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
ACAP3_chr1_1287391_1312930	1288607	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	295	0.0034	36	c.49 others(47): Show c.4956_*4957insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3783		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288607	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	295	0.0034	36	c.49 others(47): Show c.4956_*4957insACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3783		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288607	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	295	0.0034	36	c.49 others(47): Show c.4956_*4957insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3783		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288653	C C	CTCTGCCC others(29): Show CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0171	1	295	0.0034	36	c.49 others(47): Show c.4910_*4911insCACGGGACGGAGCAGAGACACGGGGGACGGGGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3737		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288701	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	2	295	0.0068	36	c.48 others(47): Show c.4862_*4863insACGGAGCAGGGACACGGGACGGAGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3689		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288733	T T	TCCGTCCC others(29): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	295	0.0034	36	c.48 others(47): Show c.4830_*4831insGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3657		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288793	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	295	0.0034	36	c.47 others(47): Show c.4770_*4771insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3597		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288822	T T	TCTGCCCC others(29): Show TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	295	0.0034	36	c.47 others(47): Show c.4741_*4742insGGACACGGGACGGAGCAGAGACACGGGACGGGGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3568		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288894	C C	CCTGCCCC others(29): Show CCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	295	0.0034	36	c.46 others(47): Show c.4669_*4670insAGACACGGGACGGGGCAGGGACACGGGACGGGGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3496		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288923	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	295	0.0034	36	c.46 others(47): Show c.4640_*4641insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3467		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288928	T T	TGTCTCTG others(29): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0179 a0001c0015t0001g0179	1	295	0.0034	36	c.46 others(47): Show c.4635_*4636insGGGGGACGGAGCAGAGACACGGGACGGAGCAGAG AC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288943	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0171	1	295	0.0034	36	c.46 others(47): Show c.4620_*4621insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3447		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	295	0.0034	36	c.45 others(47): Show c.4528_*4529insACGGGGCAGGGACACGGGACGGGGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	295	0.0034	36	c.45 others(47): Show c.4528_*4529insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCATTCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	295	0.0034	36	c.44 others(47): Show c.4490_*4491insACGGAGCAGAGACACGGGGAATGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	295	0.0034	36	c.44 others(47): Show c.4490_*4491insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	295	0.0034	36	c.43 others(47): Show c.4376_*4377insACGGAGCAGAGACACGGGACGGGGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	295	0.0034	36	c.43 others(47): Show c.4376_*4377insACGGAGCAGACACGGGGGACGGAGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	295	0.0034	36	c.43 others(47): Show c.4376_*4377insACGGAGCAGGGACACGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289196	T T	TCTGCCCC others(29): Show TCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0155 a0001c0022t0001g0155	1	295	0.0034	36	c.43 others(47): Show c.4367_*4368insGGACACGGGACGGGGCAGAGACACGGGACGGGGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3194		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18977.hp2 HG06807.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0137 a0001c0001t0001g0008 a0001c0001t0002g0137	2	295	0.0068	36	c.43 others(47): Show c.4338_*4339insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	295	0.0034	36	c.43 others(47): Show c.4300_*4301insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289326	C C	CCTGCTCC others(29): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	295	0.0034	36	c.42 others(47): Show c.4237_*4238insAGACACGGGACGGAGCAGGGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3064		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	295	0.0034	36	c.42 others(47): Show c.4206_*4207insACGGAGCAGGGACACGGGACGGAGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0133 a0001c0019t0002g0133	1	295	0.0034	36	c.42 others(47): Show c.4206_*4207insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	295	0.0034	36	c.42 others(47): Show c.4206_*4207insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	295	0.0034	36	c.41 others(47): Show c.4168_*4169insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289433	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0035 a0008c0008t0001g0035	1	295	0.0034	36	c.41 others(47): Show c.4130_*4131insACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2957		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289451	T T	TCCCGTGT others(29): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	295	0.0034	36	c.41 others(47): Show