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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
HPSE2_chr10_98452077_99240852	98688465	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04184.hp1 NA19083.hp2 HG00423.hp1 HG04184.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0013 a0001c0001t0001 a0002c0002t0002 a0002c0002t0013	a0001c0001t0001g0039 a0002c0002t0002g0121 a0002c0002t0013g0046 a0001c0001t0001g0039 a0002c0002t0002g0121 a0002c0002t0013g0046	3	142	0.0211	28	c.100 others(47): Show c.1004+5434_1004+5435insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02895.hp1 NA18982.hp2 HG02135.hp2 HG02895.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0003g0069 a0001c0001t0004g0070 a0001c0001t0001g0020 a0001c0001t0003g0069 a0001c0001t0004g0070	3	142	0.0211	28	c.611 others(45): Show c.611-5892_611-5891insGTGTGTGTGTATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0132 a0001c0001t0024g0132	1	142	0.0070	28	c.611 others(45): Show c.611-5892_611-5891insGTATATATATATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98778264	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0056 a0002c0002t0010g0056	1	142	0.0070	28	c.611 others(47): Show c.611-34236_611-34209dupCTCTCTCTCTCTCTCTCTCTCTCTCT CT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98795019	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18962.hp1 HG02451.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0012 a0001c0001t0001 a0002c0002t0012	a0001c0001t0001g0117 a0002c0002t0012g0080 a0001c0001t0001g0117 a0002c0002t0012g0080	2	142	0.0141	28	c.611 others(47): Show c.611-50991_611-50964dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAGAGAGA others(21): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	142	0.0070	28	c.610 others(47): Show c.610+11996_610+11997insTTCTTTCTTTCTTTCTTTCTTTCTCT CT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRAS_chr11_527242_540576	530782	C C	CGAGTGTG others(21): Show CGAGTGTGGCGTCCCCTGGAGAGAAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02683.hp2 HG02083.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	397	0.0050	28	c.17 others(39): Show c.1745_*1746insCCCCTTCTCTCCAGGGGACGCCACACTC	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1459		chr11	TogoVar
HRAS_chr11_527242_540576	531006	C C	CGAGTGTG others(21): Show CGAGTGTGGCGTCCCCTGGACAGAAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG02055.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	2	397	0.0050	28	c.15 others(39): Show c.1521_*1522insCCCCTTCTGTCCAGGGGACGCCACACTC	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1235		chr11	TogoVar
HRAS_chr11_527242_540576	531034	G G	GGAGTGTG others(21): Show GGAGTGTGGCGTCCCCTGGAGAGAAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18963.hp2 NA18964.hp2 others(2): Show NA18948.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	397	0.0126	28	c.14 others(39): Show c.1493_*1494insGCCCTTCTCTCCAGGGGACGCCACACTC	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1207		chr11	TogoVar
HRAS_chr11_527242_540576	531054	G G	GAGAAGGG others(21): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02647.hp2 HG03098.hp1 HG01891.hp2 HG02647.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0018 a0002c0003t0001g0025 a0001c0002t0001g0018 a0002c0003t0001g0025	3	397	0.0076	28	c.14 others(39): Show c.1473_*1474insGTCCAGGGGACGCCACACTCGCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1187		chr11	TogoVar
HRH3_chr20_62209960_62225278	62213606	A A	ATGGGTGG others(21): Show ATGGGTGGGGGAAGGAGAGTGGGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG02965.hp2 others(2): Show HG01243.hp1 HG02559.hp1 HG02965.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0002 a0001c0002t0001g0006	5	368	0.0136	28	c.23 others(39): Show c.2399_*2400insCCCATCCCCACTCTCCTTCCCCCACCCA	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1353		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG02818.hp1 others(11): Show HG02486.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp2 HG03471.hp2 HG03579.hp1 HG04115.hp2 HG04184.hp1 NA18946.