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
HOMER2_chr15_82843983_82957720	82860977	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp1 HG00639.hp2 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0007 a0001c0003t0003g0011 a0001c0003t0003g0007 a0001c0003t0003g0011	2	348	0.0058	34	c.388 others(51): Show c.388-1843_388-1842insTTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82860978	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0342 a0002c0002t0001g0342	1	348	0.0029	34	c.388 others(51): Show c.388-1844_388-1843insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01928.hp1 HG02083.hp1 others(6): Show HG00639.hp1 HG01928.hp1 HG02083.hp1 HG02145.hp1 HG02895.hp2 HG02897.hp1 NA18950.hp2 NA18979.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(6): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0002g0076 a0001c0001t0002g0250	9	348	0.0259	34	c.295 others(51): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA TATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0077 a0001c0001t0001g0078	2	348	0.0058	34	c.295 others(51): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA TATAAA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOXA3_chr7_27102010_27157583	27114828	A A	ATATATAT others(27): Show ATATATATTATATATATTATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(51): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02155.hp1 HG02165.hp1 HG02300.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02970.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp2 HG06807.hp2 NA18940.hp1 NA18954.hp1 NA18960.hp1 NA18964.hp2 NA18968.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0070 others(46): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0206 a0001c0001t0004g0007 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0192 a0001c0001t0004g0203 a0001c0001t0006g0081 a0001c0001t0006g0091 a0001c0001t0007g0002 a0001c0001t0007g0023 a0001c0001t0010g0009 a0001c0001t0010g0078 a0001c0001t0010g0096 a0001c0001t0010g0101 a0001c0001t0011g0082 a0001c0001t0011g0090 a0001c0001t0011g0092 a0001c0001t0011g0093 a0001c0001t0011g0094 a0001c0001t0017g0079 a0001c0001t0018g0195 a0001c0001t0018g0201 a0001c0001t0018g0202	54	326	0.1656	34	c.-12 others(53): Show c.-120-4069_-120-4068insATATATATAATATATATAATATATAT AATATATA	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19007.hp1 HG02080.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0244 a0001c0001t0015g0305 a0001c0001t0002g0244 a0001c0001t0015g0305	2	326	0.0061	34	c.-39 others(49): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27151141	T T	TAAAGGAT others(27): Show TAAAGGATGAAAAAGGAAAGAATGAAAAAGAGAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	326	0.0031	34	c.-49 others(53): Show c.-494+1146_-494+1147insTTTCTCTTTTTCATTCTTTCCTTTTT CATCCTTT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	1/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA19007.hp1 HG02080.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	398	0.0050	34	c.18 others(45): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXA6_chr7_27140396_27152774	27151141	T T	TAAAGGAT others(27): Show TAAAGGATGAAAAAGGAAAGAATGAAAAAGAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	34	c.-33 others(45): Show c.-3393_-3392insTTTCTCTTTTTCATTCTTTCCTTTTTCATCCTTT	HOXA6	ENSG00000106006.6	transcript	ENST00000222728.3	protein_coding		3368		chr7	TogoVar
HOXC8_chr12_54003985_54017769	54014004	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	306	0.0033	34	c.26 others(45): Show c.2623_*2624insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1236		chr12	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(27): Show ATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02897.hp1 HG02572.hp2 HG02895.hp2 HG02897.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0003 a0001c0001t0001 a0001c0001t0003 a0003c0003t0003	a0001c0001t0001g0072 a0001c0001t0003g0075 a0003c0003t0003g0090 a0001c0001t0001g0072 a0001c0001t0003g0075 a0003c0003t0003g0090	3	142	0.0211	34	c.132 others(55): Show c.1320+34067_1320+34068insCACACACACACACATATATATATA TATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(27): Show ATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02897.hp2 HG02258.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0002 a0002c0002t0011	a0002c0002t0002g0076 a0002c0002t0011g0074 a0002c0002t0002g0076 a0002c0002t0011g0074	2	142	0.0141	34	c.132 others(55): Show c.1320+34067_1320+34068insCACACACACACACACATATATATA TATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HRH1_chr3_11149493_11268557	11166504	C C	CTTCTCCA others(27): Show CTTCTCCAGGCCCGTGACATCTGCTGTCTCCTGCA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	352	0.0028	34	c.