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
HPN_chr19_35036721_35071573	35048082	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	384	0.0026	36	c.17- others(51): Show c.17-1207_17-1206insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAGGA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(29): Show ATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0081 a0002c0002t0011g0081	1	142	0.0070	36	c.132 others(57): Show c.1320+34067_1320+34068insCACACACACACACACATATATATA TATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132146	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0006 a0002c0002t0012g0006	1	142	0.0070	36	c.610 others(55): Show c.610+12056_610+12091dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRG_chr3_186661014_186683234	186672921	A A	AGAGAAGA others(29): Show AGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAGGAAG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	472	0.0021	36	c.639 others(50): Show c.639+70_639+105dupGAGAAGGAGAAGGAGAGGAAGGAGAAGAAGG AGAAG	HRG	ENSG00000113905.5	transcript	ENST00000232003.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH3_chr20_62209960_62225278	62213390	G G	GGGAGGGA others(29): Show GGGAGGGAGAGCGGGATGGGGGAAGGGAGAGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	36	c.26 others(47): Show c.2615_*2616insTCCCTGCTCTCCCTTCCCCCATCCCGCTCTCCCT CC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1569		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA20752.hp2 HG01981.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0099 a0001c0001t0001g0079 a0001c0001t0001g0099	2	154	0.0130	36	c.124 others(55): Show c.124+61561_124+61562insATATATATATATATATATATATATAT ATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22913148	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0025 a0001c0006t0006g0025	1	350	0.0029	36	c.486 others(53): Show c.486-1793_486-1792insAAGGAAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGG	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	432	0.0023	36	c.555 others(55): Show c.555-15636_555-15635insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS6ST3_chr13_96085107_96844562	96304679	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	116	0.0086	36	c.707 others(57): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96381410	G G	GTATCTAT others(29): Show GTATCTATGTATCTATGTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG04204.hp2 HG01071.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0067 a0001c0001t0033g0044 a0001c0001t0001g0067 a0001c0001t0033g0044	2	116	0.0172	36	c.707 others(57): Show c.707+289848_707+289849insGTATCTATGTATCTATCTATCTAT CTATCTATCTAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD17B14_chr19_48808018_48841491	48816779	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18994.hp1 NA18944.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0281 a0001c0001t0001g0073 a0001c0001t0001g0281	2	394	0.0051	36	c.370 others(53): Show c.370-1674_370-1639dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19088.hp2 NA19091.hp1 HG02280.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0180 a0001c0001t0001g0275 a0001c0001t0001g0089 a0001c0001t0001g0180 a0001c0001t0001g0275	3	394	0.0076	36	c.369 others(53): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT ATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834449	G G	GCTGAGGT others(29): Show GCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01361.hp1 others(2): Show HG01123.hp2 HG01175.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0196 a0001c0001t0001g0197	5	394	0.0127	36	c.128 others(49): Show c.128-92_128-91insGCCCTACTTCCTCAGACCCAGGAGTCCAGACC TCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834457	C C	CCTGGACT others(29): Show CCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGAGGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19090.hp1 HG03834.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0307 a0002c0002t0001g0344 a0002c0002t0001g0307 a0002c0002t0001g0344	2	394	0.0051	36	c.128 others(50): Show c.128-100_128-99insACCTCAGCCCCTCTTCCCTCAGACCCAGGAG TCCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834457	C C	CCTGGACT others(29): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18994.hp2 NA18999.hp1 NA18947.hp1 NA18994.