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0095 others(11): Show a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0129 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0130 a0001c0001t0010g0060 a0001c0001t0010g0061 a0001c0001t0010g0063 a0001c0001t0024g0084 a0001c0001t0025g0069 a0001c0001t0026g0058	14	154	0.0909	28	c.124 others(47): Show c.124+61561_124+61562insATATATATATATATATATATATATAT AT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	86990810	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0080 a0001c0001t0021g0080	1	154	0.0065	28	c.124 others(47): Show c.124+75651_124+75652insATATATATATATATATATATATATAT AT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 NA18974.hp1 HG00741.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0225 a0001c0001t0017g0305 a0001c0001t0001g0225 a0001c0001t0017g0305	2	440	0.0046	28	c.-10 others(39): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22818948	T T	TTCCCTCC others(21): Show TTCCCTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02145.hp1 others(11): Show HG01243.hp2 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0001t0001 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0216 a0001c0001t0001g0287 a0001c0001t0001g0288 others(11): Show a0001c0001t0001g0216 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0061 a0001c0004t0002g0149	14	350	0.0400	28	c.485 others(45): Show c.485+3856_485+3857insCTCCTTCCTTCCTTCCTTCCTTCCCTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819122	T T	TCCTTCCC others(21): Show TCCTTCCCTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(12): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02723.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0001t0001 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0216 a0001c0001t0001g0286 a0001c0001t0001g0287 others(12): Show a0001c0001t0001g0216 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0002t0001g0007 a0001c0002t0001g0061 a0001c0004t0002g0149 a0001c0004t0002g0291	15	350	0.0429	28	c.485 others(45): Show c.485+4033_485+4034insCTCCTTCCTTCCTCCCTCCCTCCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22913148	A A	AAGGGAGG others(21): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0042 a0007c0010t0001g0042	1	350	0.0029	28	c.486 others(45): Show c.486-1787_486-1760dupAGGGAGGGAGGGAGGGAGGGAGGGAGGG	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13512305	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0030 a0001c0001t0024g0030	1	338	0.0030	28	c.600 others(47): Show c.600-15488_600-15487insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560289	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04228.hp1 HG03654.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0070 a0001c0001t0014 a0001c0001t0070	a0001c0001t0014g0040 a0001c0001t0070g0295 a0001c0001t0014g0040 a0001c0001t0070g0295	2	338	0.0059	28	c.599 others(47): Show c.599+40214_599+40241dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0042 a0001c0006t0042	a0001c0006t0042g0003 a0001c0006t0042g0003	1	338	0.0030	28	c.599 others(47): Show c.599+15317_599+15344dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA19030.hp2 HG02896.hp2 HG02897.hp1 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0047 a0001c0007t0011g0048 a0001c0007t0011g0229 a0001c0007t0011g0047 a0001c0007t0011g0048 a0001c0007t0011g0229	3	432	0.0069	28	c.555 others(47): Show c.555-15636_555-15635insAGGAAGGAAGGAAGGAAGGAAGGAAG GA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25857919	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG00140.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	164	0.0122	28	c.734 others(49): Show c.734+164771_734+164772insCCTTCCTTTCTTTCTTTCTTTCTT TCTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25857919	C C	CCTTCCTT others(21): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19088.hp1 HG00735.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0068 a0001c0001t0016g0040 a0001c0001t0005g0068 a0001c0001t0016g0040	2	164	0.0122	28	c.734 others(49): Show c.734+164771_734+164772insCCTTTCTTTCTTTCTTTCTTTCTT TCTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25999764	A A	ATATATAT others(21): Show ATATATATTTATATATATTATATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	164	0.0061	28	c.735 others(49): Show c.735-135840_735-135813dupTTATATATATTATATATATTTTAT ATAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25999893	T T	TTATATAT others(21): Show TTATATATTTTATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	164	0.0061	28	c.735 others(49): Show c.735-135719_735-135718insTATATATTTTATATATATTATATA TATA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1			chr16	TogoVar
