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
ANO2_chr12_5557655_5950259	5932324	A A	ATAGACTA others(437): Show ATAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAG AAGGCAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGG TAAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGAT AGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAA GGTAGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTA AGAAAGTGACTAATAAGGAAAGAAGGTAGACGACTGAGGAAAGAAGACAG ACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGG CAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAAG AAAGTGACTAATAAGCAAAGAAGGTAGACGAGTGAGGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	162	0.0062	444	c.23- others(459): Show c.23-9521_23-9520insCCTTCTTTCCTCACTCGTCTACCTTCTTTG CTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCT TTCCTCACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCT TCCTTCCTTACTAGTCTGTCTTCTTTCCTCAGTCGTCTACCTTCTTTCCT TATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTT CCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTC CTTCCTTACTAGTCTATCTTCTTTCCTCACTCGTCTGCCTTCTTTCCTTA TTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCC TCACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCT TCCTTACTAGTCTA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(437): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGT GGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGG GGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGC GGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGG GGGGGCGTCTGCGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	286	0.0035	444	c.539 others(459): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCCACACC CCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGA TACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGG AGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGA AGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGA TACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGA CGCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGT CTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGT GTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTC CCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTAT CTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGC TTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCG CAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCC CCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACC CGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCC CCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGGT GTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTC CCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTAT CTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGC TTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCG CAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCC CCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACC CGCGGACGCCCCCACACCCCCCGCGGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAAGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCCAGATACCCGCGGACGCCCCCACACCCCC GCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCC CCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCC GCGGACGCCCCCACACCCTTGCAGAAGCCCCCAGATACCCGCGGACGCCC CCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCC GCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGC CCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATAC CCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGC TTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0061 a0010c0014t0001g0061	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCC GCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGC CCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATAC CCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCC GCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGC CCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATAC CCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGGCGGACGCCC CCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCC GCGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCC CCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCC GCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGC CCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATAC CCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCCACGGGAGCCCCCACACCCCCGCGGACGCCC CCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCC GCGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCC CCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCC GCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGC CCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATAC CCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCCACACCCCCGCGGACGCCC CCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCC GCGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCC CCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCC GCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGC CCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATAC CCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(437): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGT GTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTC CCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTAT CTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGC TTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	286	0.0035	444	c.539 others(459): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCG CAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCC CCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACC CGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCC CCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431597	T T	TTCTGCAG others(437): Show TTCTGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGG GTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGT ATCTGGGGGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGG GCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGATGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGG GCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01074.hp2 others(19): Show HG00280.hp2 HG00438.hp2 HG01074.hp2 HG01123.hp1 HG01257.hp1 HG01516.