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
ANKRD17_chr4_73068376_73263798	73158152	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	292	0.0034	39	c.705 others(56): Show c.705-1987_705-1986insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33			chr4	TogoVar
ANKRD26_chr10_26999116_27105494	27104818	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0071 a0015c0019t0001g0071	1	358	0.0028	39	c.-44 others(50): Show c.-4493_-4492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding		4325		chr10	TogoVar
ANKRD27_chr19_32592006_32680180	32656103	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0169 a0002c0016t0003g0169	1	348	0.0029	39	c.102 others(56): Show c.102+2810_102+2811insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTCTTT	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	2/28			chr19	TogoVar
ANKRD55_chr5_56094680_56238330	56135356	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	308	0.0033	39	c.613 others(56): Show c.613-8251_613-8250insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	7/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166086	T T	TTTTCTTT others(32): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0270 a0001c0003t0001g0270	1	308	0.0033	39	c.422 others(56): Show c.422+4607_422+4608insGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD66_chr6_46741933_46764506	46744355	C C	CTCTTCCT others(32): Show CTCTTCCTCTTCCTCTTCTTTTTCTTCTCCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	402	0.0025	39	c.-27 others(50): Show c.-2732_-2731insTCTTCCTCTTCCTCTTCTTTTTCTTCTCCTTCTT CTTCT	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding		2577		chr6	TogoVar
ANKS1B_chr12_98738974_99989936	99667353	A A	AAAAGAAA others(32): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0042 a0001c0007t0007g0042	1	48	0.0208	39	c.112 others(60): Show c.1129-12144_1129-12143insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	8/26			chr12	TogoVar
ANO10_chr3_43360848_43627011	43603453	G G	GTTTTTAC others(32): Show GTTTTTACATTTTAACTTCATATTTTCACTTTATAAGAGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0004 a0012c0009t0004	a0012c0009t0004g0040 a0012c0009t0004g0040	1	224	0.0045	39	c.139 others(56): Show c.139+2260_139+2261insGCTCTTATAAAGTGAAAATATGAAGTTA AAATGTAAAAA	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	2/12			chr3	TogoVar
ANO1_chr11_70073317_70194530	70192125	T T	TAATCCCA others(32): Show TAATCCCACATGAGGGATTACTGCATTGAGAGGCCCAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	302	0.0033	39	c.41 others(50): Show c.4121_*4122insAATCCCACATGAGGGATTACTGCATTGAGAGGCC CAGAC	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding		2596		chr11	TogoVar
ANXA10_chr4_168087537_168192736	168155444	T T	TAAATTAT others(32): Show TAAATTATATATTTTATAATATATAATTATATATAATTTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18971.hp1 HG01952.hp2 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0182 a0002c0002t0001g0081 a0002c0002t0001g0182	2	284	0.0070	39	c.196 others(56): Show c.196-7084_196-7083insAAATTATATATTTTATAATATATAATTA TATATAATTTA	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11			chr4	TogoVar
ANXA2R_chr5_43034371_43045319	43044121	A A	ATATTTTA others(32): Show ATATTTTATATGAAATATATATTATATATAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	39	c.-40 others(50): Show c.-4076_-4075insATATATATTTTATATATAATATATATTTCATATA AAATA	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3803		chr5	TogoVar
AOAH_chr7_36507941_36729494	36510940	C C	CAAGCCAG others(32): Show CAAGCCAGGTCTCTCCTCTGATAACAGGAGAGAGTATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	306	0.0033	39	c.23 others(50): Show c.2311_*2312insCAGATACTCTCTCCTGTTATCAGAGGAGAGACCT GGCTT	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding		2000		chr7	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0097 a0003c0009t0001g0097	1	370	0.0027	39	c.317 others(56): Show c.3171+254_3171+255insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	318	0.0031	39	c.427 others(56): Show c.427-6280_427-6279insTATATATATATATATATATATATATATA TATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223789821	G G	GAGCGAGA others(32): Show GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG03209.hp2 HG02055.hp2 HG02630.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0012 a0002c0002t0002 a0001c0001t0002 a0001c0001t0012 a0002c0002t0002	a0001c0001t0002g0309 a0001c0001t0012g0207 a0002c0002t0002g0292 a0001c0001t0002g0309 a0001c0001t0012g0207 a0002c0002t0002g0292	3	340	0.0088	39	c.4-1 others(54): Show c.4-11953_4-11952insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	226	0.0044	39	c.787 others(58): Show c.787-12109_787-12108insAAAAAAAAAAATATATATATATATAT ATATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(32): Show GCACTGCACCCCGTGGAGCCGGCCCACCCCACAGCTCCGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	406	0.0025	39	c.806 others(54): Show c.806+647_806+648insTCGGAGCTGTGGGGTGGGCCGGCTCCACGG GGTGCAGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(32): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01123.hp1 HG02280.hp1 others(5): Show HG00673.hp1 HG01123.hp1 HG02280.hp1 HG02717.hp1 NA18950.hp1 NA18971.hp1 NA18973.