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
IMMP2L_chr7_110657644_111567492	111556014	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	84	0.0119	22	c.-3+ others(37): Show c.-3+5836_-3+5837insTATATATATATATACACACACA	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	1/5			chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111556018	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0058 a0001c0002t0004g0058	1	84	0.0119	22	c.-3+ others(37): Show c.-3+5832_-3+5833insTATATATATATATATACACACA	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	1/5			chr7	TogoVar
IMP4_chr2_130337897_130352967	130350029	A A	ATTTATTT others(15): Show ATTTATTTATTTATTTATTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02622.hp1 NA20300.hp2 HG01175.hp2 HG02622.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0004	a0001c0001t0001g0005 a0001c0001t0001g0025 a0002c0003t0004g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 a0002c0003t0004g0002	3	402	0.0075	22	c.35 others(33): Show c.3561_*3562insTTTATTTATTTATTTATTTTAT	IMP4	ENSG00000136718.10	transcript	ENST00000259239.8	protein_coding		2063		chr2	TogoVar
IMPA2_chr18_11976507_12035877	11978211	C C	CTTTCTTT others(15): Show CTTTCTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02683.hp1 NA18970.hp1 others(2): Show HG01346.hp2 HG02683.hp1 NA18970.hp1 NA19009.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0303 a0001c0001t0001g0318 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0303 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0335	5	364	0.0137	22	c.-34 others(33): Show c.-3459_-3458insTTTCTTTTTTTTTTTTTTTTTT	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding		3295		chr18	TogoVar
IMPA2_chr18_11976507_12035877	12022528	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	364	0.0028	22	c.491 others(39): Show c.491-5514_491-5513insAATATATATATATATATATATA	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
IMPDH1_chr7_128387277_128414982	128412944	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG01070.hp2 others(11): Show HG00099.hp2 HG00408.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01361.hp1 HG02083.hp2 HG02155.hp1 NA18747.hp1 NA18945.hp1 NA18969.hp2 NA18980.hp2 NA18997.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0043 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0003g0019	14	414	0.0338	22	c.-30 others(33): Show c.-3044_-3043insAAAAAAAAAAAAAAAAAAAAAA	IMPDH1	ENSG00000106348.19	transcript	ENST00000338791.11	protein_coding		2963		chr7	TogoVar
IMPG1_chr6_75916114_76077662	75924529	A A	ATAATATA others(15): Show ATAATATAATTATATAATATAAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18977.hp1 NA19009.hp2 others(1): Show NA18962.hp2 NA18977.hp1 NA19009.hp2 NA19077.hp2	a0002 a0009 a0013 a0002 a0009 a0013	a0002c0002 a0009c0009 a0013c0013 a0002c0002 a0009c0009 a0013c0013	a0002c0002t0001 a0009c0009t0001 a0013c0013t0001 a0002c0002t0001 a0009c0009t0001 a0013c0013t0001	a0002c0002t0001g0140 a0009c0009t0001g0068 a0009c0009t0001g0106 others(1): Show a0002c0002t0001g0140 a0009c0009t0001g0068 a0009c0009t0001g0106 a0013c0013t0001g0183	4	302	0.0133	22	c.224 others(39): Show c.2244-845_2244-824dupATTATATTATATAATTATATTA	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	15/16			chr6	TogoVar
IMPG1_chr6_75916114_76077662	76021778	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18947.hp2 NA19056.hp1 others(1): Show HG01175.hp2 NA18947.hp2 NA19056.hp1 NA19068.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0002 a0001c0001t0001 a0002c0002t0001 a0004c0004t0002	a0001c0001t0001g0192 a0001c0001t0001g0276 a0002c0002t0001g0151 others(1): Show a0001c0001t0001g0192 a0001c0001t0001g0276 a0002c0002t0001g0151 a0004c0004t0002g0075	4	302	0.0133	22	c.666 others(37): Show c.666+316_666+337dupATATATATATATATATATATAT	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	6/16			chr6	TogoVar
INAFM1_chr19_47269885_47280723	47271689	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02027.hp2 NA18965.hp1 others(1): Show HG00609.hp2 HG02027.hp2 NA18965.hp1 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0000 a0001c0002t0005g0000 a0001c0002t0001g0000 a0001c0002t0005g0000	4	394	0.0102	22	c.-32 others(33): Show c.-3231_-3230insTGTGTGTGTGTGTGTGTGTGTG	INAFM1	ENSG00000257704.4	transcript	ENST00000552360.4	protein_coding		3195		chr19	TogoVar