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03834.hp2 NA18962.hp2 NA18984.hp1 NA19005.hp2 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0027 others(19): Show a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0071 a0002c0002t0001g0075 a0004c0004t0001g0034 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0053	22	286	0.0769	444	c.539 others(457): Show c.539+96_539+97insCGCCCCCAGATACCCGCGGGTGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATG CCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGA TACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGA CGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGA AGCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCA GATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACG GGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCA CACCCCTGCAGA	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(437): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCTCGCACCCCACCTGCCCCCCCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCCGCAC CCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0188 a0002c0031t0001g0188	1	363	0.0028	444	c.-48 others(459): Show c.-48+959_-48+960insCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCTCGCACCCCACCTGCCCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCCGCACC CCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGT TTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACT CCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(437): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCCACCTGTCCCCCCC GCACCCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCTGCACCCCACCTGTCCACCTGCACCCCACCTGTCCCTCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0285 a0002c0028t0001g0285	1	363	0.0028	444	c.-48 others(459): Show c.-48+921_-48+922insCACACCCCACCTGTTCACCCGCACTCCACC TGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCTCCGCACCCCCACCTGTCCCCCCCGCACCCCCACCTG TCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTTCACCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCAC CTGTCCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACC CCAGCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARSH_chrX_3001546_3039111	3037064	A A	AATATATA others(437): Show AATATATATATTATATATATAAAATATTATATATAATATTATATATAATA TATATTATATATTATAAAATATTATATATAATATTATATATAAAATATAT ATAATATATATAATATATATATTATATATAAAATATATATAATATATATA ATATATATATTATATATATAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TATTATATATATAAAATATATATAATATATATAATATATATATTATATAT AAAATATATATAATATATATATTATATATAAAATATATATAATATATATA ATATATATATTATATATAAAAATATATATAATATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0093 a0001c0002t0006g0093	1	248	0.0040	444	c.36 others(455): Show c.3679_*3680insATATATATATTATATATATAAAATATTATATATA ATATTATATATAATATATATTATATATTATAAAATATTATATATAATATT ATATATAAAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATAATATATATATTATATATATAATATATATAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATAATATATATATTATATATAAAA TATATATAATATATATATTATATATATAAAATATATATAATATATATAAT ATATATATTATATATAAAATATATATAATATATATATTATATATAAAATA TATATAATATATATAATATATATATTATATATAAAAATATATATAATATA TATAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2954		chrX	TogoVar
ASAP2_chr2_9201812_9410678	9406174	T T	TCTTCCTC others(437): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTC ACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGC CTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0012 a0002c0001t0001g0012	1	210	0.0048	444	c.28 others(455): Show c.2847_*2848insCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGGCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGT GACATCTAGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		497		chr2	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(437): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATGTATGATATATAAATATATATTTGT ATGATATATAAATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATTTGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATATTTGTATGATATATAAATATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATACAAATATATATT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	410	0.0024	444	c.671 others(461): Show c.671-1369_671-1368insAATATATATTTGTATATCATACAAATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATTTATATATCATACAAATATATATTTATATATCATACATATATAT TTATATGTCATACAAATATATATATTTATATGTCATACAAATATATATAT TTATATGTCATACAAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
BAHCC1_chr17_81390457_81471331	81426208	A A	ATGATGTG others(437): Show ATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAG TCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGG TGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTGGTGGTGATAGTCGTGGGTGAT GTGGTTGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGGTGG GTGATGTGCTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGTGATGTG GTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATGGTGGGTGAT GTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTAATGTGGTTG GTGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTTATGTGGTTGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0266 a0004c0004t0002g0266	1	332	0.0030	444	c.179 others(459): Show c.179-548_179-547insGATAGTCGTGGGTGATGTGGTTGGGGGTGA TAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGG TGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGT GGTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGTGATAGTGGTGGGTG ATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGCTTGGGGGTGATAGTGG TGGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGGTGGGTGAT GTGGTTGGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGT GATGTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGTGATGTG GTTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATAGTGGTGGGTG ATGTGGTTGGTGGT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(437): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	344	0.0029	444	c.84+ others(459): Show c.84+1392_84+1393insAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
