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
GSPT1_chr16_11863128_11920956	11911854	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0003 a0003c0023t0003	a0003c0023t0003g0093 a0003c0023t0003g0093	1	372	0.0027	27	c.352 others(44): Show c.352+3488_352+3514dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	1/14			chr16	TogoVar
GSTO2_chr10_104264184_104309950	104293563	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02717.hp2 HG03195.hp1 others(6): Show HG01168.hp2 HG02717.hp2 HG03195.hp1 HG03453.hp1 NA18947.hp2 NA18970.hp2 NA18978.hp1 NA19012.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0043 a0001c0004t0005 others(1): Show a0001c0002t0002 a0001c0002t0043 a0001c0004t0005 a0001c0004t0007	a0001c0002t0002g0005 a0001c0002t0002g0091 a0001c0002t0002g0094 others(4): Show a0001c0002t0002g0005 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0043g0114 a0001c0004t0005g0235 a0001c0004t0007g0055	9	300	0.0300	27	c.469 others(44): Show c.469-3993_469-3992insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTDC1_chr2_143933068_144337512	144337440	G G	GAAAAGCT others(20): Show GAAAAGCTAGTATACTTAGCAACAAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02647.hp1 others(9): Show HG02055.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0006c0013t0045	a0001c0001t0001g0097 a0001c0001t0003g0003 a0001c0001t0003g0103 others(9): Show a0001c0001t0001g0097 a0001c0001t0003g0003 a0001c0001t0003g0103 a0001c0001t0005g0090 a0001c0001t0008g0104 a0001c0001t0009g0098 a0001c0001t0013g0096 a0001c0001t0019g0099 a0001c0001t0040g0102 a0001c0001t0042g0110 a0001c0001t0044g0095 a0006c0013t0045g0101	12	124	0.0968	27	c.-51 others(38): Show c.-5153_-5152insATCTTGTTGCTAAGTATACTAGCTTTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding		4929		chr2	TogoVar
GTF2F1_chr19_6374572_6398164	6391439	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	378	0.0027	27	c.132 others(42): Show c.132+436_132+462dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	GTF2F1	ENSG00000125651.14	transcript	ENST00000394456.10	protein_coding	3/12			chr19	TogoVar
GTF2F2_chr13_45115510_45289893	45191224	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02818.hp2 HG01496.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	210	0.0095	27	c.305 others(46): Show c.305-16199_305-16198insAAAAAAATATATATATATATATATAT A	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212446	T T	TTCTTGTT others(20): Show TTCTTGTTTCTTTCTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp1 HG02896.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0049 a0001c0001t0001g0057	2	210	0.0095	27	c.386 others(44): Show c.386+4941_386+4942insTCTTGTTTCTTTCTTTCTTTTCTTTTC	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7			chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212447	G G	GTTTCTTT others(20): Show GTTTCTTTCTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18974.hp2 NA19085.hp2 HG00609.hp1 NA18974.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0137 a0001c0002t0001g0165 a0001c0002t0001g0168	3	210	0.0143	27	c.386 others(44): Show c.386+4957_386+4958insTCTTTTCTTTTCTTTCTTTCTTTCTTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212462	T T	TTCTTTTC others(20): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02647.hp1 HG03669.hp1 HG02132.hp1 HG02647.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0208 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0208	3	210	0.0143	27	c.386 others(44): Show c.386+4957_386+4958insTCTTTTCTTTTCTTTTCTTTTCTTTTC	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7			chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG02132.hp1 others(8): Show HG01109.hp1 HG01175.hp2 HG02132.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03209.hp1 HG03579.hp1 HG03669.hp1 NA18945.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 others(8): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096	11	210	0.0524	27	c.386 others(46): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTTTT T	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H1_chr11_18317567_18372045	18367880	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0192 a0001c0001t0014g0192	1	370	0.0027	27	c.20 others(38): Show c.2011_*2012insAAAAAAAATATATATATATATATATAT	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding		836		chr11	TogoVar
