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
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	295	0.0034	16	c.43 others(27): Show c.4338_*4339insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	295	0.0034	16	c.43 others(27): Show c.4338_*4339insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCCCGTGT others(9): Show CCCCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	295	0.0034	16	c.43 others(27): Show c.4300_*4301insACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCC others(9): Show CCGTGTCCCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	295	0.0034	16	c.43 others(27): Show c.4300_*4301insACGGGGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02559.hp2 HG02015.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0002 a0001c0021t0001 a0001c0001t0002 a0001c0021t0001	a0001c0001t0002g0116 a0001c0021t0001g0085 a0001c0001t0002g0116 a0001c0021t0001g0085	2	295	0.0068	16	c.43 others(27): Show c.4300_*4301insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18970.hp2 HG02040.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0002g0026 a0001c0001t0001g0174 a0001c0001t0002g0026	2	295	0.0068	16	c.43 others(27): Show c.4300_*4301insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289337	C C	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	295	0.0034	16	c.42 others(27): Show c.4226_*4227insACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3053		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289337	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	16	c.42 others(27): Show c.4226_*4227insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3053		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289337	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02132.hp1 others(1): Show HG01256.hp2 HG01258.hp2 HG02132.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0032	4	295	0.0136	16	c.42 others(27): Show c.4226_*4227insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3053		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02293.hp1 HG03017.hp1 others(1): Show HG02109.hp2 HG02293.hp1 HG03017.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0193 a0001c0012t0001g0192	4	295	0.0136	16	c.42 others(27): Show c.4206_*4207insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0089 a0001c0005t0002g0089	1	295	0.0034	16	c.42 others(27): Show c.4206_*4207insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA18951.hp1 HG02809.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0173 a0001c0001t0001g0007 a0001c0001t0001g0173	2	295	0.0068	16	c.41 others(27): Show c.4168_*4169insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02165.hp1 HG00639.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0203 a0001c0001t0001g0017 a0001c0001t0001g0203	2	295	0.0068	16	c.41 others(27): Show c.4168_*4169insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289433	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	16	c.41 others(27): Show c.4130_*4131insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2957		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289433	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01952.hp2 HG02027.hp2 HG00140.hp2 HG01952.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0202 a0001c0001t0002g0139 a0001c0001t0001g0014 a0001c0001t0001g0202 a0001c0001t0002g0139	3	295	0.0102	16	c.41 others(27): Show c.4130_*4131insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2957		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	295	0.0034	16	c.40 others(27): Show c.4092_*4093insACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03540.hp2 HG03492.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0005 a0001c0001t0001g0019	2	295	0.0068	16	c.40 others(27): Show c.4092_*4093insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02717.hp1 HG02602.hp1 HG02717.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0001 a0006c0014t0002 a0001c0001t0001 a0006c0014t0002	a0001c0001t0001g0214 a0006c0014t0002g0140 a0001c0001t0001g0214 a0006c0014t0002g0140	2	295	0.0068	16	c.40 others(27): Show c.4092_*4093insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289497	C C	CTCTGCTC others(9): Show CTCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	16	c.40 others(27): Show c.4066_*4067insCACGGGACGGAGCAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2893		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289509	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02145.hp2 HG02040.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0002g0113 a0001c0001t0001g0174 a0001c0001t0002g0113	2	295	0.0068	16	c.40 others(27): Show c.4054_*4055insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2881		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCCCGTGT others(9): Show CCCCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0022 a0001c0005t0002g0022	1	295	0.0034	16	c.38 others(27): Show c.3892_*3893insACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	295	0.0034	16	c.38 others(27): Show c.3892_*3893insACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	16	c.38 others(27): Show c.3892_*3893insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02040.hp2 NA18973.hp2 HG01517.hp1 HG02040.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0001t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0001g0184 a0001c0001t0002g0121 a0001c0011t0001g0168 a0001c0001t0001g0184 a0001c0001t0002g0121 a0001c0011t0001g0168	3	295	0.0102	16	c.38 others(27): Show c.3892_*3893insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	295	0.0034	16	c.38 others(27): Show c.3836_*3837insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG02970.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	295	0.0068	16	c.38 others(27): Show c.3836_*3837insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289747	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01943.hp2 HG03017.hp1 others(1): Show HG00280.hp1 HG01943.hp2 HG03017.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0019t0002 a0001c0001t0001 a0001c0001t0002 a0001c0019t0002	a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0002g0130 others(1): Show a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0002g0130 a0001c0019t0002g0133	4	295	0.0136	16	c.38 others(27): Show c.3816_*3817insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2643		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCATGTCC others(9): Show CCATGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	295	0.0034	16	c.37 others(27): Show c.3778_*3779insACGGAGCAGGGACATG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCCCGTGT others(9): Show CCCCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02293.hp1 HG00735.