Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
H4C12_chr6_27826174_27836560	27826579	T T	TTCTACAC others(27): Show TTCTACACAGACACGGCAACCATCCGATTTCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 NA19043.hp1 HG02818.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	419	0.0048	34	c.46 others(45): Show c.4636_*4637insTTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		4594		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827865	T T	TTTCTTTC others(27): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	34	c.-48 others(45): Show c.-4820_-4819insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4791		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00597.hp1 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	400	0.0050	34	c.-39 others(45): Show c.-3901_-3900insTATATATATATATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
HACD3_chr15_65525463_65583349	65527131	A A	AAAATAAA others(27): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	328	0.0031	34	c.-35 others(45): Show c.-3501_-3500insAAATAAAATAAAATAAAATAAAATAAAATAAAAT	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding		3331		chr15	TogoVar
HACL1_chr3_15555699_15606569	15592239	T T	TATACATA others(27): Show TATACATACGTGTATATATGGATCCATATATACGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp1 HG01168.hp2 others(28): Show HG00544.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA18957.hp1 NA18972.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0035 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391	31	428	0.0724	34	c.228 others(49): Show c.228-560_228-559insGCGTATATATGGATCCATATATACACGTAT GTAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592239	T T	TATACATA others(27): Show TATACATACGTGTATATATGGATCCATATATATGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01928.hp1 others(30): Show HG00423.hp2 HG00639.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02148.hp1 HG02273.hp2 HG02300.hp2 HG03209.hp2 HG03942.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18960.hp2 NA18964.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18994.hp2 NA19000.hp1 NA19003.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0059 others(28): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0123 a0005c0010t0001g0083	33	428	0.0771	34	c.228 others(49): Show c.228-560_228-559insGCATATATATGGATCCATATATACACGTAT GTAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15592272	G G	GCATACAT others(27): Show GCATACATACGTGTATATATGGATCCATATATACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0385 a0001c0001t0001g0385	1	428	0.0023	34	c.228 others(49): Show c.228-593_228-592insTGTATATATGGATCCATATATACACGTATG TATG	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15593072	A A	AGTGTATA others(27): Show AGTGTATATATACACACACATATACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19011.hp1 NA19082.hp1 others(1): Show HG02698.hp1 NA19011.hp1 NA19082.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0002t0001g0333 a0001c0002t0001g0340 others(1): Show a0001c0001t0001g0107 a0001c0002t0001g0333 a0001c0002t0001g0340 a0001c0002t0001g0341	4	428	0.0094	34	c.228 others(51): Show c.228-1426_228-1393dupACACATATATGTATATGTGTGTGTATAT ATACAC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15600068	G G	GATAAAGA others(27): Show GATAAAGAATGTCATTCAATAAAGAATGTCATTCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02559.hp2 others(2): Show HG02257.hp1 HG02258.hp1 HG02559.hp2 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	5	428	0.0117	34	c.186 others(50): Show c.186+988_186+1021dupTGAATGACATTCTTTATTGAATGACATTC TTTAT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HAGH_chr16_1802629_1831825	1804244	C C	CTATATAT others(27): Show CTATATATATGTATGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG03239.hp1 HG02523.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0143 a0001c0004t0007g0144 a0001c0004t0007g0143 a0001c0004t0007g0144	2	436	0.0046	34	c.50 others(45): Show c.5038_*5039insTATATATATATATATACACACATACATATATATA	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		3384		chr16	TogoVar
