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
ABHD12B_chr14_50867053_50909970	50870908	C C	CAAGAAAG others(29): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0214 a0002c0002t0012g0214	1	376	0.0027	36	c.-12 others(47): Show c.-1267_-1266insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1144		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02738.hp1 NA18964.hp1 others(1): Show HG02717.hp1 HG02738.hp1 NA18964.hp1 NA18984.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0004c0009	a0001c0001t0001 a0002c0002t0002 a0002c0004t0002 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0004t0002 a0004c0009t0003	a0001c0001t0001g0046 a0002c0002t0002g0085 a0002c0004t0002g0008 others(1): Show a0001c0001t0001g0046 a0002c0002t0002g0085 a0002c0004t0002g0008 a0004c0009t0003g0168	4	376	0.0106	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG03486.hp1 NA19240.hp2 others(1): Show HG02080.hp2 HG03486.hp1 NA19240.hp2 NA20300.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0004 a0003c0003 a0004c0007 a0002c0004 a0003c0003 a0004c0007	a0002c0004t0005 a0003c0003t0001 a0004c0007t0001 a0002c0004t0005 a0003c0003t0001 a0004c0007t0001	a0002c0004t0005g0072 a0003c0003t0001g0062 a0004c0007t0001g0116 others(1): Show a0002c0004t0005g0072 a0003c0003t0001g0062 a0004c0007t0001g0116 a0004c0007t0001g0187	4	376	0.0106	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02818.hp2 HG03041.hp1 others(1): Show HG00673.hp1 HG02818.hp2 HG03041.hp1 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0006t0001 a0003c0003t0001 a0001c0001t0001 a0001c0006t0001 a0003c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0108 a0001c0006t0001g0073 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0108 a0001c0006t0001g0073 a0003c0003t0001g0146	4	376	0.0106	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0100 a0001c0001t0001g0038 a0001c0001t0001g0100	2	376	0.0053	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(29): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 NA18950.hp1 NA18983.hp2 others(1): Show HG01975.hp1 NA18950.hp1 NA18983.hp2 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0005t0004 a0003c0003t0001 a0001c0001t0001 a0001c0005t0004 a0003c0003t0001	a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0005t0004g0132 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0005t0004g0132 a0003c0003t0001g0325	4	376	0.0106	36	c.-11 others(47): Show c.-1192_-1191insAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(29): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA19077.hp1 NA18952.hp1 NA19077.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0016 a0001c0001 a0010c0016	a0001c0001t0001 a0010c0016t0002 a0001c0001t0001 a0010c0016t0002	a0001c0001t0001g0275 a0010c0016t0002g0266 a0001c0001t0001g0275 a0010c0016t0002g0266	2	376	0.0053	36	c.-11 others(47): Show c.-1192_-1191insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870990	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0268 a0001c0006t0001g0268	1	376	0.0027	36	c.-11 others(47): Show c.-1185_-1184insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG AG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1062		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0049	1	376	0.0027	36	c.-11 others(47): Show c.-1149_-1148insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA GG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322362	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03491.hp1 HG02257.hp2 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0192 a0001c0002t0002g0152 a0001c0002t0002g0192	2	316	0.0063	36	c.422 others(51): Show c.422+962_422+963insATATATATATATATATATATATATATATAT ATATAT	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0154 a0001c0002t0002g0154	1	316	0.0032	36	c.422 others(51): Show c.422+943_422+944insAAAAAAAATATATATATATATATATATATA TATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD2_chr15_89083456_89207355	89127706	C C	CATACATA others(29): Show CATACATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0229 a0001c0001t0031g0229	1	234	0.0043	36	c.194 others(55): Show c.194+11188_194+11189insCATATATATATATATATATATATATA CATATATATA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127724	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0009 a0001c0001t0039g0009	1	234	0.0043	36	c.194 others(55): Show c.194+11219_194+11220insATATATATATATATATATACATATAT ATATATATAT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GCATATAT others(29): Show GCATATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG06807.hp2 HG02559.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0284 a0001c0001t0001g0285	2	302	0.0066	36	c.837 others(53): Show c.837+1395_837+1396insCATATATATATATATATATATATATATA TGTATATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100940829	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0195 a0001c0005t0004g0195	1	238	0.0042	36	c.80- others(53): Show c.80-14349_80-14348insCTATATATATATATATATATATATATAT ATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	1/67			chr3	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	256	0.0039	36	c.982 others(51): Show c.982+778_982+779insTATATATATATATATATATATATATACACA CACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0109 a0001c0002t0040g0109	1	256	0.0039	36	c.982 others(51): Show c.982+778_982+779insTATATATATATATATATATATATACACACA CACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0113 a0001c0003t0088g0113	1	256	0.0039	36	c.982 others(51): Show c.982+778_982+779insTATATATATATATATATATACACACACACA CACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7973075	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA20905.hp1 HG01261.