	A A	AGGAGAAC others(34): Show AGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01192.hp2 HG00558.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0202 a0001c0001t0002g0089 a0001c0001t0002g0202	2	308	0.0065	41	c.49 others(52): Show c.4936_*4937insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGT GTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2309		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049806	G G	GGGGGCAG others(34): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 NA18943.hp2 NA18973.hp1 HG01978.hp2 NA18943.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0212 a0001c0001t0002g0044 a0001c0001t0002g0180 a0001c0001t0001g0212 a0001c0001t0002g0044 a0001c0001t0002g0180	3	308	0.0097	41	c.49 others(52): Show c.4924_*4925insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2297		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049847	G G	GGGGGCAG others(34): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0285 a0001c0005t0005g0285	1	308	0.0033	41	c.48 others(52): Show c.4883_*4884insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2256		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049847	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	308	0.0033	41	c.48 others(52): Show c.4883_*4884insATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2256		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGAGAACA others(34): Show GGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	308	0.0033	41	c.48 others(52): Show c.4853_*4854insTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATG TGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGAGAACA others(34): Show GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	308	0.0033	41	c.48 others(52): Show c.4853_*4854insTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGGGAACA others(34): Show GGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	308	0.0033	41	c.48 others(52): Show c.4853_*4854insTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATG TGTTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049992	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	308	0.0033	41	c.47 others(52): Show c.4738_*4739insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2111		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050025	G G	GGAACACA others(34): Show GGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	308	0.0033	41	c.47 others(52): Show c.4705_*4706insTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCA TGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2078		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050029	C C	CACATGGG others(34): Show CACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA21309.hp2 HG02055.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0288 a0001c0006t0005g0292	2	308	0.0065	41	c.47 others(52): Show c.4701_*4702insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2074		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050096	G G	GGGGGCAG others(34): Show GGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01192.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0149 a0001c0001t0002g0089 a0001c0001t0002g0149	2	308	0.0065	41	c.46 others(52): Show c.4634_*4635insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2007		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050158	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	308	0.0033	41	c.45 others(52): Show c.4572_*4573insATGTGTTCTCCTCTGCCCTCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1945		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050158	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01243.hp2 HG02965.hp2 others(4): Show HG00609.hp1 HG01243.hp2 HG02965.hp2 HG03942.hp2 NA18945.hp1 NA18951.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0063 a0002c0002t0001g0064 others(4): Show a0002c0002t0001g0014 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0081 a0002c0002t0001g0100 a0002c0002t0001g0240 a0002c0002t0001g0267	7	308	0.0227	41	c.45 others(52): Show c.4572_*4573insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1945		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	T T	TGGGGGCA others(34): Show TGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0166 a0001c0005t0001g0166	1	308	0.0033	41	c.45 others(52): Show c.4552_*4553insCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1925		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	T T	TGGGGGGC others(34): Show TGGGGGGCAGAGGGGAACACGGGGGGAAGAGGGGAACACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02280.hp2 HG02451.hp1 HG00423.hp2 HG02280.hp2 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0006 a0002c0003t0001 a0002c0002t0006 a0002c0003t0001	a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0003t0001g0023 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0003t0001g0023	3	308	0.0097	41	c.45 others(52): Show c.4552_*4553insCATGTGTTCCCCTCTTCCCCCCGTGTTCCCCTCT GCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1925		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0095 a0002c0002t0029g0095	1	308	0.0033	41	c.44 others(52): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGGCA others(34): Show GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG02738.hp1 HG00099.hp2 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0104 a0002c0002t0001g0105	2	308	0.0065	41	c.44 others(52): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTC TGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCTGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	308	0.0033	41	c.270 others(60): Show c.2701+3522_2701+3523insTGCGCGCGCAGCGCGCGCACGCACAC GCGCACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0201 a0001c0004t0005g0201	1	210	0.0048	41	c.127 others(60): Show c.127-25080_127-25079insAAAAAAATATATATATATATATATAT ATATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0195 a0001c0004t0005g0195	1	210	0.0048	41	c.268 others(60): Show c.2685-2272_2685-2271insATATATATATATATATATATATATAT ATATATATATTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASCC3_chr6_100503194_100886329	100608462	C C	CTTTATAT others(34): Show CTTTATATATATATTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02109.hp2 HG02165.hp2 others(5): Show HG00621.hp1 HG02109.hp2 HG02165.hp2 NA18962.hp2 NA18980.hp1 NA18998.hp2 NA19043.hp1 NA19054.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0009c0036	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002 a0009c0036t0002	a0001c0001t0001g0276 a0001c0002t0002g0089 a0001c0002t0003g0077 others(5): Show a0001c0001t0001g0276 a0001c0002t0002g0089 a0001c0002t0003g0077 a0001c0002t0003g0123 a0001c0002t0003g0130 a0002c0003t0002g0015 a0002c0003t0002g0066 a0009c0036t0002g0049	8	314	0.0255	41	c.478 others(60): Show c.4786-1375_4786-1374insATATATATATAAAGTATATATATATA AAATATATATATAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608462	C C	CTTTATAT others(34): Show CTTTATATATATATTTTATATATATATACTTTATGTATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0132 a0001c0002t0003g0132	1	314	0.0032	41	c.478 others(60): Show c.4786-1375_4786-1374insATATATACATAAAGTATATATATATA AAATATATATATAAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608550	A A	ATATATGT others(34): Show ATATATGTATACCTTATATATATACCTTATATATGTATACCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0288 a0003c0004t0001g0288	1	314	0.0032	41	c.478 others(60): Show c.4786-1463_4786-1462insAGGTATACATATATAAGGTATATATA TAAGGTATACATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASTN2_chr9_116418112_117420057	117016658	C C	CATATATA others(34): Show CATATATATAGGTTATATATATATGTTACATATATATAGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01081.hp2 others(9): Show HG00099.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01256.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG03017.hp1 HG03017.hp2 HG03540.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0023 a0004c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0001c0003t0006 a0001c0003t0014 a0001c0023t0002 a0004c0024t0013	a0001c0001t0001g0054 a0001c0001t0002g0040 a0001c0001t0003g0063 others(9): Show a0001c0001t0001g0054 a0001c0001t0002g0040 a0001c0001t0003g0063 a0001c0001t0004g0060 a0001c0002t0001g0058 a0001c0002t0003g0066 a0001c0002t0004g0091 a0001c0003t0003g0030 a0001c0003t0006g0026 a0001c0003t0014g0083 a0001c0023t0002g0069 a0004c0024t0013g0101	12	102	0.1177	41	c.142 others(60): Show c.1424-8400_1424-8399insAACCTATATATATGTAACATATATAT ATAACCTATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0021 a0001c0002t0003g0021	1	102	0.0098	41	c.127 others(60): Show c.1277-8999_1277-8998insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASZ1_chr7_117358222_117432493	117427613	C C	CTGCTCTC others(34): Show CTGCTCTCCTCCCTGCCCCGTCCCTCCCTAACCTTGAGGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	306	0.0033	41	c.-19 others(50): Show c.-194_-154dupAAGCCTCAAGGTTAGGGAGGGACGGGGCAGGGAGGA GAGCA	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding		121		chr7	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	360	0.0028	41	c.163 others(58): Show c.163-5871_163-5870insACACACACACACACACACACACACACAC ACACACACACACA	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(34): Show AAGGAAGGAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	246	0.0041	41	c.66 others(52): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTT CCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	278	0.0036	41	c.320 others(58): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD3B_chr1_1466765_1502848	1497087	A A	AGCCTGGG others(34): Show AGCCTGGGCACGCAACGGTCCCATCGGAGAGCAGACCCCTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0151 a0001c0001t0033g0151	1	276	0.0036	41	c.12 others(52): Show c.1272_*1312dupCCTGGGCACGCAACGGTCCCATCGGAGAGCAGAC CCCTCGG	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	16/16	1313	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3B_chr1_1466765_1502848	1497105	T T	TCCCATCG others(34): Show TCCCATCGGAGAGCAGACCCCTCGGCCTGGGCATGCAACGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0026 a0002c0025t0026	a0002c0025t0026g0039 a0002c0025t0026g0039	1	276	0.0036	41	c.13 others(52): Show c.1312_*1313insCCTGGGCATGCAACGGGCCCATCGGAGAGCAGAC CCCTCGG	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	16/16	1313	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	226	0.0044	41	c.108 others(58): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCTTCTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	236	0.0042	41	c.-20 others(62): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112766906	A A	AGGATGTG others(34): Show AGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03704.hp1 HG03017.hp1 HG03704.