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
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(850): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0269 a0001c0007t0012g0269	1	314	0.0032	857	c.916 others(874): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCT TTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCC CTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTC CTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCT CTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCT CCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(850): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 NA18522.hp2 others(1): Show HG02280.hp2 HG02572.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0007t0004 others(1): Show a0001c0002t0002 a0001c0007t0002 a0001c0007t0004 a0001c0007t0014	a0001c0002t0002g0020 a0001c0007t0002g0019 a0001c0007t0004g0121 others(1): Show a0001c0002t0002g0020 a0001c0007t0002g0019 a0001c0007t0004g0121 a0001c0007t0014g0136	4	314	0.0127	857	c.916 others(874): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCT TTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCC CTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTC CTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCT CTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCT CCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(850): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	314	0.0032	857	c.916 others(874): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCATTCCCTC CTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCT TCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCT CCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCT CCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCT TCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTC CTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCT CTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCT CCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(850): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAG GAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGA GGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAG AAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAG GAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAG GAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAG GAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGA GGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0289 a0001c0008t0004g0289	1	314	0.0032	857	c.916 others(874): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTC CTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTT CTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCC CCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCT CCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTC CCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTC TTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCT CCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCT CCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCT CCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(850): Show GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0110 a0002c0003t0001g0110	1	290	0.0035	857	c.166 others(874): Show c.1663-422_1663-421insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GATGAAGG others(850): Show GATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGAAGGGAGAAGGAGGGATGG AGAAGGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGG AGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGG AGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGGGGGAGGCAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGG AGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGGAGGAGGAGGGAGA AGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAG GAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGG AGGGAGAAAGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAAGG AGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGA AGAGGAGGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAG AGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAG GAGGGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02647.hp1 HG02451.hp2 HG02572.hp2 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0024 a0001c0003 a0001c0024	a0001c0003t0001 a0001c0024t0001 a0001c0003t0001 a0001c0024t0001	a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0024t0001g0059 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0024t0001g0059	3	214	0.0140	857	c.206 others(876): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCC TCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCTTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTC CCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCC TCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTT CTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCCCC TTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGC CTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTGCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCTTCCTTCTCCATCCCTCCTTCTCCCT TCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCC TCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCCTTCTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCAT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(850): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0195 a0001c0001t0025g0195	1	322	0.0031	857	c.597 others(874): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCC TTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(850): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(29): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01192.hp2 HG01243.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG03516.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18747.hp2 NA18947.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18981.hp2 NA18982.hp2 NA19005.hp1 NA19055.