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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Select column to sort.

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Results per page.

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
PCBP3_chr21_45638725_45947450	45924905	A A	AGTGGATA others(785): Show AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	292	0.0034	792	c.718 others(809): Show c.718-5008_718-5007insATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924905	A A	AGTGGATA others(785): Show AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03491.hp1 HG03942.hp2 HG03139.hp1 HG03491.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0066	3	292	0.0103	792	c.718 others(809): Show c.718-5008_718-5007insATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924910	G G	GTAGAAAC others(785): Show GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0291 a0001c0003t0014g0291	1	292	0.0034	792	c.718 others(809): Show c.718-4988_718-4987insATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924910	G G	GTAGAAAC others(785): Show GTAGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	292	0.0034	792	c.718 others(809): Show c.718-4988_718-4987insATTGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924959	C C	CGGGAACA others(785): Show CGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGAGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAA CAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	292	0.0034	792	c.718 others(809): Show c.718-4947_718-4946insAGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACA GTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(785): Show ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCA AACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00738.hp2 others(8): Show HG00544.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01943.hp2 HG02602.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0016 a0001c0002t0004 others(1): Show a0001c0001t0012 a0001c0001t0016 a0001c0002t0004 a0001c0002t0006	a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0016g0027 others(8): Show a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0016g0027 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0018 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0006g0026	11	292	0.0377	792	c.718 others(809): Show c.718-4779_718-4778insACGAGGAGATGCGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACAC CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGT AAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(785): Show ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCA AACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	292	0.0034	792	c.718 others(809): Show c.718-4779_718-4778insACGAGGAGATGCGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACAC CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGT AAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGGC others(785): Show GGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCAG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0076 a0001c0001t0011g0076	1	358	0.0028	792	c.143 others(807): Show c.143-229_143-228insGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCAG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLA2G6_chr22_38106495_38186830	38110135	G G	GGAGAGAG others(785): Show GGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAG AGAGAGAGAGAGGGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAG GGAGGGGGGGAGAGAGAGAGGAGGGAGAGAGAGAGGAGAGAGGGGAGAGA GAAGAGGAGAGAGCAGAGAGAGAGAGAGAGAGAGAGAGGGACGGGGGAGG ACGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGA GAGAGAGAGAGAGAGGGGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAG AGAGAGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGGGAG AGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGGGAGGGGGAGAGAG AGAGAGAGAGGGATAGAGAGAGAGAGAGAGAGGTGAGAGAGAGAGAGAGA GAGAGGGAGAGAGAGAGAGAGAGGGAGAGAGAGAAGAGAGAGAGAGGGAG AGAGAGAGAGAGACATGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGA GGGATAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGATA GAGAGAGAGAGAGAGAGAGGGAGAGGAGAGAGGGAGAGAGGAGAGAGAGG AGAGAGAGAGAGAGAGAGGGAGAGAGAGACAGAGAGAGAGAGAGGGGAGA GAGAGAGAGAGAGGGAGAGGAGAGAGAGAGAGAGAGGGAGAGGAGAGAGA GAGAGAGAGAGGGAGAGAGAGAGAGAGACAGGGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	10	0.1000	792	c.20 others(803): Show c.2025_*2026insGTCTCTCTCTCCCTGTCTCTCTCTCTCTCTCCCT CTCTCTCTCTCTCTCTCCTCTCCCTCTCTCTCTCTCTCTCCTCTCCCTCT CTCTCTCTCTCTCCCCTCTCTCTCTCTCTGTCTCTCTCTCCCTCTCTCTC TCTCTCTCTCCTCTCTCTCCTCTCTCCCTCTCTCCTCTCCCTCTCTCTCT CTCTCTCTCTATCCCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCT CTCTATCCCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCATGTCTC TCTCTCTCTCTCCCTCTCTCTCTCTTCTCTCTCTCCCTCTCTCTCTCTCT CTCCCTCTCTCTCTCTCTCTCTCTCACCTCTCTCTCTCTCTCTCTATCCC TCTCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTCTCTCTCTGTCTC TCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCCCCC TCCCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCCCCTCTCT CTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCT CTCTCTCGTCCTCCCCCGTCCCTCTCTCTCTCTCTCTCTCTCTCTGCTCT CTCCTCTTCTCTCTCCCCTCTCTCCTCTCTCTCTCCCTCCTCTCTCTCTC CCCCCCTCCCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCCCTC TCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCCCTCTC TCTCTCTC	PLA2G6	ENSG00000184381.20	transcript	ENST00000332509.8	protein_coding		1359		chr22	TogoVar
RFX2_chr19_5988164_6115500	6070038	G G	GGAATGGG others(785): Show GGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATGGG ATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATG GGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAGAA TCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGATGT GGATGGGGTGGGATGGGATGGGATGTGGATGGGACGGAATGGGATGTGGA TGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGTGG GATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGAT GTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAG AGTGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATG GGATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGAT GGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGAATGGGATGTGGATGGGATGT GATGGGATGTGGATGGGGTGGAATGGGATGTGGATGGGGTGGGATGAGAT GTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATGTGGATGG GGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGAGTGGGAT GGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18953.hp1 HG02027.hp1 NA18953.