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0070 a0001c0001t0001g0117 a0001c0001t0001g0118	3	394	0.0076	36	c.128 others(51): Show c.128-135_128-100dupACCTCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834480	G G	GGAGGGGC others(29): Show GGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0313 a0002c0002t0001g0313	1	394	0.0025	36	c.128 others(51): Show c.128-123_128-122insTTCCCTCAGACCCAGGAGTCCAGACCTCAG CCCCTC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834641	C C	CCTGGACT others(29): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0359 a0002c0002t0001g0359	1	394	0.0025	36	c.128 others(51): Show c.128-284_128-283insACCTCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834641	C C	CTTGGACT others(29): Show CTTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03041.hp2 HG02109.hp1 HG02647.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0378 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0378	3	394	0.0076	36	c.128 others(51): Show c.128-284_128-283insACCTCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834707	G G	GCTGAGGT others(29): Show GCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp2 HG02630.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0360 a0002c0002t0001g0361	2	394	0.0051	36	c.128 others(51): Show c.128-350_128-349insGCCCTACTTCCTCGGACCCAGGAGTCCAGA CCTCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834818	G G	GCTGAGGT others(29): Show GCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02970.hp2 HG00735.hp1 HG01891.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323	3	394	0.0076	36	c.128 others(51): Show c.128-461_128-460insGCCCTACTTCCTCAGACCCAGGAGTCCAGA CCTCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835075	G G	GCTGAGGT others(29): Show GCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02970.hp2 others(1): Show HG00735.hp1 HG01891.hp2 HG02970.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 others(1): Show a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323	4	394	0.0102	36	c.128 others(51): Show c.128-718_128-717insGCCCTACTTCCTCGGACCCAGGAGTCCAGA CCTCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835112	G G	GCTGAGGT others(29): Show GCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0314 a0002c0002t0001g0314	1	394	0.0025	36	c.127 others(51): Show c.127+692_127+693insGCCCTACTTCCTCGGACCCAGGAGTCCAGA CCTCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835259	G G	GCTGAGGT others(29): Show GCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0314 a0002c0002t0001g0314	1	394	0.0025	36	c.127 others(51): Show c.127+545_127+546insGCCCTACTTCCTCGGACCCAGGAGTCCAGA CCTCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835296	G G	GCTGAGGT others(29): Show GCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02698.hp1 HG03579.hp2 others(2): Show HG02622.hp1 HG02698.hp1 HG03579.hp2 HG03669.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0348 a0002c0002t0001g0349 others(2): Show a0002c0002t0001g0029 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351	5	394	0.0127	36	c.127 others(51): Show c.127+508_127+509insGCCCTACTTCCTCGGACCCAGGAGTCCAGA CCTCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272373	A A	ATCTCTCT others(29): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA19000.hp2 HG02895.hp1 HG02897.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0312 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0312	3	374	0.0080	36	c.202 others(55): Show c.202-17431_202-17430insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0350 a0002c0002t0002g0350	1	374	0.0027	36	c.202 others(55): Show c.202-17463_202-17462insTATATATATATATATATATAGAGAGA GAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	374	0.0027	36	c.202 others(55): Show c.202-17463_202-17462insTATATATATATATATATAGAGAGAGA GAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	374	0.0027	36	c.202 others(55): Show c.202-17463_202-17462insTATATATATATATAGAGAGAGAGAGA GAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	374	0.0027	36	c.202 others(55): Show c.202-17463_202-17462insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0327 a0002c0002t0002g0327	1	374	0.0027	36	c.202 others(55): Show c.202-17463_202-17462insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSDL1_chr16_84117141_84150177	84131483	G G	GTCTGTCT others(29): Show GTCTGTCTGTCTGTCTGTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0052 a0001c0001t0010g0052	1	448	0.0022	36	c.-6- others(49): Show c.