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0001t0056 a0001c0001t0087	a0001c0001t0001g0081 a0001c0001t0002g0021 a0001c0001t0002g0022 others(29): Show a0001c0001t0001g0081 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0003g0060 a0001c0001t0004g0088 a0001c0001t0005g0284 a0001c0001t0008g0223 a0001c0001t0012g0102 a0001c0001t0022g0076 a0001c0001t0023g0036 a0001c0001t0023g0066 a0001c0001t0029g0043 a0001c0001t0031g0024 a0001c0001t0031g0085 a0001c0001t0039g0073 a0001c0001t0056g0020 a0001c0001t0087g0299	32	322	0.0994	857	c.597 others(874): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(850): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	322	0.0031	857	c.597 others(874): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(850): Show CCGATCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACTGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCTGTGACCGATCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp1 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0342 a0001c0001t0001g0312 a0001c0001t0001g0342	2	392	0.0051	857	c.228 others(876): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGATCGGTCACAGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAG GGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGTGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(850): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCACATGATGATATGATACTA TATCATCACATGATGATATGATACTATATCATCACATGATGATATGATAC TATATCATCACATGATGATATGATACTATATCATCACATGATGATATGAT ACTATATCATCACATGATGATATGATACTATATCATCACATGATGATATG ATACTATATCATCACATGATGATATGATACTATATCATCACATGATGATA TGATACTATATCATCACATGATGATATGATACTATATCATCACATGATGA TATGATACTATATCATCACATGATGATATGATACTATATCATCACATGAT GATATGATACTATATCATCACATGATGATATGATACTATATCATCACATG ATGATATGATACTATATCATCACATGATGATATGATACTATATCATCACA TGATGATATGATACTATATCATCACATGATGATATGATACTATATCATCA CATGATGATATGATACTATATCATCACATGATGATATGATACTATATCAT CACATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0081 a0001c0002t0039g0081	1	174	0.0058	857	c.41- others(874): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCACATGATGATATGATACTATATCATC ACATGATGATATGATACTATATCATCACATGATGATATGATACTATATCA TCACATGATGATATGATACTATATCATCACATGATGATATGATACTATAT CATCACATGATGATATGATACTATATCATCACATGATGATATGATACTAT ATCATCACATGATGATATGATACTATATCATCACATGATGATATGATACT ATATCATCACATGATGATATGATACTATATCATCACATGATGATATGATA CTATATCATCACATGATGATATGATACTATATCATCACATGATGATATGA TACTATATCATCACATGATGATATGATACTATATCATCACATGATGATAT GATACTATATCATCACATGATGATATGATACTATATCATCACATGATGAT ATGATACTATATCATCACATGATGATATGATACTATATCATCACATGATG ATATGATACTATATCATCACATGATGATATGATACTATATCATCACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAACATGATGATATGATACTATATCATCATATAACATGATGATATG ATACTATATCATCATATAACATGATGATATGATACTATATCATCATATAA CATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ABR_chr17_998519_1184981	1173156	C C	CCCCATCA others(851): Show CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACAT CACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTC AGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCA CCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACA CATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACATCAC CTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCC CCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACA TCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCT CAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCC ACCCCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACATCACCT CAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATC ACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0109 a0001c0002t0011g0109	1	337	0.0030	858	c.61+ others(873): Show c.61+6510_61+6511insTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGG GGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACT GAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGGGTGGACTGAGGTGATGTGTTGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGA GGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGGGGGGGTGGACTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1464277	A A	ACACACGC others(851): Show ACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGAGGGT GGACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGCGGGCAGTG CGCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCA GTCACAGCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCAC ACACGCGCGGGGGCCAGTCACAGCGGGCAGTGCACCGGAGAAGAGGGTGG ACACACACTCCCCCACACACGTGCTGGGGACAGTCACAGCGGGCAGCGCG CTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCGGGGGGCAGT CACAGTGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCACAC ACGCGCGGGGGGCAGTCACAGCAGGCAGCGCGCCGGAGAAGAGGGTGGAC ACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGTGCT GGAGAAGACGGTGGACACACACTCCCCCGCACACGCGCTGGGGGCAGTCA CAGCGGGCAGCGCGCTGGAGAAGAGGGTGGACACACACTCCCCCACACAC GCGCTGGGGGCAGTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACAC ACACTCCCCCACACACGCGCTGGGGACAGTCACAGCGGGCAGCGTGCTGG AGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCAGTCACA GCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACGC GCTGGGGGCAGTCACAGTGGGCAGCGTGCTGGAGAAGAGGGTGGACACAC ACTCCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG02258.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0061 a0002c0002t0005 a0001c0001t0061 a0002c0002t0005	a0001c0001t0061g0087 a0002c0002t0005g0028 a0001c0001t0061g0087 a0002c0002t0005g0028	2	106	0.0189	858	c.101 others(877): Show c.101-85118_101-85117insCGGGGGAGTGTGTGTCCACCCTCTTC TCCAGCACGCTGCCCACTGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTG TGTGTCCACCCTCTTCTCCAGCACGCTGCCCGCTGTGACTGCCCCCAGCG CGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCGCT GTGACTGTCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTC CGGCGCACTGCCCGCTGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTGTG TGTCCACCCTCTTCTCCAGCGCGCTGCCCGCTGTGACTGCCCCCAGCGCG TGTGCGGGGGAGTGTGTGTCCACCGTCTTCTCCAGCACGCTGCCCACTGT GACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCG GCGCGCTGCCTGCTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTG TCCACCCTCTTCTCCAGCACGCTGCCCACTGTGACTGCCCCCCGCGCGTG TGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCGCGCTGCCCGCTGTGA CTGTCCCCAGCACGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGT GCACTGCCCGCTGTGACTGGCCCCCGCGCGTGTGTGGGGGAGTGTGTGTC CACCCTCTTCTCCAGCACGCTGCCCGCTGTGACTGCCCCCAGCGCGTGTG TGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCTGTGACT GCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCAC GCTGCCCACTGTGACTGCCCCCCGCGCGTGTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AMER2_chr13_25156679_25177288	25159113	T T	TACATGTA others(851): Show TACATGTATATATTATATATTATATGTTTATATATTATATGTATATATTA TATATTATATATTATATATTATATATTATATATTATATATATTATATACA TATAATATATATTCTCATATATATTATATATACTCATATATATAATATAT ATTCTCATATATATTATATATATTCATATATATAATATATATTCTCATAT ATATATATTATATATTCTCATATATATAATATATATATTCTCATATATAA TATATATTCTCATATATATAATATATACTCATATATTATATATATACTCA TATATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATA ATATATATTCTCATATATAATATATATTCTCATATATGACATATATATAT TCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAATA TATTATATATTCTCATATATAATATATTATATGTGCTCATATATAATATA TTATATGTGCTCATATATAATATATTATATATGCTCATATATAATATATT ATATATGCTCATATATAATATATTATATATGCTCATATATAATATATTAT ATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATATTATATATGCTCA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATGTATGCTCATATATAATATATTATGTATGCTCATATATAATATA TTATGTATGCTCATATATAATATATTATGTATGAGCATATATAATATATT ATGTATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0026 a0004c0004t0026	a0004c0004t0026g0000 a0004c0004t0026g0000	1	416	0.0024	858	c.10 others(871): Show