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0003 a0003c0005t0001 a0003c0005t0003	a0003c0005t0001g0045 a0003c0005t0003g0020 a0003c0005t0001g0045 a0003c0005t0003g0020	2	308	0.0065	792	c.-8- others(809): Show c.-8-22535_-8-22534insTATCCACATCCCATCCCATCCCATCCAC ATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCATCCCATCC ACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACATCCCT TTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATTCCACCC CATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATCCCAT CCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCAC ATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCT ATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATC CCATCCCATCCCACTCTATCCACATCCCTTTCCATCCCATCCACATCTCA TCCCACCCCATCCACATCCCATCCTACCCCATCCACATCCCTTTCCATCC CATCCACATCTCATCCCACCCCATCCACATCCCGTTCCACCCCATCCACA TCCCATCACATCCCATCCACATCCCATTCCGTCCCATCCACATCCCATCC CATCCCACCCCATCCACATCCCATCCCACCCCATTCACATCCCATTCCAC CCCATTCACATCCGATTCTATCCCATCCACATCCCATTCCATCCCATCCA CATCCCATTCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCAT CCCACCCCATCATATCCCATTCCACCCCATTCACATCCGATTCTATCCCA TCCACATCCCATTC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130646425	C C	CCCTCACC others(785): Show CCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCC CTCACCACCTGCCTCACCACCTCCCTCACCACTTCCCTCTCCACCTCCCT CACCACCTGCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCA CCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACC ACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCAC CTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCACCACCT CCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTGCCTCACCACCTGC CTCTCCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCT CTCCACCTCCCTCACCACCTGCCTCACCACCTGCCTCTCCACCTCCCTCA CCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCCTCACC ACCTCCCTCGCCACCTCCCTCGCCACCTGCCTCACCACCTGCCTCTCCAC CTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCT CCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCC CTCACCACCTCCCTCGCCACCTGCCTCGCCACCTCCCTCGCCACCTGCCT CACCACCTCCCTCGCCACCTCCCTCGCCACCTCCCTCACCACCTCCCTCA CCACCTCCCTCGCCACCTGCCTCACCACCTCCCTCGCCACCTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0011 a0011	a0011c0050 a0011c0050	a0011c0050t0001 a0011c0050t0001	a0011c0050t0001g0104 a0011c0050t0001g0104	1	180	0.0056	792	c.-35 others(813): Show c.-351-17970_-351-17969insCAGGTGGCGAGGGAGGTGGTGAGG CAGGTGGCGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGCGAGGGA GGTGGCGAGGGAGGTGGTGAGGCAGGTGGCGAGGGAGGTGGCGAGGCAGG TGGCGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTG GAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGA GAGGGAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGCAGGTGGCGA GGGAGGTGGCGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGG CAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGCA GGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGG TGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGCAGGTGGTGAGGGAGGTG GAGAGGGAAGTGGTGAGGGAGGTGGTGAGGCAGGTGGTGAGGGAGGTGGA GAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGA GGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGG GAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGA GGTGGTGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGG TGGTGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTG GTGAGGGAGGTGGTGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(785): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGGACAGGGCGAGAGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGA GAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAG GGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCG AGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGA GGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0018 a0001c0001t0034g0018	1	133	0.0075	792	c.351 others(811): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC TCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCG CCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGC CCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTC CCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340766	T T	TCCCACCC others(785): Show TCCCACCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGCCT CCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACAC TCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCAC CCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCAC ATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTG CCCTGGGCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGC CTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCAC ACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCC ACCCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCC ACATCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCC ACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCC CCACCCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCC CCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTC ACTGCCCCCCACCCAGGCCTCCCCACTTCCACACTCACTGCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	133	0.0075	792	c.-21 others(811): Show c.-212-6833_-212-6832insGGGCAGTGAGTGTGGAAGTGGGGAGG CCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGC AGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATG TGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG TGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAG TGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGA GGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGA CGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTG GGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTG AGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGCCCAGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG AGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTG GACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCC TGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAG TGAGTGTGGACGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(785): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAGAA GGAGGAGGAAGAGAAAAGGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAG AAGGAGGAACAGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGA GGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGG AGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAG GAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAA GAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAG AAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGAT AAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAA AGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGA GGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGG GAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGG AGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	314	0.0032	792	c.916 others(809): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTC TCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTC CTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTT TTCTCTTCCTCCTCCTTCTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCC TCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTC CTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTTC CTCCTCTTTCTCCTCTTCCTCCTCTTCCTCCTCCTCCTCTTTCTCCTCCT CCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(785): Show AATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGT TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGAT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0264 a0001c0003t0004g0264	1	376	0.0027	792	c.101 others(811): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432156	C C	CAGGGTGG others(785): Show CAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAG GGTGGAGAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	376	0.0027	792	c.101 others(809): Show c.1014-804_1014-803insTTAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGAGAG GGTGGAGAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(785): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCTCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGCGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTAGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGG TCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGT GAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	360	0.0028	792	c.173 others(811): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCTCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGCGTCAGCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTAGGGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCAGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCC ACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCG GGAGGGAGATGGGGGG	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(785): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATATG TATATATATACATATAAAATATATATACATATAAAATATATATGTTTTAT ATGTATATATACATATAAAATATATATACATATGTTTTATATGTATATAT ATACATATAAAACATATATACATATGTTTTATATGTGTATATATACATAG AAAATATATATAATATATATACATATGTTTTATATGTATATATATACATA GAAAATATATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp2 HG03195.hp2 HG02615.hp1 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118	3	300	0.0100	792	c.626 others(809): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTATATATACATATAAAATATATATACATATGTTTTATATGTATA TATATACATATAAAATATATATACATATAAAATATATATGTTTTATATGT ATATATACATATAAAATATATATACATATGTTTTATATGTATATATATAC ATATAAAACATATATACATATGTTTTATATGTGTATATATACATAGAAAA TATATATAATATATATACATATGTTTTATATGTATATATATACATAGAAA ATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATAT ACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCTATC others(785): Show CATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCATCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCTATCCATCTATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0384 a0002c0005t0002g0384	1	420	0.0024	792	c.107 others(809): Show c.1075+214_1075+215insAGATGGATGGATGGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATAGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATAGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMOC2_chr6_168436184_168672992	168659504	G G	GAGGGTGG others(785): Show GAGGGTGGAGGTTGTAGTATGGGTGAGGGTGGAGGTTGTAGTATGGGTGA GGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAAG GTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGGTGAGGGT GGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTAAGGGTAG AGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGATGGTGGAG GCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT AGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGAGGGTGGAGGTTGTAG GCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGGCGGTTGT AGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAGGTTATAG TATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTTGTAGGTT GGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTATTAGTATG GGTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGCTAGGTGA GGGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGG TTGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGGTGAGAGT GGGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01081.hp2 others(16): Show HG00099.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01496.hp2 HG02074.hp2 HG02109.hp1 HG02572.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0013 a0002c0012	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0014 a0001c0003t0004 a0001c0008t0002 a0001c0013t0002 a0002c0012t0010	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 others(16): Show a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0014g0005 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102 a0001c0008t0002g0042 a0001c0013t0002g0033 a0002c0012t0010g0076	19	180	0.1056	792	c.128 others(811): Show c.1286-4554_1286-4553insTATGGGTGAGGGTGGAGGTTGTAGTA TGGGTGAGGGTAGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTG GGTGAAGGTGAAGGTTGTTTGCTGGTTGAGGGTGGAGGTTATAATATGGG TGAGGGTGGAGGTTGTATTGTGAGTGAGGGTGGAGGTTGTAGGCTGGGTA AGGGTAGAGGTTGTAGCTTGGATGAGGGTGGCAGTTGTAGGTTGGGTGAT GGTGGAGGCTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGT AGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGG AGGTTATAGTATGGGTGAGGGTGGAGGTTTTTTGGTGATTGAGGGTGGAG GTTGTAGGCTGGGTAAGGGTAGATAGAGATTGTAGCTTGGATGAGGGTGG CGGTTGTAGGCTGGGTGAGGGTGGTGGTTGTAGGTTGGGTGATGGTGGAG GTTATAGTATGGGTGAGGGTAGAGGTTTTAGGTTGGTGAGGGTAGAGGTT GTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTGGTTGATGGTGGAGGTTAT TAGTATGGGTGAGGGTGGAGGTTTGGTGATTGAGGGTGGAGGTTGTAGGC TAGGTGAGGGTAGAGGTTGTAGGTTGAGTGAGGGTGGAGGTTGTAGGTTG GGTGAGGTTGTAGATTAGAGGCTGGGTGAGGGTGTTGGTTGTTGTCTGGG TGAGAGTGGGGGTTGTAGGCTGGGTGAGGGTGGAGGTTGTAGGTTGGATA AGGGTGGAGGTTGTAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(785): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	322	0.0031	792	c.909 others(807): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(785): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp1 HG02886.