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
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19082.hp1 NA19079.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0049 a0001c0001t0001g0071	2	362	0.0055	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0166 a0001c0001t0022g0166	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0090 a0011c0011t0001g0090	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03927.hp1 HG03927.hp2 HG00558.hp2 HG03927.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0127 a0001c0001t0001g0164 a0001c0001t0001g0069 a0001c0001t0001g0127 a0001c0001t0001g0164	3	362	0.0083	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02129.hp2 HG03834.hp2 HG02027.hp1 HG02129.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0035g0135 a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0035g0135	3	362	0.0083	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0087 a0001c0001t0017g0087	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19010.hp2 NA18964.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0091 a0001c0001t0018g0300 a0001c0001t0001g0091 a0001c0001t0018g0300	2	362	0.0055	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCGCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0106 a0001c0001t0046g0106	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGCGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(528): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCTGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	362	0.0028	535	c.-27 others(552): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(528): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTAATACATATATAATATGTATTACATATATGTAATACATAT ATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	400	0.0025	535	c.70 others(546): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTAATACATATATAATATGTATTACAT ATATGTAATACATATATAACATGTATTACATATATGTAATACATATATAA C	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(528): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATTACATATATGTATTACATATA TGTATTACATATATTACATATATGTAATACATATATAACATATATGTATT ACATATATGTAATACATATATAACATGTATTACATATATGTAATACATAT ATAACATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	535	c.70 others(546): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATTACATA TATGTATTACATATATGTATTACATATATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAACATGTATTACATATATGTAATACACATATAA C	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(528): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCG GATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCA GAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCT ATTCGGATCTGTTCAGAATAGATCTATTCGGATCTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0203 a0001c0006t0003g0203	1	262	0.0038	535	c.129 others(552): Show c.129-5992_129-5991insCAGATCCGAATAGATCTATTCTGAACAG ATCCGAATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAACAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAACAGATCCGAATAG ATCTATTCTGAATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTG AACAGATCCGAATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTG AACAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AAAAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AAAAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(528): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCT GAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	262	0.0038	535	c.129 others(552): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(528): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCTGAATAGATCTATTCGGATCTATTCT GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0244 a0001c0005t0002g0244	1	262	0.0038	535	c.129 others(552): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCAGAATAGATCCGAATAGATCTATTCAGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PHKA1_chrX_72573814_72719306	72681480	A A	ATCTGGGA others(528): Show ATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCTGTCCGGGAGGGAGGTTGAGGGGGGGGTCAGCCCCCCCGCCCAGCCA GCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0106 a0001c0001t0008g0106	1	237	0.0042	535	c.537 others(552): Show c.537+3017_537+3018insCGGGGCGGCTGGCCGGGCAGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC AGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCTCAACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCAGA	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PITPNM1_chr11_67486768_67510363	67499556	T T	TCACCCAT others(528): Show TCACCCATCCATCCATCCATCCATCCATCCACCTACCCACCCGCCCACCC ATCCATCCATCCACCCATTCATCCATCTACCCACCCACCCACCCACCCAC CCATCCATCCACCCACCCAACCATTCATCCATCCATCCATCTACCCACCC ACCCAACCATCCATCCATCCATCCATCCACCTACCCACCCACCCACCCAT CCATCCATCCATCCAACCATTCATCCATCCATCCATCTAGCCACCCAACC ACCCAACCATCAACCCACCCACCCACCCACCCATCCATCCGCCCACCCAC CCAACCATTCATCCATCCATCCATCCATCTACCCACCCACCCACCCACCC ATCCACCCACCCATCCAACCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCTACCCACCCACCCACCCACCCATCTATCCATCC AACCATCCATCCATCCATCCATCTAGCCACCCATCCATCTACCCACCCAC CCACCCATCTACCCACCCACCCACCCACCTACCCAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	300	0.0033	535	c.117 others(552): Show c.1171+166_1171+167insGTGGGTAGGTGGGTGGGTGGGTGGGTAG ATGGGTGGGTGGGTGGGTAGATGGATGGGTGGCTAGATGGATGGATGGAT GGATGGTTGGATGGATAGATGGGTGGGTGGGTGGGTGGGTAGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGTTGGATGGGT GGGTGGATGGGTGGGTGGGTGGGTGGGTAGATGGATGGATGGATGGATGA ATGGTTGGGTGGGTGGGCGGATGGATGGGTGGGTGGGTGGGTGGGTTGAT GGTTGGGTGGTTGGGTGGCTAGATGGATGGATGGATGAATGGTTGGATGG ATGGATGGATGGGTGGGTGGGTGGGTAGGTGGATGGATGGATGGATGGAT GGTTGGGTGGGTGGGTAGATGGATGGATGGATGAATGGTTGGGTGGGTGG ATGGATGGGTGGGTGGGTGGGTGGGTGGGTAGATGGATGAATGGGTGGAT GGATGGATGGGTGGGCGGGTGGGTAGGTGGATGGATGGATGGATGGATGG ATGGGTG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23			chr11	TogoVar