c.10490_*10491insCTCATACATAATATATTATATATGCTCATACA TAATATATTATATATGAGCATACATAATATATTATATATGAGCATACATA ATATATTATATATGAGCATACATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATGAGCATATATAATATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCACATATAATATATTATATATGAGCACATATA ATATATTATATATGAGAATATATAATATATTATATGAGAATATATATTAT ATATGAGAATATATAATATATATGAGAATATATATATGTCATATATGAGA ATATATATTATATATGAGAATATATATTATATAAATGAGAAAATATATAT TATATATTAGAATATATACATTATATATGAGTATATATATAATATATGAG TATATATTATATATATGAGAATATATATTATATATGAGAATATATATATT ATATATATGAGAATATATAATATATATATATGAGAATATATATTATATAT ATGAATATATATAATATATATGAGAATATATATTATATATATGAGTATAT ATAATATATATGAGAATATATATTATATGTATATAATATATATAATATAT AATATATAATATATAATATATAATATATAATATATACATATAATATATAA ACATATAATATATAATATATACATGT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2565		chr13	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(851): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATATATATATATATATTTAAAAT TCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCA CTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACC AGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01257.hp2 others(12): Show HG00438.hp1 HG00609.hp1 HG01257.hp2 HG02523.hp1 NA18943.hp1 NA18944.hp1 NA18964.hp1 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA18993.hp2 NA19009.hp1 NA19074.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0031 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0009g0211 a0001c0001t0009g0212	15	336	0.0446	858	c.94+ others(873): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATGTATTTTTTTTTTTTTTTTAAATATATATTCTTT TTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACC ATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTC AGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAA TTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGT TGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCG GCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGAT AAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAA TTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTT TTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTT TCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCC GCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(851): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	298	0.0034	858	c.955 others(875): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(851): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0042 a0042	a0042c0083 a0042c0083	a0042c0083t0003 a0042c0083t0003	a0042c0083t0003g0038 a0042c0083t0003g0038	1	338	0.0030	858	c.300 others(875): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(851): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	338	0.0059	858	c.300 others(875): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185581	G G	GGGTGAGT others(851): Show GGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTATGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0062 a0062	a0062c0072 a0062c0072	a0062c0072t0001 a0062c0072t0001	a0062c0072t0001g0210 a0062c0072t0001g0210	1	338	0.0030	858	c.300 others(875): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCG GGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGG CCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(851): Show GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0055 a0002c0004t0001g0055	1	288	0.0035	858	c.303 others(877): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTC CTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(851): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCCGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAG GGGGGCTGACCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGT GGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTC CCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTC CCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0098 a0001c0001t0055g0098	1	322	0.0031	858	c.165 others(875): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCA ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCA CCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCAC CTCCCTCCTGGACAGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(851): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCC CATGCTGGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	336	0.0030	858	c.248 others(875): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAA CTTCTTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGA ACATTCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGA TGAAGAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACAC CACAAAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATG ACAGATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAA AAGATTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGT GAAATACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTG AGAATGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCT AGAGTAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGA ACCTCCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTC AAATAATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAAT ATTCATGGGCAATACATCCATACTACATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTC TCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGATAGA others(851): Show TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0068 a0003c0005t0002g0068	1	236	0.0042	858	c.342 others(877): Show c.3423-4247_3423-4246insGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(851): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGGG TGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGT CCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTA CGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCT GAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACG GCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTC CCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGG GTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCG TCCCCGTGC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0328 a0001c0001t0012g0328	1	400	0.0025	858	c.172 others(875): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC ACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG GGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CLCN5_chrX_49917596_50104230	50057375	G G	GTCCTGGA others(851): Show GTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTAT CCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACT ATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATA CTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGA TACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATA GATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGA TAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTG GATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCC TGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCT CCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACT CTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTAT CCAGGACTC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	175	0.0057	858	c.164 others(877): Show c.164-12182_164-12181insATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCT GGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTC CTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTC TCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGAC TCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGG ACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCA GGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATC CAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTA TCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATAC TATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGAT ACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCT GGATAGATACTATCCAGGACTCTCCTGGATAG	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(851): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGATGCAGTTTAT AGATGATATGGGGGTGGGGACATGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTA GCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATAT GGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGG GTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAG ATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGG CGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTG CAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAAT ATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGT AGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19240.hp1 HG03017.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0059 a0001c0003 a0003c0059	a0001c0003t0015 a0003c0059t0040 a0001c0003t0015 a0003c0059t0040	a0001c0003t0015g0188 a0003c0059t0040g0192 a0001c0003t0015g0188 a0003c0059t0040g0192	2	272	0.0074	858	c.109 others(877): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GATGCAGTTTATAGATGATATGGGGGTGGGGACATGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTT TATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGA GGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAG TGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGA TAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCG GGGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAG TTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATA TGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(851): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGC AGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTA GCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATAT GGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGG GTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAG ATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGG CGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTG CAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAAT ATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGT AGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG03453.hp1 HG02258.hp1 HG02622.hp2 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0005t0053 a0001c0009t0001 a0001c0005t0001 a0001c0005t0053 a0001c0009t0001	a0001c0005t0001g0107 a0001c0005t0053g0105 a0001c0009t0001g0106 a0001c0005t0001g0107 a0001c0005t0053g0105 a0001c0009t0001g0106	3	272	0.0110	858	c.109 others(877): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTT TATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGA GGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAG TGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGA TAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCG GGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAG TTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATA TGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(851): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACATGCTATGTACATCATATAGTATGTATACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTA TACTACATG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	448	0.0022	858	c.51+ others(873): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTATACATACT ATATGATGTACATAGCATGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATG TAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(851): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACATGCTATGTACATCATATAGTATGA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTA TACTACATG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	448	0.0022	858	c.51+ others(873): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTCATACTATATGATGTACATA GCATGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATG TAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(851): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACATGCTATGTACATCATATAGTATGTATACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTA TACTACATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	448	0.0022	858	c.51+ others(873): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTATACA TACTATATGATGTACATAGCATGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATG TAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(851): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCACCACCACCATCACCACTATAACCACCACTACCACCACCACCATTA TAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC CACCACTATAACCACCATCATCATCACCACCACTACCACTACTATAACCA TCACCACCATCACTGCTATAACCACCACCACCACCACTATAACCACCACC ACCACCACCACCACCACTATAATCATTACCACTATAACCACCACTACCAC CACTACCACTATGATAACCATCACCAACACCACTATAACCACCATCATCA TCACCACCACTACCACTACTATAACCATTACCACCATCACTGCTATAACC ACCACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTAC CACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCA CTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTAT AACCACCATCATCATCACCACCACTACCACTACTATAACCATTACCACCA TCACTGCTATAACCACCACCACCACCACTATAACCATCACCACCATCACC ACTATAACCACCACTACCACCACCACCATTATAACCATCACCACCACCGC TATAACCACCATCATCATCACCACCACTACCACTACTGTAACCATCACCA CCATCACTG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0162 a0001c0009t0003g0162	1	230	0.0044	858	c.724 others(877): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGCGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTATA GTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGTTGGTGAT GGTTATCATAGTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTA TAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTT ATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGAT GATGGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGATGG TGGTAATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATA GTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAGTGGTGGTTAT AGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGG TGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTA GTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGT TATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGA TGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTA GTGGTGGTTATAGTGGTGATGGTGGTGGTGGTTATAGTGGTGGTGGTGGT GGTTATAGCAGTGGTGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(851): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCTCACCCCCACCCCCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCGCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCTCACCCGC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	320	0.0031	858	c.39 others(869): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGAGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
