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
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(515): Show GGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGTGTGG GGGCTCCCGCGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGC GGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGG GGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCTTCCGC GGGGGTGTGGGGGCGTCTGCGGGTATCTGGGGGCTTCCGCGGGGGTGTGG GGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGC GGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGG GGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGGGCGTCTGCGGGGGTGT GGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCC GCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp1 HG02630.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0115 a0001c0001t0001g0117	2	286	0.0070	522	c.539 others(537): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAG CCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATA CCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCAGACGCCCCCAGATACCCACGGGAGCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(515): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	334	0.0030	522	c.838 others(537): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(515): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	334	0.0030	522	c.838 others(537): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(515): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	334	0.0030	522	c.838 others(537): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349979	G G	GGAAGGCA others(515): Show GGAAGGCAGGGAGGGAGGTGAAGGCAGGGAGGCAGGGGAAGGCAAGGAGG CAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGG GAGGGGAAGGCAAGGAGGCAGGA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	334	0.0030	522	c.838 others(537): Show c.838-783_838-782insTCCTGCCTCCTTGCCTTCCCCTCCCTCTCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTT GCCTTCCCCTGCCTCCCTGCCTTCACCTCCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349987	G G	GGGAGGGA others(515): Show GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGAGAGGGAGGGGAAGGGAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	334	0.0030	522	c.838 others(537): Show c.838-791_838-790insTTCCCTTCCCCTCCCTCTCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349993	C C	CAGGAGAA others(515): Show CAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	334	0.0030	522	c.838 others(537): Show c.838-797_838-796insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350011	G G	GAGGGGAA others(515): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	334	0.0030	522	c.838 others(537): Show c.838-815_838-814insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(515): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAAGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	334	0.0030	522	c.838 others(537): Show c.838-851_838-850insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(515): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19240.hp1 HG02523.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0275 a0001c0001t0001g0125 a0001c0001t0001g0275	2	334	0.0060	522	c.838 others(537): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(515): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	334	0.0030	522	c.838 others(537): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(515): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	334	0.0030	522	c.838 others(537): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(515): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCG GGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACGGGA GCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGGAGC CTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAGCCT GCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGC AGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0224 a0002c0010t0007g0224	1	266	0.0038	522	c.297 others(539): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGCCCCGC TCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTG TGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGTGT CTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTATCG GTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375005	G G	GAGGAGGA others(515): Show GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGT GGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGGAGGAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	184	0.0054	522	c.784 others(537): Show c.784-453_784-452insAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(515): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGT CTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCG GTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGG CGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGG GGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTG CCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAG GAGGGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0032 a0002c0011t0002g0032	1	360	0.0028	522	c.92- others(535): Show c.92-787_92-786insATGTCTCGGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCA GCGGAGGAGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGG GGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGT GCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGA GGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTC TCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGG TGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGG GGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C4orf19_chr4_37448925_37598510	37585376	G G	GTGTTGAG others(515): Show GTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGA GAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAG GGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTT GAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGGTGGAGGAGAGGT ATTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGG AGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0340 a0001c0001t0031g0340	1	354	0.0028	522	c.-22 others(539): Show c.-22-3459_-22-3458insAGGAGGGGAGATCAGAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAT CAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGGTG GAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTT GAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585380	T T	TGAGGGAG others(515): Show TGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGG GAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCG AGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAA AGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18943.hp2 HG00609.hp1 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0226 a0002c0002t0004g0286 a0002c0002t0004g0226 a0002c0002t0004g0286	2	354	0.0057	522	c.-22 others(539): Show c.