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
GTF2F2_chr13_45115510_45289893	45191224	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	210	0.0048	29	c.305 others(48): Show c.305-16199_305-16198insATATATATATATATATATATATATAT ATA	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45212451	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	210	0.0048	29	c.386 others(46): Show c.386+4957_386+4958insTCTTTTCTTTTCTTTTCTTTTCTTTCTT T	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2F2_chr13_45115510_45289893	45228283	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	210	0.0048	29	c.386 others(48): Show c.386+20794_386+20795insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GTF2H5_chr6_158163350_158204344	158169437	T T	TATTATAT others(22): Show TATTATATATAATATATTGTATATTATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0063 a0001c0001t0039g0063	1	384	0.0026	29	c.-34 others(46): Show c.-34-1033_-34-1032insATTATATATAATATATTGTATATTATAT A	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GTF2IRD1_chr7_74448906_74607605	74568097	T T	TTTAGAGG others(22): Show TTTAGAGGTAGGAACAGCAGCTGCATGATC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG02886.hp1 others(1): Show HG01081.hp2 HG01891.hp2 HG02886.hp1 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0011 a0001c0001 a0001c0017 a0003c0011	a0001c0001t0001 a0001c0017t0001 a0003c0011t0002 others(1): Show a0001c0001t0001 a0001c0017t0001 a0003c0011t0002 a0003c0011t0006	a0001c0001t0001g0167 a0001c0017t0001g0051 a0003c0011t0002g0184 others(1): Show a0001c0001t0001g0167 a0001c0017t0001g0051 a0003c0011t0002g0184 a0003c0011t0006g0212	4	262	0.0153	29	c.232 others(48): Show c.2320+8445_2320+8473dupAGAGGTAGGAACAGCAGCTGCATGAT CTT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2IRD2B_chr7_75087590_75154817	75142187	G G	GCAGGGTC others(22): Show GCAGGGTCTCGCTCTGTCTCTCAGGCTGGA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	170	0.0059	29	c.103 others(46): Show c.1034-294_1034-266dupCAGGGTCTCGCTCTGTCTCTCAGGCTGG A	GTF2IRD2B	ENSG00000174428.19	transcript	ENST00000472837.7	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP10_chr7_90341716_90396453	90372482	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0068 a0003c0005t0012g0068	1	390	0.0026	29	c.538 others(44): Show c.538+269_538+270insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0175 a0001c0001t0006g0175	1	256	0.0039	29	c.199 others(50): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
H2AC4_chr6_26028092_26038618	26031178	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA19030.hp2 HG03942.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	406	0.0049	29	c.19 others(40): Show c.1997_*1998insATATATATATATATATATATATATATATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1913		chr6	TogoVar
H2AZ2_chr7_44826978_44853087	44843137	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	406	0.0025	29	c.81+ others(42): Show c.81+111_81+139dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	2/4			chr7	TogoVar
H3-3B_chr17_75771434_75784779	75782239	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	432	0.0023	29	c.-25 others(40): Show c.-2594_-2593insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	H3-3B	ENSG00000132475.10	transcript	ENST00000254810.8	protein_coding		2461		chr17	TogoVar
H3C2_chr6_26026589_26037099	26031178	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA19030.hp2 HG03942.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0009g0000	2	396	0.0051	29	c.47 others(38): Show c.471_*472insATATATATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		410		chr6	TogoVar
H4C12_chr6_27826174_27836560	27832868	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	29	c.-13 others(40): Show c.-1342_-1341insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		1309		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827865	T T	TTCTTTCT others(22): Show TTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	29	c.-48 others(40): Show c.-4820_-4819insTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4791		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031173	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	400	0.0025	29	c.-39 others(40): Show c.-3922_-3921insTATATATATATATATATATATATATATAT	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3891		chr6	TogoVar
H4C2_chr6_26021896_26032283	26031178	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA19030.hp2 HG03942.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	400	0.0050	29	c.-39 others(40): Show c.-3927_-3926insATATATATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3896		chr6	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(22): Show ACACACACACACACACACACCCCACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0106 a0001c0001t0015g0106	1	436	0.0023	29	c.-41 others(40): Show c.-4158_-4157insGGTGGGTGGGGTGTGTGTGTGTGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	326	0.0031	29	c.309 others(44): Show c.309+626_309+654dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	326	0.0031	29	c.975 others(46): Show c.975+1250_975+1251insATATATATATATATATATATATATTTTT T	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS1_chr18_46099385_46133333	46113075	C C	CATATTAT others(22): Show CATATTATATATATAATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	372	0.0027	29	c.206 others(46): Show c.206-5102_206-5101insTATATATATAATATATATATTCCATATA T	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(22): Show CTATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG03453.hp2 others(1): Show HG02809.hp1 HG02818.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0047 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0047	4	350	0.0114	29	c.-40 others(40): Show c.-4035_-4034insTATATATATATATATATATATATATATAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3999		chr15	TogoVar