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0002 a0001c0004t0002 a0001c0001t0001 a0001c0003t0002 a0001c0004t0002	a0001c0001t0001g0111 a0001c0003t0002g0196 a0001c0004t0002g0051 others(5): Show a0001c0001t0001g0111 a0001c0003t0002g0196 a0001c0004t0002g0051 a0001c0004t0002g0224 a0001c0004t0002g0225 a0001c0004t0002g0228 a0001c0004t0002g0230 a0001c0004t0002g0235	8	406	0.0197	39	c.806 others(54): Show c.806+647_806+648insTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128507	G G	GCCCCACA others(32): Show GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	406	0.0025	39	c.806 others(54): Show c.806+582_806+583insTGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128546	G G	GCCCCACA others(32): Show GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0196 a0001c0003t0002g0196	1	406	0.0025	39	c.806 others(54): Show c.806+543_806+544insTGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128593	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02055.hp1 HG02165.hp2 HG01981.hp2 HG02055.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0084 a0001c0001t0002g0062 a0001c0002t0001g0281 a0001c0001t0001g0084 a0001c0001t0002g0062 a0001c0002t0001g0281	3	406	0.0074	39	c.806 others(54): Show c.806+496_806+497insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128633	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	406	0.0025	39	c.806 others(54): Show c.806+418_806+456dupTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128712	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp1 HG02523.hp2 HG01081.hp2 HG02004.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0243 a0001c0001t0003g0370 a0001c0002t0001g0291 a0001c0001t0001g0243 a0001c0001t0003g0370 a0001c0002t0001g0291	3	406	0.0074	39	c.806 others(54): Show c.806+339_806+377dupTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128791	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCACCTCACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	406	0.0025	39	c.806 others(54): Show c.806+298_806+299insTGTGAGGTGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128791	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG03579.hp2 HG02559.hp1 HG02647.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0005 a0001c0001t0001 a0001c0003t0002 a0001c0003t0005	a0001c0001t0001g0065 a0001c0003t0002g0195 a0001c0003t0005g0114 a0001c0001t0001g0065 a0001c0003t0002g0195 a0001c0003t0005g0114	3	406	0.0074	39	c.806 others(54): Show c.806+260_806+298dupTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128826	C C	CCACAGCT others(32): Show CCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCACCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	406	0.0025	39	c.806 others(54): Show c.806+263_806+264insAGGTGGGCCGGCTCCACGGGGTGCAGTGTC GGAGCTGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128870	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCACCCCACA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0203 a0001c0003t0002g0203	1	406	0.0025	39	c.806 others(54): Show c.806+219_806+220insTGTGGGGTGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128870	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp2 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0328 a0001c0003t0002g0195 a0001c0001t0001g0328 a0001c0003t0002g0195	2	406	0.0049	39	c.806 others(54): Show c.806+219_806+220insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128896	C C	CGGCCCGC others(32): Show CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0359 a0001c0001t0003g0359	1	406	0.0025	39	c.806 others(54): Show c.806+193_806+194insAGCTCCACGGGGTGCAGTGTCGGAGCTGTG GGGCGGGCC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128910	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCACCCCACA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0052 a0001c0003t0002g0052	1	406	0.0025	39	c.806 others(54): Show c.806+179_806+180insTGTGGGGTGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128950	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	406	0.0025	39	c.806 others(54): Show c.806+139_806+140insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128990	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0073 a0001c0003t0002g0073	1	406	0.0025	39	c.806 others(53): Show c.806+99_806+100insTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128990	C C	CGCTCCGA others(32): Show CGCTCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0038 a0006c0019t0002g0038	1	406	0.0025	39	c.806 others(53): Show c.806+99_806+100insTGTGGGGCGGGCCAGCTCCACGGGGTGCAGT GTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3S2_chr15_89825599_89898994	89826511	T T	TTTGTTGT others(32): Show TTTGTTGTGGTTTTGTGTTTTTGTGTGTGTGTGTGTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	312	0.0032	39	c.90 others(50): Show c.9003_*9004insCAACACACACACACACACAAAAACACAAAACCAC AACAA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding		4087		chr15	TogoVar