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0146 a0001c0001t0011g0234 a0001c0001t0011g0146 a0001c0001t0011g0234	2	322	0.0062	792	c.597 others(809): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCC CTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTT CCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTT CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCT CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTC CTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(785): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0204 a0001c0001t0011g0235 a0001c0001t0011g0204 a0001c0001t0011g0235	2	322	0.0062	792	c.597 others(809): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTC CTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCC CTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTT CCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTT CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCT CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTC CTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(785): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCG GAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	112	0.0089	792	c.142 others(811): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAG TCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGG TGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTA ACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTC CTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATG TGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(785): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCAGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCG GAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	112	0.0089	792	c.142 others(811): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCAGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAG TCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGG TGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTA ACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTC CTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATG TGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(785): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCA GAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02486.hp2 others(2): Show HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02976.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0002c0003t0009	a0001c0001t0002g0012 a0001c0001t0005g0055 a0001c0001t0009g0043 others(2): Show a0001c0001t0002g0012 a0001c0001t0005g0055 a0001c0001t0009g0043 a0001c0001t0009g0048 a0002c0003t0009g0034	5	112	0.0446	792	c.142 others(811): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAG TCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGG TGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTA ACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTC CTGATGCAGGACCAGAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATG TGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(785): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCG GAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 NA19240.hp2 HG01884.hp2 HG02451.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0002g0014 a0001c0001t0004g0021 a0001c0001t0011g0023 a0001c0001t0002g0014 a0001c0001t0004g0021 a0001c0001t0011g0023	3	112	0.0268	792	c.142 others(811): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAG TCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGG TGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTA ACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTC CTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCTGATG TGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89884843	C C	CCTCTCCC others(785): Show CCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTCTGCCTGACGCCCTCTC CCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCGTCTGCCTGACGCCCTC TCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCC TGACGCCCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTC CCTCTGCCTGACCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCT GACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGC CTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCT GCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCC CTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	300	0.0033	792	c.429 others(807): Show c.429+190_429+191insTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTC TGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGC CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCG TCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGAC GCCCTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGACGCCCTCTCCCTC TGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCCTGACGC CCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTC CCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTG ACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCT CCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCC TGACGCCCTCTC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(785): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	314	0.0032	792	c.189 others(809): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157311001	C C	CATCATAG others(785): Show CATCATAGTGTGCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCAG TGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGC CTAATCATAGTGTCCCAGTGAGCACTCACCTGGCCTAATCATAGTGTCCC AGTGTCCGCTTACCTAGCCTCATCATAGTGGCCCAGTATCCGATCACCTA GATTCATCATAGTGCCCCAGTGTGTGCTCACCTAGCCTCATCACAGTGTC CCAGTGTGCACTCACCTAGCCTCATCACAGTGCCCCAGTGTGCGCTCACC TAGCCTCATCATAGTGTCCCAGTGTACACACACCTGGCCTCATCACAGTG CCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTACACACA CCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAG TGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACT CACCCGGCTTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCAC AGTGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCG CTCACCTAGCCTGATCATAGTCCCCCAGTGTGCACTCACGTGGCCTCATC ATACTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAG CACTCAACGGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCA CCATAGTGGCCCAGTATCCGATCACCTACATTCATCATATTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG02451.hp2 others(1): Show HG01891.hp1 HG01934.hp2 HG02451.