GTF2IRD1_chr7_74448906_74607605	74558347	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0230 a0002c0003t0001g0230	1	262	0.0038	27	c.210 others(44): Show c.2108-510_2108-484dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	174	0.0058	27	c.-5- others(42): Show c.-5-9024_-5-9023insAAAAAAAAAAAAAAATATATATATATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	174	0.0058	27	c.-5- others(42): Show c.-5-9024_-5-9023insAAAAAAAAAAAAATATATATATATATA	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2I_chr7_74652718_74765692	74739024	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	174	0.0058	27	c.167 others(44): Show c.1678+945_1678+946insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF3C5_chr9_133025997_133063503	133054821	T T	TGAGCCCC others(20): Show TGAGCCCCAGGAGGGAGTGGCTCCCAGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA20905.hp1 HG04115.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0172 a0001c0001t0004g0040 a0001c0001t0004g0172	2	380	0.0053	27	c.116 others(42): Show c.1167+13_1167+14insAGCCCCAGGAGGGAGTGGCTCCCAGGG	GTF3C5	ENSG00000148308.18	transcript	ENST00000372097.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
GUCA1B_chr6_42178284_42199956	42188886	T T	TTCTATCT others(20): Show TTCTATCTATCATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp1 HG02735.hp2 others(2): Show HG02602.hp1 HG02683.hp1 HG02735.hp2 HG03704.hp1 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0128 a0001c0002t0001g0014 a0001c0002t0001g0128	5	418	0.0120	27	c.208 others(42): Show c.208-156_208-155insTAGATAGATAGATAGATGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCA1C_chr3_108902792_108958879	108912103	C C	CAATAATA others(20): Show CAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG00735.hp1 others(4): Show HG00423.hp1 HG00733.hp1 HG00735.hp1 HG01975.hp2 HG02165.hp1 HG02451.hp2 HG02976.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0225 a0001c0001t0001g0245 a0002c0002t0001g0051 a0003c0003t0001g0342 a0003c0003t0001g0343	7	374	0.0187	27	c.443 others(44): Show c.443-3895_443-3894insATTATTATTATTATTATTATTATTATT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108912122	A A	AATAATAA others(20): Show AATAATAATAATAATAATAATAATAATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG01109.hp2 HG01261.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0098 a0003c0003t0001g0099	2	374	0.0054	27	c.443 others(44): Show c.443-3914_443-3913insGATTATTATTATTATTATTATTATTAT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108939324	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0278 a0002c0002t0001g0278	1	374	0.0027	27	c.204 others(46): Show c.204+14234_204+14235insAAAAAAAAAAAAAAAAAAAAAAAAAA A	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0029 a0001c0001t0044g0029	1	256	0.0039	27	c.199 others(48): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY2C_chr12_14607632_14701599	14696999	A A	ATATATAT others(20): Show ATATATATATATATATATATATAAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	236	0.0042	27	c.-55 others(36): Show c.-552_-551insCACTTTATATATATATATATATATATA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding		401		chr12	TogoVar
GULP1_chr2_188286874_188600926	188563588	C C	CTAAATAT others(20): Show CTAAATATTTGGCCCACATATTTGGAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02886.hp2 HG01081.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0022 a0001c0001t0015 a0001c0001t0022	a0001c0001t0015g0066 a0001c0001t0022g0082 a0001c0001t0015g0066 a0001c0001t0022g0082	2	162	0.0124	27	c.400 others(44): Show c.400-5635_400-5609dupCATATTTGGAATTAAATATTTGGCCCA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYG1_chr3_148986540_149036775	149022498	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0343 a0001c0003t0004g0343	1	414	0.0024	27	c.609 others(44): Show c.609-1537_609-1536insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GYG1	ENSG00000163754.18	transcript	ENST00000345003.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
GZMK_chr5_55019256_55039570	55022347	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	464	0.0022	27	c.-19 others(38): Show c.-1976_-1975insCACACACACACACACACACACACACAC	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding		1908		chr5	TogoVar
H1-8_chr3_129538175_129556467	129555153	T T	TCGCCTCG others(20): Show TCGCCTCGTAAAGAGTACCTGGGTGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0111 a0001c0003t0001g0111	1	422	0.0024	27	c.38 others(38): Show c.3813_*3814insCGCCTCGTAAAGAGTACCTGGGTGTAG	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		3687		chr3	TogoVar
H2AC4_chr6_26028092_26038618	26031178	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG02976.hp1 HG01099.hp2 HG02486.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	3	406	0.0074	27	c.19 others(38): Show c.1997_*1998insATATATATATATATATATATATATATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1913		chr6	TogoVar
