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 (≤).

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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
DERA_chr12_15906332_16042381	15936957	T T	TGTCCTGT others(33): Show TGTCCTGTCCTGTCCTGTCCTGTCTTGTCCTGTCCCGTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	258	0.0039	40	c.32- others(57): Show c.32-19978_32-19977insTCCTGTCCTGTCCTGTCCTGTCTTGTCC TGTCCCGTCCCG	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(33): Show GGGTGGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	308	0.0033	40	c.67 others(51): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(33): Show GGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01517.hp1 HG01934.hp1 others(9): Show HG00544.hp1 HG01517.hp1 HG01934.hp1 HG02965.hp1 HG03834.hp1 NA18942.hp2 NA18957.hp2 NA18966.hp2 NA18981.hp2 NA19002.hp2 NA19056.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0108 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0002g0001 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0132	12	308	0.0390	40	c.67 others(51): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCCC CCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(33): Show GGGTGGGGGGGTGGGGGGGCGGTGGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	308	0.0033	40	c.67 others(51): Show c.6761_*6762insGCCTCCCCCACCCCCCCCACCGCCCCCCCACCCC CCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313736	G G	GCCTCCCC others(33): Show GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	40	c.28 others(51): Show c.2817_*2818insGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGCGCG GGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		847		chr8	TogoVar
DGCR2_chr22_19031286_19127412	19062779	A A	ACTCTCTC others(33): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0163 a0002c0002t0002g0163	1	344	0.0029	40	c.625 others(55): Show c.625+422_625+423insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19062802	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18946.hp2 NA19086.hp2 HG00558.hp2 NA18946.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0177 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0177	3	344	0.0087	40	c.625 others(55): Show c.625+399_625+400insTAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	392	0.0026	40	c.-28 others(51): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCGCGCGCGCGCACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 NA19066.hp1 HG01433.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0048 a0001c0002t0002g0002 a0001c0002t0002g0048	2	392	0.0051	40	c.-28 others(51): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCGCACACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	40	c.-28 others(51): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACACACACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01993.hp1 NA19090.hp2 HG01975.hp2 HG01993.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	392	0.0077	40	c.-28 others(51): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCGCACACACACACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	40	c.-28 others(51): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCACACACACACACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01099.hp2 others(9): Show HG00423.hp2 HG00544.hp2 HG01099.hp2 HG01496.hp1 HG01978.hp2 HG02027.hp2 HG02071.hp1 HG03654.hp1 NA18942.hp1 NA18955.hp1 NA18966.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	12	392	0.0306	40	c.-28 others(51): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACACACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGCGCTGCGCGCGCGGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	40	c.-28 others(51): Show c.-2845_-2844insGCATGCCGCGCGCGCAGCGCACACACACACACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01346.hp2 HG02148.hp2 others(10): Show HG00438.hp1 HG01346.hp2 HG02148.hp2 HG02572.hp2 HG02630.hp2 HG03239.hp1 HG03490.hp2 HG03834.hp1 NA18951.hp1 NA18970.hp2 NA18972.hp1 NA19005.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0002t0002g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0002t0002g0002 a0002c0003t0002g0004	13	392	0.0332	40	c.-28 others(51): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	40	c.-28 others(51): Show c.