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0274 a0001c0001t0008g0315 a0001c0001t0008g0316 others(1): Show a0001c0001t0008g0274 a0001c0001t0008g0315 a0001c0001t0008g0316 a0001c0001t0008g0318	4	344	0.0116	792	c.327 others(809): Show c.327+7780_327+7781insACAATATGATGAATGTAGGTGATCGGAT ACTGGGCCACTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGAT TAGGCCCGTTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGC ACACTGGGACAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATG ATCAGGCTAGGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGC GCATACTGGGACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCCTA TGATGAAGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGA GTGCACACTGGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACAC CATGATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAGGCTAGGT GAGCGCACACTGGGGCACTGTGATGAGGCCAGGTGTGTGTACACTGGGAC ACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTGTGATGAGGCTAG GTGAGTGCACACTGGGACACTGTGATGAGGCTAGGTGAGCACACACTGGG GCACTATGATGAATCTAGGTGATCGGATACTGGGCCACTATGATGAGGCT AGGTAAGCGGACACTGGGACACTATGATTAGGCCAGGTGAGTGCTCACTG GGACACTATGATTAGGCCAGGTGAGTGCACACTGGGGCACTATGATGAGG CCAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGTGCACAC TGGCACACTATGAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(785): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCTCGG GACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACA TCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCC CTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCC CTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	260	0.0039	792	c.54 others(803): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACATAC CCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTC CAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCT CGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGAC ACATCCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(785): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0010 a0001c0001t0016g0010	1	174	0.0058	792	c.41- others(809): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028618	G G	GAAGACCC others(785): Show GAAGACCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ATACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAG ACCCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCC CATCACACCATCCTGAAGACCCACACATACCCTCGTAAAGACCCCCATCA CACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCAT CCTAAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCATCCTAA AGACCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCCCACACACACT CGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCGTGAA GACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCA TCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTAAAGACCCACACACACACTCGTAAAGACCCCATCACACCATCCTG AAGACCCCACATACCCTCGTAAAGACCCCATCACACCATCCTA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	224	0.0045	792	c.225 others(811): Show c.2251+1811_2251+1812insTAGGATGGTGTGATGGGGTCTTTACG AGGGTATGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGTGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAG GACGGTGTGATGGGGTCTTCACGAGGGTGTGTGGGGGTCTTTAGGACGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGATG GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACG AGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGT ATGTGTGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGT GGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGTGGGTC TTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAG GACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACGAG TGTGTGTGGGGGTCTT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CCACACAC others(785): Show CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCTACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCTACACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACCCCACACACCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCTACACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCCAACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACACCCTACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACAAACCACACACCCTACACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	338	0.0030	792	c.35 others(811): Show c.35+21901_*35+21902insACACACACCACACCCCACACACACCA CACACCCCACACACACCACACACCCTACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACACCCTACACACCCCACACACACCACA CCCCACACACACCACACCCCATACACACCACACCCCACACACCCCACACA CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCTACACACCCCACA CACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCCAACACACCACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACACCCTACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACCACACACACCACACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACAAAC CACACACCCTACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(785): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACT CCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0147 a0001c0003t0002g0147	1	324	0.0031	792	c.61 others(803): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCC TCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGC CTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(785): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACT CCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	324	0.0031	792	c.61 others(803): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCC TCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGC CTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
ZBTB34_chr9_126855639_126890878	126876179	C C	CTTCCCCC others(785): Show CTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCTTCCCC CTTCCCCCTTCCCCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCT TCCCCCCTTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCCT TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCCTTTCCCCCTTCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	246	0.0041	792	c.