INAVA_chr1_200889900_200920742	200915813	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02559.hp2 NA18963.hp2 HG02004.hp1 HG02559.hp2 NA18963.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0003 a0001c0001t0009 a0006c0011t0017 a0001c0001t0003 a0001c0001t0009 a0006c0011t0017	a0001c0001t0003g0001 a0001c0001t0009g0042 a0006c0011t0017g0024 a0001c0001t0003g0001 a0001c0001t0009g0042 a0006c0011t0017g0024	3	424	0.0071	22	c.21 others(33): Show c.2184_*2185insGTGTGTGTGTGTGTGTGTGCGC	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		72		chr1	TogoVar
INAVA_chr1_200889900_200920742	200915813	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA19055.hp1 NA19068.hp2 NA18986.hp1 NA19055.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0177 a0001c0001t0009g0014 a0001c0001t0003g0177 a0001c0001t0009g0014	3	424	0.0071	22	c.21 others(33): Show c.2184_*2185insGTGTGTGTGTGTGTGTGTGTGC	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		72		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917808	G G	GCGCTCTC others(15): Show GCGCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02630.hp1 HG03017.hp2 others(1): Show HG00423.hp1 HG02630.hp1 HG03017.hp2 HG04199.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0009c0021 a0001c0001 a0001c0008 a0009c0021	a0001c0001t0001 a0001c0001t0026 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0026 a0001c0008t0001 a0009c0021t0021	a0001c0001t0001g0059 a0001c0001t0026g0006 a0001c0008t0001g0057 others(1): Show a0001c0001t0001g0059 a0001c0001t0026g0006 a0001c0008t0001g0057 a0009c0021t0021g0006	4	424	0.0094	22	c.41 others(33): Show c.4179_*4180insCGCTCTCTCTCTCTCTCTCTCT	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2067		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917808	G G	GCTCTCTC others(15): Show GCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02132.hp1 HG04184.hp2 HG02083.hp1 HG02132.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0030 a0001c0002t0002 a0001c0001t0003 a0001c0001t0030 a0001c0002t0002	a0001c0001t0003g0001 a0001c0001t0030g0001 a0001c0002t0002g0123 a0001c0001t0003g0001 a0001c0001t0030g0001 a0001c0002t0002g0123	3	424	0.0071	22	c.41 others(33): Show c.4179_*4180insCTCTCTCTCTCTCTCTCTCTCT	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2067		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917815	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	424	0.0024	22	c.41 others(33): Show c.4186_*4187insTCTCTCTCTCTCTCTCTCTCTG	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2074		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	424	0.0024	22	c.42 others(33): Show c.4218_*4219insTCTCTATATATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 NA18995.hp2 NA20300.hp2 HG01952.hp1 NA18995.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0024 a0001c0002t0031 a0001c0001t0004 a0001c0001t0024 a0001c0002t0031	a0001c0001t0004g0005 a0001c0001t0024g0005 a0001c0002t0031g0041 a0001c0001t0004g0005 a0001c0001t0024g0005 a0001c0002t0031g0041	3	424	0.0071	22	c.42 others(33): Show c.4218_*4219insTCTCTCTATATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 NA19067.hp2 HG01981.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0158 a0001c0002t0002g0007 a0001c0001t0004g0158 a0001c0002t0002g0007	2	424	0.0047	22	c.42 others(33): Show c.4218_*4219insTCTCTCTCTATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	424	0.0024	22	c.42 others(33): Show c.4218_*4219insTCTCTCTCTCTATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02080.hp2 NA18949.hp2 others(1): Show HG01074.hp1 HG02080.hp2 NA18949.hp2 NA18992.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0010 a0001c0001 a0001c0002 a0007c0010	a0001c0001t0003 a0001c0001t0004 a0001c0002t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0005 a0007c0010t0022	a0001c0001t0003g0001 a0001c0001t0004g0005 a0001c0002t0005g0002 others(1): Show a0001c0001t0003g0001 a0001c0001t0004g0005 a0001c0002t0005g0002 a0007c0010t0022g0149	4	424	0.0094	22	c.42 others(33): Show c.4218_*4219insTCTCTCTCTCTCTATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	424	0.0024	22	c.42 others(33): Show c.4218_*4219insTCTCTCTCTCTCTCCATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 NA18969.hp2 HG01261.