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0310 a0001c0002t0001g0182 a0001c0001t0002g0310 a0001c0002t0001g0182	2	322	0.0062	36	c.182 others(55): Show c.1825-6008_1825-5973dupCACACACACACACACACACACACACA CACACACACA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0246 a0001c0001t0011g0246	1	337	0.0030	36	c.67 others(47): Show c.6721_*6722insGTGTATGTATATATATATATATATATATATATAT AT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	1078104	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18983.hp1 HG02135.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0055 a0001c0001t0007g0324 a0001c0001t0006g0055 a0001c0001t0007g0324	2	337	0.0059	36	c.700 others(53): Show c.700+1225_700+1226insACACACACACACACACACACACACACAC ACACACAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143092	T T	TTCCTGGG others(29): Show TTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19005.hp2 HG00544.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0117 a0001c0001t0008g0042 a0001c0001t0003g0117 a0001c0001t0008g0042	2	337	0.0059	36	c.62- others(53): Show c.62-17761_62-17726dupGCGAGCTGCCCCCCAGGAGCGAGCTGTC CCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143200	T T	TTCCTGGG others(29): Show TTCCTGGGGGACAGCTCGCTCCTGGGGGGCAGCTCGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 NA19030.hp2 HG02258.hp1 HG02922.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0005 a0001c0001t0014 a0001c0009t0018 a0001c0001t0005 a0001c0001t0014 a0001c0009t0018	a0001c0001t0005g0279 a0001c0001t0014g0242 a0001c0009t0018g0102 a0001c0001t0005g0279 a0001c0001t0014g0242 a0001c0009t0018g0102	3	337	0.0089	36	c.62- others(53): Show c.62-17869_62-17834dupGCGAGCTGCCCCCCAGGAGCGAGCTGTC CCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0134 a0001c0003t0006g0134	1	299	0.0033	36	c.508 others(55): Show c.5080-1147_5080-1146insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	299	0.0033	36	c.507 others(55): Show c.5079+5239_5079+5240insAAAATATATATATATATATATATATA TATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	299	0.0033	36	c.507 others(55): Show c.5079+5239_5079+5240insAAAAAAAAAATATATATATATATATA TATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390308	A A	ATATATAT others(29): Show ATATATATATATTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	299	0.0033	36	c.38+ others(53): Show c.38+15953_38+15954insATATATATATATATATATATATATAATA TATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390312	A A	ATATATAT others(29): Show ATATATATATTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0148 a0001c0015t0001g0148	1	299	0.0033	36	c.38+ others(53): Show c.38+15949_38+15950insATATATATATATATATATATATATATAA TATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03239.hp1 NA18975.hp2 others(2): Show HG02080.hp1 HG03239.hp1 NA18975.hp2 NA18984.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0221 a0001c0001t0006g0189 a0001c0002t0001g0254 others(2): Show a0001c0001t0001g0221 a0001c0001t0006g0189 a0001c0002t0001g0254 a0001c0002t0001g0274 a0001c0005t0001g0222	5	299	0.0167	36	c.38+ others(53): Show c.38+15931_38+15932insGATATATATATATATATATATATATATA TATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0247 a0004c0014t0001g0247	1	299	0.0033	36	c.38+ others(53): Show c.38+15931_38+15932insGATAGATATATATATATATATATATATA TATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA20300.hp2 NA19011.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0124 a0003c0001 a0001c0124 a0003c0001	a0001c0124t0012 a0003c0001t0001 a0001c0124t0012 a0003c0001t0001	a0001c0124t0012g0197 a0003c0001t0001g0297 a0001c0124t0012g0197 a0003c0001t0001g0297	2	308	0.0065	36	c.787 others(51): Show c.787-242_787-241insATATATATATATATATATATATATATATAT ATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109209912	C C	CGTGTGTA others(29): Show CGTGTGTATATATGTGTATACACACATACACACACGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(10): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG02145.hp1 HG03239.hp2 HG03654.hp2 NA19060.hp2 NA20905.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0038	a0001c0002 a0001c0012 a0001c0034 others(7): Show a0001c0002 a0001c0012 a0001c0034 a0001c0050 a0001c0109 a0001c0111 a0006c0078 a0006c0120 a0007c0101 a0038c0082	a0001c0002t0001 a0001c0012t0002 a0001c0034t0001 others(7): Show a0001c0002t0001 a0001c0012t0002 a0001c0034t0001 a0001c0050t0001 a0001c0109t0002 a0001c0111t0001 a0006c0078t0001 a0006c0120t0003 a0007c0101t0002 a0038c0082t0002	a0001c0002t0001g0085 a0001c0002t0001g0098 a0001c0012t0002g0262 others(10): Show a0001c0002t0001g0085 a0001c0002t0001g0098 a0001c0012t0002g0262 a0001c0034t0001g0211 a0001c0034t0001g0212 a0001c0050t0001g0277 a0001c0050t0001g0278 a0001c0109t0002g0276 a0001c0111t0001g0275 a0006c0078t0001g0181 a0006c0120t0003g0043 a0007c0101t0002g0086 a0038c0082t0002g0127	13	308	0.0422	36	c.324 others(53): Show c.3249+615_3249+650dupCACACATACACACACGTGTGTGTATATA TGTGTATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACADL_chr2_210182923_210230447	210187035	T T	TTGAGTGG others(29): Show TTGAGTGGGGGGGGGGGGGGGGGGGGGGGGGGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	274	0.0037	36	c.19 others(47): Show c.1925_*1926insCTCACCCCCCCCCCCCCCCCCCCCCCCCCCCACT CA	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding		887		chr2	TogoVar