-6-157_-6-156insTAGATAGATAGATAGATAGACAGACAGACAGA CAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	2/5			chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(29): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03195.hp1 HG03195.hp2 others(1): Show HG02615.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0024 a0002c0002t0005 a0002c0002t0024	a0002c0002t0005g0047 a0002c0002t0005g0053 a0002c0002t0005g0068 others(1): Show a0002c0002t0005g0047 a0002c0002t0005g0053 a0002c0002t0005g0068 a0002c0002t0024g0050	4	448	0.0089	36	c.-35 others(47): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA GA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSFX2_chrX_149587512_149600314	149591512	C C	CGGAAGGA others(29): Show CGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03831.hp2 HG02055.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	279	0.0072	36	c.10 others(47): Show c.1079_*1080insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	HSFX2	ENSG00000268738.3	transcript	ENST00000598963.3	protein_coding		999		chrX	TogoVar
HSFX4_chrX_149924573_149936287	149933144	C C	CGGGCCTC others(29): Show CGGGCCTCAGTCACCTAGAGGTTAGGGGACTTTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	301	0.0033	36	c.20 others(47): Show c.2039_*2040insGGGCCTCAGTCACCTAGAGGTTAGGGGACTTTCC CA	HSFX4	ENSG00000283463.2	transcript	ENST00000457775.3	protein_coding		1858		chrX	TogoVar
HSPA12A_chr10_116666192_116747566	116712977	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	320	0.0031	36	c.41- others(51): Show c.41-5693_41-5692insATATATATATATATATATATATATATATAT ATATAT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(29): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0140 a0001c0001t0013g0140	1	320	0.0031	36	c.40+ others(53): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA12A_chr10_116666192_116747566	116732350	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0107 a0002c0005t0002g0107	1	320	0.0031	36	c.40+ others(53): Show c.40+10079_40+10080insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18983.hp2 NA18972.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0109 a0001c0001t0019g0090 a0001c0001t0003g0109 a0001c0001t0019g0090	2	364	0.0055	36	c.909 others(53): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPBAP1_chr3_122734999_122798831	122797845	T T	TGCTTTTT others(29): Show TGCTTTTTTTTTTTAATTTTAATTCTTTTGCGACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	350	0.0029	36	c.-41 others(47): Show c.-4166_-4165insCATGTCGCAAAAGAATTAAAATTAAAAAAAAAAA GC	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding		4015		chr3	TogoVar
HSPG2_chr1_21817244_21942310	21887131	G G	GGGCGGGG others(29): Show GGGCGGGGCAGGAGTGGAAGGCGGGGCAGGAGTGGAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01978.hp2 HG02280.hp2 others(6): Show HG01175.hp1 HG01978.hp2 HG02280.hp2 HG03834.hp2 NA18963.hp2 NA18990.hp1 NA19009.hp2 NA19067.hp1 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0071	a0001c0001 a0002c0017 a0002c0036 others(4): Show a0001c0001 a0002c0017 a0002c0036 a0004c0102 a0004c0106 a0004c0135 a0071c0116	a0001c0001t0001 a0002c0017t0013 a0002c0036t0002 others(4): Show a0001c0001t0001 a0002c0017t0013 a0002c0036t0002 a0004c0102t0001 a0004c0106t0001 a0004c0135t0001 a0071c0116t0001	a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0267 others(6): Show a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0267 a0002c0017t0013g0235 a0002c0036t0002g0118 a0004c0102t0001g0226 a0004c0106t0001g0230 a0004c0135t0001g0102 a0071c0116t0001g0229	9	310	0.0290	36	c.107 others(51): Show c.1078+83_1078+84insTTCCACTCCTGCCCCGCCTTCCACTCCTGC CCCGCC	HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding	9/96			chr1	TogoVar
HTR1D_chr1_23186895_23222502	23218508	T T	TTTGGTTG others(29): Show TTTGGTTGGTTGGTTGGTTGGTTTGTTGGTTGGTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG01169.hp2 others(15): Show HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01934.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0003 a0001c0001 a0001c0009 a0002c0003	a0001c0001t0004 a0001c0001t0033 a0001c0009t0004 others(1): Show a0001c0001t0004 a0001c0001t0033 a0001c0009t0004 a0002c0003t0004	a0001c0001t0004g0013 a0001c0001t0004g0032 a0001c0001t0004g0033 others(8): Show a0001c0001t0004g0013 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0033g0190 a0001c0009t0004g0224 a0002c0003t0004g0017	18	356	0.0506	36	c.-20 others(47): Show c.-2001_-2000insCCAACCAACCAACAAACCAACCAACCAACCAACC AA	HTR1D	ENSG00000179546.5	transcript	ENST00000374619.2	protein_coding		1007		chr1	TogoVar