H2BN1_chr17_32890433_32911586	32911277	C C	CCCTGGGG others(20): Show CCCTGGGGGAACTCATCAGAGGCAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	426	0.0024	27	c.49 others(38): Show c.4904_*4905insCCTGGGGGAACTCATCAGAGGCAAAGT	H2BN1	ENSG00000290320.1	transcript	ENST00000704639.1	protein_coding		4692		chr17	TogoVar
H3C2_chr6_26026589_26037099	26031178	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02486.hp1 HG02976.hp1 HG01099.hp1 HG02486.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	396	0.0076	27	c.47 others(36): Show c.471_*472insATATATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		410		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827834	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03130.hp1 HG02074.hp1 HG02074.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	236	0.0127	27	c.-48 others(38): Show c.-4851_-4850insTTCTTTCTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4822		chr1	TogoVar
H4C14_chr1_149827657_149838052	149827865	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01346.hp2 HG00408.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	236	0.0085	27	c.-48 others(38): Show c.-4820_-4819insTTCTTTCTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4791		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031178	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02486.hp2 HG02976.hp1 HG01099.hp2 HG02486.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	400	0.0075	27	c.-39 others(38): Show c.-3927_-3926insATATATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3896		chr6	TogoVar
HACD2_chr3_123486554_123590053	123542146	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0091 a0001c0002t0005g0091	1	350	0.0029	27	c.293 others(46): Show c.293-13673_293-13672insTTTTTTTTTTTTTTTTTTTTTTTTTT T	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HADHB_chr2_26239939_26295465	26285739	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	290	0.0035	27	c.138 others(44): Show c.1389+186_1389+187insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(20): Show ACACACACACACACACACCCCACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01099.hp2 others(2): Show HG00438.hp2 HG00642.hp2 HG01099.hp2 HG01975.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0002 a0001c0001t0003g0112 a0001c0001t0015g0091 a0001c0001t0003g0002 a0001c0001t0003g0112 a0001c0001t0015g0091	5	436	0.0115	27	c.-41 others(38): Show c.-4158_-4157insGGTGGGTGGGGTGTGTGTGTGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(20): Show ACACACACACACACACACCCCACTCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0051 a0001c0001t0020g0051	1	436	0.0023	27	c.-41 others(38): Show c.-4158_-4157insGGTGAGTGGGGTGTGTGTGTGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAS2_chr8_121607116_121646440	121609768	C C	CTTACTCA others(20): Show CTTACTCAATTGCTATACATAGTGATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0206 a0001c0001t0014g0206	1	376	0.0027	27	c.43 others(38): Show c.4340_*4341insACATCACTATGTATAGCAATTGAGTAA	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding		2347		chr8	TogoVar
HAT1_chr2_171917461_171988686	171938075	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	326	0.0031	27	c.113 others(44): Show c.113-8633_113-8632insCTCTCTCTCTCTCTCTCTCTCTCTCTC	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	2/10			chr2	TogoVar
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	326	0.0031	27	c.309 others(42): Show c.309+628_309+654dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS1_chr18_46099385_46133333	46112998	A A	ATATATAT others(20): Show ATATATATGGAATATATATATTCCATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02451.hp1 others(6): Show HG00738.hp1 HG01884.hp1 HG02451.hp1 HG02809.hp2 HG03098.hp2 HG03453.hp1 HG03516.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0145 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0276 a0001c0001t0001g0277	9	372	0.0242	27	c.206 others(44): Show c.206-5175_206-5149dupGGAATATATATATTCCATATTATATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS1_chr18_46099385_46133333	46113007	G G	GAATATAT others(20): Show GAATATATATATTCCATATTACATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	372	0.0027	27	c.206 others(44): Show c.206-5154_206-5153insCATATATAATATATATATTCCATATTA	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS1_chr18_46099385_46133333	46113007	G G	GAATATAT others(20): Show GAATATATATATTCCATATTATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp2 others(94): Show HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp2 HG03225.hp1 HG03490.hp2 HG03834.