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
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02559.hp2 HG02630.hp1 others(7): Show HG02132.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG03130.hp1 NA18906.hp2 NA19043.hp2 NA19074.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0007g0062	10	434	0.0230	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03490.hp1 HG03492.hp1 others(19): Show HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03834.hp1 NA18941.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18985.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19010.hp2 NA19077.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0002t0002g0004	22	434	0.0507	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCTTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	434	0.0023	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAAGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCTTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	434	0.0023	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAAGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACTTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	434	0.0046	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGATCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	434	0.0023	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGATCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG03041.hp2 others(2): Show HG02258.hp1 HG02280.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005	5	434	0.0115	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(619): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTAC CCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCC CTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTC CCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0041 a0002c0005t0002g0041	1	114	0.0088	626	c.-25 others(645): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACC CTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCC TCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCC CCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(619): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTGCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTT TCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCC CTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTTCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0123 a0001c0001t0014g0123	1	384	0.0026	626	c.424 others(643): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTGCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCC TCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTTCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(619): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	626	c.28 others(637): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(619): Show TTATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATATAAATTATATATATATTATATATATATATAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATACATAAAAATTATATATATAT TATATATACATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATAATATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	626	c.29 others(637): Show c.2994_*2995insTATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATATAAATTATATATATATTATATATATATATAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATACATAA AAATTATATATATATTATATATACATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATAATATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRPM7_chr15_50552158_50691797	50679477	T T	TATATATA others(619): Show TATATATATATTATATATATGTGTATATATATAATATATATATATATTAT ATATATGTGTATATATATAATATATATATATATTATATATATGTGTATAT ATATAATATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATTATATATATGT GTATATATATAATATATATATATATTATATATATGTGTATATATATAATA TATATATATTATATATATGTGTATATATATAATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TTATATATATGTGTATATATATAATATATATATATTATATATATGTGTAT ATATATAATATATATATATATTATATATATGTGTATATATATAATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0008 a0001c0001t0019g0008	1	352	0.0028	626	c.3+7 others(639): Show c.3+7053_3+7054insTATATATATACACATATATATAATATATATAT ATTATATATATACACATATATATAATATATATATATATTATATATATACA CATATATATAATATATATATATTATATATATACACATATATATAATATAT ATATATTATATATATACACATATATATAATATATATATATTATATATATA CACATATATATAATATATATATATTATATATATACACATATATATAATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATATTATATATATACACATATATA TAATATATATATATTATATATATACACATATATATAATATATATATATTA TATATATACACATATATATAATATATATATATATTATATATATACACATA TATATAATATATATATATTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TRPM7_chr15_50552158_50691797	50679477	T T	TATATATA others(619): Show TATATATATATTATATATATGTGTATATATATAATATATATATATATTAT ATATATGTGTATATATATAATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATATTATATATATGTGT ATATATATAATATATATATATATTATATATATGTGTATATATATAATATA TATATATATTATATATATGTGTATATATATAATATATATATATATTATAT ATATGTGTATATATATAATATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATATTATATATATGTGT ATATATATAATATATATATATTATATATATGTGTATATATATAATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0006 a0001c0001t0019g0006	1	352	0.0028	626	c.3+7 others(639): Show c.3+7053_3+7054ins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	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(619): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATTATATCATCATATGATGATATGATACTATTATATCAT CATATGATGATATGATACTATTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0088 a0002c0003t0088	a0002c0003t0088g0066 a0002c0003t0088g0066	1	174	0.0058	626	c.41- others(643): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870360	C C	CACCACAC others(619): Show CACCACACAAACCACACACCCTACACACCCCACACACACCACACACCACA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACA CACACCCCACACACACCACACACCCCACACACACCACACACCCCATACAC ACCACACCCCACACACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACACACCACACACCCC ACACACCCCACACACACCACACACCCTACACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACACACCACACACACCACACA CCCTACACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACACACCACACACCCCACACACACCACACCCCACACACACCC CACACACCACACACACACCACACACCCCACACACACCACACAAACCACAC ACCCTACACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	338	0.0030	626	c.35 others(645): Show c.35+21629_*35+21630insCACACAAACCACACACCCTACACACC CCACACACACCACACACCACACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCCCACACACACCACACACCCCACA CACACCACACACCCCATACACACCACACCCCACACACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACACACCACACACCCCACACACCCCACACACACCACACACCCTAC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACACACCACACACACCACACACCCTACACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACACACCACACACCCCACACA CACCACACCCCACACACACCCCACACACCACACACACACCACACACCCCA CACACACCACACAAACCACACACCCTACACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCCCACACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(619): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTT CCCTTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCC CTTTCCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	246	0.0041	626	c.-10 others(643): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(620): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAG GAAAGGAGGGATGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGG AGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGG GATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAA GGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01358.hp2 HG00140.hp1 HG00642.hp1 HG01358.hp2	a0003 a0006 a0003 a0006	a0003c0006 a0003c0042 a0006c0016 a0003c0006 a0003c0042 a0006c0016	a0003c0006t0045 a0003c0042t0001 a0006c0016t0002 a0003c0006t0045 a0003c0042t0001 a0006c0016t0002	a0003c0006t0045g0115 a0003c0042t0001g0102 a0006c0016t0002g0082 a0003c0006t0045g0115 a0003c0042t0001g0102 a0006c0016t0002g0082	3	228	0.0132	627	c.259 others(648): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCTCCTTTCCTTCCCT CCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCATCCCTCC TTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCATC CCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCC TCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCC TTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCAT CCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC ATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCT CCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(620): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	298	0.0034	627	c.955 others(644): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(620): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATG GTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGG TGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGGTGATGGTG ATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	292	0.0034	627	c.21 others(642): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCACCATCACCACCATCACCACCATCATCACCACCACCACCACC ATCACCACCATCATCACCATCACCACCACCACCACCACCACCATCACCAT CACCACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCA TCACCACCATCATCACCATCACCACCACCATCACCACCATCATCACTATC ACCACCATCACCACCATCATCACCACCACCACCACCACCATCACCACCAC CATCACCACCATCACCATCACCACCATCATCACCACCACCGTCACCCCCA TCATTACCATCACCACCACCACCACCACCACCATGACCACCACCACCACC ACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCACCACCAT CACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTACCACCC CCACCACCACTCTCACCACCATCACCATCACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2CD4C_chr19_400445_414147	404412	T T	TGGGGGGG others(620): Show TGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCT GTCCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGA GGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTG CCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTCTGAGG GGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGACGGGGCCCTGT CCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGG GGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCC CCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGG GGGGACGGGGCCCTGTCCCGAGGGGTCTGAGGGGGGGACGGGTCCTGCCC CGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACGGGGTCCTGCC CTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGGGGGG GGACGGGGTCCTGTCCCGAGGGGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0094 a0001c0001t0115g0094	1	322	0.0031	627	c.26 others(638): Show c.2683_*2684insCCACACCCCTCGGGACAGGACCCCGTCCCCCCCC CACACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGGCAGG ACCCCGTCCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCT CACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAG GACCCGTCCCCCCCTCAGACCCCTCGGGACAGGGCCCCGTCCCCCCCCTC ACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGG ACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAG ACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGACAGGG CCCCGTCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCAG ACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGAC CCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAGAC CCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGACAGGGCC CCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1032		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185709	T T	TGCATAGG others(620): Show TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0016 a0016	a0016c0134 a0016c0134	a0016c0134t0003 a0016c0134t0003	a0016c0134t0003g0308 a0016c0134t0003g0308	1	338	0.0030	627	c.300 others(644): Show c.300-9261_300-9260insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGGCCG GGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGG CCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATA GGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATG CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(620): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATATAATTATATATATTTATAT ATATATAATTATATATATATATAAAATTATATATATAATTATATATATTA TATATAATTATATATATAATTTTATATATATAATTATATATATTTATATA TATATATATAATTATATATATATATAAAATTATATATATAATTATATATA TATTATATATAATTATATATATATATTATATATAATTTTATATATATAAT TATATATATAATTTTATATATATAATTTTATATATATAATTTTATATATA TAATTTTATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTTTATATATATATAATTATATATATAATTTTATATA TATATAATTATATATATAATTATATATATAATTTTATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATAAT TATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	330	0.0030	627	c.907 others(642): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATATAAAATTATATATATAATTATAT ATATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(620): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTATATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATAATTATATATATTATATAATT ATATATATAATTTTATATATATATAATTATATATACAATTTTATAATATA TATAATTATATATACAATTATATATATATATAATTATATATATATAATTG TATATATAATTTTATATATATAATTATATATAATTTTATATATATATAAT TATATATATAATTATATATATATAATTATATATATTTATATATATATATA ATTATATATATAATTTTATATATATAATTTTATATAATTTTATATATAAT TATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0249 a0003c0003t0001g0249	1	330	0.0030	627	c.907 others(642): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAT AAAATTATATATATAATTATATATATATATAATTATATATATAATTATAT ATATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(620): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATAATTATATATATTATATAATT ATATATATAATTTTATATATATATAATTATATATACAATTTTATAATATA TATAATTATATATACAATTATATATATATATAATTATATATATATAATTG TATATATAATTTTATATATATAATTATATATAATTTTATATATATATAAT TATATATATAATTATATATATATAATTATATATATTTATATATATATATA ATTATATATATAATTTTATATATATAATTTTATATAATTTTATATATAAT TATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp1 HG02602.hp1 others(10): Show HG00438.hp1 HG02080.hp1 HG02602.hp1 HG02683.hp1 HG03017.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp2 NA18980.hp2 NA18982.hp1 NA18992.hp2 NA19009.hp1 NA19060.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0010 a0004c0025 a0003c0003 a0004c0010 a0004c0025	a0003c0003t0001 a0004c0010t0001 a0004c0025t0001 a0003c0003t0001 a0004c0010t0001 a0004c0025t0001	a0003c0003t0001g0074 a0003c0003t0001g0089 a0003c0003t0001g0157 others(10): Show a0003c0003t0001g0074 a0003c0003t0001g0089 a0003c0003t0001g0157 a0003c0003t0001g0161 a0003c0003t0001g0164 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0198 a0003c0003t0001g0242 a0004c0010t0001g0245 a0004c0010t0001g0288 a0004c0025t0001g0240	13	330	0.0394	627	c.907 others(642): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAT AAAATTATATATATAATTATATATATATAAAATTATATATATAATTATAT ATATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181959	A A	ACACATAC others(620): Show ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACACACTCACATACAG ACACAACCACACCACACACACACACACATACAGACACAACCACACCACAC