c.4112_*4113insGGACGGAGCAGACACGGGACGGAGCAGAGACACG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2939		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289465	C C	CCCGTCCC others(29): Show CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	36	c.40 others(47): Show c.4098_*4099insAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2925		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	295	0.0034	36	c.40 others(47): Show c.4092_*4093insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289498	T T	TCTGCTCC others(29): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	295	0.0034	36	c.40 others(47): Show c.4065_*4066insGGACACGGGACGGAGCAGAGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2892		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289509	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0197 a0001c0010t0001g0197	1	295	0.0034	36	c.40 others(47): Show c.4054_*4055insACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2881		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	295	0.0034	36	c.38 others(47): Show c.3892_*3893insACGGAGCAGAGACACGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0134 a0001c0003t0002g0134	1	295	0.0034	36	c.38 others(47): Show c.3892_*3893insACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	36	c.38 others(47): Show c.3892_*3893insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289747	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	295	0.0034	36	c.38 others(47): Show c.3816_*3817insACGGGGCAGAGACACGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2643		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	295	0.0034	36	c.37 others(47): Show c.3778_*3779insACGGAGCAGAGACACGGGGGACGGAGCAGGGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	295	0.0034	36	c.36 others(47): Show c.3635_*3636insACGGAGCAGAGACACGGGGAATGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289966	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	295	0.0034	36	c.35 others(47): Show c.3597_*3598insACGGAGCAGAGACACGGGGAATGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2424		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289972	G G	GTCTGCTC others(29): Show GTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	295	0.0034	36	c.35 others(47): Show c.3591_*3592insGACACGGGACGGAGCAGAGACACGGGACGGAGCA GA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2418		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290081	T T	TCTGCTCC others(29): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	295	0.0034	36	c.34 others(47): Show c.3482_*3483insGGACACGGGACGGAGCAGGGACACGGGACGGAGC AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2309		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290122	T T	TCCGTCCC others(29): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	295	0.0034	36	c.34 others(47): Show c.3441_*3442insGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2268		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCCCGAGT others(29): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	295	0.0034	36	c.34 others(47): Show c.3435_*3436insACGGAGCAGAGACACGGGACGGAGCAGAGACTCG GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	295	0.0034	36	c.34 others(47): Show c.3435_*3436insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02602.hp1 NA18973.hp2 HG02015.hp1 HG02602.hp1 NA18973.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0014 a0001c0001 a0001c0003 a0006c0014	a0001c0001t0002 a0001c0003t0002 a0006c0014t0002 a0001c0001t0002 a0001c0003t0002 a0006c0014t0002	a0001c0001t0002g0121 a0001c0003t0002g0107 a0006c0014t0002g0140 a0001c0001t0002g0121 a0001c0003t0002g0107 a0006c0014t0002g0140	3	295	0.0102	36	c.34 others(47): Show c.3435_*3436insACGGAGCAGAGACACGGGGAATGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	295	0.0034	36	c.34 others(47): Show c.3435_*3436insACGGAGCAGAGACTCGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290158	G G	GCTCCGTC others(29): Show GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 NA19000.hp2 HG01358.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0001 a0001c0001t0002g0024	2	295	0.0068	36	c.34 others(47): Show c.3405_*3406insTAGGGACACGGGACGGAGCAGAGACACGGGACGG AG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2232		chr1	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp2 HG01168.hp2 others(17): Show HG00140.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01993.hp1 HG02886.hp1 HG02976.hp2 HG03139.hp1 HG03239.hp2 NA18948.hp1 NA18951.hp1 NA18969.hp2 NA18984.hp2 NA19043.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19088.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0002 a0001c0001 a0002c0004 a0003c0002	a0001c0001t0004 a0002c0004t0001 a0002c0004t0010 others(3): Show a0001c0001t0004 a0002c0004t0001 a0002c0004t0010 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003	a0001c0001t0004g0108 a0002c0004t0001g0066 a0002c0004t0001g0078 others(12): Show a0001c0001t0004g0108 a0002c0004t0001g0066 a0002c0004t0001g0078 a0002c0004t0001g0080 a0002c0004t0001g0189 a0002c0004t0001g0244 a0002c0004t0010g0079 a0003c0002t0001g0051 a0003c0002t0001g0207 a0003c0002t0001g0218 a0003c0002t0001g0269 a0003c0002t0002g0012 a0003c0002t0002g0054 a0003c0002t0002g0229 a0003c0002t0003g0280	20	438	0.0457	36	c.489 others(49): Show c.489+59_489+94dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACE2_chrX_15556033_15605960	15593391	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp2 NA20300.hp2 HG01884.hp1 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0002g0040 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0002g0040	3	264	0.0114	36	c.346 others(53): Show c.346-1070_346-1069insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	2/17			chrX	TogoVar

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