FBXL14_chr12_1560993_1599581	1574360	A A	AGGAGGCT others(851): Show AGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGAGAGGAGGCTG GCGGCAGCACTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCGGCAGCA CTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTG GAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGT GTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAG GCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTG AGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAG GCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGG TGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGG AGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGG CAGCGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGT GGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGG CTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGG GGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTAGGGGAGGCTG GCGGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCA GCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGG ATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGTGGAGGCT GGGGTGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0365 a0001c0001t0005g0365	1	418	0.0024	858	c.119 others(877): Show c.1195-7551_1195-7550insCCTCACCCCAGCCTCCACCCACACCG CTGCTGCCAGCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCTGCCA GCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCT CACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCA GCCTCCATCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACC CACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCCACCAGC CTCCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCA CCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTC CACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCAC ACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCTG CTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCACCC ACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCATCCACACCGCTG CCACCAGCCTCCCCCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCT CCTCTCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACGGCTGCCA CCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCC CCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCCTCTCACCCC AGCCTCCACCCACACCGCTGCCACCAGCCTCC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1574451	T T	TGGCAGCA others(851): Show TGGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCGGT GTGGATGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGC AGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGT GTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGC AGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCG GTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTG GAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGGGTGGAGGCTGGGG TGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAG GCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTG GATGGAGGCTGGGGTAGGGGAGGCTGGCGGCAGCAGCGGTGTGGGCGGAG GCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTG AGGGGAGGCTGGCGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGC TGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CGGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTG GGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCT GGGGTGAGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGG GAGGCTGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	418	0.0024	858	c.119 others(877): Show c.1195-7642_1195-7641insGCCAGCCTCCCCCACCCCAGCCTCCA TCCACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACACCG CTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCTGCCGC CAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCC TCACCCCAGCCTCCACCCACACCGCTGCTGCCAGCCTCCCCTCACCCCAG CCTCCATCCACACCGCTGCCGCCAGCCTCCCCTCACCCCAGCCTCCATCC ACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCGCCCACACCGCTG CTGCCGCCAGCCTCCCCTACCCCAGCCTCCATCCACACCGCTGCCACCAG CCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCCC ACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCC TCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCAC ACCACTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCCA CCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCC TCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCT CCTCTCACCCCAGCCTCCATCCACACCGCTGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCGCCAGCCT CCCCCACCCCAGCCTCCATCCACACTGCTGCC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(851): Show GAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGG GAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGG GGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGAGAGG GGAAGGGGAGGGGAGAGGAGGGGGGAGGGGAAGAAGGGGAGGAGAGGGGA GGGGAGGAGAGGGGAGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGAG GGGAGGAGGGGTGGGGGGAGGGTGGAAGGGGAGGGGAGGGGGAGGAGGGG AGGGGAGGGGAGGGGAGCAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGA GGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGG AGGGGGAGGAGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGG AAGGGAGGGGGAGGAGGGGGGAGTAGGGGAGGGGAGGGGGAGGAGGGGGG AGGAGGAGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGGA GGAGGGGAGGGGAGGGGAGGAGGGGGGGAGGAGGGGGAGGAGGGGAGGGG AGGGGGAGGAGGGGAGGAGAGGGGGAGGAGGGGGGAGGAGGGGGGAGGGG GGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGG GAGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGG AGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAG GGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	46	0.0217	858	c.