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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	295	0.0034	54	c.44 others(65): Show c.4490_*4491insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3317		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289120	C C	CCTGCTCC others(47): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0112	1	295	0.0034	54	c.44 others(65): Show c.4443_*4444insAGACACGGGACGGGGCAGAGACACGGGACGGAGC AGGGACACGGGACGGAGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3270		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289161	T T	TCCGTCCC others(47): Show TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0035 a0008c0008t0001g0035	1	295	0.0034	54	c.44 others(65): Show c.4402_*4403insGGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGACACGGGGGACGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3229		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	295	0.0034	54	c.43 others(65): Show c.4376_*4377insACGGAGCAGGGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289213	C C	CTCTGCCC others(47): Show CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	295	0.0034	54	c.43 others(65): Show c.4350_*4351insCACGGGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGGGCAGA		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3177		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC CCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	295	0.0034	54	c.43 others(65): Show c.4338_*4339insACGGGGCAGGGACACGGGACGGGGCAGAGACACG GGGGACGGGGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	295	0.0034	54	c.42 others(65): Show c.4206_*4207insACGGAGCAGAGACACGGGGGACGGAGCAGACACG GGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	295	0.0034	54	c.42 others(65): Show c.4206_*4207insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCCCGTGT others(47): Show CCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0096 a0001c0002t0006g0096	1	295	0.0034	54	c.41 others(65): Show c.4168_*4169insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGGGCAGAGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0112	1	295	0.0034	54	c.41 others(65): Show c.4168_*4169insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGAATGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289494	T T	TGTCTCTG others(47): Show TGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	54	c.40 others(65): Show c.4069_*4070insGGGGGACGGAGCAGAGACACGGGACGGAGCAGAG ACACGGGACGGGGCAGAGAC		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2896		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289534	C C	CCTGCCCC others(47): Show CCTGCCCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	54	c.40 others(65): Show c.4029_*4030insACACGGGGGACGGAGCAGAGACACGGGACGGAGC AGACACGGGGGACGGGGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2856		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289569	C C	CTGCTCCG others(47): Show CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	295	0.0034	54	c.39 others(65): Show c.3994_*3995insCACGGGGGACGGAGCAGAGACACGGGGGACGGAG CAGGGACACGGGACGGAGCA		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2821		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCCCGTGT others(47): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	54	c.38 others(65): Show c.3892_*3893insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCC others(47): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	295	0.0034	54	c.38 others(65): Show c.3892_*3893insACGGAGCAGAGACTCGGGGGACGGAGCAGAGACA CGGGACGGAGCAGGGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	295	0.0034	54	c.38 others(65): Show c.3892_*3893insACGGAGCAGGGACACGGGACGGGGCAGAGACACG GGGGACGGGGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	295	0.0034	54	c.38 others(65): Show c.3836_*3837insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2663		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	54	c.37 others(65): Show c.3778_*3779insACGGAGCAGACACGGGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0089 a0001c0005t0002g0089	1	295	0.0034	54	c.37 others(65): Show c.3778_*3779insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGAATGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289817	T T	TCCGTCCC others(47): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	295	0.0034	54	c.37 others(65): Show c.3746_*3747insGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2573		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	295	0.0034	54	c.36 others(65): Show c.3635_*3636insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02572.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0063 a0001c0001t0001g0008 a0001c0001t0001g0063	2	295	0.0068	54	c.36 others(65): Show c.3635_*3636insACGGAGCAGAGACTCGGGGGACGGAGCAGGGACA CGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(47): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA19083.hp1 HG02027.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0002g0024 a0001c0001t0001g0014 a0001c0001t0002g0024	2	295	0.0068	54	c.34 others(65): Show c.3435_*3436insACGGAGCAGAGACACGGGGAATGGAGCAGAGACA CGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2262		chr1	TogoVar