HS3ST4_chr16_25686959_26142685	26049327	G G	GTCCGGAG others(21): Show GTCCGGAGGTCTACATCCGGAGGTCTACA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19030.hp1 NA19005.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0002g0023 a0001c0001t0001g0115 a0001c0001t0002g0023	2	164	0.0122	28	c.735 others(47): Show c.735-86235_735-86208dupGTCTACATCCGGAGGTCTACATCCGG AG	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114341252	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02258.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0030 a0001c0001t0007 a0001c0001t0030	a0001c0001t0007g0044 a0001c0001t0030g0045 a0001c0001t0007g0044 a0001c0001t0030g0045	2	206	0.0097	28	c.-33 others(45): Show c.-339+942_-339+943insCCTCTCTCTCTCTCTCTCTCTCTCTCTC	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS6ST3_chr13_96085107_96844562	96112578	A A	AATATACA others(21): Show AATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	116	0.0086	28	c.707 others(47): Show c.707+21014_707+21015insCATATATATATATATATATATATATA TA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96286847	A A	ACCTTATT others(21): Show ACCTTATTAAGGTATAATTAATAATTATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0086 a0001c0001t0016g0086	1	116	0.0086	28	c.707 others(49): Show c.707+195284_707+195311dupTTAAGGTATAATTAATAATTATGC CTTA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96304679	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02895.hp1 HG01109.hp1 HG02647.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031	a0001c0001t0020g0032 a0001c0001t0029g0036 a0001c0001t0031g0030 a0001c0001t0020g0032 a0001c0001t0029g0036 a0001c0001t0031g0030	3	116	0.0259	28	c.707 others(49): Show c.707+213118_707+213145dupCTTTCTTTCTTTCTTTCTTTCTTT CTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96366448	C C	CAAATAAA others(21): Show CAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	116	0.0086	28	c.707 others(49): Show c.707+274906_707+274907insTAAATAAATAAATAAATAAATAAA TAAA	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(21): Show GTATCTATGTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG01261.hp1 others(11): Show HG00099.hp1 HG00621.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01993.hp1 HG02258.hp2 HG02293.hp2 HG02809.hp1 HG03098.hp2 HG03688.hp2 HG03834.hp2 NA18947.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0001t0034 a0002c0002t0005 a0002c0002t0027	a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 others(11): Show a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0007g0012 a0001c0001t0011g0058 a0001c0001t0017g0066 a0001c0001t0023g0071 a0001c0001t0034g0047 a0002c0002t0005g0061 a0002c0002t0027g0092	14	116	0.1207	28	c.707 others(49): Show c.707+289848_707+289849insGTATCTATCTATCTATCTATCTAT CTAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96706413	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0032 a0001c0001t0020g0032	1	116	0.0086	28	c.708 others(49): Show c.708-126076_708-126049dupTATATATATATATATATATATATA TATA	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(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01928.hp2 HG02273.hp2 others(7): Show HG01517.hp2 HG01928.hp2 HG02273.hp2 HG02895.hp1 HG02897.hp2 HG03139.hp2 HG03471.hp1 HG03831.hp2 NA18942.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0001c0001t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0108 others(7): Show a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0196 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0002c0002t0001g0320 a0002c0002t0001g0356 a0002c0003t0001g0368	10	394	0.0254	28	c.370 others(45): Show c.370-1666_370-1639dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG01106.hp1 others(21): Show HG00408.hp2 HG00642.hp2 HG01106.hp1 HG01123.hp1 HG01255.hp1 HG01978.hp2 HG02056.hp1 HG02074.hp2 HG02135.hp1 HG02273.hp1 HG02683.hp1 HG02698.hp2 HG03704.hp1 HG04184.hp1 NA18612.hp1 NA18943.hp2 NA18946.hp2 NA18954.hp1 NA18982.hp1 NA19007.hp1 NA19065.hp2 NA19066.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0091 a0001c0001t0001g0094 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0210 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0240 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0336	24	394	0.0609	28	c.369 others(45): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18747.hp1 NA18979.hp2 others(1): Show HG00140.hp1 NA18747.hp1 NA18979.