C20orf96_chr20_265863_295750	279002	G G	GGGCGGGA others(437): Show GGGCGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGG GCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGA GGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGG GCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGA GGGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACG GAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGAGGGAGGGA GGGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGG GCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGC GGGAGGGCGGGACGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	410	0.0024	444	c.465 others(459): Show c.465+169_465+170insGTCCCTCCCTCCCTCCCGCCCTCCGTCCCT CCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCC CTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCT CCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCCGCCCTCC GTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCT CCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGT CCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGT CCCGCCCTCCCGCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	410768	G G	GGGGGTCT others(437): Show GGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGTCCA CCGTCACTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGG GCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGG GGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACC GCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC ACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTTGGGGTCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCTCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	444	c.-18 others(455): Show c.-1804_-1803insAAGGATCCGTGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGATCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCC CCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGG TGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCC AGGATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCC AGCAGTGACGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGGGGCGGTG GACAGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1622		chr19	TogoVar
C2CD4C_chr19_400445_414147	410833	A A	ACGGATCC others(437): Show ACGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGAT CTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA19054.hp1 NA19079.hp2 others(1): Show NA18957.hp2 NA19054.hp1 NA19079.hp2 NA19081.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0005 a0001c0001t0005 a0000c0003t0005 a0001c0001t0005	a0000c0003t0005g0043 a0001c0001t0005g0006 a0000c0003t0005g0043 a0001c0001t0005g0006	4	322	0.0124	444	c.-18 others(455): Show c.-1869_-1868insGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGT GCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCC CCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1687		chr19	TogoVar
C2CD4C_chr19_400445_414147	410833	A A	ACGGATCC others(437): Show ACGGATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTTGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCT CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0102 a0001c0001t0039g0102	1	322	0.0031	444	c.-18 others(455): Show c.-1869_-1868insGGCCCAGCAGAGACGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAG ACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGT GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCC CAAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1687		chr19	TogoVar
C2CD4C_chr19_400445_414147	410870	C C	CCGGATCC others(437): Show CCGGATCCTGGGGGTCTGTCCACCGCTCCTGCTGGGCACGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	322	0.0031	444	c.-19 others(455): Show c.-1906_-1905insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGAGCGGTGGACAGACCC CCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1724		chr19	TogoVar
C2CD4C_chr19_400445_414147	411082	C C	CCTGCTGG others(437): Show CCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCTC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGATCTGTCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTG TCCACCACCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATC CTTGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTC CACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	322	0.0031	444	c.-21 others(455): Show c.-2118_-2117insAGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGA CAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACA GATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGAGACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGA GACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCG TTCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1936		chr19	TogoVar
C2CD4C_chr19_400445_414147	411301	G G	GCCCCTGC others(437): Show GCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGC CCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGATCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCCTGGATCCTTGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18990.hp2 NA18948.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	322	0.0062	444	c.-23 others(455): Show c.-2337_-2336insTGGTGGACAGACCCCAAGGATCCAGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGAC CCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGTAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCC CCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGC CCAGCAGGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2155		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(437): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTC CACCGTCTCTGCTGGGCCTGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	444	c.-23 others(455): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATC CGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGA GACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG GGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(437): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	444	c.-22 others(455): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCT GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCT CCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(437): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTC CTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCC TCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	142	0.0070	444	c.244 others(463): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAA GGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG ACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAC GGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAG AGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(437): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18948.hp1 NA18961.hp2 others(1): Show HG02080.hp2 NA18948.hp1 NA18961.