-17 others(877): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC CTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCTCCTCCTCCCCC TCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCC CCCCTCCTCCCCCTCTCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCC CTCCTCCCCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCCTCCTCCCCCCT CCTCCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCCCCCCTCCTCCCCCTC CCCTCCCCTACTCCCCCCTCCTCCCCCTCCCTTCCCCCCTCCCCTCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCTCCCCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCT CCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTCCTCCC CCTCCCCTCCTCCCTGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCC CTCCCCTTCCACCCTCCCCCCACCCCTCCTCCCCTCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTT CTTCCCCTCCCCCCTCCTCTCCCCTCCCCTTCCCCTCTCCTCCTCCCCTC CCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCT CCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT TCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FOXN3_chr14_89151177_89422233	89361016	C C	CACCACCA others(851): Show CACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCA CCACCACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACC TCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCAC CTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGC ACCACCTCCACCACCACCACCACCACTACCACCTCCAGCACCACCTCCAC CACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCACCACCT CCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACC TCCACCACTACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCA CTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACCACCACCACCACCACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCAC CACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACTACCACCT CCAGCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACC TCCACCACT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0198 a0001c0001t0026g0198	1	230	0.0044	858	c.544 others(877): Show c.544-10209_544-10208insAGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAG GTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGA GGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGC TGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTG GTGGTGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGT GGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGG TGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTG GAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTAGT GGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGTG GTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGA GGTGGTAGTGGTGGTGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGG TGGAGGTAGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTG GTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGT GCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGG TGGTGGTGGAGGTAGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAG GTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GTPBP4_chr10_983434_1024932	1010037	A A	ATTGTTTC others(851): Show ATTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCC ACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGA TGGTGGGGTGATTTTTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGC TGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCT TTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTT TTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAA TGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCT GTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCT GTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGT GTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTG ATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTG TTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGT GTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGT GGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGAT GTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCT CCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGG GATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAG GCTGATGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 NA20129.hp2 HG02647.hp1 HG02723.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0019 a0001c0002t0003g0078 a0001c0002t0003g0019 a0001c0002t0003g0078	3	370	0.0081	858	c.124 others(875): Show c.1244-270_1244-269insTTGTAGCTTTCTCCACGTGTGGGTGTTG AATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTT CTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTC CTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGG GTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGG TGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGT TGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCAC GTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATG GTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTG ATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTT CTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTT GGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATG AGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGT AGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGT TGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGT TGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGATGGTGGGGTGAT TTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTT TCCTGTTGTTTTGGGATGGTGGGGTGATTT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(851): Show TCTACCACCTCTACCACCACCACCACCACTACCACCTCTACCACCACCAT CATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACTA CCACCACCACCACCACCACCACCACCACTACCACCACTACCACCTCTACC ACCACCATCACCACCACCACCACTACCACCTCTACCACCACCATCACCAC CACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCACCA CCTCTACCACCTCTACCACCACTACCACCTCTACCACCTCTACCACCACT ACCACCTCTACCACCTCTACCACCACTACCACCTCTACCACCTCTACCAC CACCATCATCACCACCACGACCACCACTACCACCTCTACCACCACCATCA CCACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCACT ATCACCACCTCTACCACCACCATCACCACCACCACCACCACCTCTACCAC CACCATCACTACTACCACCACCACCATCACCACCTCTACCACCATCGCTA CCATCACCACCACCACCACTATCACCGCCACCACCATCGCTACCATCACC ACCACCACTACCACCACCACCACCACCAATACCACTACCACCACCATCAC TACCACCACCACCACCATCACCACCTCTACCATCGCTACCATCACCACCA CCACCACTACCATCATCACCACTACCACCATCACCACCTCTACCACCACC ATCACCACCACCACTATCACCACCTCTACCACCACCATCACCACCACCAC CACCACCACCTCTACCACCACCATCACTACTACCACCACCACCACCTCTA CCACCATCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp2 HG02145.hp1 HG03579.hp2	a0003 a0027 a0003 a0027	a0003c0006 a0027c0026 a0003c0006 a0027c0026	a0003c0006t0030 a0027c0026t0054 a0003c0006t0030 a0027c0026t0054	a0003c0006t0030g0045 a0027c0026t0054g0076 a0003c0006t0030g0045 a0027c0026t0054g0076	2	134	0.0149	858	c.520 others(879): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGT GGTGATGGTGGTAGTGGTGATGATGGTAGTGGTGGTGGTGGTGATGGTAG CGATGGTAGAGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTA GTGGTATTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTAGCGAT GGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGTAG AGGTGGTGATGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTG GTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG AGGTGGTAGTGGTGGTCGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTA GAGGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTAGAGGT GGTAGAGGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGT GGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGA TGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAG GTGGTAGTGGTGGTGGTGGTGGTAGAGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTTTT others(851): Show TTTTTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0104	1	394	0.0025	858	c.41- others(873): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322171	G G	GGAATATA others(851): Show GGAATATATACATGGAATATATATATGGAATATATATATCTGGAATATAT ATATGGAATATATATATATGGAACATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATGCAATATATATA TATGGAATATATATATGCAGTATATATATATGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATATGTGGAATATATATA TGGAATATATATATATGTGGAATATATATATGGAATATATATATGGAATA TATATATATGGAATATATATATGGAATATATACATGGAATATATGTATAT GGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATATGT GTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGA ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATAGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATACATGGAATATATACATGGAACATATACAT GGAACATATACATGGAATATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0195	1	323	0.0031	858	c.-28 others(869): Show c.-2885_-2884insGAATATATACATGGAATATATATATGGAATATAT ATATCTGGAATATATATATGGAATATATATATATGGAACATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATGCAATATATATATATGGAATATATATATGCAGTATATATATATGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATA TGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATAT ATACATGGAATATGTGTATATGGAATATATACATGGAATATATGTATATG GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATAGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATATGGAATATATACATGGAATATATACATGGAATATATAC ATGGAACATATACATGGAACATATACATGGAATATATATATATGGAACAT ATACGGAATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATATATATGGAATATATATACGGAATATATATATATG GAATATATATACGGAATATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2798		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322915	A A	ATATATGG others(851): Show ATATATGGAATATATACGGAATATATATATAATATATATGGAATATATAT ATACGGAATATATATAATATATATACGGAATATATATATACGGAATATAT ATAATATATATACGGAATATATATATAATATATATATAATATATATACGG AATATATATATAATATATAAATGGAATATATATACGGAATATATATATAA TATATAAATGGAATATATATATACGGAATATATATATAATATATAAATGG AATATATATATACGGAATATATATATAATATATATATGGAATATATATAT ACGGAATATATATATAATATATATATGGAATATATATATACGGAATATAT ATATAATATATATATGGAATATATATATACGGAATATATATATTATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATACGGAATATATATATATGGATATATATACGGAATATATATATATGGAA TATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGT ATATATGGAATATATATATATGGAATGTGTATATATGGAATATATATATG GAATGTGTATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	323	0.0031	858	c.-21 others(869): Show c.-2141_-2140insTATATGGAATATATACGGAATATATATATAATAT ATATGGAATATATATATACGGAATATATATAATATATATACGGAATATAT ATATACGGAATATATATAATATATATACGGAATATATATATAATATATAT ATAATATATATACGGAATATATATATAATATATAAATGGAATATATATAC GGAATATATATATAATATATAAATGGAATATATATATACGGAATATATAT ATAATATATAAATGGAATATATATATACGGAATATATATATAATATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATATACGGAATATATATATAATATATATATGGAATATATATATACGGAAT ATATATATTATATATATGGAATATATATATACGGAATATATATATAATAT ATATATGGAATATATATACGGAATATATATATATGGATATATATACGGAA TATATATATATGGAATATATATATATGGAATGTGTATATATGGAATATAT ATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATA TGGAATATATATATGGAATGTGTATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATATGGAATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2054		chr21	TogoVar
JUND_chr19_18274694_18286622	18284518	A A	AAAAATAA others(851): Show AAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAGA CCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATC CAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACA TGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTG GCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGC TTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCAC TGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAA TAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTT TGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGC TTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCC AGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCA GAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGC GCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGC AACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACT AAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTT GCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAA ACTCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01515.hp1 HG01516.hp1 HG00741.hp1 HG01515.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0000 a0001c0001t0029g0000 a0001c0001t0002g0000 a0001c0001t0029g0000	3	408	0.0074	858	c.-30 others(869): Show c.-3035_-3034insAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAGTG CAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAACCG ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCAC CATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGGG ATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGGA GACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCAG GTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAGAGC CACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACGGA TTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTCAC TGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGAAT TTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTC CTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTATAG GAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATTAT TATTATTATTATTATTATTATTTT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2897		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(851): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGG CCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCAAAG CGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTG AAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAA TGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAG CCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAG CCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATA ATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTGGGA GGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGC CAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTG TGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGA ATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCAG AGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAA TACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGT GAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCT GCCTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	408	0.0025	858	c.-30 others(869): Show c.