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0018 a0001c0002 a0005c0018	a0001c0002t0001 a0005c0018t0001 a0001c0002t0001 a0005c0018t0001	a0001c0002t0001g0167 a0005c0018t0001g0168 a0001c0002t0001g0167 a0005c0018t0001g0168	2	254	0.0079	41	c.40- others(58): Show c.40-18228_40-18227insGATGTGGGGGCGTTGGGGGCCCCTGTGG GAAGGTGGGGAGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767031	T T	TGGGGGTG others(34): Show TGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0011 a0011	a0011c0041 a0011c0041	a0011c0041t0001 a0011c0041t0001	a0011c0041t0001g0169 a0011c0041t0001g0169	1	254	0.0039	41	c.40- others(58): Show c.40-18099_40-18098insTGTTGGGGGCCCCTGTGGGAAGGTGGGG AGGATGTGGGGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767224	A A	AGGGTGTG others(34): Show AGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0249 a0003c0008t0005g0249	1	254	0.0039	41	c.40- others(58): Show c.40-17910_40-17909insGGTGTGGGAGTGCTGGGGGCCCCTGTGG GAAGGTGGGGAGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767263	A A	AGGGTGTG others(34): Show AGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0008 a0008	a0008c0035 a0008c0035	a0008c0035t0001 a0008c0035t0001	a0008c0035t0001g0187 a0008c0035t0001g0187	1	254	0.0039	41	c.40- others(58): Show c.40-17871_40-17870insGGTGTGGGAGTGCTGGGGGCCCCTGTGG GAAGGTGGGGAGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804303	T T	TCCCTCCT others(34): Show TCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp1 HG02273.hp2 others(3): Show HG00642.hp2 HG02004.hp1 HG02273.hp2 HG02738.hp1 HG03453.hp2 HG03516.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0021 others(1): Show a0001c0001 a0001c0004 a0001c0021 a0010c0037	a0001c0001t0001 a0001c0004t0003 a0001c0004t0006 others(2): Show a0001c0001t0001 a0001c0004t0003 a0001c0004t0006 a0001c0021t0024 a0010c0037t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0004t0003g0079 others(3): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0004t0003g0079 a0001c0004t0006g0228 a0001c0021t0024g0047 a0010c0037t0001g0076	6	254	0.0236	41	c.163 others(56): Show c.163-654_163-653insCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804416	T T	TCCCTCCT others(34): Show TCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp2 HG01243.hp2 HG00738.hp2 HG01169.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0068 a0001c0001t0001g0108 a0001c0001t0001g0120	3	254	0.0118	41	c.163 others(56): Show c.163-541_163-540insCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03516.hp2 HG04184.hp1 others(6): Show HG01943.hp2 HG03516.hp2 HG04184.hp1 NA18747.hp2 NA18957.hp2 NA18965.hp1 NA18965.hp2 NA18977.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 a0001c0001t0001 a0001c0001t0014 a0002c0002t0001	a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0180 others(6): Show a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0225 a0001c0001t0001g0253 a0001c0001t0001g0363 a0001c0001t0014g0376 a0002c0002t0001g0057 a0002c0002t0001g0227	9	376	0.0239	41	c.157 others(60): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA TATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATGAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	376	0.0027	41	c.157 others(60): Show c.1572+2424_1572+2425insATTCATATATATATATATATATATAT ATATATATATATATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(34): Show CTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0197 a0001c0001t0044g0197	1	314	0.0032	41	c.182 others(58): Show c.182-6654_182-6653insAGAAAGAAAGAAAGAAAGAAAGGAAGGA AGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50085971	G G	GATATATA others(34): Show GATATATATCATATATATATATGATATATATCATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0079 a0003c0003t0002g0079	1	254	0.0039	41	c.29- others(58): Show c.29-11787_29-11786insATATATATATGATATATATCATATATAT ATATGATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0074 a0001c0025t0001g0074	1	298	0.0034	41	c.119 others(58): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79325888	G G	GTCCCCTC others(34): Show GTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18943.hp2 HG01358.hp2 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0078 a0002c0002t0002g0224 a0001c0001t0001g0078 a0002c0002t0002g0224	2	298	0.0067	41	c.177 others(60): Show c.1774-3166_1774-3126dupCTCACATGGTGTTAGGGTGTCATCTC TGTACCCTCCCTCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326079	C C	CCTCTGTA others(34): Show CCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02071.hp1 NA18944.hp1 others(1): Show HG00609.hp2 HG02071.hp1 NA18944.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0085	4	298	0.0134	41	c.177 others(60): Show c.1774-3022_1774-3021insTCTCTGTACCCTCCCTCCCCTCACAT GGTGTTAGGGTGTCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326079	C C	CCTCTGTA others(34): Show CCTCTGTACGCTCCCTCCCCTCACATGGTGTTAGGGTGTCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(2): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(2): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0170	5	298	0.0168	41	c.177 others(60): Show c.1774-3054_1774-3053insGCTCCCTCCCCTCACATGGTGTTAGG GTGTCATCTCTGTAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326091	C C	TCCTCCCC others(34): Show TCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	298	0.0034	41	c.177 others(60): Show c.1774-3051_1774-3050insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326171	C C	CTCCCTCC others(34): Show CTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03654.hp1 NA20129.hp2 HG00741.hp2 HG03654.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0065	3	298	0.0101	41	c.177 others(60): Show c.1774-2930_1774-2929insTTCCCTCCCCTCACATGGTGTTAGGG TGTCATCTCTGTACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results (Total: 2600 hits)