-2845_-2844insGCACACACACACACACACACACACACACACACAC ACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14211286	A A	ATGTGATA others(33): Show ATGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02055.hp2 HG02258.hp1 others(4): Show HG01978.hp2 HG02055.hp2 HG02258.hp1 HG02630.hp2 HG03195.hp1 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0004 a0001c0003t0005 others(2): Show a0001c0002t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0004t0001	a0001c0002t0001g0096 a0001c0003t0004g0009 a0001c0003t0004g0012 others(4): Show a0001c0002t0001g0096 a0001c0003t0004g0009 a0001c0003t0004g0012 a0001c0003t0004g0083 a0001c0003t0005g0016 a0001c0003t0009g0004 a0001c0004t0001g0103	7	148	0.0473	40	c.212 others(61): Show c.2123-33136_2123-33135insCATGAGAGTAAAATCACAAAACAT GAGAGTAAATATCACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01070.hp2 others(2): Show HG00544.hp1 HG00544.hp2 HG01070.hp2 HG01496.hp1 HG02155.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0003c0006 a0001c0002 a0003c0004 a0003c0006	a0001c0002t0001 a0001c0002t0002 a0003c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0003c0004t0001 a0003c0006t0004	a0001c0002t0001g0145 a0001c0002t0002g0154 a0003c0004t0001g0013 others(2): Show a0001c0002t0001g0145 a0001c0002t0002g0154 a0003c0004t0001g0013 a0003c0004t0001g0026 a0003c0006t0004g0043	5	234	0.0214	40	c.182 others(61): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186302474	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATACATATGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0053 a0001c0010t0012g0053	1	234	0.0043	40	c.145 others(57): Show c.145-4285_145-4246dupCACATATGTATATATATATATATATATA TATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42053518	C C	CTATATAT others(33): Show CTATATATAACTATATATGTATATATATAACTATATATGTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02074.hp2 HG02083.hp1 others(11): Show HG00558.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG03017.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18991.hp1 NA19004.hp2 NA19012.hp2 NA19058.hp2 NA19077.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0010c0029	a0001c0001t0001 a0001c0002t0019 a0001c0002t0075 others(9): Show a0001c0001t0001 a0001c0002t0019 a0001c0002t0075 a0001c0003t0006 a0001c0004t0004 a0001c0004t0028 a0001c0004t0054 a0001c0008t0097 a0001c0010t0004 a0001c0010t0050 a0001c0010t0056 a0010c0029t0058	a0001c0001t0001g0299 a0001c0002t0019g0171 a0001c0002t0075g0176 others(11): Show a0001c0001t0001g0299 a0001c0002t0019g0171 a0001c0002t0075g0176 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0004t0004g0010 a0001c0004t0028g0074 a0001c0004t0054g0172 a0001c0008t0097g0195 a0001c0010t0004g0300 a0001c0010t0050g0301 a0001c0010t0056g0173 a0010c0029t0058g0298	14	316	0.0443	40	c.192 others(57): Show c.192+4591_192+4630dupGTATATATATAACTATATATGTATATAT ATAACTATATAT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42151515	G G	GTATATAT others(33): Show GTATATATATACACGTGTATATATATATATACACGTGTATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0122 a0001c0004t0122	a0001c0004t0122g0061 a0001c0004t0122g0061	1	316	0.0032	40	c.385 others(57): Show c.385-3772_385-3733dupATATATACACGTGTATATATATATATAC ACGTGTATATAT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGUOK_chr2_73921880_73963946	73923641	C C	CAAGAAAA others(33): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02818.hp2 others(3): Show HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0002g0006 a0001c0001t0002g0010 others(2): Show a0001c0001t0001g0200 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0189	6	352	0.0171	40	c.-32 others(51): Show c.-3270_-3269insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAA	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		3238		chr2	TogoVar
DHRS7B_chr17_21121964_21196420	21140479	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	382	0.0026	40	c.20+ others(57): Show c.20+13509_20+13548dupACACACACACACACACACACACACACAC ACACACACACAC	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRSX_chrX_2214506_2505976	2228034	A A	AAGGGAGG others(33): Show AAGGGAGGGAGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0013 a0003c0003t0002g0013	1	50	0.0200	40	c.805 others(57): Show c.805-6806_805-6805insCCCTCCCTCCCTCCCTTCCCCCCTCCCT CCCTCCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2264864	T T	TGCAGGGA others(33): Show TGCAGGGAGCACTGTACCCAGAGCACTTGTGCCAAGCACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG02922.hp2 others(2): Show HG02630.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 NA18522.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0010c0015	a0001c0001t0001 a0001c0001t0012 a0002c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0004 a0004c0004t0009 a0010c0015t0007	a0001c0001t0001g0026 a0001c0001t0012g0027 a0002c0002t0004g0035 others(2): Show a0001c0001t0001g0026 a0001c0001t0012g0027 a0002c0002t0004g0035 a0004c0004t0009g0032 a0010c0015t0007g0036	5	50	0.1000	40	c.596 others(57): Show c.596+1875_596+1876insGTGTGCTTGGCACAAGTGCTCTGGGTAC AGTGCTCCCTGC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2264864	T T	TGCAGGGA others(33): Show TGCAGGGAGCACTGTACGCAGAGCACTTGTGCCAAGCACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02004.hp2 HG02071.hp1 others(3): Show HG01496.hp1 HG02004.hp2 HG02071.hp1 HG02293.