-10 others(809): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TTTCCCCTTCCCCTTCCCCCTTCCCCCTTCCCCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCTTCCCCCTTCCCCCCTCCCCCTTCC CCCCTTCCCCCCTTCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCTCTTCCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(785): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCA TCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCTT CCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCC CCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCC TCCCCCTTCCCTCCTCCCTCCCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCC CTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTC CCTCCCCTTCCCTCCTCCCTCCCCCTCCCCCGTCCCCTCCTCCTCCCCCT CCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCC CCTCTCCCCTCCCCCTCCCCTCCCCACTCCCCCTCTCCTCCCCCTCCTCT TCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCT CCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCC TCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCT CTCCTCCCCTCACCTGTCCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	322	0.0031	792	c.4-1 others(805): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCC CCCCCTCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCC CTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCC TCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCCTCCCCTCCCCCTT CCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCC CCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCCCTCCCTCCCCTCCCCC TTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCC CTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCCGTCCCCTC CTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCT CCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCACTCCCCCTCTCCT CCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTC TCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTC CCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCT GTCCCTCCCCTCTCCTCCCCTCACCTGTCCCCTCCCCTCTCCCCTTCCCC CTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(785): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCTCCCTCCCCTC CTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCT TCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCC TCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTC CCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCC CCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCCTCCCCTCCCCTTCCTCC TCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTC CTCCTCTCCTCCTCCCTCCCCTCCCCCCCTCCCTCCCCTCCCCCTTCCCT CCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCC TCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCC CCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCC TCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTC TTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCC TCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCC CTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCC TCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	322	0.0031	792	c.4-1 others(805): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC TCCCTCCCCTCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCT CCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCT CCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCT TCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCC TCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCCTCCCCT CCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCC CCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCCTCCCTCCCCT CCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCC CTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCC CCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCT CCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCC TCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCT CTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCT CCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACC TGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCC CTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(786): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCCCGTGTCCCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	295	0.0034	793	c.37 others(804): Show c.3716_*3717insGCAGAGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGG GACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAG GGACACGGGACGGGGCAGGGACACGGGGGACGGAGCAGACACGGGACGGA GCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGG GACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAG AGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACG GAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACAC GGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGC AGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGA CGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGAC ACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAGCAG AGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACG GGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACAC GGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGC AGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(786): Show TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCC TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCT CCTGCCCTCCTCCCCTCCTGCCCACCTGCCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCC CTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCT CCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCT CCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT CCCCTCATGCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCC CCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0017 a0001c0013t0017	a0001c0013t0017g0045 a0001c0013t0017g0045	1	210	0.0048	793	c.273 others(810): Show c.2734+192_2734+193insCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCC CTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCC TCCCCTCCTGCCCTCCTCCCCTCCTGCCCACCTGCCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCC TCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTG CCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCC CTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCC CCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCT CCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC TCCCCTCCTGCCCTC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(786): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTAC TCACCTTCCAACCCTCCCACTATTTCCTCCCCCACTACTCACCTTCCAAC CCTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTTCCTCC CCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACTACTCAC CTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCATCCAACCCTTC CACTATTTCCCCCCCACTACTCACCATCCAACCCTCCCACTATGTCCTCT CCCACTACTCACCTTCCAACCCTCCTATTCCCCCCACTACTACTCACCAT CCAACCCTCCCAGTACTCACCTTCCAACCCTCCCACTATTCCCCCCTACT ACTCACCTTCCAACCCTTCCACTATTTCCCCACTACTACTCACCTTCCAA CCCTCCCACTATTTCCTCCCTCCAACTACTCACCTTCCAACCCTCCTACT ATTCCCCCGCTACTACTCACCTTCCAACCCTCCCACTATTCCCCCACTAC TGCCCACCTTCCAACCCTCCCACTATTCCCCCGCTACTACCTACCTTCCA ACCCTCCCACTATTTCCTCCCACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0231 