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(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0309 a0001c0001t0018g0309	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGGTGGCCGGCCGGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCC AGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGA CGGGGCGGCTGGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(530): Show GCCGCCCCGTCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCCGCCGCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCGTCCGGGAGGTGAGGGG CGCCTTGCCCGGCCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	362	0.0028	537	c.-27 others(554): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGGCC GGGCAAGGCGCCCCTCACCTCCCGGACGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGCGGCGGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG ACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PCBP3_chr21_45638725_45947450	45910104	C C	CCCCGCCC others(530): Show CCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACG GACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAG ATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTG CCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACA CACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACC CCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATA TGGACCCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCC GCCCACTGCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACC TGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATAC GGACCCCCCCCCCACCCACTTCCCAGATATGGACCTGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	292	0.0034	537	c.471 others(552): Show c.471+620_471+621insCGCCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCT GGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAG ACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAG ATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACA CTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCC CACCCACTGCCCAGATATGGACCCCCCCCCACCACTGCCCAGATACGGAC CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCTCACCTG CTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCC CACCACTGCCCAGATACGGACCCCCCCCCCACCCACTTCCCAGATATGGA CCTGGCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLCXD1_chrX_276381_308356	296884	A A	ACATGGGG others(530): Show ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCCCCCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCAC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACA TGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCATG GGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGG GGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCCCCCACATGGG GATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGG ATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGA TTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGAT TAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTA GGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0071 a0001c0003t0051g0071	1	176	0.0057	537	c.734 others(554): Show c.734-2182_734-2181insACATTATTCTGTCCCCCACATGGGGATT AGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTA GGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTAGG ACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGA CGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGAC GTGGACATCTTTGGGGCCATTATTCTGTCCCCCACATGGGGATTAGGACG TGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGACGT GGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTG GACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGATTAGGACGTGG ACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTAGGACGTGGAC ATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACA TCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PPP1R14C_chr6_150138044_150255392	150167968	T T	TTCTCCCC others(530): Show TTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTT CTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCCTTCC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	312	0.0032	537	c.306 others(556): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTT TCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCTCCTTCTCTCCTC CCCTTCCTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167968	T T	TTCTCCCC others(530): Show TTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCT CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTT TCTCTCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	312	0.0032	537	c.306 others(556): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCTCTTTCTCTCC TTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCC CTTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCTCCTTCTCTCCTC CCCTTCCTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(530): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCC TCTCTCCCCTCCCTCTCTCCCCTCCCTCTTCCCCCCCCTCCTTCTCTCTC CCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCT TCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTC CCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCCT TCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCT CATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCC CCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCT CCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCC CTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0014 a0002c0015t0014	a0002c0015t0014g0073 a0002c0015t0014g0073	1	210	0.0048	537	c.439 others(556): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTC TTCCCCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGT CCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCC CCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTC CCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCC CTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCT CTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCC CCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCC CTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123896	A