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19075.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(74): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0263 a0005c0006t0001g0091 a0005c0006t0001g0095	97	372	0.2608	27	c.206 others(44): Show c.206-5128_206-5102dupTATATATATAATATATATATTCCATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42544838	C C	CTATATAT others(20): Show CTATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	350	0.0029	27	c.-40 others(38): Show c.-4035_-4034insTATATATATATATATATATATATATAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3999		chr15	TogoVar
HAUS8_chr19_17044729_17080452	17055143	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0181 a0006c0009t0001g0181	1	400	0.0025	27	c.787 others(42): Show c.787+717_787+718insATATATATATATATATATATATATTTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157056635	C C	CTCCCAAA others(20): Show CTCCCAAAGTGCTGGGATTACAGGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0304 a0003c0003t0001g0304	1	352	0.0028	27	c.47- others(42): Show c.47-1129_47-1103dupCACACCTGTAATCCCAGCACTTTGGGA	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar
HAX1_chr1_154267629_154280875	154277333	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02922.hp2 HG01891.hp2 HG02451.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	392	0.0077	27	c.16 others(38): Show c.1632_*1633insATATATATATATATATATATATATATA	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1459		chr1	TogoVar
HBM_chr16_160978_171764	164800	G G	GGCGGGGG others(20): Show GGCGGGGGTCGCGGGGCGGGGCGAGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 NA19000.hp1 HG03831.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	370	0.0054	27	c.-11 others(38): Show c.-1198_-1197insGCGGGGGTCGCGGGGCGGGGCGAGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1177		chr16	TogoVar
HCFC1R1_chr16_3017625_3028942	3023839	A A	AGGGCCGC others(20): Show AGGGCCGCAGGAGCTTTGGCTGGGTGCT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18968.hp2 NA18968.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0011 a0005c0006t0001g0011	1	412	0.0024	27	c.95+ others(36): Show c.95+7_95+8insAGCACCCAGCCAAAGCTCCTGCGGCCC	HCFC1R1	ENSG00000103145.11	transcript	ENST00000248089.8	protein_coding	1/3			chr16	TogoVar
HCN1_chr5_45249948_45701380	45301330	T T	TTTAGAAT others(20): Show TTTAGAATTTGTATACTAAAAAATGTAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp1 others(37): Show HG00099.hp2 HG00323.hp2 HG00558.hp1 HG01071.hp1 HG01081.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02897.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp1 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18942.hp2 NA18945.hp2 NA18980.hp2 NA18994.hp2 NA19001.hp2 NA19003.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19088.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0033 a0001c0001t0036 a0001c0001t0037 a0002c0002t0014	a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0105 others(37): Show a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0157 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0188 a0001c0001t0003g0215 a0001c0001t0005g0089 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0012g0064 a0001c0001t0012g0137 a0001c0001t0017g0081 a0001c0001t0019g0114 a0001c0001t0022g0080 a0001c0001t0033g0213 a0001c0001t0036g0186 a0001c0001t0037g0148 a0002c0002t0014g0222 a0002c0002t0014g0223	40	226	0.1770	27	c.161 others(46): Show c.1618+2268_1618+2269insTTACATTTTTTAGTATACAAATTCTA A	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	6/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373977	G G	GATACATA others(20): Show GATACATAATATAGATAATATATATTAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19003.hp2 NA18992.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0079 a0001c0001t0013g0078 a0001c0001t0013g0079	2	226	0.0089	27	c.123 others(48): Show c.1231-20732_1231-20731insATAATATATATTATCTATATTATG TAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373993	A A	AATATATA others(20): Show AATATATATTATATACATAATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	226	0.0044	27	c.123 others(48): Show c.1231-20774_1231-20748dupAATATATATTATGTATATAATATA TAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar

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Search Results (Total: 7463 hits)