-36 others(53): Show c.-36+11963_-36+11996dupGTGACATCTGCTGTCTCCTGCATTCT CCAGGCCC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11167091	T T	TGTGACAT others(27): Show TGTGACATCTGCTGTTCCCTGGATTCCCCAGGCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0311 a0002c0003t0008g0311	1	352	0.0028	34	c.-36 others(53): Show c.-36+12552_-36+12585dupTCCCTGGATTCCCCAGGCCCGTGACA TCTGCTGT	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH3_chr20_62209960_62225278	62224981	A A	AATGCCTC others(27): Show AATGCCTCAAAGAAGGTGCTGACAATGAACCAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	34	c.-50 others(45): Show c.-5012_-5011insCTCTGGTTCATTGTCAGCACCTTCTTTGAGGCAT	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		4704		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03669.hp1 NA18973.hp2 HG02818.hp2 HG03669.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0111 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0111	3	154	0.0195	34	c.124 others(53): Show c.124+61561_124+61562insATATATATATATATATATATATATAT ATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATGTAT others(27): Show GTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0118 a0001c0001t0029g0118	1	154	0.0065	34	c.124 others(53): Show c.124+61547_124+61548insGTATATATATATATATATATATATAT ATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST3A1_chr17_13489032_13606929	13512305	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0273 a0001c0006t0063g0273	1	338	0.0030	34	c.600 others(53): Show c.600-15488_600-15487insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp2 HG02698.hp1 others(7): Show HG01496.hp1 HG02273.hp2 HG02698.hp1 HG03710.hp2 HG04184.hp2 NA18956.hp1 NA18960.hp2 NA18998.hp2 NA19004.hp2 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0108 a0001c0001t0001g0153 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0108 a0001c0001t0001g0153 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0226 a0001c0001t0001g0259 a0001c0001t0001g0283 a0002c0002t0001g0351	10	394	0.0254	34	c.369 others(51): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT ATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0305 a0002c0002t0001g0305	1	394	0.0025	34	c.369 others(51): Show c.369+5125_369+5126insGTGTATATATATATATATATATATATAT ATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18940.hp2 NA18998.hp1 others(2): Show HG02135.hp2 NA18940.hp2 NA18998.hp1 NA19057.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0234 a0001c0001t0001g0243 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0277	5	394	0.0127	34	c.369 others(51): Show c.369+5125_369+5126insGTATATATATATATATATATATATATAT ATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272373	A A	ATCTCTCT others(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	374	0.0027	34	c.202 others(53): Show c.202-17431_202-17430insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0288 a0002c0002t0002g0288	1	374	0.0027	34	c.202 others(53): Show c.202-17463_202-17462insTATATATATATATATAGAGAGAGAGA GAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	374	0.0027	34	c.202 others(53): Show c.202-17463_202-17462insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	374	0.0027	34	c.202 others(53): Show c.202-17463_202-17462insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	374	0.0027	34	c.202 others(53): Show c.202-17463_202-17462insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18998.hp2 HG01167.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0209 a0002c0002t0002g0370 a0001c0001t0001g0209 a0002c0002t0002g0370	2	374	0.0054	34	c.202 others(53): Show c.202-17463_202-17462insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSF1_chr8_144286604_144319720	144313743	C C	CTCCCCGC others(27): Show CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	330	0.0030	34	c.124 others(51): Show c.1249-103_1249-102insTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCG	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12			chr8	TogoVar