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0038 others(1): Show a0001c0001t0002 a0001c0001t0026 a0001c0001t0038 a0001c0001t0045	a0001c0001t0002g0084 a0001c0001t0026g0009 a0001c0001t0038g0025 others(1): Show a0001c0001t0002g0084 a0001c0001t0026g0009 a0001c0001t0038g0025 a0001c0001t0045g0099	4	142	0.0282	444	c.244 others(463): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAA GGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG ACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAC GGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAG AGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209230	T T	TTCCTTCC others(437): Show TTCCTTCCCTCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCC TTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTT CCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTT CCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0024 a0001c0001t0031g0024	1	142	0.0070	444	c.244 others(463): Show c.244+69455_244+69456insAAGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGA AGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAG GAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209230	T T	TTCCTTCC others(437): Show TTCCTTCCCTCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0014 a0001c0001t0025g0014	1	142	0.0070	444	c.244 others(463): Show c.244+69455_244+69456insAAGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGG GAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAG GAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAG GAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(437): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC TCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTC GCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	410	0.0024	444	c.-22 others(461): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(437): Show ATGATGGTGATGATGATGGTGATGGTGATGATGATGGTGATAGTGATGAT GATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGATGG TGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAATGGTGATG GTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGGT GATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGA TGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGATG ATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGGTGATGGT AATGGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGGTAA TGGTGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18981.hp2 HG04184.hp2 NA18981.hp2	a0001 a0003 a0001 a0003	a0001c0073 a0003c0002 a0001c0073 a0003c0002	a0001c0073t0004 a0003c0002t0002 a0001c0073t0004 a0003c0002t0002	a0001c0073t0004g0056 a0003c0002t0002g0048 a0001c0073t0004g0056 a0003c0002t0002g0048	2	196	0.0102	444	c.-5- others(461): Show c.-5-19331_-5-19330insATGGTGATAGTGATGATGATGGTGATAG TGATGATGATGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAATG GTGATGATGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGAT GATGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGATGATGA TGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGATGGTGATG GTGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGATGATGGT GATGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGG TGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTGATGGTG ATGATGATTGTGATGATGATGGTGATGGTGATGGTGATGGTGATGATGAT GGTGATGGTGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(437): Show ATGATGGTGATGATGATGGTGATGGTGATGATGATGGTGATAGTGATGAT GATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGATGG TGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTGATGGTGATG ATGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGATGATGGT GATGGTGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGA TGGTGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATG GTGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGT AATGGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGGTAA TGGTGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0065 a0065	a0065c0026 a0065c0026	a0065c0026t0015 a0065c0026t0015	a0065c0026t0015g0130 a0065c0026t0015g0130	1	196	0.0051	444	c.-5- others(461): Show c.-5-19331_-5-19330insATGGTGATAGTGATGATGATGGTGATAG TGATGATGATGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAATG GTGATGATGATGATGATGATGGTGATGGTGATGGTGATGATGATGATGAT GGTGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGA TGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGATG GTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGAT GATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTAATGGTGATGG TGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTGATGGTG ATGATGATTGTGATGATGATGGTGATGGTGATGGTGATGGTGATGATGAT GGTGATGGTGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH8_chr16_61642250_62041438	61960280	T T	TGCACATA others(437): Show TGCACATACATATATACATATGTGTGTGTGTATACACATACATATATACA TATGTGTGTATACACACATATATACATATGTGTGTATACACATACATATA TACATATGTGTGTGTATACACACATATATACATATGTGTGTGTATACACA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATATG TATGTGCATACACACACACACGTATATATGTATGTGTATACACATACATA TATACATATGTGTGTGTATACACATACATATATACATGTGTGTGTGTGTA TGCACATACACATATACATATATGTGTGTGTATACACATACATATATACA TATGTGTGTATACACACATATATACATATGTGTGTATACACATACATATA TACATATGTGTGTGTATACACACATATATACATATGTGTGTATAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	168	0.0060	444	c.253 others(463): Show c.253-58808_253-58807insGTATACACACATATGTATATATGTGT GTATACACACACATATGTATATATGTATGTGTATACACACATATGTATAT ATGTGTGTATACACACATATGTATATATGTATGTGTATACACACACATAT ATGTATATGTGTATGTGCATACACACACACACATGTATATATGTATGTGT ATACACACACATATGTATATATGTATGTGTATACACATACATATATACGT GTGTGTGTGTATGCACATACATATATACATATATGTGTGTGTATACACAT ACATATATACATATGTGTGTGTGTATACACACACATATGTATATATGTGT GTATACACACACATATGTATATATGTATGTGTATACACACATATGTATAT ATGTGTGTATACACACATATGTATATATGTATGTGTATACACACACACAT ATGTATATATGTATGTGC	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(437): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCC ACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGG AATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00673.hp2 others(43): Show HG00323.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp2 HG02071.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG03239.hp1 HG03688.hp1 HG06807.hp1 NA18939.hp2 NA18944.hp2 NA18950.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA19000.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19077.hp2 NA19081.