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0040 a0001c0012t0001g0192 a0001c0001t0001g0040 a0001c0012t0001g0192	2	295	0.0068	16	c.37 others(27): Show c.3778_*3779insACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02486.hp2 HG02717.hp1 others(1): Show HG02300.hp2 HG02486.hp2 HG02717.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0214	4	295	0.0136	16	c.37 others(27): Show c.3778_*3779insACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG03491.hp1 HG01993.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0205 a0001c0001t0001g0003 a0001c0001t0001g0205	2	295	0.0068	16	c.37 others(27): Show c.3778_*3779insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA18995.hp1 NA18995.hp2 HG02145.hp2 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0113 a0001c0001t0003g0135 a0001c0001t0004g0223 a0001c0001t0002g0113 a0001c0001t0003g0135 a0001c0001t0004g0223	3	295	0.0102	16	c.37 others(27): Show c.3778_*3779insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289823	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 NA19091.hp2 HG02109.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0004g0222 a0001c0001t0001g0009 a0001c0001t0004g0222	2	295	0.0068	16	c.37 others(27): Show c.3740_*3741insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2567		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289854	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA18612.hp2 HG03209.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0103 a0001c0002t0001g0088 a0001c0001t0001g0103 a0001c0002t0001g0088	2	295	0.0068	16	c.37 others(27): Show c.3709_*3710insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2536		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289854	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 NA19240.hp1 HG01943.hp2 NA19240.hp1	a0001 a0001	a0001c0019 a0001c0020 a0001c0019 a0001c0020	a0001c0019t0002 a0001c0020t0002 a0001c0019t0002 a0001c0020t0002	a0001c0019t0002g0133 a0001c0020t0002g0110 a0001c0019t0002g0133 a0001c0020t0002g0110	2	295	0.0068	16	c.37 others(27): Show c.3709_*3710insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2536		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	16	c.36 others(27): Show c.3635_*3636insACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG03017.hp1 NA18951.hp1 HG00323.hp2 HG03017.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0199	3	295	0.0102	16	c.36 others(27): Show c.3635_*3636insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289966	C C	CCGTGTCC others(9): Show CCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	295	0.0034	16	c.35 others(27): Show c.3597_*3598insACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2424		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289966	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	295	0.0034	16	c.35 others(27): Show c.3597_*3598insACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2424		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289966	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA19043.hp1 NA18977.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0137 a0001c0001t0001g0105 a0001c0001t0002g0137	2	295	0.0068	16	c.35 others(27): Show c.3597_*3598insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2424		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289990	C C	CTCTGCTC others(9): Show CTCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	295	0.0034	16	c.35 others(27): Show c.3573_*3574insCACGGGACGGAGCAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2400		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(9): Show CCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02559.hp2 HG03486.hp1 others(2): Show HG00597.hp2 HG02559.hp2 HG03486.hp1 NA18975.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0004 a0001c0001t0002g0116 a0001c0001t0002g0130 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0116 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0002t0001g0087	5	295	0.0170	16	c.34 others(27): Show c.3435_*3436insACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1307280	G G	GCCACCCC others(9): Show GCCACCCCTCCAAGCCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	295	0.0034	16	c.47+ others(29): Show c.47+473_47+488dupGGGCTTGGAGGGGTGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	1/23			chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02717.hp1 HG02738.hp2 others(1): Show HG00140.hp2 HG02717.hp1 HG02738.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0040 a0001c0001t0001g0087 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0087 a0001c0001t0001g0148 a0002c0002t0002g0296	4	386	0.0104	16	c.73- others(29): Show c.73-550_73-535dupTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD3_chr1_226139679_226191741	226149529	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	396	0.0025	16	c.137 others(35): Show c.1376-2724_1376-2709dupAAAAAAAAAAAAAAAA	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	7/7			chr1	TogoVar
ACBD3_chr1_226139679_226191741	226172155	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0095	1	396	0.0025	16	c.287 others(33): Show c.287-6156_287-6155insTTTTTTTTTTTTTTTT	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7			chr1	TogoVar
ACBD5_chr10_27190214_27245797	27228791	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	384	0.0026	16	c.375 others(33): Show c.375+2941_375+2956dupTATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(9): Show ATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	384	0.0026	16	c.375 others(33): Show c.375+2932_375+2933insAAAATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(9): Show ATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0282 a0001c0002t0001g0282	1	384	0.0026	16	c.375 others(33): Show c.375+2932_375+2933insAAAAAATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19056.hp1 NA19060.hp2 others(2): Show HG03927.hp2 NA19056.hp1 NA19060.hp2 NA19075.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0236 a0001c0002t0001g0267 others(2): Show a0001c0002t0001g0227 a0001c0002t0001g0236 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269	5	384	0.0130	16	c.375 others(33): Show c.375+2932_375+2933insAAAAAAAATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar

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