HTR2C_chrX_114579086_114915061	114694492	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	176	0.0057	36	c.-79 others(55): Show c.-79-32365_-79-32364insTATATATATATATATATATATATATA TATACACACA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114741524	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03471.hp1 HG02074.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0158 a0001c0001t0001g0113 a0001c0001t0001g0158	2	176	0.0114	36	c.349 others(53): Show c.349+9942_349+9943insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR5A_chr7_155065324_155092392	155073891	A A	ATATATAT others(29): Show ATATATATATACATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02717.hp1 others(6): Show HG02451.hp2 HG02630.hp2 HG02717.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0037 others(3): Show a0001c0001t0016 a0001c0001t0019 a0001c0001t0037 a0001c0001t0055 a0001c0001t0059 a0001c0001t0063	a0001c0001t0016g0012 a0001c0001t0016g0074 a0001c0001t0019g0012 others(4): Show a0001c0001t0016g0012 a0001c0001t0016g0074 a0001c0001t0019g0012 a0001c0001t0037g0012 a0001c0001t0055g0073 a0001c0001t0059g0072 a0001c0001t0063g0012	9	430	0.0209	36	c.741 others(53): Show c.741+2261_741+2262insCATATATATATATGTATATATATATGTA TATATATA	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR5A_chr7_155065324_155092392	155073893	A A	ATATATAC others(29): Show ATATATACGTATATATATATATGTATATATATATACG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0122 a0001c0004t0021g0122	1	430	0.0023	36	c.741 others(53): Show c.741+2259_741+2260insCGTATATATATATATGTATATATATATA CGTATATA	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HTR5A_chr7_155065324_155092392	155073895	A A	ATATATAT others(29): Show ATATATATGTATATATATATATGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0123 a0001c0004t0021g0123	1	430	0.0023	36	c.741 others(53): Show c.741+2262_741+2263insGTATATATATATATGTATATATATATAC GTATATAT	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HUNK_chr21_31868020_32009064	31923523	G G	GAGGAAGG others(29): Show GAGGAAGGGAGGGAGGAAGGAAGGAAGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01433.hp2 others(19): Show HG00099.hp1 HG00438.hp1 HG01433.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02698.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp1 HG03942.hp1 NA18954.hp2 NA18960.hp1 NA18963.hp2 NA18967.hp2 NA18970.hp2 NA19070.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 others(7): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0016 a0001c0002t0022 a0001c0002t0045 a0001c0006t0024 a0002c0003t0003 a0002c0003t0004 a0002c0003t0039	a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 others(19): Show a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0322 a0001c0002t0002g0156 a0001c0002t0002g0211 a0001c0002t0002g0237 a0001c0002t0007g0135 a0001c0002t0016g0045 a0001c0002t0022g0093 a0001c0002t0045g0194 a0001c0006t0024g0175 a0002c0003t0003g0019 a0002c0003t0003g0128 a0002c0003t0003g0234 a0002c0003t0004g0159 a0002c0003t0004g0160 a0002c0003t0004g0229 a0002c0003t0004g0244 a0002c0003t0039g0094	22	328	0.0671	36	c.262 others(51): Show c.262-937_262-902dupGAGGGAGGAAGGAAGGAAGGAAAGAAGGAA GGAAGG	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HYCC1_chr7_22929211_23019130	23002164	A A	ACAATTAT others(29): Show ACAATTATATATATATATATATATATATATACACAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp1 HG03540.hp2 HG01081.hp2 HG02622.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0078 a0001c0001t0032 a0001c0001t0078	a0001c0001t0032g0047 a0001c0001t0032g0048 a0001c0001t0078g0049 a0001c0001t0032g0047 a0001c0001t0032g0048 a0001c0001t0078g0049	3	386	0.0078	36	c.-28 others(55): Show c.-28-11026_-28-11025insATTGTGTATATATATATATATATATA TATATAATTG	HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding	1/10			chr7	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0008 a0003c0060t0008	a0003c0060t0008g0031 a0003c0060t0008g0031	1	174	0.0058	36	c.884 others(53): Show c.8849+803_8849+804insAATATATATATATATATATATATATATA TATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp2 HG01258.hp1 others(1): Show HG01081.hp2 HG01256.hp2 HG01258.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0040 a0002c0002t0002g0042 others(1): Show a0002c0002t0002g0030 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0057	4	296	0.0135	36	c.372 others(53): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar

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