HSF1_chr8_144286604_144319720	144313795	C C	CTCCCCGC others(27): Show CTCCCCGCGCCGCCCCGCCTCCCCGCCTCCCCGCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG02257.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0040 a0001c0001t0005g0041 a0001c0001t0001g0040 a0001c0001t0005g0041	2	330	0.0061	34	c.124 others(49): Show c.1249-44_1249-43insGCCGCCCCGCCTCCCCGCCTCCCCGCTTCC CCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA12A_chr10_116666192_116747566	116712977	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 NA18944.hp1 others(2): Show HG00438.hp1 HG00558.hp1 NA18944.hp1 NA18947.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0109 a0001c0001t0001g0186 a0001c0001t0003g0288 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0186 a0001c0001t0003g0288 a0001c0001t0004g0202 a0001c0001t0004g0212	5	320	0.0156	34	c.41- others(49): Show c.41-5726_41-5693dupATATATATATATATATATATATATATATAT ATAT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02300.hp2 NA18977.hp2 others(3): Show HG02109.hp1 HG02300.hp2 NA18977.hp2 NA19005.hp2 NA19058.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0041 others(1): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0041 a0001c0001t0053	a0001c0001t0003g0093 a0001c0001t0003g0114 a0001c0001t0003g0181 others(3): Show a0001c0001t0003g0093 a0001c0001t0003g0114 a0001c0001t0003g0181 a0001c0001t0019g0118 a0001c0001t0041g0122 a0001c0001t0053g0135	6	364	0.0165	34	c.909 others(51): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPA9_chr5_138548756_138580401	138579705	G G	GCGGCATT others(27): Show GCGGCATTAGAAAAGTCTAAGAGCTGAAATGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	302	0.0033	34	c.-43 others(45): Show c.-4388_-4387insTTTCCATTTCAGCTCTTAGACTTTTCTAATGCCG	HSPA9	ENSG00000113013.16	transcript	ENST00000297185.9	protein_coding		4305		chr5	TogoVar
HTR1F_chr3_87787706_87998839	87810700	A A	AAAAATGG others(27): Show AAAAATGGCTCAGTTGTTTCCTCTTTTACTGGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	250	0.0040	34	c.-15 others(55): Show c.-159-11306_-159-11273dupAAATGGCTCAGTTGTTTCCTCTTT TACTGGTGTA	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR1F_chr3_87787706_87998839	87920029	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	250	0.0040	34	c.-42 others(53): Show c.-42-70658_-42-70657insATATATATATATATATATATATATAT ATATATAT	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR2C_chrX_114579086_114915061	114741524	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19082.hp1 NA18961.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0131 a0001c0001t0001g0109 a0001c0001t0001g0131	2	176	0.0114	34	c.349 others(51): Show c.349+9942_349+9943insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR5A_chr7_155065324_155092392	155073893	A A	ATATATAC others(27): Show ATATATACATATATATATATGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01109.hp2 others(17): Show HG00642.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02055.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03453.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0009 a0001c0001t0013 a0001c0001t0049 others(3): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0049 a0001c0002t0009 a0001c0002t0011 a0001c0011t0009	a0001c0001t0009g0011 a0001c0001t0013g0069 a0001c0001t0013g0070 others(6): Show a0001c0001t0009g0011 a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0013g0071 a0001c0001t0049g0016 a0001c0002t0009g0010 a0001c0002t0011g0010 a0001c0002t0011g0016 a0001c0011t0009g0056	20	430	0.0465	34	c.741 others(51): Show c.741+2259_741+2260insCATATATATATATGTATATATATATGTG TATATA	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR5A_chr7_155065324_155092392	155073895	A A	ATATATGT others(27): Show ATATATGTATATATATATATGTATATATATATACG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0124 a0001c0004t0021g0124	1	430	0.0023	34	c.741 others(51): Show c.741+2260_741+2261insGTATATATATATATGTATATATATATAC GTATAT	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HTT_chr4_3069681_3248957	3227211	C C	CCCACCCC others(27): Show CCCACCCCTGCCCTGTCTGGGGCTGAAGTACAGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0056 a0004c0005t0001g0056	1	294	0.0034	34	c.784 others(53): Show c.7849-1376_7849-1343dupTACAGTGCCACCCCTGCCCTGTCTGG GGCTGAAG	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3227322	G G	GCCCTGTC others(27): Show GCCCTGTCTGGGGCTGAAGTACAGTGCCACCCCTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0005 a0005	a0005c0090 a0005c0090	a0005c0090t0002 a0005c0090t0002	a0005c0090t0002g0215 a0005c0090t0002g0215	1	294	0.0034	34	c.784 others(53): Show c.7849-1275_7849-1274insTACAGTGCCACCCCTTCCCTGTCTGG GGCTGAAG	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3227356	T T	TCCCTGTC others(27): Show TCCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0056 a0004c0005t0001g0056	1	294	0.0034	34	c.784 others(51): Show c.7849-805_7849-772dupGCTGAAGGACAGTGCCACCCCTGCCCTG TCTGGG	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
