JoGo: Joint Open Genome and Omics Platform

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
HIVEP3_chr1_41501365_41923922	41586514	G G	GAGCATCT others(20): Show GAGCATCTCTGTGCTTGCTTTTTCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01261.hp1 HG00408.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0018 a0001c0028t0080 a0001c0001t0018 a0001c0028t0080	a0001c0001t0018g0130 a0001c0028t0080g0063 a0001c0001t0018g0130 a0001c0028t0080g0063	2	134	0.0149	27	c.-52 others(46): Show c.-521-1223_-521-1197dupAGGAGAAAAAGCAAGCACAGAGATGC T	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	3/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41869681	A A	AGAAACTC others(20): Show AGAAACTCTTGCAGGTGACGGATATGTG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0111 a0001c0001t0064g0111	1	134	0.0075	27	c.-80 others(48): Show c.-801+48705_-801+48731dupCACATATCCGTCACCTGCAAGAGT TTC	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01255.hp1 NA18747.hp1 HG01074.hp1 HG01255.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0106 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0002g0106 a0001c0001t0010g0065 a0001c0001t0010g0066	3	280	0.0107	27	c.-28 others(38): Show c.-2863_-2862insAAAAAATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG04204.hp1 HG01256.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0092 a0001c0002t0002g0132 a0001c0001t0002g0092 a0001c0002t0002g0132	2	280	0.0071	27	c.-28 others(38): Show c.-2863_-2862insAAAATATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HK1_chr10_69273496_69406882	69276118	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	280	0.0036	27	c.-28 others(38): Show c.-2863_-2862insAATATATATATATATATATATATATAT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2377		chr10	TogoVar
HKDC1_chr10_69215332_69272552	69238368	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG02647.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0225 a0001c0003t0002g0265 a0001c0003t0001g0225 a0001c0003t0002g0265	2	380	0.0053	27	c.496 others(42): Show c.496-655_496-654insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HKDC1	ENSG00000156510.13	transcript	ENST00000354624.6	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HLA-F_chr6_29718434_29732296	29722774	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 NA18969.hp2 NA19000.hp1 HG01496.hp1 NA18969.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0004t0001g0001 a0001c0001t0001g0001 a0001c0004t0001g0001	3	443	0.0068	27	c.-69 others(36): Show c.-690_-689insGAAGAAGAAGAAGAAGAAGAAGAAGAA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		659		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722795	A A	AGAGGAAG others(20): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA18949.hp1 NA19075.hp1 others(1): Show HG02738.hp2 NA18949.hp1 NA19075.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	4	443	0.0090	27	c.-66 others(36): Show c.-669_-668insGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		638		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722801	A A	AGAGGAAG others(20): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 NA19009.hp1 HG01934.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	2	443	0.0045	27	c.-66 others(36): Show c.-663_-662insGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		632		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722804	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18970.hp2 NA18964.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0014 a0001c0001t0001g0019	2	443	0.0045	27	c.-66 others(36): Show c.-660_-659insGAAGAAGAAGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		629		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722807	A A	AGAAGAAG others(20): Show AGAAGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	443	0.0023	27	c.-65 others(36): Show c.-657_-656insGAAGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		626		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722810	A A	AGAGGAAG others(20): Show AGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	443	0.0023	27	c.-65 others(36): Show c.-654_-653insGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		623		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00673.hp1 others(21): Show HG00423.hp1 HG00621.hp2 HG00673.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01928.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp2 HG03834.hp2 NA18943.hp1 NA18961.hp1 NA18981.hp2 NA18988.hp1 NA19007.hp1 NA19060.hp1 NA19075.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0018	24	479	0.0501	27	c.71 others(36): Show c.710_*711insTTTTTTTTTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HM13_chr20_31509442_31574543	31535785	T T	TCAAGAAG others(20): Show TCAAGAAGCATCTTGTTAAGTGGTAGAG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	202	0.0050	27	c.283 others(44): Show c.283-2393_283-2367dupCAAGAAGCATCTTGTTAAGTGGTAGAG	HM13	ENSG00000101294.19	transcript	ENST00000398174.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HMBS_chr11_119079881_119098549	119086678	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19082.hp1 NA18943.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0179 a0001c0001t0001g0076 a0001c0001t0001g0179	2	444	0.0045	27	c.34- others(42): Show c.34-1576_34-1575insAAAAAAATATATATATATATATATATA	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMBS_chr11_119079881_119098549	119086678	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	444	0.0023	27	c.34- others(42): Show c.34-1576_34-1575insAAAAATATATATATATATATATATATA	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