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0104 a0001c0002t0002g0086 a0001c0001t0004g0104 a0001c0002t0002g0086	2	424	0.0047	22	c.42 others(33): Show c.4218_*4219insTCTCTCTCTCTCTCTATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02004.hp1 HG04184.hp1 HG01978.hp2 HG02004.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0001 a0001c0001t0003g0106 a0002c0003t0001g0061 a0001c0001t0003g0001 a0001c0001t0003g0106 a0002c0003t0001g0061	3	424	0.0071	22	c.42 others(33): Show c.4218_*4219insTCTCTCTCTCTCTCTCTATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02165.hp2 HG02257.hp2 others(4): Show HG00673.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02735.hp1 HG03453.hp2 HG06807.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0012c0018	a0001c0001t0015 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0015 a0001c0002t0002 a0001c0002t0005 a0002c0003t0014 a0012c0018t0003	a0001c0001t0015g0026 a0001c0002t0002g0007 a0001c0002t0002g0160 others(3): Show a0001c0001t0015g0026 a0001c0002t0002g0007 a0001c0002t0002g0160 a0001c0002t0005g0019 a0002c0003t0014g0028 a0012c0018t0003g0001	7	424	0.0165	22	c.42 others(33): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917878	T T	TATATATA others(15): Show TATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	424	0.0024	22	c.42 others(33): Show c.4249_*4250insATATATATATATATATATATAA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2137		chr1	TogoVar
INA_chr10_103272138_103295346	103278903	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02647.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0072 a0001c0002t0001g0071 a0001c0001t0002g0072 a0001c0002t0001g0071	2	418	0.0048	22	c.106 others(39): Show c.1065+637_1065+658dupACACACACACACACACACACAC	INA	ENSG00000148798.11	transcript	ENST00000369849.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
ING3_chr7_120945777_120982216	120959630	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	332	0.0030	22	c.267 others(39): Show c.267+4018_267+4039dupTTTTTTTTTTTTTTTTTTTTTT	ING3	ENSG00000071243.16	transcript	ENST00000315870.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
INHBA_chr7_41680114_41708090	41700841	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01071.hp1 HG01123.hp2 others(4): Show HG00597.hp2 HG01071.hp1 HG01123.hp2 HG01261.hp1 HG02109.hp2 NA18747.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022	a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0013g0063 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0013g0063 a0001c0001t0015g0065 a0001c0001t0022g0174	7	374	0.0187	22	c.-14 others(39): Show c.-143-346_-143-325dupCTCTCTCTCTCTCTCTCTCTCT	INHBA	ENSG00000122641.11	transcript	ENST00000242208.5	protein_coding	1/2			chr7	TogoVar
INIP_chr9_112678926_112723117	112700360	A A	AGGCCCCT others(15): Show AGGCCCCTGGGATTTTTCCATGG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	372	0.0027	22	c.26- others(37): Show c.26-6149_26-6128dupCCATGGAAAAATCCCAGGGGCC	INIP	ENSG00000148153.14	transcript	ENST00000374242.9	protein_coding	2/4			chr9	TogoVar
INKA1_chr3_49798261_49810030	49802196	C C	CGGGGGGG others(15): Show CGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	22	c.-11 others(33): Show c.-1197_-1196insGGGGGGGGGGGGGGGGGGGGGG	INKA1	ENSG00000185614.7	transcript	ENST00000333323.6	protein_coding		1064		chr3	TogoVar
INKA2_chr1_111717064_111744395	111721765	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0243 a0001c0001t0101g0243	1	434	0.0023	22	c.51 others(33): Show c.5181_*5202dupACACACACACACACACACACAC	INKA2	ENSG00000197852.12	transcript	ENST00000357260.6	protein_coding		298		chr1	TogoVar
INKA2_chr1_111717064_111744395	111728038	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp1 NA18950.hp1 others(1): Show HG03098.hp1 HG03579.hp1 NA18950.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0046 a0001c0001t0096 a0001c0001t0005 a0001c0001t0046 a0001c0001t0096	a0001c0001t0005g0051 a0001c0001t0046g0205 a0001c0001t0096g0145 a0001c0001t0005g0051 a0001c0001t0046g0205 a0001c0001t0096g0145	4	434	0.0092	22	c.58- others(35): Show c.58-256_58-235dupGTGTGTGTGTGTGTGTGTGTGT	INKA2	ENSG00000197852.12	transcript	ENST00000357260.6	protein_coding	1/1			chr1	TogoVar