ACADL_chr2_210182923_210230447	210214467	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01516.hp2 HG02040.hp1 others(5): Show HG00423.hp1 HG01516.hp2 HG02040.hp1 HG02040.hp2 HG03831.hp2 NA18956.hp2 NA19007.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0162 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0198 a0002c0002t0001g0233	8	274	0.0292	36	c.536 others(53): Show c.536+1844_536+1879dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288210	T T	TCTGCTCC others(29): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG03688.hp2 NA18948.hp1 HG01257.hp1 HG03688.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0002t0002g0091 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0002t0002g0091	3	295	0.0102	36	c.53 others(47): Show c.5353_*5354insGGACACGGGACGGAGCAGGGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4180		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288233	T T	TCCGTCCC others(29): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA20300.hp1 NA18990.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0057 a0001c0001t0004g0006 a0001c0001t0001g0057 a0001c0001t0004g0006	2	295	0.0068	36	c.53 others(47): Show c.5330_*5331insGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4157		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288275	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	295	0.0034	36	c.52 others(47): Show c.5288_*5289insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288318	C C	CCTGCTCC others(29): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA19070.hp2 HG00735.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0014 a0001c0001t0001g0040	2	295	0.0068	36	c.52 others(47): Show c.5245_*5246insAGACACGGGACGGAGCAGAGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4072		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288347	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	295	0.0034	36	c.52 others(47): Show c.5216_*5217insACGGGGCAGAGACACGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4043		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288347	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	295	0.0034	36	c.52 others(47): Show c.5216_*5217insACGGAGCAGAGACACGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4043		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288391	C C	CTCTGCCC others(29): Show CTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	295	0.0034	36	c.51 others(47): Show c.5172_*5173insCACGGGACGGAGCAGGGACACGGGGGACGGGGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3999		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288409	C C	CTCTGCCC others(29): Show CTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	295	0.0034	36	c.51 others(47): Show c.5154_*5155insCACGGGACGGAGCAGGGACACGGGGGACGGGGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3981		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288410	C C	CCTGCTCC others(29): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	295	0.0034	36	c.51 others(47): Show c.5153_*5154insAGACACGGGACGGAGCAGAGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3980		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288433	T T	CCCGTCCC others(29): Show CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	295	0.0034	36	c.51 others(47): Show c.5131_*5132insGCAGAGACACGGGACGGAGCAGAGACACGGGACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3958		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	295	0.0034	36	c.51 others(47): Show c.5106_*5107insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3933		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	295	0.0034	36	c.50 others(47): Show c.5014_*5015insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 NA18522.hp1 HG02738.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0165 a0001c0013t0001g0047 a0001c0001t0001g0165 a0001c0013t0001g0047	2	295	0.0068	36	c.50 others(47): Show c.5014_*5015insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288557	C C	CTCTGCTC others(29): Show CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	295	0.0034	36	c.50 others(47): Show c.5006_*5007insCACGGGGGACGGAGCAGAGACACGGGACGGAGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3833		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288569	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	295	0.0034	36	c.49 others(47): Show c.4994_*4995insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3821		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288607	C C	CCCCGAGT others(29): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	295	0.0034	36	c.49 others(47): Show c.4956_*4957insACGGAGCAGAGACACGGGACGGAGCAGAGACTCG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3783		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)