AP4S1_chr14_31020649_31101450	31096676	C C	CATTATAT others(32): Show CATTATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0328 a0001c0001t0006g0328	1	346	0.0029	39	c.36 others(50): Show c.3641_*3642insATTATATATATATATATATATATATATATATATA TATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		227		chr14	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(32): Show AAGGAGAAGGAGAAGGAGAAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0125 a0002c0001t0001g0125	1	192	0.0052	39	c.-41 others(60): Show c.-416-16766_-416-16765insCCTCCTCCTCCTCCTCCTCCTTCT CCTTCTCCTTCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
APLP2_chr11_130064894_130149805	130112426	A A	ACTAAGGT others(32): Show ACTAAGGTGACAGGACACAGTACTTATTAAGTTGTTGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01243.hp1 others(6): Show HG00140.hp2 HG01074.hp2 HG01243.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp1 HG01978.hp2 HG02698.hp1 HG02886.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0004	a0001c0001t0001g0004 a0001c0001t0001g0264 a0001c0001t0002g0260 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0264 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0002c0002t0002g0127 a0002c0002t0002g0128 a0003c0003t0004g0185	9	274	0.0329	39	c.403 others(56): Show c.403+1809_403+1847dupGGTGACAGGACACAGTACTTATTAAGTT GTTGGGTCTAA	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	401	0.0025	39	c.-63 others(48): Show c.-637_-636insAAAAAAAAAAAAAAAAAAAATATATATATATATATA TAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	401	0.0025	39	c.-63 others(48): Show c.-637_-636insAAAAAAAAAAAAAAAAAATATATATATATATATATA TAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
APOL5_chr22_35712872_35734483	35717235	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	401	0.0025	39	c.-63 others(48): Show c.-637_-636insAAAAAAAAAAAAAAAATATATATATATATATATATA TAT	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding		636		chr22	TogoVar
AQP2_chr12_49945737_49963878	49962929	C C	CTTTCCCT others(32): Show CTTTCCCTCTTTTCCGCTTCTCTTTTCCCCTCTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0001 a0001c0001t0040g0001	1	442	0.0023	39	c.73 others(50): Show c.7321_*7322insTTTCCCTCTTTTCCGCTTCTCTTTTCCCCTCTTT TTTTT	AQP2	ENSG00000167580.8	transcript	ENST00000199280.4	protein_coding		4052		chr12	TogoVar
AQP5_chr12_49956872_49970682	49962929	C C	CTTTCCCT others(32): Show CTTTCCCTCTTTTCCGCTTCTCTTTTCCCCTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	466	0.0022	39	c.363 others(54): Show c.363+550_363+551insTTCCCTCTTTTCCGCTTCTCTTTTCCCCTC TTTTTTTTT	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARC_chr8_142606049_142619479	142607272	T T	TGGCGGGA others(32): Show TGGCGGGAGGGGAGTGGAGGGTGGCGGGAGGGGAGTGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0018 a0002c0003t0002g0018	1	420	0.0024	39	c.53 others(50): Show c.5327_*5328insCCTCACTCCCCTCCCGCCACCCTCCACTCCCCTC CCGCC	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding		3776		chr8	TogoVar
ARFRP1_chr20_63693647_63712976	63693654	A A	ACCTCCAC others(32): Show ACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	296	0.0034	39	c.67 others(50): Show c.6788_*6789insAGGTGGTGGAGGTGGAGGTGGTGGAGGTGGAGGT GGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4992		chr20	TogoVar
ARG1_chr6_131568226_131589329	131585099	A A	ACATTAAA others(32): Show ACATTAAAATTGCTAGGGTCTTGAATAGACTTACTATTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	420	0.0024	39	c.11 others(50): Show c.1191_*1192insCATTAAAATTGCTAGGGTCTTGAATAGACTTACT ATTCC	ARG1	ENSG00000118520.16	transcript	ENST00000368087.8	protein_coding		771		chr6	TogoVar
ARHGAP17_chr16_24914389_25020369	24983001	T T	TATATATA others(32): Show TATATATATATATATATATATTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	240	0.0042	39	c.54- others(54): Show c.54-3997_54-3996insTATATATATATATATATAAATATATATATA TATATATAT	ARHGAP17	ENSG00000140750.17	transcript	ENST00000289968.11	protein_coding	1/19			chr16	TogoVar
ARHGAP23_chr17_38423464_38517385	38513074	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	309	0.0032	39	c.21 others(50): Show c.2102_*2103insATATATATATATATATATATATATATATATATAT ATATA	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding		690		chr17	TogoVar
ARHGAP23_chr17_38423464_38517385	38513074	T T	TTAATATA others(32): Show TTAATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	309	0.0032	39	c.21 others(50): Show c.2102_*2103insTAATATATATATATATATATATATATATATATAT ATATA	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding		690		chr17	TogoVar
ARHGAP23_chr17_38423464_38517385	38513099	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	309	0.0032	39	c.21 others(50): Show c.2127_*2128insATATATATATATATATATATATATATATATATAT ATATA	ARHGAP23	ENSG00000275832.5	transcript	ENST00000622683.5	protein_coding		715		chr17	TogoVar
ARHGAP26_chr5_142765377_143234007	143012578	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	198	0.0051	39	c.110 others(58): Show c.1108-1501_1108-1500insATATATATATATATATATATATATAT ATATATATATGGT	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar

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