A	AGGGTCAA others(530): Show AGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGC GATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG ATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0058 a0001c0001t0012g0058	1	286	0.0035	537	c.335 others(556): Show c.335-11360_335-11359insAGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAAGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAG GATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTAT AGTTGGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124224	C C	CGGCTGTA others(530): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCGTGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTG GTAGTTAGGGTCGTGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGG TGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0131 a0001c0006t0001g0131	1	286	0.0035	537	c.335 others(556): Show c.335-11036_335-11035insCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTAT AGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC GTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGC ATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(530): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGA GTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA TGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGG TGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGATGGGGTGAGTGTGGGG GGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGT GGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGGGGGGG GTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0030 a0030	a0030c0110 a0030c0110	a0030c0110t0076 a0030c0110t0076	a0030c0110t0076g0171 a0030c0110t0076g0171	1	292	0.0034	537	c.261 others(554): Show c.261+1222_261+1223insAGTGTGGGGAGTGAGTGGGGTGAGTGTG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGG GGAGTGAGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGTGTGGGGTGAGTGGGGTGTCTGGGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(530): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTATATATAATATATA ATATATAATTATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATAAATATATATTATATA TTATATATAATATATATTTATATATTATATATTATATATAATATATATTT ATATATTATATATAATATATAAATATATATTATATATATTTAATATATAT TTTATATATAAATTATATATTATATATATTTAATATATATTTTATATATA AATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	188	0.0053	537	c.193 others(556): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAA TTTATATATAAAATATATATTAAATATATATAATATATATTTATATATTA TATATAATATATAAATATATATTATATATAATATATAATATATAAATATA TATTATATATAATATATAATATATATTTATATATTATATATAATATATAA TTATATTTATATATTATATATAAATATATATTATATATAATATATAATAT ATAATTATATATTATATATTATATATAATATATATTTATATATTATATAT AAATATATATTATATATAATATATAATATATATTATATATAATATATATA TTATATTATATATATTATATTATATATATTATATATTATATATAATATAT ATATTATATATAATATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATTATATATTATATATTATATATTATATATTATATA TATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284179	G G	GGGTGAGG others(530): Show GGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTG GGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	290	0.0035	537	c.464 others(550): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAG GGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGG GTTGGGTGAGGGGGGTGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGG GGTGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(530): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGG TGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGG TGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGATG TGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATG GTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTGTGGTAATGGT GATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTGATGTGGGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGT GATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0013 a0001c0001t0052g0013	1	150	0.0067	537	c.914 others(554): Show c.914-2395_914-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCG ATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTG ATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTG ATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGG GGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGG TGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTGTGG TAATGGTGATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTGATGTGGG TGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAA TGTGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATT GTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(530): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGG TGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGG TGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGATG TGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATG GTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTGTGGTAATGGT GATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTGATGTGGGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGT GATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0106 a0001c0001t0038g0106	1	158	0.0063	537	c.860 others(554): Show c.860-2395_860-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCG ATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTG ATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTG ATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGG GGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGG TGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGTGTGG TAATGGTGATGGTGGTAAAGGGGTGATGGTGGTGATTGTGGTGATGTGGG TGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAA TGTGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATT GTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(530): Show AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGC CTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	445	0.0023	537	c.