HAO1_chr20_7877985_7945458	7909381	A A	ATATATAT others(27): Show ATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	348	0.0029	34	c.546 others(51): Show c.546-3053_546-3052insCATATATATATATATATATATATATACA TATATA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7909383	A A	ATATGTAT others(27): Show ATATGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	348	0.0029	34	c.546 others(51): Show c.546-3055_546-3054insCATATATATATATATATATATATATATA TACATA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7909383	A A	ATGTATAT others(27): Show ATGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	348	0.0029	34	c.546 others(51): Show c.546-3055_546-3054insCATATATATATATATATATATATATATA TATACA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO2_chr1_119363785_119399130	119389146	A A	ATATATAT others(27): Show ATATATATATATATGTATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG02896.hp1 others(5): Show HG01891.hp2 HG02809.hp2 HG02896.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG06807.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0010 a0002c0003t0002g0020 a0002c0003t0002g0021 others(1): Show a0002c0003t0002g0010 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0069	8	428	0.0187	34	c.771 others(51): Show c.771+2328_771+2329insGTATATATATATATATGTGTGTATATAT ATATAT	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HASPIN_chr17_3718903_3731699	3730454	A A	AAAAAAAA others(27): Show AAAAAAAAATAAAATAAAAAAAAAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0000 a0005c0007t0002g0000	2	414	0.0048	34	c.41 others(45): Show c.4122_*4123insAAAAAAAATAAAATAAAAAAAAAAATAAATAAAT	HASPIN	ENSG00000177602.5	transcript	ENST00000325418.5	protein_coding		3756		chr17	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CACAATAT others(27): Show CACAATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	350	0.0029	34	c.-40 others(45): Show c.-4031_-4030insACAATATATATATATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CACACACT others(27): Show CACACACTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 NA18522.hp1 HG02622.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0081 a0001c0001t0010g0080 a0001c0001t0010g0081	2	350	0.0057	34	c.-40 others(45): Show c.-4031_-4030insACACACTATATATATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TTATATAA others(27): Show TTATATAATGTATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02809.hp2 HG02970.hp2 others(1): Show HG01255.hp1 HG02809.hp2 HG02970.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0248 a0001c0001t0002g0277 others(1): Show a0001c0001t0002g0141 a0001c0001t0002g0248 a0001c0001t0002g0277 a0001c0001t0002g0279	4	350	0.0114	34	c.94- others(47): Show c.94-778_94-745dupGTATACATTGTATATAATGTATATTATATATA AT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HAVCR1_chr5_157024413_157064116	157044433	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0335 a0009c0009t0001g0335	1	352	0.0028	34	c.782 others(51): Show c.782-1752_782-1751insCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044575	C C	CAAGGAAA others(27): Show CAAGGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0337 a0007c0008t0001g0337	1	352	0.0028	34	c.782 others(51): Show c.782-1894_782-1893insCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCCTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAX1_chr1_154267629_154280875	154277309	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	392	0.0026	34	c.16 others(45): Show c.1608_*1609insATATATATATATATATATATATATATATATATAT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1435		chr1	TogoVar