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0016 a0002c0002 a0003c0003 a0003c0016	a0002c0002t0002 a0003c0003t0002 a0003c0016t0002 a0002c0002t0002 a0003c0003t0002 a0003c0016t0002	a0002c0002t0002g0016 a0003c0003t0002g0013 a0003c0003t0002g0014 others(3): Show a0002c0002t0002g0016 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040	6	50	0.1200	40	c.596 others(57): Show c.596+1875_596+1876insGTGTGCTTGGCACAAGTGCTCTGCGTAC AGTGCTCCCTGC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2265120	T T	TCAGCAGA others(33): Show TCAGCAGACGCAGGGAGCACTGTCCCCAGAGCACCAGTGCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	50	0.0200	40	c.596 others(57): Show c.596+1619_596+1620insGGCACTGGTGCTCTGGGGACAGTGCTCC CTGCGTCTGCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2265120	T T	TCAGCAGA others(33): Show TCAGCAGACGCAGGGAGCACTGTCCCCAGAGCACCAGTGTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02004.hp2 HG02293.hp2 others(2): Show HG01496.hp1 HG02004.hp2 HG02293.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0016 a0003c0003 a0003c0016	a0003c0003t0002 a0003c0016t0002 a0003c0003t0002 a0003c0016t0002	a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 others(2): Show a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040	5	50	0.1000	40	c.596 others(57): Show c.596+1580_596+1619dupGACACTGGTGCTCTGGGGACAGTGCTCC CTGCGTCTGCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2265160	C C	CCAGCAGA others(33): Show CCAGCAGACGCAGGGAGCACTGTCCCCAGAGCACCAGTGCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG02004.hp1 others(7): Show HG00280.hp1 HG01496.hp2 HG02004.hp1 HG02300.hp1 HG02895.hp1 HG03491.hp2 HG04204.hp1 NA18612.hp1 NA18948.hp1 NA19070.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0008c0010	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(2): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0004c0004t0001 a0008c0010t0014	a0001c0001t0001g0049 a0002c0002t0003g0002 a0002c0002t0003g0008 others(7): Show a0001c0001t0001g0049 a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0050 a0002c0002t0004g0031 a0004c0004t0001g0048 a0008c0010t0014g0046	10	50	0.2000	40	c.596 others(57): Show c.596+1540_596+1579dupAGCACTGGTGCTCTGGGGACAGTGCTCC CTGCGTCTGCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2265360	T T	TCAGCAGA others(33): Show TCAGCAGACGCAGGGAGCACTGTCCCCAGAGCACCAGTGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG03098.hp1 others(1): Show HG02630.hp2 HG02922.hp2 HG03098.hp1 NA18522.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0010c0015	a0001c0001t0001 a0002c0002t0004 a0004c0004t0009 others(1): Show a0001c0001t0001 a0002c0002t0004 a0004c0004t0009 a0010c0015t0007	a0001c0001t0001g0026 a0002c0002t0004g0035 a0004c0004t0009g0032 others(1): Show a0001c0001t0001g0026 a0002c0002t0004g0035 a0004c0004t0009g0032 a0010c0015t0007g0036	4	50	0.0800	40	c.596 others(57): Show c.596+1340_596+1379dupTACACTGGTGCTCTGGGGACAGTGCTCC CTGCGTCTGCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2265381	G G	GTCCCCAG others(33): Show GTCCCCAGAGCACCAGTGTACAGCAGACGCAGGGAGCACTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	50	0.0200	40	c.596 others(57): Show c.596+1358_596+1359insTAGTGCTCCCTGCGTCTGCTGTACACTG GTGCTCTGGGGA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2298608	A A	ACACACAC others(33): Show ACACACACACACACACACACACACGCACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0007 a0010c0015t0007	a0010c0015t0007g0036 a0010c0015t0007g0036	1	50	0.0200	40	c.287 others(57): Show c.287-7006_287-7005insCGTGTGTGTGTGTGTGCGTGTGTGTGTG TGTGTGTGTGTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	374	0.0027	40	c.108 others(59): Show c.1081-1073_1081-1072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX57_chr2_38792729_38880934	38853044	G G	GTTTTCTT others(33): Show GTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02486.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0260 a0001c0001t0003g0135 a0001c0001t0002g0260 a0001c0001t0003g0135	2	284	0.0070	40	c.203 others(59): Show c.2030+1009_2030+1010insGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAA	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	9/23			chr2	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GAGATATA others(33): Show GAGATATATAGATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0292 a0002c0005t0005g0292	1	336	0.0030	40	c.118 others(57): Show c.118-3446_118-3445insATATATATATATATATATATATATATAT ATCTATATATCT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG03491.hp2 others(5): Show HG02257.hp2 HG03195.hp2 HG03491.hp2 HG04199.hp1 HG06807.hp1 NA18980.hp1 NA19003.