-22-3459_-22-3458insAGGAGGGGAGAGGAGAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGA GGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG ATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATC GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA AAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585494	A A	ATTGAGGG others(515): Show ATTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGA GGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGA GGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAG AGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGT TGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGG AGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAG GGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGG GAGGGGAGGGGAGAGGAGAGGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	354	0.0028	522	c.-22 others(539): Show c.-22-3327_-22-3326insGGTATTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTG TTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGA GGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAG GGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAG GTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1190953	T T	TTGTGTGG others(515): Show TTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGCCC TGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGC CTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAGGCT GGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAG GCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTTACTCAG CAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCA GCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTTAC TCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTCGGGGTCTCTGA CCCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTCGGGGTTTCGG TGACCCAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCT CTGACCCAGCAGGCTGGCCTGGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0289 a0002c0011t0001g0289	1	338	0.0030	522	c.300 others(539): Show c.300-3590_300-3589insCGGCACACTCGGGGTTTCGGTGACCCAG CAGGCTGCCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCA GCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGAC CCAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGA CCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTC TGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCT CTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG TCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTC GGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACA CTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191035	C C	CTGACCCA others(515): Show CTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTC TCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGG GTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTC GGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACT CGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCA CACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCG GCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCC GGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTC AGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGC CTCAGGCACACTCAGGGTTTTGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp1 NA18943.hp1 others(6): Show HG02129.hp1 HG02155.hp1 NA18943.hp1 NA18950.hp1 NA18951.hp1 NA19000.hp2 NA19009.hp1 NA19057.hp2 NA19081.hp1	a0001 a0006 a0037 others(1): Show a0001 a0006 a0037 a0076	a0001c0001 a0006c0004 a0037c0081 others(1): Show a0001c0001 a0006c0004 a0037c0081 a0076c0126	a0001c0001t0001 a0001c0001t0005 a0006c0004t0004 others(2): Show a0001c0001t0001 a0001c0001t0005 a0006c0004t0004 a0037c0081t0001 a0076c0126t0001	a0001c0001t0001g0051 a0001c0001t0001g0112 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0281 a0001c0001t0005g0249 a0006c0004t0004g0187 a0037c0081t0001g0088 a0076c0126t0001g0169	9	338	0.0266	522	c.300 others(539): Show c.300-3830_300-3829insTACTCAGCAGGCTGGCCTGGCTGTGTGG CCTCCGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTG GCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGT GGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTG TGTGGCCTCAGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGG CTGTGTGGCCTCCGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTG GCTGTGTGGCCTCCGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCT GGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGG CCTGGTTGTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGC TGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCA GGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP61_chr20_20047532_20365698	20356916	A A	AGTGTGAG others(515): Show AGTGTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAG GGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTA GTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACAGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp1 HG02257.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0114 a0002c0002t0005g0137 a0002c0002t0005g0114 a0002c0002t0005g0137	2	236	0.0085	522	c.351 others(541): Show c.3514-3294_3514-3293insGTGTGAGGGGAGGTGGTCATACTGTG AGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGG TAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACT GAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGT GGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGAGGAGGTGGTCACACTGA GGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGG TCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356977	T T	TGTGAGTG others(515): Show TGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTG GAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCA CACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGG AAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGAGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGATGGTCACACTGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	236	0.0042	522	c.351 others(541): Show c.3514-3232_3514-3231insTGAGTGAGGAGGTAGTCACACTGAGG GGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAG TCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC AGTGTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGG GAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1333418	C C	CAGGATGA others(515): Show CAGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAG GGGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAT ACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGG ATAAGGGGAGACTACTGTATACACACCGGATGAGGATAAGGGGAGACTAC TGTATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGA GGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGGAC TACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACC GGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGAGGATGAGGG ACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACA CCAGATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGATA AGGGGGGACTACTGTATACACAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0226 