HBA1_chr16_171680_182522	181982	C C	CCACACAC others(27): Show CCACACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18951.hp1 NA18940.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	398	0.0050	34	c.45 others(45): Show c.4571_*4572insCACACACACACACACACACACACACACACACACA	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		4461		chr16	TogoVar
HBM_chr16_160978_171764	164711	G G	GGCGGGGC others(27): Show GGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	34	c.-12 others(45): Show c.-1287_-1286insGCGGGGCGCGGTGCGGGCGGGGCGGGGCGGGGCC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1266		chr16	TogoVar
HBM_chr16_160978_171764	164759	G G	GGCGGGGT others(27): Show GGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	34	c.-12 others(45): Show c.-1239_-1238insGCGGGGTCGCGGGGCGGGGTCGCGGGGCGGGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1218		chr16	TogoVar
HBM_chr16_160978_171764	164884	G G	GTCGCGGG others(27): Show GTCGCGGGGCGGGGCGGGCCGGGCAGGGGCGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02258.hp2 HG02572.hp2 others(6): Show HG01106.hp2 HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02897.hp2 HG03225.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	9	370	0.0243	34	c.-11 others(45): Show c.-1114_-1113insTCGCGGGGCGGGGCGGGCCGGGCAGGGGCGGGGT	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1093		chr16	TogoVar
HBQ1_chr16_175459_186179	181982	C C	CCACACAC others(27): Show CCACACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	34	c.87 others(43): Show c.874_*875insCACACACACACACACACACACACACACACACACA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		804		chr16	TogoVar
HBQ1_chr16_175459_186179	184544	T T	TGACACAC others(27): Show TGACACACCTGTAATCCTAGTGCTTTGAGAGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	34	c.34 others(45): Show c.3436_*3437insGACACACCTGTAATCCTAGTGCTTTGAGAGGCTG	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		3366		chr16	TogoVar
HBQ1_chr16_175459_186179	185457	G G	GAAACTGC others(27): Show GAAACTGCACCGGGGGCATGAAGCTCAGTTTGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	34	c.43 others(45): Show c.4349_*4350insAAACTGCACCGGGGGCATGAAGCTCAGTTTGGTT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4279		chr16	TogoVar
HCLS1_chr3_121626399_121665903	121646447	T T	TTATATAT others(27): Show TTATATATTATATATGATATATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0160 a0003c0003t0002g0160	1	390	0.0026	34	c.288 others(49): Show c.288+838_288+871dupTATATTATATATTATATATCATATATAATA TATA	HCLS1	ENSG00000180353.11	transcript	ENST00000314583.8	protein_coding	4/13			chr3	TogoVar
HCN2_chr19_584881_622159	614020	A A	AGCGGGCC others(27): Show AGCGGGCCGGGGGCGTGGCCGGGGCGGGTGCCCTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0363 a0002c0010t0001g0363	1	408	0.0025	34	c.199 others(49): Show c.1990+10_1990+43dupCCGGGGGCGTGGCCGGGGCGGGTGCCCTGG CGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	614028	G G	GGGGGCGT others(27): Show GGGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0014 a0015 a0016 a0019	a0001c0001 a0001c0002 a0001c0003 others(53): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0014 a0001c0015 a0001c0018 a0001c0020 a0001c0024 a0001c0025 a0001c0026 a0001c0030 a0001c0034 a0001c0041 a0001c0042 a0001c0045 a0001c0046 a0001c0078 a0001c0091 a0001c0093 a0001c0094 a0001c0096 a0001c0098 a0001c0099 a0001c0101 a0001c0102 a0001c0113 a0001c0114 a0001c0118 a0001c0119 a0002c0004 a0002c0005 a0002c0010 a0002c0012 a0002c0016 a0002c0019 a0002c0027 a0002c0028 