-37 others(548): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GCTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAG TGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAG GCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355834	G G	GGGGGCAG others(530): Show GGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGAAGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGG AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGTTGGGGGA AGGGACCCCATATCTTAGAATGGTGGAATCGGGTGTAAGGGTTGGGGAAG GGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGGGGAAGG GACCCCATATCTTAGAATGGTGAATCGGGGTGTAAGGTTGGGGAAGGGAC CCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGGGAC CCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	422	0.0024	537	c.134 others(554): Show c.134-5799_134-5798insCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAAT CGGGGTGTAAGGGTTGGGGAAGGGCCCCATATCTTAGAATGGTGGAATCG GGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGG TGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGAGTTGGGGAAGGGACCCCATATCTTAGAATGGTGAATCGGGGTGT AAGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GAGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703949	A A	AAAATATA others(530): Show AAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAATA TATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACA TATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTT ATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGT GTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATAT ATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACAC ATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAATA TATATACATATGTTTTATATGTATATATACATATAAAATATATATACATA TGTTTTATATGTATATATATACATATAAAATATATATACATATAAAATAT ATACATATAAAATATATATACATATGTTTTATATGTATATATACATATAA AACATATATACATATGTTTTATATGTATATATACATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	300	0.0033	537	c.626 others(554): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAC ATATATACATATGTTTTATATGTATATATACATATAAATATATATACATA TGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A6_chr15_34224784_34342781	34310781	T T	TGTGTGTG others(530): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTCCCGTGTCCAGGCTGGTGTTGAA CTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGAGTGTGTGTGTG TGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCCGTGTCCAG GCTGGTGTTGAACTCCTGGGCTCAAGAGTGTGTGTGTGTGTGTGTGTGTG TCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGAGTGTGTGTGT GTGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCA AGAGTGTGTGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGA ACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	274	0.0037	537	c.271 others(556): Show c.271+25628_271+25629insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGACACACACACACACACACACACACACACACACACACACTT GAGCCCAGGAGTTCAACACCAGCCTGGACACGGGGACACACACACACACA CACACACACTCTTGAGCCCAGGAGTTCAACACCAGCCTGGACACGGGGAC ACACACACACACACACACACACTCTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACACACACACACACACACACACTCTTGAGCCCAGGAG TTCAACACCAGCCTGGACACGGGGACACACACACACACACACACACACAC ACACACACACACTTGAGCCCAGGAGTTCAACACCAGCCTGGACACGGGGA CACACACACACACACACACACACTCTTGAGCCCAGGAGTTCAACACCAGC CTGGACACGGGACACACACACACACACACACACACACACACACACACACT TGAGCCCAGGAGTTCAACACCAGCCTGGACACGGGACACACACACACACA CACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(530): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0106 a0001c0005t0106	a0001c0005t0106g0029 a0001c0005t0106g0029	1	356	0.0028	537	c.-11 others(558): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SRXN1_chr20_641615_658200	642231	G G	GGGGGGGG others(530): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 NA19004.hp2 HG01070.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0001g0009 a0001c0001t0002g0011	2	422	0.0047	537	c.64 others(548): Show c.6482_*6483insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCAC CCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4383		chr20	TogoVar
SRXN1_chr20_641615_658200	642330	G G	GGGCCCAG others(530): Show GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	422	0.0024	537	c.63 others(548): Show c.6383_*6384insGCCCCCCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4284		chr20	TogoVar
SYNE3_chr14_95402266_95521650	95419899	G G	GGTGGTGG others(530): Show GGTGGTGGTCGTGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGG TGGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTG GTGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGT GGTGATGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGTGGTGGTGG TGATGGCGAGGGTAATGGTGGTAAGGATGATTGCGATGGTGATGGTGGTG ATGGTGAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGAT AGTGATGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATAG TGGTAAGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGATG GTGATGGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGGT AAGGATGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATGG TGTTAAGGATGATGGTGATGGTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0003 a0008c0008t0003	a0008c0008t0003g0313 a0008c0008t0003g0313	1	384	0.0026	537	c.272 others(556): Show c.2728-1874_2728-1873insTACCACCATCACCACCACCATCACCA TCATCCTTAACACCATTGCCCTCACCATCACCACCACCACCATCACCACC ACCGTCATCCTTACCACCATTACCCTCACCATCACCACCACCACTATCTC TACCTCCATCACCATCACTATCACCATCACCACCACCATCACCATCACCA TCATCCTTACCACTATCACCCTCACCATCACCACCACCATCTCTACCTCC ATCATCATCACTATCACCATCACCACCATCACCATCATCCTTACCACCAT CACCCTCACCATCACCACCATCACCATCGCAATCATCCTTACCACCATTA CCCTCGCCATCACCACCACCACCATCTCTACCTCCACCATCATCGTTACT ATCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTAC CCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCA CCATCACCACCACCATCACCATCATCCTTAACACCATCACCCTCACCATC ACGACCACCAC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNGR2_chr17_78163581_78177720	78175213	A A	AGGTGGGT others(530): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAGT TTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTCC TAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTAC AGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATGT AGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCCC TTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACCA AACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTTT TTTTTTTTTAATTTATTTATTTTTTTTTTTATTGATCATTCTTGGGCGTT TCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	450	0.0022	537	c.32 others(548): Show c.3277_*3278insGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTT AGCACGGGTGAAAGTTTTATTTCAGACATGGAGTAAAAAAAAAAATTGAT TCGATCTAAATTTCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTA AAACTATTCAATTACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCA ACTTTCTTACTATGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCAT GTCAAGTGTAGGCCCTTAATTAGAAATGATAAGTAACATTATTTGGGGAG TTAATCAGAAAACCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTT CTTCTTTCTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTTTTTATTGA TCATTCTTGGGCGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACA ATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTT TTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCC CTG	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		2494		chr17	TogoVar
SYNGR2_chr17_78163581_78177720	78175213	A A	AGGTGGGT others(530): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAGT TTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTCC TAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTAC AGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATGT AGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCCC TTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACCA AACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTTT TTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGTT TCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01258.hp2 HG02109.hp1 others(12): Show HG01243.hp1 HG01258.hp2 HG02109.hp1 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG03225.hp1 NA18522.hp1 NA18906.hp2 NA18954.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0008 a0001c0013t0001 a0001c0001t0001 a0001c0001t0008 a0001c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0008g0003 a0001c0013t0001g0048	15	450	0.0333	537	c.32 others(548): Show c.3277_*3278insGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTT AGCACGGGTGAAAGTTTTATTTCAGACATGGAGTAAAAAAAAAAATTGAT TCGATCTAAATTTCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTA AAACTATTCAATTACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCA ACTTTCTTACTATGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCAT GTCAAGTGTAGGCCCTTAATTAGAAATGATAAGTAACATTATTTGGGGAG TTAATCAGAAAACCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTT CTTCTTTCTTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGA TCATTCTTGGGCGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACA ATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTT TTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCC CTG	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		2494		chr17	TogoVar
SYNGR2_chr17_78163581_78177720	78175213	A A	AGGTGGGT others(530): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAG TTTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTC CTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTA CAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATG TAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCC CTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACC AAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTT TTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGTT TCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18990.hp1 NA19056.hp2 NA18986.hp2 NA18990.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	450	0.0067	537	c.32 others(548): Show c.3277_*3278insGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTT TAGCACGGGTGAAAGTTTTATTTCAGACATGGAGTAAAAAAAAAAATTGA TTCGATCTAAATTTCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTT AAAACTATTCAATTACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGC AACTTTCTTACTATGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCA TGTCAAGTGTAGGCCCTTAATTAGAAATGATAAGTAACATTATTTGGGGA GTTAATCAGAAAACCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTT TCTTCTTTCTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGA TCATTCTTGGGCGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACA ATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTT TTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCC CTG	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		2494		chr17	TogoVar
SYNGR2_chr17_78163581_78177720	78175213	A A	AGGTGGGT others(530): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAG TTTTATTTCAGACATGGAGTAAAAAAAAAAGTTGATTCGATCTAAATTTC CTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTA CAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATG TAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCC CTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACC AAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTT TTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGTT TCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA18948.hp1 HG03834.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	450	0.0044	537	c.32 others(548): Show c.3277_*3278insGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTT TAGCACGGGTGAAAGTTTTATTTCAGACATGGAGTAAAAAAAAAAGTTGA TTCGATCTAAATTTCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTT AAAACTATTCAATTACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGC AACTTTCTTACTATGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCA TGTCAAGTGTAGGCCCTTAATTAGAAATGATAAGTAACATTATTTGGGGA GTTAATCAGAAAACCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTT TCTTCTTTCTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGA TCATTCTTGGGCGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACA ATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTT TTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCC CTG	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		2494		chr17	TogoVar