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0300 a0001c0001t0016g0328	8	336	0.0238	40	c.118 others(57): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	147	0.0068	40	c.132 others(57): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185474	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATACACATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	147	0.0068	40	c.271 others(61): Show c.2719+43711_2719+43712insCACATATATATATATATATATATA TATATATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0045 a0002c0004t0002g0045	1	208	0.0048	40	c.180 others(57): Show c.180+6647_180+6648insAAAAAAAATATATATATATATATATATA TATATATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0036 a0002c0004t0001g0036	1	208	0.0048	40	c.180 others(57): Show c.180+6647_180+6648insAAAAAAAAAAAAAATATATATATATATA TATATATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62926586	G G	GCCCGGGC others(33): Show GCCCGGGCTGCGAAGCCCGGCCCCGGGCTGCGAAGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0031 a0031	a0031c0026 a0031c0026	a0031c0026t0001 a0031c0026t0001	a0031c0026t0001g0124 a0031c0026t0001g0124	1	320	0.0031	40	c.-34 others(49): Show c.-348_-347insGCCGGGCTTCGCAGCCCGGGGCCGGGCTTCGCAGCC CGGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		82		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 NA18956.hp1 NA18964.hp2 others(2): Show HG01106.hp2 NA18956.hp1 NA18964.hp2 NA19012.hp1 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0003 a0001c0001 a0001c0017 a0003c0003	a0001c0001t0001 a0001c0017t0001 a0003c0003t0001 a0001c0001t0001 a0001c0017t0001 a0003c0003t0001	a0001c0001t0001g0044 a0001c0017t0001g0107 a0003c0003t0001g0220 others(2): Show a0001c0001t0001g0044 a0001c0017t0001g0107 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0247	5	320	0.0156	40	c.-34 others(51): Show c.-3455_-3454insTATATATATATATATATATATATATATATATATA TATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATGTAT others(33): Show GTATGTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0246 a0003c0003t0001g0246	1	320	0.0031	40	c.-34 others(51): Show c.-3455_-3454insTATATATATATATATATATATATATATATATATA TACATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929695	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0017 a0017	a0017c0049 a0017c0049	a0017c0049t0002 a0017c0049t0002	a0017c0049t0002g0125 a0017c0049t0002g0125	1	320	0.0031	40	c.-34 others(51): Show c.-3457_-3456insTATATATATATATATATATATATATATATATATA TATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3191		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593722	T T	TCTCCTCT others(33): Show TCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0183 a0001c0002t0004g0229 a0001c0002t0004g0183 a0001c0002t0004g0229	2	284	0.0070	40	c.101 others(59): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCCTCTCCTCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593727	T T	TCTCCTCT others(33): Show TCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03710.hp1 HG02055.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0187 a0001c0002t0003g0228 a0001c0002t0003g0187 a0001c0002t0003g0228	2	284	0.0070	40	c.101 others(59): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCCCCTCCTCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593727	T T	TCTCCTCT others(33): Show TCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02155.hp2 HG02717.hp2 others(3): Show HG02056.hp1 HG02155.hp2 HG02717.hp2 NA18947.hp2 NA18957.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0249 a0001c0002t0003g0252 a0001c0002t0003g0265 others(3): Show a0001c0002t0003g0249 a0001c0002t0003g0252 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268	6	284	0.0211	40	c.101 others(59): Show c.101-32235_101-32234insCCTCCTCTCCTCTCCTCTCCCCTCCC CTCCTCTCCTCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593727	T T	TCTCCTCT others(33): Show TCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0092 a0001c0002t0039g0092	1	284	0.0035	40	c.101 others(59): Show c.101-32235_101-32234insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCCTCTCCTCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593732	T T	TCTCCCCT others(33): Show TCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0224 a0001c0002t0003g0224	1	284	0.0035	40	c.101 others(59): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCTCTCCTCTCCT CTCCCCTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(33): Show TCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	284	0.0035	40	c.101 others(59): Show c.101-32230_101-32229insTCTCCTCTCCTCTCCTCTCCCCTCCC CTCCCCTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 6641 hits)