HMCN2_chr9_130260760_130439123	130278033	T T	TCATCACC others(20): Show TCATCACCACCACCATCATCATCATCAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0100 a0001c0048t0001g0100	1	258	0.0039	27	c.260 others(44): Show c.260-6568_260-6567insTCACCACCACCATCATCATCATCACCA	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130293279	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0024 a0024	a0024c0166 a0024c0166	a0024c0166t0002 a0024c0166t0002	a0024c0166t0002g0178 a0024c0166t0002g0178	1	258	0.0039	27	c.613 others(44): Show c.613-1555_613-1554insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	4/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(20): Show CCCTCCCTCCCTCCCTCCCTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0082 a0082	a0082c0052 a0082c0052	a0082c0052t0001 a0082c0052t0001	a0082c0052t0001g0089 a0082c0052t0001g0089	1	258	0.0039	27	c.235 others(46): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCTTCTTT C	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130315239	C C	CCCTCCCC others(20): Show CCCTCCCCTCCCCTCCCCTCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0044 a0044	a0044c0041 a0044c0041	a0044c0041t0001 a0044c0041t0001	a0044c0041t0001g0094 a0044c0041t0001g0094	1	258	0.0039	27	c.235 others(46): Show c.2351-4254_2351-4253insTCCCCTCCCCTCCCCTCCCTCCCCTC C	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGCLL1_chr6_55429373_55584192	55477313	T T	TTATATAT others(20): Show TTATATATTATATTTATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp1 HG02647.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0201 a0001c0001t0001g0222	2	334	0.0060	27	c.795 others(46): Show c.795+18105_795+18106insTTATATATTATATAAATATAATATAT A	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337385	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	27	c.57 others(38): Show c.5726_*5727insTATATATATATATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4929		chr21	TogoVar
HMHB1_chr5_143807161_143825716	143820318	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02602.hp1 HG02602.hp2 others(2): Show HG01361.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0106 a0002c0002t0001g0123 a0002c0002t0001g0036 a0002c0002t0001g0106 a0002c0002t0001g0123	5	458	0.0109	27	c.38- others(40): Show c.38-156_38-130dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	406	0.0025	27	c.37 others(38): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding		2936		chr5	TogoVar
HMSD_chr18_63944301_63966835	63963063	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0108 a0001c0004t0019g0108	1	404	0.0025	27	c.27 others(38): Show c.2708_*2709insTTCTTTCTTTCTTTCTTTCTTTCTTTC	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1229		chr18	TogoVar
HNF4A_chr20_44350699_44437845	44385059	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	322	0.0031	27	c.50- others(44): Show c.50-20997_50-20971dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNRNPA1L2_chr13_52637431_52648773	52639694	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	436	0.0023	27	c.-27 others(38): Show c.-2799_-2798insAAAAAAAAAAAAAAAAAAAAAAAAAAA	HNRNPA1L2	ENSG00000139675.13	transcript	ENST00000357495.5	protein_coding		2736		chr13	TogoVar
HNRNPAB_chr5_178199533_178216163	178203504	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18977.hp1 HG02523.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	462	0.0043	27	c.-12 others(38): Show c.-1260_-1259insAAAAAAAAAAAAAAAAAAAAAAAAAAA	HNRNPAB	ENSG00000197451.12	transcript	ENST00000358344.8	protein_coding		1028		chr5	TogoVar
HNRNPR_chr1_23299688_23349284	23321163	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0318 a0001c0001t0005g0318	1	354	0.0028	27	c.811 others(42): Show c.811+364_811+365insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	7/10			chr1	TogoVar
HOMER2_chr15_82843983_82957720	82860949	T T	TGAGAGAG others(20): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02258.hp1 HG03540.hp1 others(3): Show HG01258.hp2 HG02258.hp1 HG03540.hp1 NA18747.hp2 NA18953.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0107 a0001c0001t0001g0111 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0300	6	348	0.0172	27	c.388 others(44): Show c.388-1815_388-1814insCTCTCTCTCTCTCTCTCTCTCTCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG01175.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0278 a0001c0001t0001g0139 a0001c0001t0001g0278	2	348	0.0058	27	c.295 others(44): Show c.295-4283_295-4282insAAAAATATATATATATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82928940	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18983.hp1 HG01981.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0235 a0001c0001t0001g0194 a0001c0001t0001g0235	2	348	0.0058	27	c.5+2 others(42): Show c.5+23590_5+23591insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	1/8			chr15	TogoVar