ACACACATACACACTCACATACAGACACAACCACACCACACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACATACAGACACA ACCACACCACACACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0323 a0003c0003t0003g0323	1	460	0.0022	627	c.193 others(644): Show c.1938+643_1938+644insTACACACTCACATACAGACACAACCACA CCACACTCACACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACACACACACACACATACAG ACACAACCACACCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACTCACATACAGACACAACCACACCACACACAC ACACACATACAGACACAACCACACCACACACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC16_chr13_114229897_114277723	114231068	C C	CTGCTGCT others(620): Show CTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGA GTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGC GGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGG ATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGG TGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGG TGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTG GGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCT GGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCAT TGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAG TGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCG GGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGA TCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGT GGTTGGATCGTGGGGGTGGAGTGCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	627	c.-40 others(638): Show c.-4017_-4016insTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGC TGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCA TTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGA GTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG GGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGG ATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGG TGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGG TGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTG GGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCAT	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3828		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231256	G G	GCTGGTGG others(620): Show GCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGG CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGG GAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGG CTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGC GGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTACCCATTGC TGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGC CCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGT GGAGTGCCCATTGCTGCTGGAGGTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	380	0.0026	627	c.-38 others(638): Show c.-3829_-3828insCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGT GCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGG GTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGG CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGG TGGAGTACCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGA	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3640		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231420	C C	CGGTGGGG others(620): Show CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCAGTGGGGCTGGTGG GAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGG CTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGC GGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGC TGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGC CCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGT GGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCG TGGGGGTGGAGTGCCCATTGCTGCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	380	0.0026	627	c.-36 others(638): Show c.-3665_-3664insGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGG GTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGG CAGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGG GAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGA	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3476		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231509	C C	CGGGTGGA others(620): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGTGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCA TTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGA GTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG GGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGG ATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGG TGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGG TGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTG GGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0178 a0001c0009t0001g0178	1	380	0.0026	627	c.-35 others(638): Show c.-3576_-3575insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCCATTGCTGCTGGAGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGG AGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG CGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCA TTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3387		chr13	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(620): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	256	0.0039	627	c.