a0002c0035 a0002c0038 a0002c0051 a0002c0053 a0002c0054 a0002c0057 a0002c0058 a0003c0029 a0003c0089 a0004c0121 a0006c0047 a0014c0087 a0015c0086 a0016c0080 a0019c0122	a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 others(83): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0006t0006 a0001c0007t0007 a0001c0008t0002 a0001c0008t0004 a0001c0008t0007 a0001c0009t0002 a0001c0009t0010 a0001c0014t0003 a0001c0014t0024 a0001c0015t0005 a0001c0018t0020 a0001c0020t0004 a0001c0020t0008 a0001c0024t0002 a0001c0024t0003 a0001c0025t0004 a0001c0026t0004 a0001c0030t0004 a0001c0034t0004 a0001c0034t0005 a0001c0034t0026 a0001c0041t0001 a0001c0042t0004 a0001c0042t0008 a0001c0045t0003 a0001c0046t0002 a0001c0078t0008 a0001c0091t0011 a0001c0093t0003 a0001c0094t0001 a0001c0096t0003 a0001c0098t0006 a0001c0099t0004 a0001c0101t0008 a0001c0102t0005 a0001c0113t0006 a0001c0114t0004 a0001c0118t0011 a0001c0119t0010 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0006 a0002c0004t0007 a0002c0004t0017 a0002c0005t0003 a0002c0005t0004 a0002c0005t0009 a0002c0005t0025 a0002c0010t0002 a0002c0012t0004 a0002c0016t0006 a0002c0019t0003 a0002c0019t0004 a0002c0019t0018 a0002c0027t0003 a0002c0028t0001 a0002c0028t0004 a0002c0028t0005 a0002c0035t0005 a0002c0038t0005 a0002c0051t0011 a0002c0053t0002 a0002c0054t0004 a0002c0057t0002 a0002c0058t0012 a0003c0029t0004 a0003c0089t0003 a0004c0121t0004 a0006c0047t0003 a0014c0087t0005 a0015c0086t0005 a0016c0080t0004 a0019c0122t0004	a0001c0001t0002g0169 a0001c0001t0004g0068 a0001c0001t0004g0168 others(129): Show a0001c0001t0002g0169 a0001c0001t0004g0068 a0001c0001t0004g0168 a0001c0001t0004g0229 a0001c0001t0004g0387 a0001c0001t0021g0217 a0001c0002t0003g0009 a0001c0002t0003g0074 a0001c0002t0003g0094 a0001c0002t0003g0098 a0001c0002t0003g0127 a0001c0002t0003g0139 a0001c0002t0003g0142 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0154 a0001c0002t0003g0156 a0001c0002t0003g0162 a0001c0002t0003g0175 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0004g0080 a0001c0002t0004g0174 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0009g0116 a0001c0003t0002g0210 a0001c0003t0002g0372 a0001c0003t0004g0012 a0001c0003t0006g0201 a0001c0003t0007g0067 a0001c0003t0010g0196 a0001c0006t0006g0249 a0001c0007t0007g0222 a0001c0008t0002g0128 a0001c0008t0004g0228 a0001c0008t0004g0375 a0001c0008t0004g0385 a0001c0008t0007g0004 a0001c0009t0002g0241 a0001c0009t0010g0120 a0001c0014t0003g0076 a0001c0014t0003g0095 a0001c0014t0003g0096 a0001c0014t0003g0204 a0001c0014t0003g0215 a0001c0014t0024g0248 a0001c0015t0005g0007 a0001c0015t0005g0144 a0001c0018t0020g0058 a0001c0020t0004g0030 a0001c0020t0008g0010 a0001c0020t0008g0013 a0001c0024t0002g0014 a0001c0024t0003g0167 a0001c0024t0003g0177 a0001c0024t0003g0246 a0001c0025t0004g0059 a0001c0026t0004g0051 a0001c0030t0004g0234 a0001c0030t0004g0235 a0001c0030t0004g0378 a0001c0034t0004g0044 a0001c0034t0005g0035 a0001c0034t0026g0061 a0001c0041t0001g0019 a0001c0042t0004g0015 a0001c0042t0008g0112 a0001c0045t0003g0006 a0001c0046t0002g0037 a0001c0078t0008g0031 a0001c0091t0011g0380 a0001c0093t0003g0159 a0001c0094t0001g0369 a0001c0096t0003g0117 a0001c0098t0006g0064 a0001c0099t0004g0377 a0001c0101t0008g0024 a0001c0102t0005g0240 a0001c0113t0006g0042 a0001c0114t0004g0041 a0001c0118t0011g0060 a0001c0119t0010g0239 a0002c0004t0001g0342 a0002c0004t0002g0279 a0002c0004t0003g0341 a0002c0004t0004g0364 a0002c0004t0006g0353 a0002c0004t0007g0367 a0002c0004t0017g0259 a0002c0005t0003g0251 a0002c0005t0003g0258 a0002c0005t0003g0263 a0002c0005t0003g0272 a0002c0005t0003g0276 a0002c0005t0003g0321 a0002c0005t0003g0322 a0002c0005t0003g0326 a0002c0005t0003g0344 a0002c0005t0004g0282 a0002c0005t0009g0301 a0002c0005t0025g0352 a0002c0010t0002g0319 a0002c0012t0004g0256 