ACCS_chr11_44061270_44089237	44074748	C C	CTTTCTTT others(47): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	438	0.0023	54	c.489 others(67): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTCTTT		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(47): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp2 HG01256.hp1 others(9): Show HG00558.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG02735.hp1 HG03942.hp2 NA18939.hp2 NA18957.hp2 NA18984.hp1 NA19056.hp2 NA19057.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002	a0002c0003t0001g0011 a0002c0003t0001g0039 a0002c0003t0001g0061 others(5): Show a0002c0003t0001g0011 a0002c0003t0001g0039 a0002c0003t0001g0061 a0002c0003t0001g0182 a0002c0003t0001g0226 a0002c0003t0001g0261 a0002c0003t0002g0011 a0002c0004t0002g0183	12	438	0.0274	54	c.489 others(67): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCTTTCTTT		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(47): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG01981.hp1 others(23): Show HG01192.hp1 HG01891.hp2 HG01981.hp1 HG02080.hp2 HG02523.hp2 HG03130.hp2 HG03471.hp1 HG04184.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18968.hp1 NA18986.hp2 NA18989.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19067.hp1 NA19074.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0004c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0022 a0001c0003t0006 a0001c0004t0004 a0001c0005t0001 a0004c0015t0004	a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0230 others(23): Show a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0230 a0001c0001t0001g0311 a0001c0001t0001g0359 a0001c0001t0001g0391 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0163 a0001c0002t0002g0191 a0001c0002t0005g0053 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0077 a0001c0002t0005g0079 a0001c0002t0005g0248 a0001c0002t0022g0193 a0001c0003t0006g0038 a0001c0004t0004g0034 a0001c0004t0004g0039 a0001c0004t0004g0041 a0001c0004t0004g0054 a0001c0004t0004g0075 a0001c0004t0004g0086 a0001c0005t0001g0021 a0004c0015t0004g0055	26	402	0.0647	54	c.122 others(71): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTT		ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(47): Show CTTTCTTTCTTTCTTTCTTTCCTTTCTTCCTTCCTTCCTTCCTTCCTTCC TTCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0133 a0001c0004t0004g0133	1	402	0.0025	54	c.122 others(71): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCTTTCCTTTCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTT		ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSF3_chr16_89088852_89161233	89117949	C C	CGGCAGGT others(47): Show CGGCAGGTTCCCTCGGGCGCCGGGGACGCTCCCTCTTCTCTAAGGCAGAA CCCAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0240 a0002c0003t0052g0240	1	368	0.0027	54	c.112 others(73): Show c.1127-2852_1127-2851insGGCAGGTTCCCTCGGGCGCCGGGGAC GCTCCCTCTTCTCTAAGGCAGAACCCAT		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	6/10						chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147528	G G	GGAGGAGG others(47): Show GGAGGAGGGAGGGTCCACAGAGTGAATGAGGGAGGAGGGAGGGGTCACAG AGTGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0240 a0002c0003t0052g0240	1	368	0.0027	54	c.161 others(73): Show c.1613+1480_1613+1481insAGGAGGGAGGGTCCACAGAGTGAATG AGGGAGGAGGGAGGGGTCACAGAGTGAG		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(47): Show GTGTGTGTATATATGTGTATATATATATATATATATATATATATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	284	0.0035	54	c.106 others(73): Show c.106-24791_106-24790insTATATATATATATATATATATATATA TATATATATATACACATATATACACACA		ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21						chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(47): Show GTGTGTGTGTGTGTGTGTGTGTATGTATATATATATATATATATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03579.hp1 others(2): Show HG03225.