-45 others(648): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTC CCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCCGAGG others(620): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0028 a0028	a0028c0027 a0028c0027	a0028c0027t0002 a0028c0027t0002	a0028c0027t0002g0028 a0028c0027t0002g0028	1	246	0.0041	627	c.212 others(644): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(620): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	223	0.0045	627	c.-42 others(638): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098010	T T	TATAAATA others(620): Show TATAAATATATATAAATATATAAATATATATAAATATAAATATATATAAA TATATAAATATATAAATATATATAAATATATAAATATATATAAATATATA TAAATATAAAAATATATATAAATATATAAATATATATAAATATATATGTA AATATATAAATATATATAAATATATATGTAAATATATAAATATATATAAA TAAATATATATAAATATATATAAATATAAATATATATATAAATATGTAAT TCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATAAATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATATAAATATATATAAATATATAACTATATAAAT AAATATATATAAATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	264	0.0038	627	c.181 others(646): Show c.1812+3461_1812+3462insTTATATATTTATATATTTATATATAT TTATTTATATAGTTATATATTTATATATATTTATATATATATATTTATAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATTTACATATATTTATATATTTATATATATTTATATTTTTTATATATTTA TATATATTTTTATATATATTTATATATTTATAAATATATATATATTTATA TATTTATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATTTATAAATATATATATATTTATATATATATAAATATATATATATT TATATATTTATAAATATATTTATATTTATATATATTTACATATATATTTA GAATTACATATTTATATATATATTTATATTTATATATATTTATATATATT TATTTATATATATTTATATATTTACATATATATTTATATATATTTATATA TTTACATATATATTTATATATATTTATATATTTATATATATTTTTATATT TATATATATTTATATATATTTATATATTTATATATATTTATATATTTATA TATTTATATATATTTATATTTATATATATTTATATATTTATATATATTTA T	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSF2RA_chrX_1263814_1314935	1297579	G G	GTCCCCTA others(620): Show GTCCCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGTGGAACC CTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGG CAGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACTCATGA CCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTA CCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAG TCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTC CCCTACTCACAACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCC TACAGTCCCCTACTCACAACCCCTACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG00140.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0148 a0001c0001t0003g0133 a0001c0001t0003g0148	2	159	0.0126	627	c.810 others(644): Show c.810+2125_810+2126insCCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCG GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACC CCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACC CATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTC TCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCC TACAGTCCCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCA CGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCC CTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGT AACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCC CTGGTGGAACCCTACAGTCCCCTACTCACAACCCCTACACTCTCCTACCC ATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACAACCCCTACACTC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(620): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGGGCCCAGCCAGGGCCCAGC CAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0118 a0001c0005t0005g0118	1	358	0.0028	627	c.236 others(646): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CGAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAG A	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DOCK8_chr9_209865_470255	400013	T T	TCACCACC others(620): Show TCACCACCTCCTTCACCATCACCAGCACCTCCACCATCACCATCACCACC TCCACCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCACCACCACCGCCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCAT CACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACCACCTCCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC TCCACCACCACCATCACCACCTCCTTCACCATCACCACCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCACCACCGCCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTT CTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCA CCACCTCCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0057 a0057	a0057c0130 a0057c0130	a0057c0130t0001 a0057c0130t0001	a0057c0130t0001g0169 a0057c0130t0001g0169	1	256	0.0039	627	c.323 others(644): Show c.3234+761_3234+762insTCCTTCACCATCACCAGCACCTCCACCA TCACCATCACCACCTCCACCACCATCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCACCAC CGCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCAT CACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCTCCACCACCACCATCACCACCTCCTTCACCATCACC ACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCAC CACCACCGCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCC ACCACCACCACCTTCTCCACCATCACCACCTCCTCCATCACCACCACCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619312	C C	CGCTCCCC others(620): Show CGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCC CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTC CCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCC ATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	250	0.0040	627	c.