HOMEZ_chr14_23267422_23291132	23281076	T T	TGTGTTTT others(20): Show TGTGTTTTTAAGTATTACTCCTGATCTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	394	0.0025	27	c.41- others(42): Show c.41-3916_41-3890dupCAGATCAGGAGTAATACTTAAAAACAC	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOOK1_chr1_59809949_59881322	59855963	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0141 a0001c0001t0045g0141	1	252	0.0040	27	c.124 others(46): Show c.1243-2465_1243-2464insATATATATATATATATATATATATAT A	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21			chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30125216	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	350	0.0029	27	c.819 others(44): Show c.819+3028_819+3029insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXA3_chr7_27102010_27157583	27114827	A A	AATATATA others(20): Show AATATATATTATATATATTATATATATT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	326	0.0031	27	c.-12 others(46): Show c.-120-4068_-120-4067insAATATATATAATATATATAATATATA T	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXB13_chr17_48719763_48733750	48731314	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	426	0.0024	27	c.-27 others(38): Show c.-2722_-2721insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		2565		chr17	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	400	0.0025	27	c.37 others(38): Show c.3745_*3746insTGTGTGTGTGTGTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(20): Show TTCTCTTCTCTTCTCTTCTTTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 NA18973.hp1 NA18995.hp1 others(1): Show HG01074.hp2 NA18973.hp1 NA18995.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	4	306	0.0131	27	c.26 others(38): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTTTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(20): Show TTCTCTTCTTTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0001 a0001c0001t0055g0001	1	306	0.0033	27	c.26 others(38): Show c.2619_*2620insTCTCTTCTTTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399595	C C	CCACCACC others(20): Show CCACCACCACCGCCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	314	0.0032	27	c.-25 others(44): Show c.-25+2685_-25+2686insGCCACCACCACCACCATCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPGDS_chr4_94293535_94347836	94340305	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	312	0.0032	27	c.-10 others(44): Show c.-10+2489_-10+2490insAGAAAAAGAAAGAAAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPS4_chr22_26445882_26488783	26466719	A A	AATGCTAT others(20): Show AATGCTATACCCAATCTCTCGTTTGTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp1 HG01517.hp1 others(4): Show HG00733.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02683.hp2 HG03688.hp2 NA20752.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0013 a0002c0002 a0007c0013	a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 others(1): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 a0007c0013t0001	a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0006g0031 others(2): Show a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0006g0031 a0002c0002t0012g0114 a0007c0013t0001g0032	7	404	0.0173	27	c.670 others(42): Show c.670-484_670-458dupGAACAAACGAGAGATTGGGTATAGCAT	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	8/13			chr22	TogoVar
HPSE2_chr10_98452077_99240852	98688465	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18946.hp2 NA18968.hp1 others(1): Show HG01081.hp2 NA18946.hp2 NA18968.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0135 a0002c0002t0002g0128 a0002c0002t0002g0133 others(1): Show a0001c0001t0003g0135 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0134	4	142	0.0282	27	c.100 others(46): Show c.1004+5434_1004+5435insAAAAAAAAAAAAAAAAAAAAAAAAAA A	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132268	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	142	0.0070	27	c.610 others(46): Show c.610+11969_610+11970insCTTTCTTTCTTTCTTTCTTTCTTTCT T	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HS2ST1_chr1_86909635_87114982	86990837	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0109 a0001c0001t0011g0109	1	154	0.0065	27	c.124 others(46): Show c.124+75677_124+75678insATATATATATATATATATATATATAT A	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6			chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 NA18747.hp2 NA18961.hp1 others(2): Show HG01169.hp1 NA18747.hp2 NA18961.hp1 NA18978.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0002t0004 a0001c0002t0053	a0001c0001t0001g0223 a0001c0001t0006g0307 a0001c0001t0016g0294 others(2): Show a0001c0001t0001g0223 a0001c0001t0006g0307 a0001c0001t0016g0294 a0001c0002t0004g0260 a0001c0002t0053g0263	5	440	0.0114	27	c.-10 others(38): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22818929	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCATTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0044 a0001c0002t0007g0044	1	350	0.0029	27	c.485 others(44): Show c.485+3835_485+3836insTTCCTTCCTTCCTTCCTTCATTCCTTC	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(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	338	0.0030	27	c.600 others(46): Show c.600-15488_600-15487insTTTTTTTTTTTTTTTTTTTTTTTTTT T	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25857919	C C	CCTTCCTT others(20): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0121 a0005c0006t0001g0121	1	164	0.0061	27	c.734 others(48): Show c.734+164771_734+164772insCCTTCTTTCTTTCTTTCTTTCTTT CTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar

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