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0268 others(2): Show a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0268 a0001c0001t0001g0281 a0001c0002t0003g0188	5	284	0.0176	54	c.106 others(73): Show c.106-24791_106-24790insTATATATATATATATATATATATATA TATACATACACACACACACACACACACA		ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21						chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(47): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG01243.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0138 a0001c0002t0003g0208 a0001c0001t0001g0138 a0001c0002t0003g0208	2	284	0.0070	54	c.106 others(73): Show c.106-24791_106-24790insTATATATATATATATATATATATATA TACACACACACACACACACACACACACA		ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21						chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(47): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18986.hp2 HG01516.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0143 a0001c0001t0012g0019 a0001c0001t0003g0143 a0001c0001t0012g0019	2	344	0.0058	54	c.876 others(67): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATATATATATATATATATATA		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20						chr1	TogoVar
ACTN4_chr19_38642649_38736589	38673442	T T	TATATATA others(47): Show TATATATATATATTCATATATATTTATATATATGAATATATATTTATATA TATTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(71): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00733.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02523.hp2 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19070.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0019 a0001c0002 a0004c0019	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(6): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0031 a0001c0002t0034 a0001c0002t0035 a0001c0002t0041 a0001c0002t0050 a0004c0019t0052	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 others(71): Show a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0218 a0001c0002t0001g0276 a0001c0002t0005g0054 a0001c0002t0007g0023 a0001c0002t0007g0214 a0001c0002t0007g0215 a0001c0002t0007g0216 a0001c0002t0007g0217 a0001c0002t0007g0219 a0001c0002t0007g0220 a0001c0002t0031g0046 a0001c0002t0034g0045 a0001c0002t0035g0050 a0001c0002t0041g0007 a0001c0002t0050g0069 a0004c0019t0052g0031	74	314	0.2357	54	c.162 others(73): Show c.162+25567_162+25568insGAATATATATTTATATATATTCATAT ATATATATTCATATATATTTATATATAT		ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTR5_chr20_38743460_38777520	38748031	A A	AGGTGCGC others(47): Show AGGTGCGCGCCCGGCCGACGGTGCGCGCCCGGCCGACGGTGCGCGCCCGG CCGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	366	0.0027	54	c.-44 others(63): Show c.-448_-447insGGTGCGCGCCCGGCCGACGGTGCGCGCCCGGCCGAC GGTGCGCGCCCGGCCGAC		ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding					428		chr20	TogoVar
ACTRT3_chr3_169761921_169774561	169770600	T T	TATATAAA others(47): Show TATATAAAAATTTAAATTATATATTTATATTAAAATTTATATTTATAATA AATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	54	c.-10 others(65): Show c.-1081_-1080insTTATTTATTATAAATATAAATTTTAATATAAATA TATAATTTAAATTTTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1040		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771263	C C	CATATATA others(47): Show CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	54	c.-17 others(65): Show c.-1744_-1743insTATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1703		chr3	TogoVar
ADAM10_chr15_58583809_58754707	58655687	T T	TATAGTAT others(47): Show TATAGTATATATATATACTATATATAGTATATATATATACTATATATAGT GTGTA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03491.hp2 HG03492.hp1 others(5): Show HG02165.hp1 HG03491.hp2 HG03492.hp1 HG04228.hp2 NA18940.hp2 NA18942.hp1 NA18967.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0106 a0001c0001t0107 a0001c0001t0117 a0001c0002t0001	a0001c0001t0001g0109 a0001c0001t0001g0184 a0001c0001t0002g0145 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0184 a0001c0001t0002g0145 a0001c0001t0010g0130 a0001c0001t0106g0182 a0001c0001t0107g0181 a0001c0001t0117g0110 a0001c0002t0001g0117	8	342	0.0234	54	c.585 others(71): Show c.585+9409_585+9410insTACACACTATATATAGTATATATATATA CTATATATAGTATATATATATACTAT		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15						chr15	TogoVar
ADAM10_chr15_58583809_58754707	58655687	T T	TATAGTAT others(47): Show TATAGTATATATATATACTATATATAGTATATATATATACTATATATAGT GTGTG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18964.hp2 NA18960.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0010	a0001c0001t0001g0123 a0001c0002t0010g0118 a0001c0001t0001g0123 a0001c0002t0010g0118	2	342	0.0059	54	c.585 others(71): Show c.585+9409_585+9410insCACACACTATATATAGTATATATATATA CTATATATAGTATATATATATACTAT		ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15						chr15	TogoVar