PLCXD1_chrX_276381_308356	297372	C C	CCACATGG others(528): Show CCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCC CACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCC ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCA CATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCAC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATCCTGTCTATCACA TGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACAT GGGGATCAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATG GGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTATCACATGGGGAT TAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATT AGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATCA GGACGTGGACATCTTTGGGGACATTATCCTGTCTAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0091	a0001c0002t0091g0155 a0001c0002t0091g0155	1	176	0.0057	535	c.734 others(552): Show c.734-1692_734-1691insACATTATTCTGTCTCCCACATGGGGATT AGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCCACATGGGGATTA GGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAG GACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGG ACGTGGACATCTTTGGGGACATTATCCTGTCTATCACATGGGGATTAGGA CGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGATCAGGAC GTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACG TGGACATCTTTGGGGCCATTATTCTATCACATGGGGATTAGGACGTGGAC ATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACA TCTTTGGGGACATTATTCTGTCTATCACATGGGGATCAGGACGTGGACAT CTTTGGGGACATTATCCTGTCTATCACATGGGGATTAGGACGTGGACATC TTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(528): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGC GGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGG GTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAG TAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGGTAGGGATGGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0038 a0038	a0038c0080 a0038c0080	a0038c0080t0043 a0038c0080t0043	a0038c0080t0043g0177 a0038c0080t0043g0177	1	210	0.0048	535	c.45+ others(546): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGAC GCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC CGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG AGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGGTAGGGATGGGGT GGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGT G	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(528): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGAT GGTGATGGTAGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGT AATGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTGA TGGTGATGGTGATGATGGTGACGGTGGTGACAATGGTGATGGTGATGGTG GTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA ATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGAT GGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	374	0.0027	535	c.-46 others(546): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGTGGTGGTGGTGATGA TGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGT GATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGATGG TGGTGATGATGGTGATGGTGATGGTGATGATGGTGACGGTGGTGACAATG GTGATGGTGATGGTGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTG ATGGGGGTGGTGGTAATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGT GGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA A	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(528): Show CTCCCCTCCCCTTCCTTCCTCTCCCCTCCCCTTCCCTCCCTTTCCCTCCC CTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCC TCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCT CCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTC CCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTC CCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTC CCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTC CCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCC CGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTC TTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCC CTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG02809.hp1 others(8): Show HG02280.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG03098.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0001c0009 a0001c0013 a0002c0012	a0001c0001t0003 a0001c0001t0029 a0001c0004t0015 others(8): Show a0001c0001t0003 a0001c0001t0029 a0001c0004t0015 a0001c0004t0016 a0001c0004t0042 a0001c0007t0026 a0001c0009t0078 a0001c0009t0101 a0001c0009t0111 a0001c0013t0103 a0002c0012t0003	a0001c0001t0003g0159 a0001c0001t0029g0082 a0001c0004t0015g0162 others(8): Show a0001c0001t0003g0159 a0001c0001t0029g0082 a0001c0004t0015g0162 a0001c0004t0016g0011 a0001c0004t0042g0084 a0001c0007t0026g0161 a0001c0009t0078g0085 a0001c0009t0101g0014 a0001c0009t0111g0076 a0001c0013t0103g0071 a0002c0012t0003g0078	11	218	0.0505	535	c.80+ others(552): Show c.80+30515_80+30516insCCCCTTCCTTCCTCTCCCCTCCCCTTCC CTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCC TCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCT CCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTT CCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCC CATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCC CCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTC CCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTC CCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCC CTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCC ATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(528): Show CTCCCCTCCCCTTCCTTCCTCTCCCCTCCCCTTCCCTCCCTTTCCCTCCC CTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCC TCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCT CCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTC CCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTC CCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTC CCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCTCTACACTTC CCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCC CGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTC TTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCC CTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0138 a0001c0002t0138	a0001c0002t0138g0044 a0001c0002t0138g0044	1	218	0.0046	535	c.80+ others(552): Show c.80+30515_80+30516insCCCCTTCCTTCCTCTCCCCTCCCCTTCC CTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCC TCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCT CCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTT CCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCC CATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCC CCTTCTCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTC CCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTC CCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCC CTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCC ATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(528): Show CTCCCCTCCCCTTCCTTCCTCTCCCTCCCCTTCCCTCCCTTTCCCTCCCC TCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCT CCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCCT CCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTC CCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTC CCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTC CCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTC CCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCC CGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTC TTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCC CTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0027 a0002c0006t0027	a0002c0006t0027g0010 a0002c0006t0027g0010	1	218	0.0046	535	c.80+ others(552): Show c.80+30515_80+30516insCCCCTTCCTTCCTCTCCCTCCCCTTCCC TCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCT CCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTC CCCTCCTCCCCCCCTCCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTT CCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCC CATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCC CCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTC CCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTC CCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCC CTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCC ATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79495576	G G	GGTGCGGG others(528): Show GGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGG GGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGA GGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGGGTGCAGGAAGGTGGGA AGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGG CAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGG TGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTG GGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAG AGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGG GGCAGGGGTACTGGAGGCAGGGATGGGGGTGCAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp1 others(14): Show HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01261.hp1 HG01346.hp2 HG02004.hp1 HG02056.hp2 HG02258.hp2 HG02300.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0028 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0002g0108 a0001c0001t0002g0138 a0001c0001t0003g0083 a0001c0001t0010g0006 a0001c0001t0017g0003 a0001c0002t0001g0012 a0001c0002t0001g0063	17	154	0.1104	535	c.-31 others(556): Show c.-319-12979_-319-12978insTCCTGCACCCCCATCCCTGCCTCC AGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCT CCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGC ACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCA TCCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACC CCTCCCCCACCTTCCCACCTTCCTGCACCCCCATCCCTGCCTCCAGTACC CCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCT CTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCA CCTTCCCGCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(528): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	276	0.0036	535	c.132 others(552): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD8_chr2_112363369_112438645	112432885	T T	TCCGCCTC others(528): Show TCCGCCTCAACAGAGCCCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGAC CCCTGACATCGAGGTCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACA GAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCATGACCCCTGACCCATCG AGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAG GGAGCAGCGCCCGTCGGGAGCCATGACCCCTGACCCATCGAGGCCGCCGC CGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGC CCGTCGGGAGCCATGACCCCTGACCCATCGAGGCCGCCGCCGGGCCGGGT CGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAG CCATGACCCCTGACCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCC GCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCTCGGGAGCCATGACCCCT GACCCATCGAGGCCGCCGCCGGGCGGGTCGAGGCCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0232 a0006c0007t0006g0232	1	254	0.0039	535	c.72+ others(548): Show c.72+496_72+497insCGGCCTCGACCCGCCCGGCGGCGGCCTCGATG GGTCAGGGGTCATGGCTCCCGAGGGCGCTGCTCCCTGGCGCGCTCTGTTG AGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGGTCAGGGGTC ATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGC CTCGACCCGGCCCGGCGGCGGCCTCGATGGGTCAGGGGTCATGGCTCCCG ACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGG CCCGGCGGCGGCCTCGATGGGTCAGGGGTCATGGCTCCCGACGGGCGCTG CTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCG GCCTCGATGGGTCAGGGGTCATGGCTCCCGAGGGCGCTGCTCCCTGGCGC GCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGACCTCGATGTC AGGGGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGGGCTCTGTTGAGG CGG	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	1/22			chr2	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(528): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTC TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0045 a0045	a0045c0096 a0045c0096	a0045c0096t0010 a0045c0096t0010	a0045c0096t0010g0203 a0045c0096t0010g0203	1	292	0.0034	535	c.261 others(552): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTG TGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGT GAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTG AGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(528): Show AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAG GGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG GACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	133	0.0075	535	c.351 others(554): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCC CTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(528): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTCACCA CCACCTCCACCATCATCCTCACCATCTCCACCATCACCCTCACCATCCTT CCTCCATCACCTCCACCATCCACCCTCACCATCCTTCATCACCCCCACCA TCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCTCGCCATC CTTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACC TCCACCATCACCCTCGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp1 NA18522.hp2 others(2): Show HG02895.hp1 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0015 others(1): Show a0001c0004 a0001c0010 a0001c0015 a0001c0042	a0001c0004t0014 a0001c0010t0014 a0001c0015t0023 others(1): Show a0001c0004t0014 a0001c0010t0014 a0001c0015t0023 a0001c0042t0014	a0001c0004t0014g0064 a0001c0004t0014g0244 a0001c0010t0014g0223 others(2): Show a0001c0004t0014g0064 a0001c0004t0014g0244 a0001c0010t0014g0223 a0001c0015t0023g0003 a0001c0042t0014g0043	5	244	0.0205	535	c.193 others(554): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GTGAGGGTGATGGTGGGGGTGATGAAGGATGGTGAGGGTGGATGGTGGAG GTGATGGAGGAAGGATGGTGAGGGTGATGGTGGAGATGGTGAGGATGATG GTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGA GAAAGGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGG GTGATGGTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGAT GGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGT GGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGA AAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGG TGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
SAMD11_chr1_918923_949574	934689	G G	GGCTGCGT others(528): Show GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCTGC TCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGG GGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	434	0.0023	535	c.843 others(552): Show c.843-1080_843-1079insGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGG GGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(528): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0216 a0001c0001t0011g0216	1	332	0.0030	535	c.632 others(552): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB1C1_chr11_188078_199575	196121	G G	GGGACATG others(528): Show GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATAGGGGGGACCTGGTGAGGAGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGG GGGGACCTGGTGAGGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGCGGACCTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	354	0.0028	535	c.16 others(546): Show c.1671_*1672insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGACCTGGT GAGGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATAGGGGGGACCTGGTGAGGAGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGCGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGCGGACCTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG A	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1547		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GAGTCTCT others(528): Show GAGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCCCCGTCCCCCGTGTCTCTGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	290	0.0035	535	c.166 others(552): Show c.1663-424_1663-423insAGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTC TGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCCCGTG TCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(528): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTA CAGGTAAGGGGTGAGGGTGATGGGGGGGGTGTCAGTGTGATGGAGAGGGG TCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGG GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0092 a0005c0022t0001g0092	1	316	0.0032	535	c.257 others(554): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCAC CCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCC CTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC CCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(528): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGC CACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	360	0.0028	535	c.173 others(554): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCA GCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCAT CTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGA GGTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(528): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGC CACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp1 HG01934.hp1 others(8): Show HG01256.hp1 HG01261.hp1 HG01934.hp1 HG01952.hp1 HG02074.hp2 HG03654.hp2 HG03834.hp1 HG03927.hp1 NA18967.hp1 NA18974.hp1 NA19000.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0197 others(8): Show a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0007c0008t0001g0242	11	360	0.0306	535	c.173 others(554): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCA GCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCAT CTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGA GGTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(528): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GCGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGC CACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	360	0.0028	535	c.173 others(554): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCA GCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCAT CTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGA GGTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(528): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAATA TATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	300	0.0033	535	c.626 others(552): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATATATACATATAAAATATATATACATATAAAATATATACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATG TTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(528): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTATATATACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATATACATATAAAATATATATACATAT AAAATATATACATATAAAATATATATACATATGTTTTATATGTATATATA CATATAAAACATATATACATATGTTTTATATGTATATATACATATAAATA TATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	300	0.0033	535	c.626 others(552): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTATATATACATATAAA ATATATATACATATGTTTTATATGTATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAA TATATACATATAAAATATATATACATATGTTTTATATGTATATATACATA TAAAACATATATACATATGTTTTATATGTATATATACATATAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATG TTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC37A1_chr21_42508852_42586426	42570282	T T	TTGCCATG others(528): Show TTGCCATGTCATGTGACACATGGCCTGGTTCTGAGAAGCGGCGGGCAGGG TGGCCGTTGCCATGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCAG GCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAG CGGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTGGTTCTGAGAA GCGGCGGGCAGGGTGGCCGTTGCCATGTGACACACGGCCTGGTTCTGAGA AGCGGCGGGCAGGGTGGCCGTTGCCATGTGACACACGGCCTGGTTCTGAG AAGCGGCAGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTGA GAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGG TTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGTCATGCGACACACGGCCTG GTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGCCATGTGACACATGGCCT GGTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	356	0.0028	535	c.142 others(554): Show c.1423+1846_1423+1847insCCATGTCATGTGACACATGGCCTGGT TCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGCGACACACGG CCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGAC ACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGTCATGCGA CACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTG ACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGT GACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCTGTTGCCATG TGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCAT GTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGT TGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCA TTGCCATGTGACACATGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC ATTGCCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM36_chr17_55444856_55516452	55501088	C C	CTATTTTA others(528): Show CTATTTTATATTATAATATATAATATATATTATATTTTATATTATAATAT ATAATATATATTATATTTTATATTATAATATATAATATAATATATATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATACATTATATTTTATGATATATAATATACATTATATTTTATGATAT ATATTATATATTATATTTTATGATATATATTATATATTATATTTTATGAT ATATAATATATATTATATTTTATGATATATAATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0246 a0001c0001t0016g0246	1	340	0.0029	535	c.17 others(554): Show c.174+9790_*174+9791insTATATTATATATCATAAAATATAATA TATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAA TATATAATATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAAT ATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAA ATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATA AAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCA TAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT ATCATAAAATATAATATATATTATATTATATATTATAATATAAAATATAA TATATATTATATATTATAATATAAAATATAATATATATTATATATTATAA TATAAAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246232908	C C	CTTCAATC others(528): Show CTTCAATCGACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCC TCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTC AATTCACACTGTGATGAACATATACCACACAAAGGAGAAGCACTCCTTCA ATCCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAAT TCACACTGTGATGAACATATACCACACACAGGAGAAGCACTCCTTCAATT CACACTGTGATGAACATATACCACACAAAGGAGAAGCACTCCTTCAATTC ACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATCCA CACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAATTCACA CTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAATTCACACT GTGATGAACATATACCACACAGAGGAGAAACGCTCCTTCAATTCACACTG TGATGAACATATACCACACAAAGGAGAAGCACTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp2 HG03225.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0114 a0002c0003t0002g0150 a0002c0003t0002g0114 a0002c0003t0002g0150	2	150	0.0133	535	c.531 others(554): Show c.531+94292_531+94293insAGGAGTGCTTCTCCTTTGTGTGGTAT ATGTTCATCACAGTGTGAATTGAAGGAGCGTTTCTCCTCTGTGTGGTATA TGTTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATG TTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTT CATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTC ATCACAGTGTGAATTGAAGGAGTGCTTCTCCTTTGTGTGGTATATGTTCA TCACAGTGTGAATTGAAGGAGTGCTTCTCCTGTGTGTGGTATATGTTCAT CACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCA CAGTGTGGATTGAAGGAGTGCTTCTCCTTTGTGTGGTATATGTTCATCAC AGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCACAG TGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCACAGTG TCGATTGAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246232908	C C	CTTCAGTC others(528): Show CTTCAGTCGACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCC TCAATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTC AATTCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCA ATCCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAAT TCACACTGTGATGAACATATACCACACAAAGGAGAAGCACTCCTTCAATT CACACTGTGATGAACATATACCACACAAAGGAGAAGCACTCCTTCAATTC ACACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTTCAATCCA CACTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAATTCACA CTGTGATGAACATATACCACACAGAGGAGAAGCACTCCTCAATTCACACT GTGATGAACATATACCACACAGAGGAGAAACGCTCCTTCAATTCACACTG TGATGAACATATACCACACAAAGGAGAAGCACTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 HG02109.hp1 others(4): Show HG01175.hp2 HG01981.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02895.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001 a0002c0003t0001	a0001c0001t0001g0047 a0001c0001t0002g0017 a0001c0001t0002g0023 others(4): Show a0001c0001t0001g0047 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0009t0001g0002 a0002c0003t0001g0105	7	150	0.0467	535	c.531 others(554): Show c.531+94292_531+94293insAGGAGTGCTTCTCCTTTGTGTGGTAT ATGTTCATCACAGTGTGAATTGAAGGAGCGTTTCTCCTCTGTGTGGTATA TGTTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATG TTCATCACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTT CATCACAGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTC ATCACAGTGTGAATTGAAGGAGTGCTTCTCCTTTGTGTGGTATATGTTCA TCACAGTGTGAATTGAAGGAGTGCTTCTCCTTTGTGTGGTATATGTTCAT CACAGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCA CAGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCAC AGTGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCACAG TGTGAATTGAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCATCACAGTG TCGACTGAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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Search Results (Total: 10000 hits)