-10 others(646): Show c.-107+5613_-107+5614insATGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTC C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM153A_chr5_177718364_177787899	177782643	T T	TATCCAAC others(620): Show TATCCAACCCCCAATCCGCGATCCAACCTCCAATCCGCGATCCAAACCCC AATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGATCC AACTCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCC ATGATCCAACTCAACATCCGCTATCCAACCCCCAATCCGCGATCCAAACC CCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGAT CCAAACCCCAATCCGCGATCCAAACCCCAATCCGCGATCCAACCCCCAAT CCGCGATCCAACCCCCAATCCGCGATCCAACTCCCAATCCGCGATCCAAC CCCCAATCCGCGATCCAACCCCCAATCCGTGATCCAACTCAACATCCGCG ATCCAACCCCCAATCCGCGATCCAAACCCCAATCCGCGATCCAACCCCCA ATCCGTGATCCAAATCCCAATCCGTGATCCAACCCCCAATCCGTGATCCA AACCCCAATCCGTGATCCAAACCCCAATCCGCGATCCAACCCCCAATCCG TGATCCAACTCAAAATCCCCGATCCAAATCCCAATCCGTGATCCAACCCC CAATCCGCGATCCAACCCCCAATCCGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0035 a0003c0005t0001g0035	1	36	0.0278	627	c.-33 others(643): Show c.-338+99_-338+100insCACGGATTGGGGGTTGGATCGCGGATTGG GGGTTGGATCACGGATTGGGATTTGGATCGGGGATTTTGAGTTGGATCAC GGATTGGGGGTTGGATCGCGGATTGGGGTTTGGATCACGGATTGGGGTTT GGATCACGGATTGGGGGTTGGATCACGGATTGGGATTTGGATCACGGATT GGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGGTTGGATC GCGGATGTTGAGTTGGATCACGGATTGGGGGTTGGATCGCGGATTGGGGG TTGGATCGCGGATTGGGAGTTGGATCGCGGATTGGGGGTTGGATCGCGGA TTGGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGTTTGGA TCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGG GTTTGGATCGCGGATTGGGGGTTGGATAGCGGATGTTGAGTTGGATCATG GATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGGAGTTG GATCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTG GGGTTTGGATCGCGGATTGGAGGTTGGATCGCGGATTGGGGGTTGGAT	FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	1/22			chr5	TogoVar
FAM153A_chr5_177718364_177787899	177782643	T T	TATCCAAC others(620): Show TATCCAACCCCCAATCCGCGATCCAACCTCCAATCCGCGATCCAAACCCC AATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGATCC AACTCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCC GTGATCCAACTCAACATCCGCTATCCAACCCCCAATCCGCGATCCAAACC CCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGAT CCAAACCCCAATCCGCGATCCAAACCCCAATCCGCGATCCAACCCCCAAT CCGCGATCCAACCCCCAATCCGCGATCCAACTCCCAATCCGCGATCCAAC CCCCAATCCGCGATCCAACCCCCAATCCGTGATCCAACTCAACATCCGCG ATCCAACCCCCAATCCGCGATCCAAACCCCAATCCGCGATCCAACCCCCA ATCCGTGATCCAAATCCCAATCCGTGATCCAACCCCCAATCCGTGATCCA AACCCCAATCCGTGATCCAAACCCCAATCCGCGATCCAACCCCCAATCCG TGATCCAACTCAAAATCCCCGATCCAAATCCCAATCCGTGATCCAACCCC CAATCCGCGATCCAACCCCCAATCCGTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02258.hp2 HG03130.hp1 others(2): Show HG01952.hp2 HG02258.hp2 HG03130.hp1 HG03453.hp2 HG06807.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0005c0006t0001g0032	5	36	0.1389	627	c.-33 others(643): Show c.-338+99_-338+100insCACGGATTGGGGGTTGGATCGCGGATTGG GGGTTGGATCACGGATTGGGATTTGGATCGGGGATTTTGAGTTGGATCAC GGATTGGGGGTTGGATCGCGGATTGGGGTTTGGATCACGGATTGGGGTTT GGATCACGGATTGGGGGTTGGATCACGGATTGGGATTTGGATCACGGATT GGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGGTTGGATC GCGGATGTTGAGTTGGATCACGGATTGGGGGTTGGATCGCGGATTGGGGG TTGGATCGCGGATTGGGAGTTGGATCGCGGATTGGGGGTTGGATCGCGGA TTGGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGTTTGGA TCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGG GTTTGGATCGCGGATTGGGGGTTGGATAGCGGATGTTGAGTTGGATCACG GATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTGGGAGTTG GATCGCGGATTGGGGGTTGGATCGCGGATTGGGGGTTGGATCGCGGATTG GGGTTTGGATCGCGGATTGGAGGTTGGATCGCGGATTGGGGGTTGGAT	FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	1/22			chr5	TogoVar
FBN2_chr5_128252909_128543245	128539822	T T	TCATATAT others(620): Show TCATATATCATATATATGATATATATGATAGATCATATATTATATCATAT ATATCATATATATGAGATCATATATGATCTATCATATATATCATATCATA TATATCATATCATTATCATATATCACATATATCATATATCACATATATCA CATATATCATATATCACATATATCACATATATCATATATCACATATATCA CATATATCATATATATCATATATCACATATATCATATATATCATATATTA TATATATCATATATCATATATATCATATATATCATATATATCATATATAT CATATATATCATATATATCATATATATCATATATCATATATATCATATAT ATCATATATCATATATATCATATATATCATATATCATATATATCATATAT ATCATATATCATATATATCATATATATCATATATATTATATATTATATAT CATATATATCATATATATTATATATTATATATCATATATATCATATATAT TATATATCATATATCATATATATCATATATATTATATATCATATATCATA TATATCATATATATTATATATCATATATCATATATCATATATATCATATA TATCATATATCATATATCATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0042 a0003c0006t0004g0042	1	236	0.0042	627	c.