HAX1_chr1_154267629_154280875	154277333	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02055.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0005 a0001c0001t0001g0012	2	392	0.0051	29	c.16 others(40): Show c.1632_*1633insATATATATATATATATATATATATATATA	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1459		chr1	TogoVar
HBM_chr16_160978_171764	164764	G G	GGTCGCGG others(22): Show GGTCGCGGGGCGGGGTCGCGGGGCGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	29	c.-12 others(40): Show c.-1234_-1233insGTCGCGGGGCGGGGTCGCGGGGCGGGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1213		chr16	TogoVar
HBQ1_chr16_175459_186179	181982	C C	CCACACAC others(22): Show CCACACACACCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	29	c.87 others(38): Show c.874_*875insCACACACACCACACACACACACACACACA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		804		chr16	TogoVar
HCN1_chr5_45249948_45701380	45374189	A A	ATACATTA others(22): Show ATACATTATATACATAACATATATATTATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0183 a0001c0001t0003g0158 a0001c0001t0003g0183	2	226	0.0089	29	c.123 others(50): Show c.1231-20972_1231-20944dupCATAATATATATGTTATGTATATA ATGTA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCRTR2_chr6_55169515_55287617	55226711	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG03225.hp2 HG02818.hp1 HG02922.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192	3	368	0.0082	29	c.224 others(48): Show c.224-21904_224-21903insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC11_chr3_13475306_13511416	13510962	A A	ACGAATGA others(22): Show ACGAATGAACCCATTTAAGCATCAGAACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	420	0.0024	29	c.62 others(40): Show c.6279_*6280insCGAATGAACCCATTTAAGCATCAGAACTG	HDAC11	ENSG00000163517.15	transcript	ENST00000295757.8	protein_coding		4547		chr3	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0012 a0002c0002t0004g0012	1	464	0.0022	29	c.-53 others(40): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	368	0.0027	29	c.188 others(46): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0077 a0002c0003t0001g0077	1	314	0.0032	29	c.591 others(48): Show c.5912-2422_5912-2421insATATATATATTTTTTTTTTTTTTTTT TTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0003 a0009c0025t0003	a0009c0025t0003g0004 a0009c0025t0003g0004	1	314	0.0032	29	c.591 others(48): Show c.5912-2422_5912-2421insATATATATATATTTTTTTTTTTTTTT TTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	314	0.0032	29	c.591 others(48): Show c.5912-2422_5912-2421insATATATATATATATTTTTTTTTTTTT TTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0233 a0001c0002t0006g0233	1	314	0.0032	29	c.591 others(48): Show c.5912-2422_5912-2421insATATATATATATATATTTTTTTTTTT TTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HECW2_chr2_196189072_196598554	196286401	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0030 a0001c0021t0030	a0001c0021t0030g0002 a0001c0021t0030g0002	1	112	0.0089	29	c.300 others(48): Show c.3000+6163_3000+6164insTATATATATATATATATATATATATA TAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	14/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196341275	G G	GAGTGATT others(22): Show GAGTGATTTTGCCAAAATCACTCCAAAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02145.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0004g0107 a0001c0001t0004g0110	2	112	0.0179	29	c.400 others(46): Show c.400+2353_400+2381dupTCCTTTGGAGTGATTTTGGCAAAATCAC T	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	3/28			chr2	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(22): Show CACACACACACACACACACTATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0050 a0007c0015t0050	a0007c0015t0050g0064 a0007c0015t0050g0064	1	362	0.0028	29	c.373 others(48): Show c.3733+2834_3733+2835insATATATATATAGTGTGTGTGTGTGTG TGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELB_chr12_66297493_66343199	66327064	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0211 a0002c0001t0002g0211	1	390	0.0026	29	c.267 others(48): Show c.2670+1938_2670+1939insTATATATATATATATATATATATATA TAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01934.hp1 others(1): Show HG01255.hp2 HG01358.hp1 HG01934.hp1 HG03486.hp1	a0002 a0016 a0002 a0016	a0002c0001 a0016c0021 a0002c0001 a0016c0021	a0002c0001t0002 a0016c0021t0001 a0002c0001t0002 a0016c0021t0001	a0002c0001t0002g0039 a0002c0001t0002g0207 a0016c0021t0001g0222 a0002c0001t0002g0039 a0002c0001t0002g0207 a0016c0021t0001g0222	4	390	0.0103	29	c.267 others(48): Show c.2670+1940_2670+1941insTATATATATATATATATATATATATA TAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HERPUD2_chr7_35627659_35700135	35632148	A A	AATTATAT others(22): Show AATTATATATAATATATAAATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0131	1	392	0.0026	29	c.15 others(40): Show c.1541_*1542insATATATTATATTTATATATTATATATAAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		510		chr7	TogoVar