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0013 a0014	a0001c0001 a0001c0006 a0001c0014 others(5): Show a0001c0001 a0001c0006 a0001c0014 a0002c0002 a0002c0010 a0003c0003 a0013c0016 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0001t0064 a0001c0006t0004 a0001c0014t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0012 a0002c0002t0014 a0002c0010t0041 a0003c0003t0007 a0013c0016t0002 a0014c0021t0050	a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0093 others(43): Show a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0002g0029 a0001c0001t0002g0058 a0001c0001t0002g0178 a0001c0001t0002g0200 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0003g0049 a0001c0001t0004g0105 a0001c0001t0004g0254 a0001c0001t0005g0157 a0001c0001t0005g0222 a0001c0001t0006g0319 a0001c0001t0008g0008 a0001c0001t0011g0085 a0001c0001t0011g0126 a0001c0001t0011g0171 a0001c0001t0015g0180 a0001c0001t0018g0310 a0001c0001t0024g0276 a0001c0001t0064g0097 a0001c0006t0004g0123 a0001c0014t0013g0253 a0002c0002t0001g0078 a0002c0002t0001g0184 a0002c0002t0002g0081 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0110 a0002c0002t0003g0233 a0002c0002t0005g0149 a0002c0002t0006g0302 a0002c0002t0006g0303 a0002c0002t0008g0305 a0002c0002t0012g0153 a0002c0002t0014g0025 a0002c0002t0014g0208 a0002c0010t0041g0269 a0003c0003t0007g0154 a0003c0003t0007g0155 a0013c0016t0002g0228 a0014c0021t0050g0005	46	324	0.1420	444	c.127 others(463): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGT AAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTC TGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATG GATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17432054	A A	ATTTGCCC others(437): Show ATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTT TGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCA CACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCA CTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGA ATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATT TCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0293 a0001c0001t0038g0293	1	324	0.0031	444	c.127 others(463): Show c.127-45405_127-45404insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACA CAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGT AAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTC TGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATG GATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(437): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	440	0.0023	444	c.12 others(455): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTA GATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTA TCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATA TATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203476	T T	TATATACA others(437): Show TATATACACATACACATATATGTGTGTATATGTGTATATACACATACACA TATATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATATG TGTATATACACATACACATATATGTGTGTATATGTGTATATACACATACA CATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATA TGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACATA CACATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGTA TATGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACA TACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGTG TATGTGTATATACACATACACATATATGTGTATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG01109.hp2 HG02055.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0010 a0003c0011t0003g0337 a0003c0011t0003g0010 a0003c0011t0003g0337	2	344	0.0058	444	c.88- others(461): Show c.88-34489_88-34488insTACACATACACATATATGTGTGTATATG TGTATATACACATACACATATATGTGTGTATATGTGTATATACACATACA CATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATA TGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACATA CACATATATGTGTGTATATGTGTATATACACATACACATATATGTGTGTA TATGTGTATATACACATACACATATATGTGTGTATATGTGTATATACACA TACACATATATGTGTGTATATGTGTATATACACATACACATATATGTGTG TATATGTGTATATACACATACACATATATGTGTGTATATGTGTATATACA CATACACATATATGTGTGTATGTGTATATACACATACACATATATGTGTA TATGTATATACACATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134729620	G G	GTGTGTGA others(437): Show GTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGA GCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0166 a0003c0021t0001g0166	1	272	0.0037	444	c.925 others(459): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287216	T T	TACTATGT others(437): Show TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	448	0.0022	444	c.51+ others(459): Show c.51+2145_51+2146insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CTNS_chr17_3631760_3668103	3656347	C C	CCTGCCCT others(437): Show CCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCT CCACCCCTGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGT CCTCACCCTCTGCCCTGTCCCTCCACCCCCGCCAGTCCTCACCCTCTGCC CTGTCCCTCCACCCCCGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCC CTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCTGCCAGT CCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCAC CCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCT CCACCCCTGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGT CCTCACCCTCTGCCCTGTCCCTCCACCCCCGCCAGTCCTCACCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0075 a0002c0008t0075	a0002c0008t0075g0293 a0002c0008t0075g0293	1	372	0.0027	444	c.462 others(457): Show c.462-96_462-95insTCCCTCCACCCCTGCCAGTCCTCACCCTCTGC CCTGTCCCTCCACCCCTGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACC CCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCCGCCAGTCCTCA CCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGC CCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACC CCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAG TCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCCTCACCCTCTGC CCTGTCCCTCCACCCCTGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACC CCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCA CCCTCTGCCCTG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(437): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCACCACTATAACCACCATCATCATCACCAC CACTACCACTACTGTAACCATCACCACCACCACTGCTATAACCACCACCA CCACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCACC ACCACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTGTAACCATCACCACCACCACTATAACCACCATCA TCATCACCACCACTACCACTACTGTAACCATCACCACCACCACTG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0227 a0001c0001t0008g0227	1	