a0001c0001t0001g0167 a0001c0001t0001g0226	2	370	0.0054	522	c.891 others(537): Show c.891+870_891+871insATGTGTATACAGTAGTCCCCCCTTATCCTC ATCCCGTGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCAT CCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGT ATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCT CCCCTTATCCTCATCCGGTGTGTATACAGTAGTCTCCCCTTATCCTCATC CGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCCCCTTATCC TCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(515): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG TGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGG AGTGAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0044 a0001c0006t0003g0044	1	336	0.0030	522	c.341 others(539): Show c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC CCATACACACACACACCCATACTCACACTCCCATACACACACACTCACTC CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT ACACACACACCCATACTCACACTCCCATACTCACTCCCATACACACACCC ATACTCACACTCCCATACACACACACCCATACACTCCCATACACACTCCC ATACACAACCCATACTCACACTCACTCCCATACACACACACCCATACACT CCCATACACACACTCACTCCCATACACCCATACACACATCCATACTCACA CTCCCATACACACACTCCCATACACACACACCCATACACAGTCATACACA CACCCCATACACTCCCATACACACACACTCTCCCATACACACACCCATAC TCACACTCCCATACACACACCCATACGCACACTCCCACTCACACTCACTC CCATACACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
CUL4A_chr13_113204613_113272108	113232039	C C	CCACCACT others(515): Show CCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	396	0.0025	522	c.513 others(539): Show c.513-1099_513-1098insTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(515): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGG GAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGG GGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0076 a0002c0002t0004g0076	1	216	0.0046	522	c.923 others(541): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCC CTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCA TTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(515): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCTCACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCC ACCCTCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	320	0.0031	522	c.39 others(533): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(515): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC CCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCC ACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	320	0.0031	522	c.39 others(533): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DNAH10_chr12_123757301_123940714	123911580	G G	GGGGGGTC others(515): Show GGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGT CTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCC TGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAG GGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATC TGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGGTCTGTCC TGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTTTGTCCTGGGAG GGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGG GGTCTGTCCTGGGGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGGG GTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGGGGTCT GTCCTGGGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20300.hp2 HG01243.hp2 NA20300.hp2	a0041 a0066 a0041 a0066	a0041c0060 a0066c0095 a0041c0060 a0066c0095	a0041c0060t0001 a0066c0095t0001 a0041c0060t0001 a0066c0095t0001	a0041c0060t0001g0043 a0066c0095t0001g0169 a0041c0060t0001g0043 a0066c0095t0001g0169	2	170	0.0118	522	c.101 others(541): Show c.10134+913_10134+914insTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTG TCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGG GTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCT GTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTG GGGGGTTTGTCCTGGGAGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGGGGTTTGTCCTGGGGG GGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH17_chr17_78418697_78582396	78438438	A A	AGGAGGAG others(515): Show AGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAG GGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGG GAGGAGGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGA GGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG GAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAG GAGGAGGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp2 HG02922.hp1 HG03098.hp2	a0113 a0137 a0113 a0137	a0113c0210 a0137c0197 a0113c0210 a0137c0197	a0113c0210t0001 a0137c0197t0001 a0113c0210t0001 a0137c0197t0001	a0113c0210t0001g0118 a0137c0197t0001g0110 a0113c0210t0001g0118 a0137c0197t0001g0110	2	252	0.0079	522	c.118 others(541): Show c.11806-571_11806-570insCTCCTCCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCC CCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCCC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTC CTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400949	A A	ACCACCAC others(515): Show ACCACCACCACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCAC CACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCAGCATCTTCACCATCACCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCACCTCCACCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCACCATCACCACCACCTCCACCATCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCA TCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0001 a0004c0041t0001	a0004c0041t0001g0246 a0004c0041t0001g0246	1	256	0.0039	522	c.323 others(541): Show c.3234+1729_3234+1730insTCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCTCCACCACCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCA TCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCTCCACCATCACCACCTCCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EBF2_chr8_25836725_26050413	26005369	T T	TATATAAT others(515): Show TATATAATATATATAATATATAATTATATAAAATATATAATATATTATAT ATTATATATATTATATAAATATATAATATATTATATATAATTATATAAAT ATATAATATATTACATATAATTATATATTATATATTATATATAATATATA ATTATATGTAATATATTATATATATTATATATTATATATATAATATATAT AATATATTTTATATATTAAATTATATATAATATATATTATATATAATTTA TATATATAAAATATATTATATATTATATAAATATATATATTTTATATATA TAAAATATATATTTTATAATATATAATATAGAAATATATATTATATAATA TATAATTATATATAATTATATATTATATAATATATATTTCTATATTATAT ATTTATAATGTATAATATATAAATATATTATAAATATATATTATATACTA TATAATGCATTATAAATATATTATATTTATATATTATAAATATATTACAT ATTTATATATTATATATATAATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0198 a0001c0002t0016g0198	1	220	0.0046	522	c.551 others(541): Show c.551+27715_551+27716insTATTATATATATAATATATAAATATG TAATATATTTATAATATATAAATATAATATATTTATAATGCATTATATAG TATATAATATATATTTATAATATATTTATATATTATACATTATAAATATA TAATATAGAAATATATATTATATAATATATAATTATATATAATTATATAT TATATAATATATATTTCTATATTATATATTATAAAATATATATTTTATAT ATATAAAATATATATATTTATATAATATATAATATATTTTATATATATAA ATTATATATAATATATATTATATATAATTTAATATATAAAATATATTATA TATATTATATATATAATATATAATATATATAATATATTACATATAATTAT ATATTATATATAATATATAATATATAATTATATGTAATATATTATATATT TATATAATTATATATAATATATTATATATTTATATAATATATATAATATA TAATATATTATATATTTTATATAATTATATATTATATATATTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