a0002c0016t0006g0292 a0002c0019t0003g0333 a0002c0019t0004g0298 a0002c0019t0004g0368 a0002c0019t0018g0269 a0002c0027t0003g0297 a0002c0027t0003g0313 a0002c0027t0003g0351 a0002c0028t0001g0330 a0002c0028t0004g0284 a0002c0028t0005g0280 a0002c0035t0005g0343 a0002c0035t0005g0349 a0002c0038t0005g0338 a0002c0051t0011g0360 a0002c0053t0002g0300 a0002c0054t0004g0250 a0002c0057t0002g0260 a0002c0058t0012g0254 a0003c0029t0004g0104 a0003c0089t0003g0106 a0004c0121t0004g0236 a0006c0047t0003g0002 a0014c0087t0005g0220 a0015c0086t0005g0133 a0016c0080t0004g0386 a0019c0122t0004g0102	136	408	0.3333	34	c.199 others(49): Show c.1990+24_1990+57dupGGGGCGGGTGCCCTGGCGGGGGAGGGGCGT GGCC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	614028	G G	GGGGGCGT others(27): Show GGGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02015.hp1 HG01175.hp2 HG02015.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0012 a0001c0006 a0002c0012	a0001c0006t0002 a0002c0012t0013 a0001c0006t0002 a0002c0012t0013	a0001c0006t0002g0166 a0002c0012t0013g0265 a0001c0006t0002g0166 a0002c0012t0013g0265	2	408	0.0049	34	c.199 others(49): Show c.1990+45_1990+46insTGGGGCGTGGCCGGGGCGGGTGCCCTGGCG GGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	614029	G G	GGGGCGTG others(27): Show GGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0093 a0001c0002t0003g0093	1	408	0.0025	34	c.199 others(49): Show c.1990+46_1990+47insAGGGCGTGGCCGGGGCGGGTGCCCTGGCGG GGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	614044	C C	CGGGTGCC others(27): Show CGGGTGCCCTGGCGGGGGAGGGGCGTGGCCGGGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02258.hp2 others(7): Show HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02622.hp1 HG02818.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 NA21309.hp2	a0001 a0001	a0001c0018 a0001c0032 a0001c0041 others(5): Show a0001c0018 a0001c0032 a0001c0041 a0001c0077 a0001c0079 a0001c0082 a0001c0084 a0001c0108	a0001c0018t0022 a0001c0032t0004 a0001c0041t0001 others(5): Show a0001c0018t0022 a0001c0032t0004 a0001c0041t0001 a0001c0077t0004 a0001c0079t0004 a0001c0082t0004 a0001c0084t0004 a0001c0108t0004	a0001c0018t0022g0039 a0001c0032t0004g0100 a0001c0032t0004g0374 others(7): Show a0001c0018t0022g0039 a0001c0032t0004g0100 a0001c0032t0004g0374 a0001c0032t0004g0381 a0001c0041t0001g0099 a0001c0077t0004g0382 a0001c0079t0004g0028 a0001c0082t0004g0208 a0001c0084t0004g0101 a0001c0108t0004g0043	10	408	0.0245	34	c.199 others(49): Show c.1990+57_1990+58insGGGGTGGGTGCCCTGGCGGGGGAGGGGCGT GGCC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0045 a0001c0001t0019g0045	1	344	0.0029	34	c.62 others(45): Show c.6228_*6229insATATATATATATATATATATATATATATATATAT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCN4_chr15_73314859_73373958	73373775	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0006 a0009c0021t0006	a0009c0021t0006g0294 a0009c0021t0006g0294	1	344	0.0029	34	c.-55 others(45): Show c.-5506_-5505insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		4818		chr15	TogoVar
HDAC7_chr12_47777722_47824903	47803457	C C	CTGCCCCT others(27): Show CTGCCCCTCAAACCAGCCCATGCTTTGGGTAACAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0187 a0001c0005t0001g0187	1	380	0.0026	34	c.20- others(49): Show c.20-1217_20-1184dupTTGTTACCCAAAGCATGGGCTGGTTTGAGG GGCA	HDAC7	ENSG00000061273.18	transcript	ENST00000080059.12	protein_coding	1/25			chr12	TogoVar