-22 others(638): Show c.-2220_-2219insTGATATATATGATATATGATATATGATATATATG ATATATATGATATATGATATATGATATATAATATATATGATATATATGAT ATATGATATATAATATATATGATATATATGATATATGATATATAATATAT ATGATATATATGATATATAATATATAATATATATGATATATATGATATAT AATATATAATATATATGATATATATGATATATATGATATATGATATATAT GATATATATGATATATGATATATATGATATATATGATATATGATATATAT GATATATATGATATATGATATATATGATATATATGATATATATGATATAT ATGATATATATGATATATATGATATATATGATATATGATATATATAATAT ATGATATATATGATATATGTGATATATGATATATATGATATATGTGATAT ATGTGATATATGATATATGTGATATATGTGATATATGATATATGTGATAT ATGTGATATATGATATATGTGATATATGATAATGATATGATATATATGAT ATGATATATATGATAGATCATATATGATCTCATATATATGATATATATGA TATAATATATGATCTATCATATATATCATATATATGATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1578		chr5	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(620): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TACATTTATATACATATAAATATATACATATATACATATAAATATATATT TATATACATATAAATATATATATTTATATATATTTATATATATATAAATA TATATATATTTGTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATATACATATAAATATATATTTATATACA TATAAATATATAATTATATACATATAAATATATAATTATATACATATAAA TATATATAATTATATACATATAAATATATATTTATATACATATAAATTTA TATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	292	0.0034	627	c.49 others(638): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAATATACATACATATATATTTATATGTATATAC ATATATATTTATATGTATATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71435727	C C	CGGAGGGA others(620): Show CGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAAAAAGGAGGGAGGG AGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGG ACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAGGGAGGAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0084 a0001c0001t0052g0084	1	96	0.0104	627	c.-16 others(648): Show c.-168+57698_-168+57699insTTTTTTCCTCCCTCCCTCCCTCCG TCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTC CCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTC TTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGT CCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCC TCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCCTTTG others(620): Show CTCCTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTAAAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAATAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG01884.hp2 others(12): Show HG00738.hp1 HG01496.hp2 HG01884.hp2 HG02145.hp1 HG02258.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0018	a0001c0001t0001 a0001c0001t0021 a0001c0001t0034 others(11): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0034 a0001c0002t0001 a0001c0002t0006 a0001c0002t0016 a0001c0002t0027 a0001c0003t0019 a0001c0004t0011 a0001c0005t0002 a0001c0006t0003 a0001c0007t0036 a0001c0013t0023 a0001c0018t0004	a0001c0001t0001g0044 a0001c0001t0021g0072 a0001c0001t0034g0088 others(12): Show a0001c0001t0001g0044 a0001c0001t0021g0072 a0001c0001t0034g0088 a0001c0002t0001g0041 a0001c0002t0006g0052 a0001c0002t0016g0012 a0001c0002t0027g0080 a0001c0003t0019g0064 a0001c0004t0011g0078 a0001c0005t0002g0055 a0001c0006t0003g0020 a0001c0006t0003g0069 a0001c0007t0036g0016 a0001c0013t0023g0006 a0001c0018t0004g0053	15	92	0.1630	627	c.574 others(646): Show c.574+56339_574+56340insCCTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTAAAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAATAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCCTTTG others(620): Show CTCCTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTATAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAATAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 HG04115.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0015g0013 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0015g0013	3	92	0.0326	627	c.574 others(646): Show c.574+56339_574+56340insCCTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTATAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAATAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCGTTTG others(620): Show CTCGTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTAAAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAACAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	92	0.0109	627	c.574 others(646): Show c.574+56339_574+56340insCGTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTAAAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAACAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCGTTTG others(620): Show CTCGTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTAAAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAATAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00738.hp2 others(31): Show HG00323.hp1 HG00408.