IAH1_chr2_9469551_9494742	9489259	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0107 a0001c0001t0053g0107	1	342	0.0029	34	c.95 others(43): Show c.954_*955insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	6/6	955	INFO_REALIGN_3_PRIME	chr2	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG06807.hp2 others(1): Show HG02965.hp2 HG03139.hp1 HG06807.hp2 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0044 a0002c0002t0002g0053 others(1): Show a0002c0002t0002g0015 a0002c0002t0002g0044 a0002c0002t0002g0053 a0002c0002t0002g0056	4	296	0.0135	34	c.372 others(51): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173684	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp2 HG03225.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0005c0007t0012 a0001c0001t0002 a0005c0007t0012	a0001c0001t0002g0272 a0005c0007t0012g0271 a0001c0001t0002g0272 a0005c0007t0012g0271	2	296	0.0068	34	c.372 others(51): Show c.3726-247_3726-246insGTATATATATATATATATATATATATAT ATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp2 HG02896.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0057 a0001c0001t0006 a0001c0001t0057	a0001c0001t0006g0274 a0001c0001t0057g0287 a0001c0001t0006g0274 a0001c0001t0057g0287	2	330	0.0061	34	c.-7- others(51): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02486.hp2 HG02976.hp2 others(2): Show HG00673.hp2 HG02486.hp2 HG02976.hp2 NA18940.hp2 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0024 a0001c0001t0038 others(1): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0038 a0002c0002t0054	a0001c0001t0003g0032 a0001c0001t0003g0048 a0001c0001t0024g0296 others(2): Show a0001c0001t0003g0032 a0001c0001t0003g0048 a0001c0001t0024g0296 a0001c0001t0038g0119 a0002c0002t0054g0324	5	330	0.0152	34	c.-7- others(51): Show c.-7-18688_-7-18687insCATATATATATATATATATATATATATA TATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8145764	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02818.hp1 others(1): Show HG01257.hp2 HG01258.hp2 HG02818.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0001t0002 a0001c0002t0008	a0001c0001t0002g0101 a0001c0001t0002g0181 a0001c0001t0002g0238 others(1): Show a0001c0001t0002g0101 a0001c0001t0002g0181 a0001c0001t0002g0238 a0001c0002t0008g0177	4	274	0.0146	34	c.805 others(51): Show c.805-1793_805-1792insCATATATATATATATATATATATATATA TATATA	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8263728	T T	TAGAAAAA others(27): Show TAGAAAAAAAAAAAAAAAAAAACAAAAAAACAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	274	0.0037	34	c.-17 others(45): Show c.-1715_-1714insTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTTTCT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding		1562		chr7	TogoVar
ICAM4_chr19_10281955_10293520	10292249	T T	TGCCAGGC others(27): Show TGCCAGGCAGCTGATCTGCAACGTCACCCTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	34	c.41 others(45): Show c.4145_*4146insGCCAGGCAGCTGATCTGCAACGTCACCCTGGGGG	ICAM4	ENSG00000105371.10	transcript	ENST00000380770.5	protein_coding		3730		chr19	TogoVar
ICE1_chr5_5417677_5495220	5494835	T T	TGCAGCCC others(27): Show TGCAGCCCCGCCCCCGCAGCCCCACCTCCGAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02451.hp1 others(3): Show HG01243.hp2 HG02109.hp2 HG02451.hp1 HG03041.hp1 NA19000.hp1 NA19058.hp2	a0003 a0008 a0003 a0008	a0003c0011 a0008c0010 a0008c0021 a0003c0011 a0008c0010 a0008c0021	a0003c0011t0001 a0008c0010t0001 a0008c0021t0001 a0003c0011t0001 a0008c0010t0001 a0008c0021t0001	a0003c0011t0001g0198 a0003c0011t0001g0199 a0008c0010t0001g0070 others(3): Show a0003c0011t0001g0198 a0003c0011t0001g0199 a0008c0010t0001g0070 a0008c0010t0001g0144 a0008c0010t0001g0219 a0008c0021t0001g0279	6	364	0.0165	34	c.55 others(45): Show c.5505_*5506insGCAGCCCCGCCCCCGCAGCCCCACCTCCGAACCC	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding		4616		chr5	TogoVar
IDE_chr10_92446684_92579093	92524489	T T	TATATTAT others(27): Show TATATTATATATTATATAATATATATTATATTATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	314	0.0032	34	c.661 others(51): Show c.661+7258_661+7259insTATAATATAATATATATTATATAATATA TAATAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar

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Search Results (Total: 7994 hits)