INKA2_chr1_111717064_111744395	111728070	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG01496.hp2 others(12): Show HG01243.hp1 HG01261.hp1 HG01496.hp2 HG02055.hp2 HG02451.hp2 HG02486.hp2 HG02698.hp2 HG02976.hp2 HG03139.hp2 HG03490.hp2 HG03492.hp2 HG04115.hp1 NA18940.hp1 NA18963.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0031 a0001c0001t0044 a0001c0001t0062 a0001c0001t0063 a0001c0002t0075	a0001c0001t0001g0058 a0001c0001t0002g0268 a0001c0001t0004g0011 others(8): Show a0001c0001t0001g0058 a0001c0001t0002g0268 a0001c0001t0004g0011 a0001c0001t0005g0192 a0001c0001t0007g0097 a0001c0001t0009g0282 a0001c0001t0031g0087 a0001c0001t0044g0191 a0001c0001t0062g0062 a0001c0001t0063g0080 a0001c0002t0075g0119	15	434	0.0346	22	c.58- others(35): Show c.58-267_58-266insATGTGTGTGTGTGTGTGTGTGT	INKA2	ENSG00000197852.12	transcript	ENST00000357260.6	protein_coding	1/1			chr1	TogoVar
INO80D_chr2_205988721_206091174	206010083	A A	ACACACAC others(15): Show ACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03516.hp2 HG02165.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0019 a0001c0001t0003 a0001c0008t0019	a0001c0001t0003g0282 a0001c0008t0019g0205 a0001c0001t0003g0282 a0001c0008t0019g0205	2	334	0.0060	22	c.154 others(39): Show c.1543-290_1543-289insCGTGTGTGTGTGTGTGTGTGTG	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	8/10			chr2	TogoVar
INO80D_chr2_205988721_206091174	206025542	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	334	0.0030	22	c.129 others(41): Show c.1298+2568_1298+2569insATATATATATATATATATATTT	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	6/10			chr2	TogoVar
INO80_chr15_40973880_41121280	40998983	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	282	0.0036	22	c.349 others(41): Show c.3498-1404_3498-1383dupGTGTGTGTGTGTGTGTGTGTGT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	28/35			chr15	TogoVar
INPP4B_chr4_142018160_142851301	142268322	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00642.hp1 others(2): Show HG00438.hp1 HG00438.hp2 HG00642.hp1 HG02015.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0004 a0001c0003t0011 a0001c0003t0017 others(2): Show a0001c0001t0004 a0001c0003t0011 a0001c0003t0017 a0001c0005t0001 a0001c0009t0001	a0001c0001t0004g0010 a0001c0003t0011g0007 a0001c0003t0017g0006 others(2): Show a0001c0001t0004g0010 a0001c0003t0011g0007 a0001c0003t0017g0006 a0001c0005t0001g0070 a0001c0009t0001g0072	5	90	0.0556	22	c.615 others(39): Show c.615+2319_615+2340dupTTTTTTTTTTTTTTTTTTTTTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	10/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142299245	C C	CCGTCCTG others(15): Show CCGTCCTGGGCTCAAAAAGGGAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01070.hp2 others(31): Show HG00438.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01261.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0002t0004 a0001c0002t0022 a0001c0005t0001 a0001c0005t0007 a0002c0004t0001 a0002c0004t0006 a0002c0013t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0002g0021 others(31): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0003g0032 a0001c0001t0003g0073 a0001c0001t0004g0010 a0001c0001t0004g0043 a0001c0001t0006g0042 a0001c0001t0006g0047 a0001c0001t0008g0056 a0001c0001t0008g0090 a0001c0001t0009g0004 a0001c0001t0009g0034 a0001c0001t0009g0055 a0001c0001t0009g0063 a0001c0001t0015g0025 a0001c0001t0016g0054 a0001c0001t0018g0008 a0001c0001t0019g0064 a0001c0001t0021g0015 a0001c0001t0024g0030 a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0052 a0001c0002t0022g0089 a0001c0005t0001g0026 a0001c0005t0001g0070 a0001c0005t0007g0087 a0002c0004t0001g0058 a0002c0004t0001g0062 a0002c0004t0006g0057 a0002c0013t0001g0005	34	90	0.3778	22	c.503 others(39): Show c.503+6212_503+6213insATCCCTTTTTGAGCCCAGGACG	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	9/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142537429	T T	TATATATA others(15): Show TATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	90	0.0111	22	c.-19 others(43): Show c.-190-74704_-190-74703insCTATATATATATATATATATAT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142824314	A A	ATCTATCT others(15): Show ATCTATCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG03225.hp1 others(2): Show HG02723.hp1 HG02965.hp2 HG03225.