HES7_chr17_8115592_8129106	8124174	C C	CCTCCTTC others(22): Show CCTCCTTCGACACCCAAGGTAGAGCTCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	446	0.0022	29	c.-91 others(36): Show c.-91_-90insTAGGAGCTCTACCTTGGGTGTCGAAGGAG	HES7	ENSG00000179111.9	transcript	ENST00000541682.7	protein_coding		69		chr17	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02886.hp1 HG01891.hp2 HG02257.hp1 HG02886.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0001c0001t0009 a0006c0011t0004 a0001c0001t0001 a0001c0001t0009 a0006c0011t0004	a0001c0001t0001g0144 a0001c0001t0009g0143 a0006c0011t0004g0142 a0001c0001t0001g0144 a0001c0001t0009g0143 a0006c0011t0004g0142	3	268	0.0112	29	c.-44 others(46): Show c.-44+5094_-44+5095insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210336287	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03831.hp2 HG04199.hp1 HG03704.hp1 HG03831.hp2 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0003 a0001c0002t0004 a0003c0004t0003 a0001c0001t0003 a0001c0002t0004 a0003c0004t0003	a0001c0001t0003g0138 a0001c0002t0004g0140 a0003c0004t0003g0137 a0001c0001t0003g0138 a0001c0002t0004g0140 a0003c0004t0003g0137	3	268	0.0112	29	c.-44 others(46): Show c.-44+7206_-44+7207insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99661421	A A	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0082 a0002c0006t0002g0082	1	374	0.0027	29	c.150 others(48): Show c.1502+1016_1502+1017insGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HIKESHI_chr11_86297240_86350943	86307153	T T	TTATGTGT others(22): Show TTATGTGTAATATACATCATATATCAAACA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19076.hp2 NA18984.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0277 a0001c0001t0001g0278	2	398	0.0050	29	c.268 others(44): Show c.268+698_268+699insCATATGTGTAATATACATCATATATCAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01978.hp1 HG02257.hp1 others(6): Show HG01258.hp2 HG01978.hp1 HG02257.hp1 HG02273.hp1 HG03239.hp2 HG03669.hp1 NA18967.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0187 a0001c0001t0002g0276	9	398	0.0226	29	c.268 others(48): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINT2_chr9_35807960_35820042	35819839	G G	GACATACT others(22): Show GACATACTTCTCTCTCATACTTCCCAAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 others(9): Show HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01167.hp2 HG01175.hp1 HG01496.hp1 HG01934.hp2 HG01975.hp1 HG02145.hp1 HG02698.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	12	420	0.0286	29	c.-48 others(40): Show c.-4861_-4860insGTCTTGGGAAGTATGAGAGAGAAGTATGT	HINT2	ENSG00000137133.11	transcript	ENST00000259667.6	protein_coding		4798		chr9	TogoVar
HIPK2_chr7_139556570_139782998	139587334	A A	ACCAAAAA others(22): Show ACCAAAAATTAGCCGGGAGTGGTGGTGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01884.hp2 others(1): Show HG01074.hp1 HG01109.hp2 HG01884.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0011 a0001c0007 a0001c0011	a0001c0007t0019 a0001c0007t0042 a0001c0011t0052 a0001c0007t0019 a0001c0007t0042 a0001c0011t0052	a0001c0007t0019g0096 a0001c0007t0019g0097 a0001c0007t0042g0100 others(1): Show a0001c0007t0019g0096 a0001c0007t0019g0097 a0001c0007t0042g0100 a0001c0011t0052g0073	4	154	0.0260	29	c.271 others(48): Show c.2718-3299_2718-3271dupCCCCACCACCACTCCCGGCTAATTTT TGG	HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	12/14			chr7	TogoVar
HIRA_chr22_19325698_19436733	19390601	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	364	0.0028	29	c.936 others(46): Show c.936+1499_936+1500insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	9/24			chr22	TogoVar
HIVEP1_chr6_12007312_12169999	12009120	T T	TGCGGCGG others(22): Show TGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	344	0.0029	29	c.-35 others(40): Show c.-3550_-3549insGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		3191		chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12167683	T T	TATAATAT others(22): Show TATAATATATATACATATATACATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01261.hp2 others(6): Show HG01070.hp1 HG01071.hp1 HG01261.hp2 HG02027.hp2 HG02056.hp2 HG02135.hp2 HG02683.hp2 HG02976.hp2 NA18978.hp2	a0001 a0005 a0027 a0001 a0005 a0027	a0001c0006 a0005c0008 a0027c0024 a0001c0006 a0005c0008 a0027c0024	a0001c0006t0003 a0005c0008t0001 a0027c0024t0001 a0001c0006t0003 a0005c0008t0001 a0027c0024t0001	a0001c0006t0003g0249 a0005c0008t0001g0053 a0005c0008t0001g0064 others(6): Show a0001c0006t0003g0249 a0005c0008t0001g0053 a0005c0008t0001g0064 a0005c0008t0001g0189 a0005c0008t0001g0194 a0005c0008t0001g0195 a0005c0008t0001g0196 a0005c0008t0001g0310 a0027c0024t0001g0324	9	344	0.0262	29	c.32 others(40): Show c.3222_*3223insATAATATATATACATATATACATATATGC	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2685		chr6	TogoVar

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