TERT_chr5_1248167_1300068	1273645	A A	AACCGCCA others(530): Show AACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	392	0.0026	537	c.228 others(556): Show c.2287-1366_2287-1365insCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TK1_chr17_78169091_78192052	78175213	A A	AGGTGGGT others(530): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAGT TTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTCC TAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTAC AGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATGT AGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCCC TTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACCA AACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTTT TTTTTTTTTAATTTATTTATTTTTTTTTTTATTGATCATTCTTGGGCGTT TCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0159	1	446	0.0022	537	c.394 others(550): Show c.394-45_394-44insCAGGGACACAAACACTGCGGAAGGCCAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCT GCGAGAAACGCCCAAGAATGATCAATAAAAAAAAAAATAAATAAATTAAA AAAAAAAAAAAAAGAAAGAAGAAAGAAAACACAAAACAAAAACGGAGCTT TTTGTTTGGTTTTCTGATTAACTCCCCAAATAATGTTACTTATCATTTCT AATTAAGGGCCTACACTTGACATGGTAGGGATGGCTCTTGGTTCCAGGAT AAAGCTACATAGTAAGAAAGTTGCAGCTTTAAAGACTCGTAAAACTAATC AGTTCTGTAATTGAATAGTTTTAACAGTATCTTTCTTCCTATTTAGCCTC ATCTTAGGAAATTTAGATCGAATCAATTTTTTTTTTTACTCCATGTCTGA AATAAAACTTTCACCCGTGCTAAAAAAAAAAAAAAAAAAAAAAGAAAAAC CCACC	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	5/6			chr17	TogoVar
TK1_chr17_78169091_78192052	78175213	A A	AGGTGGGT others(530): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAGT TTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTCC TAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTAC AGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATGT AGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCCC TTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACCA AACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTTT TTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGTT TCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01258.hp1 HG02109.hp2 others(12): Show HG01243.hp1 HG01258.hp1 HG02109.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG03225.hp1 NA18522.hp1 NA18906.hp2 NA18954.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0054 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0115 a0001c0004t0002g0164 a0001c0004t0002g0165	15	446	0.0336	537	c.394 others(550): Show c.394-45_394-44insCAGGGACACAAACACTGCGGAAGGCCAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCT GCGAGAAACGCCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAA AAAAAAAAAAAAAGAAAGAAGAAAGAAAACACAAAACAAAAACGGAGCTT TTTGTTTGGTTTTCTGATTAACTCCCCAAATAATGTTACTTATCATTTCT AATTAAGGGCCTACACTTGACATGGTAGGGATGGCTCTTGGTTCCAGGAT AAAGCTACATAGTAAGAAAGTTGCAGCTTTAAAGACTCGTAAAACTAATC AGTTCTGTAATTGAATAGTTTTAACAGTATCTTTCTTCCTATTTAGCCTC ATCTTAGGAAATTTAGATCGAATCAATTTTTTTTTTTACTCCATGTCTGA AATAAAACTTTCACCCGTGCTAAAAAAAAAAAAAAAAAAAAAAGAAAAAC CCACC	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	5/6			chr17	TogoVar
TK1_chr17_78169091_78192052	78175213	A A	AGGTGGGT others(530): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAG TTTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTC CTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTA CAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATG TAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCC CTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACC AAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTT TTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGTT TCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18990.hp1 NA19056.hp1 NA18986.hp2 NA18990.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0009t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0009t0002g0059	3	446	0.0067	537	c.394 others(550): Show c.394-45_394-44insCAGGGACACAAACACTGCGGAAGGCCAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCT GCGAGAAACGCCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAA AAAAAAAAAAAAGAAAGAAGAAAGAAAACACAAAACAAAAACGGAGCTTT TTGTTTGGTTTTCTGATTAACTCCCCAAATAATGTTACTTATCATTTCTA ATTAAGGGCCTACACTTGACATGGTAGGGATGGCTCTTGGTTCCAGGATA AAGCTACATAGTAAGAAAGTTGCAGCTTTAAAGACTCGTAAAACTAATCA GTTCTGTAATTGAATAGTTTTAACAGTATCTTTCTTCCTATTTAGCCTCA TCTTAGGAAATTTAGATCGAATCAATTTTTTTTTTTACTCCATGTCTGAA ATAAAACTTTCACCCGTGCTAAAAAAAAAAAAAAAAAAAAAAAGAAAAAC CCACC	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	5/6			chr17	TogoVar
TK1_chr17_78169091_78192052	78175213	A A	AGGTGGGT others(530): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAG TTTTATTTCAGACATGGAGTAAAAAAAAAAGTTGATTCGATCTAAATTTC CTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTA CAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATG TAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCC CTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACC AAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTT TTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGTT TCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	446	0.0022	537	c.394 others(550): Show c.394-45_394-44insCAGGGACACAAACACTGCGGAAGGCCAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCT GCGAGAAACGCCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAA AAAAAAAAAAAAGAAAGAAGAAAGAAAACACAAAACAAAAACGGAGCTTT TTGTTTGGTTTTCTGATTAACTCCCCAAATAATGTTACTTATCATTTCTA ATTAAGGGCCTACACTTGACATGGTAGGGATGGCTCTTGGTTCCAGGATA AAGCTACATAGTAAGAAAGTTGCAGCTTTAAAGACTCGTAAAACTAATCA GTTCTGTAATTGAATAGTTTTAACAGTATCTTTCTTCCTATTTAGCCTCA TCTTAGGAAATTTAGATCGAATCAACTTTTTTTTTTACTCCATGTCTGAA ATAAAACTTTCACCCGTGCTAAAAAAAAAAAAAAAAAAAAAAAGAAAAAC CCACC	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	5/6			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129088031	G G	GGGCGTCC others(530): Show GGGCGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTA TGACCGGGTGTCCTCCATGACCGGACGTCCTCCATGACCGGGCGTCCTCC ATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCC TCCATGACCGGGCGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGT GTCCTCTATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGG GTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACC GGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGTGTCCTCCCTGACCGGGTGTCCTCTATGACCGGGGTGTCCTCCAT GACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	94	0.0106	537	c.144 others(556): Show c.1444-3330_1444-3329insGGTCAGGGAGGACACCCGGTCATGGA GGACACCCGGTCATGGAGGACACCCCGGTCATAGAGGACACCCGGTCAGG GAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCGGTCAT GGAGGACACCCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCGGT CATGGAGGACACCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCG GTCATAGAGGACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCC CGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACG CCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGA CATCCCGGTCATGGAGGACGCCCGGTCATGGAGGACGTCCGGTCATGGAG GACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCCCGGTCATGG AGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGGTCA TGGAGGACGCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTAGGGA others(530): Show GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGG AGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGGTTAGGGA GGCCGGGGTTATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	537	c.47 others(548): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAACCCC GGCCTCCCTAACCCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCC CTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCT GCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTC CCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCC TAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(530): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp2 HG02155.hp2 others(20): Show HG00558.hp1 HG02040.hp2 HG02155.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18986.hp2 NA18995.hp1 NA19005.hp1 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 a0001c0001t0047	a0001c0001t0001g0142 a0001c0001t0001g0203 a0001c0001t0002g0001 others(13): Show a0001c0001t0001g0142 a0001c0001t0001g0203 a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0123 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0046g0155 a0001c0001t0047g0178	23	388	0.0593	537	c.-23 others(554): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATATACATTTACG TATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATA CATGTATATATACATATATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
VCX2_chrX_8164944_8176267	8169829	T T	TCCCTCCC others(530): Show TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCT CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0036 a0010c0020t0001g0036	1	115	0.0087	537	c.20 others(546): Show c.202_*203insGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG G	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		114		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466671	G G	GGGGAGGG others(530): Show GGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGAGGGAGGGGAGGGAGGGGGGAAGAGGTGGTG TGTGGGGAGGGAGGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTG GGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGAGGGAGGAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0048 a0048	a0048c0057 a0048c0057	a0048c0057t0002 a0048c0057t0002	a0048c0057t0002g0003 a0048c0057t0002g0003	1	271	0.0037	537	c.28 others(546): Show c.288_*289insGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGAGGGAGGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAA GAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGGG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGGAGGAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG A	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		162		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253196	T T	TCTCCTCT others(530): Show TCTCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTC TCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCT CCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTC CCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCT CCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	246	0.0041	537	c.53- others(550): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCT CCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCTCTC CCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(530): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCT CCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCC CTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCTC CTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCT CCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	246	0.0041	537	c.53- others(550): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCC CCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCC CCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTC CCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(530): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0212 a0005c0005t0003g0212	1	246	0.0041	537	c.53- others(550): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTC CCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(530): Show AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGC CTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0002 a0003c0004t0003g0002	1	431	0.0023	537	c.14 others(548): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GCTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAG TGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAG GCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