HDAC9_chr7_18490749_19007416	18732554	T T	TACACACA others(27): Show TACACACACGTGTATATATGTGCATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	156	0.0064	34	c.190 others(53): Show c.1909+4803_1909+4804insACGTGTATATATGTGCATGTGTATAT ACACACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732574	C C	CATGTGTA others(27): Show CATGTGTATATACACACACGTGTATATGTGTGCAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0127 a0001c0001t0009g0127	1	156	0.0064	34	c.190 others(53): Show c.1909+4863_1909+4896dupCACACACGTGTATATGTGTGCATATG TGTATATA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18932864	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0040 a0001c0001t0047g0040	1	156	0.0064	34	c.280 others(53): Show c.2804-2929_2804-2928insAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	314	0.0032	34	c.591 others(53): Show c.5912-2422_5912-2421insATATATATATATATATATATATATTT TTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18998.hp1 NA18962.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0217 a0001c0002t0001g0218	2	314	0.0064	34	c.591 others(53): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT TTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATAGA others(27): Show GAGATAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0009 a0002c0003t0003g0009	1	314	0.0032	34	c.321 others(51): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT CTATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02895.hp2 HG03490.hp1 others(2): Show HG01515.hp2 HG02895.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003	a0001c0004t0001g0069 a0002c0003t0001g0187 a0002c0003t0002g0170 others(2): Show a0001c0004t0001g0069 a0002c0003t0001g0187 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0003g0003	5	314	0.0159	34	c.321 others(51): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR6_chr17_60036008_60083921	60049007	T T	TATATAAT others(27): Show TATATAATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	250	0.0040	34	c.254 others(51): Show c.2547+572_2547+573insTATATATATATATATATATATATATATA TTATAT	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	16/19			chr17	TogoVar
HECTD1_chr14_31095117_31212793	31096670	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	342	0.0029	34	c.42 others(45): Show c.4259_*4260insATATATATATATATATATATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3446		chr14	TogoVar
HECTD1_chr14_31095117_31212793	31096676	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02109.hp1 HG02155.hp2 HG00558.hp1 HG02109.hp1 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0003 a0001c0002t0001 a0001c0009t0003	a0001c0002t0001g0294 a0001c0009t0003g0001 a0001c0009t0003g0004 a0001c0002t0001g0294 a0001c0009t0003g0001 a0001c0009t0003g0004	3	342	0.0088	34	c.42 others(45): Show c.4253_*4254insATATATATATATATATATATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3440		chr14	TogoVar
HECTD1_chr14_31095117_31212793	31096688	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	342	0.0029	34	c.42 others(45): Show c.4241_*4242insTTATATATATATATATATATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3428		chr14	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03098.hp1 HG03516.hp1 HG02735.hp2 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0026 a0001c0001 a0001c0002 a0001c0026	a0001c0001t0002 a0001c0002t0014 a0001c0026t0021 a0001c0001t0002 a0001c0002t0014 a0001c0026t0021	a0001c0001t0002g0065 a0001c0002t0014g0004 a0001c0026t0021g0038 a0001c0001t0002g0065 a0001c0002t0014g0004 a0001c0026t0021g0038	3	112	0.0268	34	c.313 others(51): Show c.3135+396_3135+397insATATATATATATATATATATATATATAT ATATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196598503	G G	GGCATCGG others(27): Show GGCATCGGGGCGGGCCCGGGGCCGGGGCGAGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0004 a0001c0023t0004	a0001c0023t0004g0016 a0001c0023t0004g0016	1	112	0.0089	34	c.-50 others(45): Show c.-5032_-5031insGCCGCTCGCCCCGGCCCCGGGCCCGCCCCGATGC	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding		4950		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)