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0022 a0001c0006t0006	a0001c0001t0008g0090 a0001c0002t0002g0050 a0001c0002t0004g0052 others(2): Show a0001c0001t0008g0090 a0001c0002t0002g0050 a0001c0002t0004g0052 a0001c0002t0022g0089 a0001c0006t0006g0051	5	90	0.0556	22	c.-25 others(43): Show c.-254+21894_-254+21895insGATAGAGATAGAGATAGATAGA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	1/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142836719	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02809.hp1 HG02523.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0007 a0001c0001t0003 a0001c0005t0007	a0001c0001t0003g0032 a0001c0005t0007g0029 a0001c0001t0003g0032 a0001c0005t0007g0029	2	90	0.0222	22	c.-25 others(41): Show c.-254+9468_-254+9489dupGTGTGTGTGTGTGTGTGTGTGT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	1/25			chr4	TogoVar
INPP5A_chr10_132532787_132788480	132596912	T T	TGCATGTG others(15): Show TGCATGTGTGCGCGCATGTGCAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	204	0.0049	22	c.76- others(39): Show c.76-10991_76-10970dupCGCATGTGCACGCATGTGTGCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132703538	T T	TACACACA others(15): Show TACACACACGTGGCTTCACCCAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	204	0.0049	22	c.475 others(39): Show c.475-4754_475-4733dupACACACACACGTGGCTTCACCC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37866406	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19060.hp1 HG01167.hp2 NA19060.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0051 a0002c0003t0003g0280 a0002c0003t0003g0051 a0002c0003t0003g0280	2	346	0.0058	22	c.238 others(37): Show c.2386+31_2386+52dupTGTGTGTGTGTGTGTGTGTGTG	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	21/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TTATATAC others(15): Show TTATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19060.hp2 NA18980.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0154 a0001c0001t0001g0119 a0001c0001t0001g0154	2	346	0.0058	22	c.532 others(41): Show c.532+14604_532+14605insTATATATATATATATGTATATA	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01358.hp2 HG02818.hp2 others(6): Show HG01074.hp2 HG01358.hp2 HG02818.hp2 HG02976.hp2 HG03688.hp1 HG03942.hp2 NA18939.hp2 NA19009.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0109 others(6): Show a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0301	9	346	0.0260	22	c.532 others(41): Show c.532+14583_532+14604dupTATATATATATATATATATATA	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941950	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0235 a0001c0001t0012g0236 a0001c0001t0012g0235 a0001c0001t0012g0236	2	346	0.0058	22	c.281 others(39): Show c.281-1153_281-1152insATATATATATATATATATATAT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941954	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	346	0.0029	22	c.281 others(39): Show c.281-1157_281-1156insATATATATATATATATATATAT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19054.hp1 HG01257.hp1 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0002 a0002c0002t0003 a0001c0005t0002 a0002c0002t0003	a0001c0005t0002g0286 a0002c0002t0003g0004 a0001c0005t0002g0286 a0002c0002t0003g0004	2	346	0.0058	22	c.281 others(39): Show c.281-1161_281-1160insATATATATATTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19011.hp2 NA19083.hp2 NA18957.hp1 NA19011.hp2 NA19083.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0015 a0001c0001 a0010c0015	a0001c0001t0001 a0010c0015t0002 a0001c0001t0001 a0010c0015t0002	a0001c0001t0001g0222 a0001c0001t0001g0223 a0010c0015t0002g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0010c0015t0002g0221	3	346	0.0087	22	c.281 others(39): Show c.281-1161_281-1160insATATATATATATTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18946.hp2 HG02523.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0097 a0001c0013t0001g0209 a0001c0001t0001g0097 a0001c0013t0001g0209	2	346	0.0058	22	c.281 others(39): Show c.281-1161_281-1160insATATATATATATATTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar

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