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0002t0001 a0001c0002t0006 a0001c0002t0026 a0001c0002t0029 a0001c0003t0006 a0001c0003t0012 a0001c0003t0022 a0001c0003t0032 a0001c0003t0037 a0001c0006t0003 a0001c0007t0001 a0001c0009t0002 a0001c0009t0010 a0001c0011t0018 a0001c0017t0001	a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0073 others(31): Show a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0004g0007 a0001c0001t0007g0014 a0001c0001t0025g0092 a0001c0001t0028g0054 a0001c0001t0031g0028 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0006g0062 a0001c0002t0026g0070 a0001c0002t0029g0032 a0001c0003t0006g0034 a0001c0003t0012g0023 a0001c0003t0022g0058 a0001c0003t0032g0040 a0001c0003t0037g0018 a0001c0006t0003g0008 a0001c0007t0001g0048 a0001c0009t0002g0089 a0001c0009t0010g0051 a0001c0011t0018g0004 a0001c0017t0001g0039	34	92	0.3696	627	c.574 others(646): Show c.574+56339_574+56340insCGTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTAAAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAATAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27385226	C C	CTCGTTTG others(620): Show CTCGTTTGTAGAGCTATCACAGGGTTCTCACACTCGGGTCATTATTCAGT ACTAATCACCCCAGGGAAACTGGGGACAACCCTGTCCCAGAGCCCAGTGA AATTATTAAAACTGGGAATTATAAACTGTTTATTCTTCTTTGCCTGTTCT TTCCCATGGAAACCACAGTAAAGGGCCTTACCCACATTTTCCTCCTTTCC TCTGACCGCCCAGTGTCATGGTGTGCCCTATTCTCTTAAAAACCATGAGT AGCAGTCTTTTCAGTGACAATCACATCTTGATTTATTGGTCTCGTCATAC CTGAATAATAGTAAAACTTGCATTTTTAAACACTTTTGTTTTAGAGACAG TGTCTCGCTCTGTTGCCCAGGCTGGAGTACAGTGGTTTGATCTTGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTGCAGGTATGCACCACCATGCCTGACTAGTTTTTGCA TTTTTAGTAGAGATGGAGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACT CCTGGCCTCAGGTGATCCACCGGCCTCAGCCTCCCAGAGTGCTGGGATTA CAGGCATGAGCCACTGTGACCGGCCACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0005 a0001c0003t0001 a0001c0005t0005	a0001c0003t0001g0066 a0001c0005t0005g0037 a0001c0003t0001g0066 a0001c0005t0005g0037	2	92	0.0217	627	c.574 others(646): Show c.574+56339_574+56340insCGTTTGTAGAGCTATCACAGGGTTCT CACACTCGGGTCATTATTCAGTACTAATCACCCCAGGGAAACTGGGGACA ACCCTGTCCCAGAGCCCAGTGAAATTATTAAAACTGGGAATTATAAACTG TTTATTCTTCTTTGCCTGTTCTTTCCCATGGAAACCACAGTAAAGGGCCT TACCCACATTTTCCTCCTTTCCTCTGACCGCCCAGTGTCATGGTGTGCCC TATTCTCTTAAAAACCATGAGTAGCAGTCTTTTCAGTGACAATCACATCT TGATTTATTGGTCTCGTCATACCTGAATAATAGTAAAACTTGCATTTTTA AACACTTTTGTTTTAGAGACAGTGTCTCGCTCTGTTGCCCAGGCTGGAGT ACAGTGGTTTGATCTTGGCTCACTGCAACCTCCACCCCCTGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGTATGCACCA CCATGCCTGACTAGTTTTTGCATTTTTAGTAGAGATGGAGTTTTGCTATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCACCGGCCTCA GCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGACCGGCCACA T	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT9_chr12_132191372_132334589	132242114	C C	CCCATTCC others(620): Show CCCATTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACACCCT TCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCA GGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCC ATCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCGTCCC TATACCCATTACAAACACAACACACACCCTTCCAGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCGTCCCTATCCCCATT ACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCGATTTACAC ACACCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACC ACACCCCCTTCCCGGGGCCCTCCCTATACCTATTGCACACACAACACACA CTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCC AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCTGGG CCGTCCCTATACCCATTACACACACAACACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACGCCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp1 others(5): Show HG00408.hp1 HG00408.hp2 HG02027.hp1 HG02683.hp1 HG02698.hp1 NA18964.hp2 NA18999.hp2 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0011 a0001c0013 a0001c0020 others(2): Show a0001c0011 a0001c0013 a0001c0020 a0001c0039 a0003c0033	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(2): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0001c0039t0006 a0003c0033t0001	a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 others(5): Show a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0011t0001g0129 a0001c0013t0004g0095 a0001c0020t0001g0115 a0001c0039t0006g0001 a0003c0033t0001g0114	8	183	0.0437	627	c.107 others(646): Show c.1077+5795_1077+5796insTGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAC GGCCCAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGTGTGTGTTGTGTGTGCAATAGGTATAGGGAGGGCCCCGGGAAGGGGGT GTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGT GTGTGTAAATCGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGT GTAATGGGGATAGGGACGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAAT GGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTTTGTAATGGGTA TAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGG ATGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGC CCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTG GAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAATG G	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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Search Results (Total: 10000 hits)