a0001c0001t0006g0231	1	242	0.0041	793	c.266 others(810): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGTGG GAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGGTTGGAA GGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGG GGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAG GGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGC AGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CENPM_chr22_41933737_41952152	41939884	A A	AAGAAAAA others(786): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAATGAAAAAGAAAGAAAAAGAAAGAAAGAAAAGA AGAAAAGAAAGAAAAGAAAGTAAAAGAAAGAAAAAGAAAGAAAAAGAAAA GAAAGAAAGAAAGAAGAAAGAAAGAAAAAGAAAAGAAAGAAGAAAGAAGA AAGAAAAGAAAGAAAAAGAAAGAAGAAAAAGAAAGGAAGAAAGAAAGAAA GAAAGAAAGAAAAGAAAAAGAAAGAAAGAAGAAAAGAAAAAGAAAGAAAG AAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAA GAAAGAAAAAGAAAGAAAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA AAGAAAGAAAGAAAAAGAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGATAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAGAAAGAAAGAA AGAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0188 a0001c0002t0004g0188	1	258	0.0039	793	c.403 others(808): Show c.403-689_403-688insCTTTCTTTCTTCTTTCTTTTTCTTTCTTTT TCTTTCTTTCTTCTTTCTTTCTTTCTTCTTTCTTTTTCTTTCTTTCTTTT TCTTTCTTTTTCTTTCTTATCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTCTT TTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTTTC TTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTT TCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTT CTTTCTTTTTCTTTCTTTCTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTCTTCTTTCTTTCTTTTTCTTTTCTTCTTTCTTTCTTTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTTTCTTCTTTCTTT TTCTTTCTTTTCTTTCTTCTTTCTTCTTTCTTTTCTTTTTCTTTCTTTCT TCTTTCTTTCTTTCTTTTCTTTTTCTTTCTTTTTCTTTCTTTTACTTTCT TTTCTTTCTTTTCTTCTTTTCTTTCTTTCTTTTTCTTTCTTTTTCATTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT TCTTTCTTTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(786): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01978.hp1 HG02273.hp1 others(2): Show HG01071.hp2 HG01978.hp1 HG02273.hp1 HG02293.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0022 a0001c0002t0002g0033 others(2): Show a0001c0002t0002g0010 a0001c0002t0002g0022 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0045	5	204	0.0245	793	c.223 others(814): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAATATTACAG ATACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGAATTACAG ATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGTATTTGAT GCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTGGCCAAAT AATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATATTTCTCCA TATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCCTAAAGAA AATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAAAAAGGGA AGGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATACCTGACGT AGCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCATCCCACA TGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGTTATGTCC CTTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAGACAACAC TGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCTTGAGTCA CTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGGCTACATG AAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATCCAGGCTG AGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGGAGAGGGG TCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(786): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAA TAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGC GATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCA CTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGG TCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCC TCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGTG CCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTC AGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAG CTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAG AATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18986.hp1 NA18991.hp1 others(1): Show HG00558.hp1 NA18986.hp1 NA18991.hp1 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0017 a0001c0003t0003g0281 a0001c0003t0003g0017 a0001c0003t0003g0281	4	410	0.0098	793	c.138 others(812): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT GGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTA GCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGC CTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTT TTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACTG TGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCCT TGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(786): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGAGACTGTCCCAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAA TAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGC GATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCA CTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGG TCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCC TCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTG CCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTC AGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAG CTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAG AATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03540.hp1 HG02572.hp2 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0018 a0001c0006t0007g0018	2	410	0.0049	793	c.138 others(812): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTGG GACAGTCTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTA GCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGC CTCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTT TTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCACTG TGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCCT TGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(786): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCCACCCCACCCACCGA CCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGT AGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGA GTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGAT GACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAA TAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGC GATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCA CTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGG TCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCC TCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTG CCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTC AGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAG CTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAG AATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02897.hp1 HG03492.hp1 others(2): Show HG02080.hp2 HG02897.hp1 HG03492.hp1 HG03942.hp2 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0012 a0001c0003t0025 a0002c0002t0002 a0001c0001t0012 a0001c0003t0025 a0002c0002t0002	a0001c0001t0012g0113 a0001c0003t0025g0297 a0002c0002t0002g0068 others(2): Show a0001c0001t0012g0113 a0001c0003t0025g0297 a0002c0002t0002g0068 a0002c0002t0002g0082 a0002c0002t0002g0088	5	410	0.0122	793	c.138 others(812): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCAC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGTT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTG GGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATCGTAG CTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTCAGCC TCCCAAATAGCTGGGACTACAGGTGTATGCCACCACACCCAGCTAATTTT TTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGGTCTCACTG TGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTGCCT TGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(786): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAA TAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGC GATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCA CTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGG TCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCC TCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTG CCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTC AGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAG CTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAG AATAGTAAAACTGGCCGGGTGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00639.hp1 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0051 a0001c0001t0002g0006 a0001c0001t0002g0051	2	382	0.0052	793	c.65 others(804): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA ATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTAT TTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAA CTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGAT TATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATC TTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCT GGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAG GTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTG GATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAA CAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATT TATATGAAACTCAAGAATAGTAAAACTGGCCGGGTGCAGTGGCTCACACC TGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(786): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAA TAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGC GATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCA CTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGG TCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCC TCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACTGTG CCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTC AGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAG CTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAG AATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18986.hp2 NA18991.hp2 others(1): Show HG00558.hp2 NA18986.hp2 NA18991.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0184 a0002c0002t0003g0193 a0002c0002t0003g0205 others(1): Show a0002c0002t0003g0184 a0002c0002t0003g0193 a0002c0002t0003g0205 a0002c0002t0003g0209	4	382	0.0105	793	c.65 others(804): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAA ATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTAT TTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAA CTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGAT TATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATC TTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCT GGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAG GTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTG GATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAA CAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATT TATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACC TGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar
CHRNA5_chr15_78560520_78600269	78599765	T T	TAGCACTT others(786): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGAGACTGTCCCAAAAAAAAAAAAAAAATTAAAAAAAGGCTA AAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAGAAA TAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGC GATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCA CTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATGAGG TCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAATCC TCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTG CCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTCTTC AGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCTCAG CTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTCAAG AATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03540.hp1 HG02572.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0042 a0001c0001t0009g0300 a0001c0001t0009g0042 a0001c0001t0009g0300	2	382	0.0052	793	c.65 others(804): Show c.6512_*6513insAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTT GAGTCCAGGAGTTCGAGACCAGCCTGGGCAACACAGTGAGACCCCCCCCC ACCCCACCCACCGACCTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGG TGGCATACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGTTGGAGGATC GCTTGAGCCCAGGAGTTAGAGGCTACAGTGAGCTACGATGGCTCCACTGC ACTCCAATGTGGATGACAGAGCAAGAGACTGTCCCAAAAAAAAAAAAAAA ATTAAAAAAAGGCTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTAT TTTTTTTGGTAGAAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAA CTCCTGGGCTCAAGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGAT TATAGGCATGAGCCACTTTACCCATCCCCTCACTTTTATTATTTATTATC TTTTAAGAGATGAGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCT GGCCTCAAGCAATCCTCCTGCTTTGGCCTTCCAAACTGCTGGGATTACAG GTGTGAGCCACTGTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTG GATACAAAACTCTTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAA CAGCCCCGGCCTCAGCTACGGGAAAAGTTTATATACTATGTGATTCCATT TATATGAAACTCAAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACC TGTAATCCC	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		4497		chr15	TogoVar

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Search Results (Total: 8931 hits)