WDR87_chr19_37879823_37911594	37881010	T T	TATATTAT others(530): Show TATATTATATATATATATATAATATATATATATTATATATATATATAATA TATATATATTATATATATATATAATATATATATATTATATATATAATATA TATATATTATATATATATATATAATATATATAATATATATATAATATATA TATATTATATATATTATATATATTATATATATTATATATATATTATATAT ATATTATATATATAATATATATAATATATATATAATATATATTATATATA TAATATATATATATTATATATATAATATATATATTTAATATATATATTAT ATATATAATATATATTATATATATAATATATATATTTAATATATATTATA TATATAATATATATATTATATATATAATATATATTTAATATATATATTAT ATATATAATATATATATTATATATATATAATATATATATTTAATATATAT ATTATATATATAATATATATATTTAATATATAATATATATATAATATATA TATTATATATATAATATATATATAATATATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0033 a0003c0004t0001g0033	1	330	0.0030	537	c.39 others(548): Show c.3921_*3922insTATAATATATATATTATATATATATTATATATAT AATATATATATTATATATATATTATATATTAAATATATATATTATATATA TAATATATATATTAAATATATATATTATATATATATAATATATATATTAT ATATATAATATATATATTAAATATATATTATATATATAATATATATATTA TATATATAATATATATTAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTAAATATATATATTATATATATAATATATATAT ATTATATATATAATATATATTATATATATATTATATATATTATATATATA ATATATATATAATATATATATAATATATATAATATATATAATATATATAA TATATATATATTATATATATATTATATATATTATATATATATATATAATA TATATATATTATATATATAATATATATATATTATATATATATATAATATA TATATATTATATATATATATAATATATATATATTATATATATATATATAA TAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3812		chr19	TogoVar
ZNF182_chrX_47969851_48008989	47971555	A A	ATGTATAT others(530): Show ATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGT ATACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGT ATACGTATACATATGTATATACACGTGTATACGTATACATATGTATATAC ACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGT ATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATAC ATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATAC GTATACATATGTATATACACGTGTATACGTATACATATGTATATACACGT GTATATGTATACATATGTATATACACGTGTGTATTATACATATGTATATA CACGTGTGTATATGTATACATATGTATATGTATACATATGCATATACGTG TGTATATGTATACATATGCATATACGTGTGTATATGTATACATATGCATA TACATGTGTGTATATGTATACATATGCATATACATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	270	0.0037	537	c.46 others(548): Show c.4611_*4612insCACATGTATATGCATATGTATACATATACACACA TGTATATGCATATGTATACATATACACACGTATATGCATATGTATACATA TACACACGTATATGCATATGTATACATATACATATGTATACATATACACA CGTGTATATACATATGTATAATACACACGTGTATATACATATGTATACAT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATAC ATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACA	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3295		chrX	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(530): Show GTATATATACATGTATACATATATACAAGTATATATATATACTTGTATAC ATATATACTATATATATACATATATACACATATATACGTATATATATGTA TATATACATATATACGTGTATATACGTATATACATGTATATAAGTATATA TACACATATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTGTATATATACGTATATATACA CATATATACATGTATATATACGTATATATACACATATACACATATATACA TGTGTATATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACG TATATATATACGTATATATACATATATACATGTATATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATGTGTATATATACATGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01515.hp2 HG01928.hp1 others(2): Show HG01099.hp1 HG01515.hp2 HG01928.hp1 HG03490.hp1 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0023 a0001c0003t0001g0051 a0001c0003t0001g0004 a0001c0003t0001g0023 a0001c0003t0001g0051	5	383	0.0131	537	c.-42 others(548): Show c.-4232_-4231insTATATATACATGTATACATATATACAAGTATATA TATATACTTGTATACATATATACTATATATATACATATATACACATATAT ACGTATATATATGTATATATACATATATACGTGTATATACGTATATACAT GTATATAAGTATATATACACATATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTGTATAT ATACGTATATATACACATATATACATGTATATATACGTATATATACACAT ATACACATATATACATGTGTATATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACGTATATATATACGTATATATACATATATACATGTAT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATGTGTATATATACATGTATATAT ACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(530): Show GTATATATACATGTATACATATATACAAGTATATATATATACTTGTATAC ATATATACTATATATATACATATATACACATATATACGTATATATATGTA TATATACATATATACGTGTATATACGTATATACGTGTATATAAGTATATA TACACATATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTGTATATATACGTATATATACA CATATATACATGTATATATACGTATATATACACATATACACATATATACA TGTGTATATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACG TATATATATACGTATATATACATATATACATGTATATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATGTGTATATATACATGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	383	0.0026	537	c.-42 others(548): Show c.-4232_-4231insTATATATACATGTATACATATATACAAGTATATA TATATACTTGTATACATATATACTATATATATACATATATACACATATAT ACGTATATATATGTATATATACATATATACGTGTATATACGTATATACGT GTATATAAGTATATATACACATATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTGTATAT ATACGTATATATACACATATATACATGTATATATACGTATATATACACAT ATACACATATATACATGTGTATATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACGTATATATATACGTATATATACATATATACATGTAT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATGTGTATATATACATGTATATAT ACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(530): Show GTATATATACATGTATACATATATACAAGTATATATGTATACTTGTATAC ATATATACTATATATATACATATATACACATATATACGTATATATATGTA TATATACATATATACGTGTATATACGTATATACATGTATATAAGTATATA TACACATATATACATGTATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTGTATATATACGTATATATACA CATATATACATGTATATATACGTATATATACACATATACACATATATACA TGTGTATATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACG TATATATATACGTATATATACATATATACATGTATATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATGTGTATATATACATGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	383	0.0026	537	c.-42 others(548): Show c.-4232_-4231insTATATATACATGTATACATATATACAAGTATATA TGTATACTTGTATACATATATACTATATATATACATATATACACATATAT ACGTATATATATGTATATATACATATATACGTGTATATACGTATATACAT GTATATAAGTATATATACACATATATACATGTATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTGTATAT ATACGTATATATACACATATATACATGTATATATACGTATATATACACAT ATACACATATATACATGTGTATATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACGTATATATATACGTATATATACATATATACATGTAT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATGTGTATATATACATGTATATAT ACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar

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Search Results (Total: 10000 hits)