ADAM12_chr10_126007391_126393477	126121102	T T	TTATATAT others(47): Show TTATATATAGTATATATAGTATATATAGTATATATAGTATATATAGTATA TATAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp1 HG01934.hp2 others(2): Show HG01123.hp2 HG01358.hp1 HG01934.hp2 HG02809.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0032 a0002c0001 others(1): Show a0001c0004 a0001c0032 a0002c0001 a0002c0006	a0001c0004t0002 a0001c0032t0008 a0002c0001t0049 others(1): Show a0001c0004t0002 a0001c0032t0008 a0002c0001t0049 a0002c0006t0005	a0001c0004t0002g0029 a0001c0004t0002g0069 a0001c0032t0008g0184 others(2): Show a0001c0004t0002g0029 a0001c0004t0002g0069 a0001c0032t0008g0184 a0002c0001t0049g0141 a0002c0006t0005g0241	5	252	0.0198	54	c.417 others(71): Show c.417-2879_417-2878insCTATATATACTATATATACTATATATAC TATATATACTATATATACTATATATA		ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22						chr10	TogoVar
ADAM29_chr4_174913358_174983180	174977850	T T	TCAGAGTC others(47): Show TCAGAGTCAACCTCCTGTGATGCCTTCCCAGAGTCATCCTCAGTTGACGC CTTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp1 HG00642.hp2 HG00735.hp2 others(52): Show HG00544.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01884.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02273.hp2 HG02486.hp2 HG03239.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 NA18939.hp1 NA18947.hp2 NA18949.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA19002.hp2 NA19010.hp2 NA19030.hp2 NA19060.hp1 NA19062.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 others(45): Show a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0101 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0150 a0002c0002t0001g0155 a0002c0002t0001g0168 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0237 a0002c0002t0002g0254 a0002c0002t0002g0262 a0002c0002t0002g0266 a0002c0002t0003g0042 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0004g0002 a0002c0002t0004g0075 a0002c0002t0004g0077 a0002c0002t0004g0080 a0002c0002t0004g0081 a0002c0002t0004g0083 a0002c0002t0004g0084 a0002c0002t0004g0086 a0002c0002t0004g0089 a0002c0002t0004g0093 a0002c0002t0004g0096 a0002c0002t0012g0049	55	330	0.1667	54	c.234 others(63): Show c.2345_2398dupTGCCTTCCCAGAGTCATCCTCAGTTGACGCCTTCCC AGAGTCAACCTCCTGTGA	p.Met others(13): Show p.Met782_Val799dup	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	3069/3325	2399/2463	800/820		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977937	G G	GCAACCTC others(47): Show GCAACCTCAGTTGATGCCTTCCCAGAGTCAACCTCCTGTGACGCCCTCCT AGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0002 a0004c0015t0002	a0004c0015t0002g0229 a0004c0015t0002g0229	1	330	0.0030	54	c.246 others(62): Show c.2461_*51dupTAGAGCCAACCTCAGTTGATGCCTTCCCAGAGTCAAC CTCCTGTGACGCCCTCC		ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5				52	INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAM29_chr4_174913358_174983180	174977937	G G	GCAACCTC others(47): Show GCAACCTCAGTTGATGCCTTCCCAGGGTCAACCTCCTGTGACGCCCTCCT AGAGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02886.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02886.hp1 HG02895.hp1 HG02897.hp1 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0022 a0005c0005t0002g0231 a0005c0005t0002g0235 a0005c0005t0002g0022 a0005c0005t0002g0231 a0005c0005t0002g0235	4	330	0.0121	54	c.243 others(63): Show c.2436_2437insGGTCAACCTCCTGTGACGCCCTCCTAGAGCCAACCT CAGTTGATGCCTTCCCAG	p.Gln others(67): Show p.Gln812_Ser813insGlyGlnProProValThrProSerTerSerGl nProGlnLeuMetProSerGln	ADAM29	ENSG00000168594.15	transcript	ENST00000359240.7	protein_coding	5/5	3107/3325	2437/2463	813/820		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAMTS17_chr15_99966437_100346975	100253352	A A	AGGGAGGG others(47): Show AGGGAGGGGAAGGTAGAGGGGGAGGGGAAGGTAGAGGGGGAGGGGAAGGT AGAGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0005 a0002c0022t0005	a0002c0022t0005g0181 a0002c0022t0005g0181	1	228	0.0044	54	c.107 others(71): Show c.1075+730_1075+783dupCCTCTACCTTCCCCTCCCCCTCTACCTT CCCCTCCCCCTCTACCTTCCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100253453	G G	GGTAGAGG others(47): Show GGTAGAGGGGGAGGGAAAGGTAGAGGGGGAGGGGAAGGTAGAGGGGGAGG GGAAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp1 HG02698.hp1 HG03017.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0016 a0002c0001 a0006c0016	a0002c0001t0002 a0006c0016t0059 a0002c0001t0002 a0006c0016t0059	a0002c0001t0002g0174 a0006c0016t0059g0096 a0002c0001t0002g0174 a0006c0016t0059g0096	2	228	0.0088	54	c.107 others(71): Show c.1075+682_1075+683insGTTCCCCTCCCCCTCTACCTTCCCCTCC CCCTCTACCTTTCCCTCCCCCTCTAC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100253471	G G	GGTAGAGG others(47): Show GGTAGAGGGGGAGGGGAAGGTAGAGGGGGAGGGGAACGTAGAGGGGGAGG GGAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(30): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG03017.hp2 HG04199.hp1 NA18943.hp1 NA18955.hp2 NA18964.