ICA1_chr7_8108184_8267167	8152725	T T	TCACCACC others(515): Show TCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACC ACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCAT CTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCA TCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACC ACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTC CTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCA CCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACT ATCACCATCACCATCACCTCCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02451.hp2 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0074 a0001c0003t0003g0075	2	274	0.0073	522	c.804 others(539): Show c.804+4390_804+4391insGTGGAGGTGATGGTGATGGTGATAGTGG TGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATG GTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGAT AATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGG AAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGT GGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGTTGGA others(515): Show TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGTTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	376	0.0027	522	c.666 others(539): Show c.666-4774_666-4773insTCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(515): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGTGTGGA ACCAATACATATGTGGAACTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GACCATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAA CCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGACC ATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAA TACATATGTGGACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	522	c.-32 others(533): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGA ACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAA CATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAACCA ATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATA CATGTGTGGAACCAATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132622290	A A	ATGTTAGA others(515): Show ATGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTT ACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAG ACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGG ATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGC GTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAA TATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAAC TTGAGAAATATACCGCATTCGTGGATTGGAAGACTCAGTTACGCTGACGT GTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTAC GCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGAC TCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGAT TGGAAGACTCAGTTACGCTGACG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	204	0.0049	522	c.117 others(541): Show c.117+14649_117+14650insATTCGTGGATTGGAAGACTCAGTTAC GCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGAC TCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGAT TGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGT TCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATA TACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTT GAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGT TAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGC TGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTC AGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTG GAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622290	A A	ATGTTAGA others(515): Show ATGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTT ACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAG ACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGG ATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGC GTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAA TATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAAC TTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGT GTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTAC GCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGAC TCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGAT TGGAAGACTCAGTTACGCTGACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03139.hp1 HG02109.hp2 HG02145.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0016g0076 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0016g0076	3	204	0.0147	522	c.117 others(541): Show c.117+14475_117+14996dupCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622561	A A	AAGACTCA others(515): Show AAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCG TGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATAC CGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAG AAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAG AACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGA CGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGT TACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGA GACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTG GATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG CGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0035 a0001c0005t0019g0035	1	204	0.0049	522	c.117 others(541): Show c.117+14894_117+14895insGAGACTCAGTTACGCTGACGTGTTAG AACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGA CGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGT TACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGA GACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTG GATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622619	A A	AAGACTCA others(515): Show AAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCG TGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATAC CGCGTTCGTGGATTGGAAGACTCAGTTATGCTGACGTGTTAGAACTTGAG AAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACACTGACGTGTTAG AACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGA CGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGT TACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGA GACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTG GATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG CGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0146 a0001c0004t0021g0146	1	204	0.0049	522	c.117 others(541): Show c.117+14790_117+14791insTGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACACTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTG AGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTT AGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622619	A A	AAGACTCA others(515): Show AAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCG TGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATAC CGCGTTCGTGGATTGGAAGACTCAGTTATGCTGACGTGTTAGAACTTGAG AAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAG AACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGA CGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGT TACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGA GACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTG GATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG CGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0166 a0001c0004t0012g0166	1	204	0.0049	522	c.117 others(541): Show c.117+14790_117+14791insTGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTG AGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTT AGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622805	C C	TGCTGACG others(515): Show TGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGAAGACTCAGTTAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	204	0.0049	522	c.117 others(541): Show c.117+14848_117+14849insTGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTG AGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTT AGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(515): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACATGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp2 HG00323.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0007 a0001c0001t0001g0010	2	204	0.0098	522	c.117 others(541): Show c.117+14971_117+14972insATGTTAGAACTTGAGAAATATACCGC GTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAA TATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAAC TTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGT GTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTAC GCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGAC TCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGAT TGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGT TCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATA TACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTT GAGAAATATACCGTGTTCGTGGATTGGAAGACTCAGTTACGCTGAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(515): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCATTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	204	0.0049	522	c.117 others(541): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCATTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGTGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(515): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00639.hp2 others(78): Show HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18990.hp2 NA19000.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19087.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0002c0002 a0002c0010 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0003t0002 a0001c0005t0002 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0002c0010t0002 a0002c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0184 a0001c0001t0007g0131 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0011g0141 a0001c0001t0011g0142 a0001c0001t0013g0024 a0001c0001t0015g0140 a0001c0003t0002g0189 a0001c0005t0002g0039 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 a0001c0008t0001g0085 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0090 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0010t0002g0100 a0002c0012t0002g0005	81	204	0.3971	522	c.117 others(541): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGTGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(515): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGATGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG01361.hp1 others(4): Show HG00544.hp1 HG01109.hp1 HG01361.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02148.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0054 a0002c0002t0001g0053 a0002c0002t0001g0055 others(4): Show a0001c0001t0001g0054 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0062 a0002c0002t0001g0118 a0002c0002t0001g0158	7	204	0.0343	522	c.117 others(541): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGATGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGTGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(515): Show CGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03195.hp2 HG01069.hp1 HG01071.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013	3	204	0.0147	522	c.117 others(541): Show c.117+14952_117+14953insGAGACTCAGTTACGCTGACGTGTTAG AACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGA CGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGT TACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGA GACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTG GATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGTGTTCGTGGATTGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(515): Show CGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0014 a0001c0004t0002g0014	1	204	0.0049	522	c.117 others(541): Show c.117+14952_117+14953insGAGACTCAGTTACGCTGACGTGTTAG AACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGTTACGCTGA CGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGAGACTCAGT TACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGGA GACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTG GATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG CGTTCGTGGATTGGGAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGTGTTCGTGGATTGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAGA others(515): Show TAAGAAGAAAAGAAAAGAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAACGAAACGAAACGAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0031 a0002c0003t0003g0031	1	308	0.0033	522	c.127 others(541): Show c.1278+2116_1278+2117insTTCGTTTCGTTTCGTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTTTTTCTTTTCTTTTCTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TCACCACC others(515): Show TCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCATCACCATTATCACCACCACCATCACCACCATCACCA CCACCACCATCACCATCACCACCACCATCACCATTATCACCACCACCATC ACCACCATCACCATCACCACCACCACCATCACCATCACCATTACCACCAC CATTACCACCACCATCACCATCACCATCACCACCACCACCACCACCATCA CCACCATCACCATCACCATTATCACCACCACCATCACCACCATCACCATC ACCACCACCACCATCACCATCACCATTACCACCACCACCATCACCACCAT CACCATCACCACCACCACCATCACCATCACCATCACCACCACCACCATCA CCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACCACC ATCACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0096 a0001c0002t0096	a0001c0002t0096g0039 a0001c0002t0096g0039	1	330	0.0030	522	c.691 others(537): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGGTG GTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGG TGATGGTGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTG ATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGG TAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTG GTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATG GTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(515): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0106	1	375	0.0027	522	c.317 others(539): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)