-3037_-3036insATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTG GAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTC AACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGC GCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATG GCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAG CTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTA GTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGAC CTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCG AGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAG ACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGG CTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCC TCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTT TGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTG ATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGAT TATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATT ATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(851): Show AAATAATAATAATAATGATAATAATAATAATAATAATAATAAAGACCTGG CCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAG CGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTG AAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAA TGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAG CCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAG CCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATA ATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTGGGA GGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGC CAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTG TGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGA ATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCAG AGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAA TACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGT GAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCT GCCTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	2	408	0.0049	858	c.-30 others(869): Show c.-3037_-3036insATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTG GAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTC AACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGC GCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATG GCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAG CTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTA GTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGAC CTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCG AGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAG ACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGG CTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCC TCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTT TGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTG ATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGGAT TATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATT ATTATTATCATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(851): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTC TCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	370	0.0027	858	c.-27 others(869): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(851): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGATGGTGGGGGTGATGACGATGATGGTGGGGGTGATGACGGTGATGG CGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTG ATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGG GGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGG GGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAA TGACGGTGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0127 a0001c0005t0001g0127	1	186	0.0054	858	c.956 others(875): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCC CACCATCATCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCCCCACCATCATCACCCTCACCATCATCACCCCCACC CCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCATCA CCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCCACCATCA TCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(851): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATCCATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18954.hp1 NA18944.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0259 a0002c0002t0002g0260	2	284	0.0070	858	c.126 others(875): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT GGATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(851): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATATCCATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATCCATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0261	1	284	0.0035	858	c.126 others(875): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT GGATATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124507256	G G	GGGGGGTA others(851): Show GGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGTTGG GGGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGG TAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGT ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGAT TTCAGGTGT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	260	0.0039	858	c.624 others(875): Show c.624+9133_624+9134insTAGGCAGGATTTCAGGTCGGGGGGGTAG ACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGAC AGGATTTCAGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTT CAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAG GTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGG TGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG TGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGG GGGGGGTAGGGAGGATTTCAGGTGTGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(851): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCC CCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCC CTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCT CTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCC CTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCC TCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCC TCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCC TCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCC CTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCC CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCC CCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0123 a0001c0001t0012g0123	1	276	0.0036	858	c.100 others(877): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCC CTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCC TCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTC TTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCC CTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCC CCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCC CCCATTCCCCTCCCTCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCC CTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCC TCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACC CCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCT CCCCCACCCCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar

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