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18993.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0005 a0001c0007 others(15): Show a0001c0002 a0001c0005 a0001c0007 a0001c0017 a0002c0001 a0002c0004 a0002c0029 a0002c0078 a0003c0006 a0003c0012 a0003c0015 a0004c0003 a0004c0008 a0004c0028 a0004c0054 a0004c0076 a0004c0077 a0005c0075	a0001c0002t0004 a0001c0002t0019 a0001c0005t0004 others(26): Show a0001c0002t0004 a0001c0002t0019 a0001c0005t0004 a0001c0005t0009 a0001c0007t0002 a0001c0007t0018 a0001c0017t0002 a0002c0001t0002 a0002c0001t0004 a0002c0001t0007 a0002c0001t0038 a0002c0001t0057 a0002c0004t0002 a0002c0004t0004 a0002c0029t0002 a0002c0078t0007 a0003c0006t0048 a0003c0012t0001 a0003c0012t0043 a0003c0015t0003 a0003c0015t0046 a0004c0003t0001 a0004c0008t0001 a0004c0008t0003 a0004c0028t0001 a0004c0054t0001 a0004c0076t0001 a0004c0077t0001 a0005c0075t0071	a0001c0002t0004g0081 a0001c0002t0019g0026 a0001c0005t0004g0104 others(30): Show a0001c0002t0004g0081 a0001c0002t0019g0026 a0001c0005t0004g0104 a0001c0005t0009g0030 a0001c0007t0002g0057 a0001c0007t0018g0046 a0001c0017t0002g0138 a0001c0017t0002g0156 a0002c0001t0002g0059 a0002c0001t0004g0108 a0002c0001t0007g0094 a0002c0001t0038g0051 a0002c0001t0057g0146 a0002c0004t0002g0167 a0002c0004t0004g0151 a0002c0029t0002g0067 a0002c0078t0007g0184 a0003c0006t0048g0134 a0003c0012t0001g0131 a0003c0012t0001g0225 a0003c0012t0043g0118 a0003c0015t0003g0041 a0003c0015t0046g0065 a0004c0003t0001g0069 a0004c0003t0001g0101 a0004c0003t0001g0136 a0004c0008t0001g0061 a0004c0008t0003g0024 a0004c0028t0001g0155 a0004c0054t0001g0080 a0004c0076t0001g0186 a0004c0077t0001g0185 a0005c0075t0071g0187	33	228	0.1447	54	c.107 others(71): Show c.1075+664_1075+665insGTTCCCCTCCCCCTCTACGTTCCCCTCC CCCTCTACCTTCCCCTCCCCCTCTAC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100253471	G G	GGTAGAGG others(47): Show GGTAGAGGGGGAGGGGAAGGTAGAGGGGGAGGGGAAGGTAGAGGGGGAGG GGAAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02895.hp2 others(2): Show HG01261.hp2 HG02572.hp1 HG02895.hp2 HG02965.hp1 NA19043.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0025 a0002c0050 others(2): Show a0001c0002 a0001c0025 a0002c0050 a0002c0051 a0006c0049	a0001c0002t0012 a0001c0025t0008 a0002c0050t0006 others(2): Show a0001c0002t0012 a0001c0025t0008 a0002c0050t0006 a0002c0051t0015 a0006c0049t0015	a0001c0002t0012g0106 a0001c0025t0008g0208 a0002c0050t0006g0107 others(2): Show a0001c0002t0012g0106 a0001c0025t0008g0208 a0002c0050t0006g0107 a0002c0051t0015g0090 a0006c0049t0015g0210	5	228	0.0219	54	c.107 others(71): Show c.1075+664_1075+665insGTTCCCCTCCCCCTCTACCTTCCCCTCC CCCTCTACCTTCCCCTCCCCCTCTAC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100253471	G G	GGTAGAGG others(47): Show GGTAGAGGGGGAGGGGAAGGTAGAGGGGGAGGGGAATGTAGAGGGGGAGG GGAAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18964.hp1 HG00621.hp2 NA18964.hp1	a0001 a0005 a0001 a0005	a0001c0017 a0005c0024 a0001c0017 a0005c0024	a0001c0017t0037 a0005c0024t0002 a0001c0017t0037 a0005c0024t0002	a0001c0017t0037g0047 a0005c0024t0002g0153 a0001c0017t0037g0047 a0005c0024t0002g0153	2	228	0.0088	54	c.107 others(71): Show c.1075+664_1075+665insGTTCCCCTCCCCCTCTACATTCCCCTCC CCCTCTACCTTCCCCTCCCCCTCTAC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100253495	G G	GGGGGAGG others(47): Show GGGGGAGGGGAACGTAGAGGGGGAGGGGAACGTAGAGGGGGAGGGGAACG TAGAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0045 a0001c0007t0018g0045	1	228	0.0044	54	c.107 others(71): Show c.1075+640_1075+641insTTCTACGTTCCCCTCCCCCTCTACGTTC CCCTCCCCCTCTACGTTCCCCTCCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21						chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(47): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp2 HG03130.hp2 others(1): Show HG02258.hp1 HG02886.hp2 HG03130.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0005 a0001c0001t0005 a0002c0004t0005	a0001c0001t0005g0056 a0001c0001t0005g0129 a0001c0001t0005g0221 others(1): Show a0001c0001t0005g0056 a0001c0001t0005g0129 a0001c0001t0005g0221 a0002c0004t0005g0097	4	226	0.0177	54	c.132 others(73): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACATATACATGTATAT		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr5	TogoVar

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