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0080 a0001c0001t0001g0223 a0002c0002t0001g0303	4	394	0.0102	28	c.369 others(45): Show c.369+5125_369+5126insGTATATATATATATATATATATATATAT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272373	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19080.hp2 HG02683.hp2 NA19080.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0004 a0002c0002t0002 a0003c0003t0004	a0002c0002t0002g0301 a0003c0003t0004g0263 a0002c0002t0002g0301 a0003c0003t0004g0263	2	374	0.0054	28	c.202 others(47): Show c.202-17458_202-17431dupGAGAGAGAGAGAGAGAGAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	374	0.0027	28	c.202 others(47): Show c.202-17463_202-17462insTATATATATATATATATAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	374	0.0027	28	c.202 others(47): Show c.202-17463_202-17462insTATATATATATATATAGAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	374	0.0027	28	c.202 others(47): Show c.202-17463_202-17462insTATATATATATATAGAGAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18995.hp2 NA19043.hp2 HG00738.hp2 NA18995.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0148 a0001c0001t0001g0213 a0001c0001t0003g0251 a0001c0001t0001g0148 a0001c0001t0001g0213 a0001c0001t0003g0251	3	374	0.0080	28	c.202 others(47): Show c.202-17463_202-17462insTATATATATAGAGAGAGAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	374	0.0027	28	c.202 others(47): Show c.202-17463_202-17462insTATATATAGAGAGAGAGAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG02083.hp2 HG00673.hp2 HG00735.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0190 a0001c0001t0002g0311 a0001c0001t0003g0242 a0001c0001t0001g0190 a0001c0001t0002g0311 a0001c0001t0003g0242	3	374	0.0080	28	c.202 others(47): Show c.202-17463_202-17462insTATATAGAGAGAGAGAGAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00673.hp1 others(3): Show HG00558.hp2 HG00609.hp2 HG00673.hp1 HG04228.hp1 NA19007.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0115 others(3): Show a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0192 a0001c0001t0002g0295 a0001c0001t0003g0254	6	374	0.0160	28	c.202 others(47): Show c.202-17463_202-17462insTATAGAGAGAGAGAGAGAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03209.hp1 HG01496.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0167 a0001c0001t0001g0176	2	374	0.0054	28	c.202 others(47): Show c.202-17463_202-17462insTAGAGAGAGAGAGAGAGAGAGAGAGA GA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSDL1_chr16_84117141_84150177	84131483	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTGTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0059 a0001c0001t0013g0059	1	448	0.0022	28	c.-6- others(41): Show c.-6-157_-6-156insTAGATAGATAGATAGACAGACAGACAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	2/5			chr16	TogoVar
HSDL1_chr16_84117141_84150177	84131483	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTGTCTGTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0058 a0001c0001t0013g0058	1	448	0.0022	28	c.-6- others(41): Show c.-6-157_-6-156insTAGACAGACAGACAGACAGACAGACAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	2/5			chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(21): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0158 a0002c0002t0003g0158	1	448	0.0022	28	c.-35 others(39): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02895.hp1 HG02293.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0074 a0001c0001t0007g0084 a0001c0001t0001g0074 a0001c0001t0007g0084	2	448	0.0045	28	c.-35 others(39): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSF1_chr8_144286604_144319720	144313650	C C	CCGCCTCC others(21): Show CCGCCTCCCCGCGCCTCCCCGCCTCCCCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01256.hp2 others(5): Show HG01074.hp1 HG01106.hp1 HG01256.hp2 HG01952.hp2 NA19000.hp1 NA19005.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0092 a0001c0001t0001g0159 a0001c0001t0001g0209 others(5): Show a0001c0001t0001g0092 a0001c0001t0001g0159 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0002c0002t0001g0064 a0002c0002t0001g0069 a0002c0002t0001g0239	8	330	0.0242	28	c.124 others(43): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCGCCTCCCCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar

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