230	0.0044	444	c.724 others(463): Show c.724-10675_724-10674insCAGTGGTGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGG TGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTG GTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGGTGAT GGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGG TGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATA GTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGT GGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGG TGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(437): Show CCACCCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCGCACCCCCACCCGCACCGGCACCCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCGCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACACCCACCCCCACCCCCACCCGCACCCGCACCCGCAC CCCCACCCGCACCCGCACCCGCACCCCCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0022 a0022	a0022c0052 a0022c0052	a0022c0052t0001 a0022c0052t0001	a0022c0052t0001g0158 a0022c0052t0001g0158	1	320	0.0031	444	c.39 others(455): Show c.3990_*3991insCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGCGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGTGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGCGGGTGCGGGTGGGGG TGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGG GGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(437): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCA AACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACC CCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCT CACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCT GCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACC ACCCCCTGCAAACCCCCACCCCCCCACACAAACCCCCGCCACCCCCTGCA AACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACC CCCCGCAAACCCCCCGCCACCCCCCACCACCCCTCACCACCCCCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	444	c.172 others(461): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCC CTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCA CCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCA CCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCAC CCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCC TCACCACCCCCTGCAAACCCCCACCCCCCCACACAAACCCCCGCCACCCC CTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCA CCACCCCCCGCAAACCCCCCGCCACCCCCCACCACCCCTCACCACCCCCC GCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554941	G G	GAAAGAAA others(437): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAAGAAAGAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGAAAGAAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAAG AAAGGAAAGAAAGAAAGAAAGAGAGAGGGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	126	0.0079	444	c.199 others(463): Show c.1993-9608_1993-9607insTTCTTTCTTTCTCTCTCCCTCTCTCT TTCTTTCTTTCTTTCCTTTCTTTTCTTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DPEP1_chr16_89608642_89643433	89634780	T T	TCCTTTCC others(437): Show TCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCCTTCCTTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTC CCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCT TCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC CTTTCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	250	0.0040	444	c.105 others(461): Show c.105-1120_105-1119insCTTCCTTCCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCCTTCCTTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTC CTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCCTTTCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DZIP3_chr3_108584722_108699840	108633721	C C	CTCTCTCT others(437): Show CTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGA TCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTAC TTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCT CTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTCTGGA TCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAATAC TTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCT CTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATC TATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTT CTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02809.hp2 others(1): Show HG01891.hp1 HG02109.hp1 HG02809.hp2 HG03486.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0014 a0001c0004 a0006c0014	a0001c0004t0004 a0006c0014t0004 a0001c0004t0004 a0006c0014t0004	a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 others(1): Show a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 a0006c0014t0004g0011	4	318	0.0126	444	c.816 others(459): Show c.816+658_816+659insGGATCTATCAGAGTACTTCTGATAGATCTC TCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCT ATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTC TGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTC TCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCT ATCAGAATACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTC TGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTC TCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTAT CAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTG ATAGATCTCTCTCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108633721	C C	CTCTCTCT others(437): Show CTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGA TCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTAC TTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCT CTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTCTGGA TCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTAC TTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCT CTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATC TATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTT CTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0012 a0001c0004t0004g0012	1	318	0.0031	444	c.816 others(459): Show c.816+658_816+659insGGATCTATCAGAGTACTTCTGATAGATCTC TCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCT ATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTC TGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTC TCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCT ATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTC TGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTC TCTCTGGATCTATCAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTAT CAGAGTACTTCTGATAGATCTCTCTCTCTGGATCTATCAGAGTACTTCTG ATAGATCTCTCTCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)