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 limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1130): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00639.hp2 others(26): Show HG00323.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01169.hp2 HG01516.hp2 HG02258.hp2 HG02293.hp2 HG02523.hp2 HG03098.hp1 HG04184.hp1 HG04199.hp2 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18955.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18994.hp1 NA19002.hp2 NA19062.hp1 NA19079.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1	a0002 a0006 a0009 others(4): Show a0002 a0006 a0009 a0011 a0012 a0015 a0035	a0002c0003 a0006c0007 a0009c0018 others(6): Show a0002c0003 a0006c0007 a0009c0018 a0009c0020 a0011c0025 a0012c0013 a0012c0080 a0015c0040 a0035c0104	a0002c0003t0003 a0006c0007t0001 a0009c0018t0001 others(8): Show a0002c0003t0003 a0006c0007t0001 a0009c0018t0001 a0009c0018t0004 a0009c0020t0001 a0011c0025t0003 a0012c0013t0001 a0012c0013t0002 a0012c0080t0001 a0015c0040t0002 a0035c0104t0001	a0002c0003t0003g0001 a0002c0003t0003g0014 a0002c0003t0003g0018 others(26): Show a0002c0003t0003g0001 a0002c0003t0003g0014 a0002c0003t0003g0018 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0039 a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0048 a0006c0007t0001g0163 a0006c0007t0001g0170 a0006c0007t0001g0178 a0006c0007t0001g0179 a0006c0007t0001g0308 a0009c0018t0001g0173 a0009c0018t0001g0177 a0009c0018t0004g0164 a0009c0020t0001g0176 a0011c0025t0003g0017 a0012c0013t0001g0099 a0012c0013t0001g0251 a0012c0013t0002g0113 a0012c0080t0001g0104 a0015c0040t0002g0168 a0035c0104t0001g0174	29	360	0.0806	1137	c.170 others(1158): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1130): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGTGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0041 a0002c0003t0003g0041	1	360	0.0028	1137	c.170 others(1158): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGTGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20669003	C C	CGCCCCAT others(1130): Show CGCCCCATCCGGGAGGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCTATCCGGGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGCGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTCGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGAGGGG GGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19012.hp2 NA19067.hp2 others(1): Show HG02155.hp2 NA19012.hp2 NA19067.hp2 NA19086.hp2	a0002 a0021 a0037 a0002 a0021 a0037	a0002c0014 a0021c0033 a0037c0102 a0002c0014 a0021c0033 a0037c0102	a0002c0014t0001 a0002c0014t0003 a0021c0033t0003 others(1): Show a0002c0014t0001 a0002c0014t0003 a0021c0033t0003 a0037c0102t0023	a0002c0014t0001g0234 a0002c0014t0003g0002 a0021c0033t0003g0037 others(1): Show a0002c0014t0001g0234 a0002c0014t0003g0002 a0021c0033t0003g0037 a0037c0102t0023g0043	4	360	0.0111	1137	c.170 others(1158): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCC CGGCCAGCAGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(1130): Show TACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGTGAGGGGAGGTGGTCATACTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGG GAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCAC ACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGTGAGGGGAGGTGGTCATACTGAGGGGAGGTGGTCACA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTG TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACA TTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	236	0.0042	1137	c.351 others(1156): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACACTGTGAG GGGAGGTGGTCATACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGG AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGG GGAGGTGGTCATACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCA CACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(1130): Show CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGAGGCAGGAAGGGAAGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGAGGGGGAAGGCAGGAAGGGAAGGGGGA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	344	0.0029	1137	c.85- others(1154): Show c.85-12935_85-12934insTCCCCCTTCCCTTCCTGCCTTCCCCCTC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCTTCCCTTCCTGCCTCTGCCTTCCCCCTC CCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCT CCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CTU2_chr16_88701503_88720396	88713210	T T	TGAGAGCC others(1130): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCAGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0170 a0002c0003t0001g0170	1	418	0.0024	1137	c.738 others(1150): Show c.738-65_738-64insGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCAT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88713210	T T	TGAGAGCC others(1130): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCAGGCCCTGACCC CCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0055 a0002c0003t0001g0055	1	418	0.0024	1137	c.738 others(1150): Show c.738-65_738-64insGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATGCCCCCGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCAT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88713210	T T	TGAGAGCC others(1130): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00642.hp1 others(24): Show HG00323.hp2 HG00544.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01255.hp1 HG01257.hp2 HG01517.hp2 HG02132.hp1 HG02273.hp1 HG02523.hp1 HG02698.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18995.hp1	a0002 a0009 a0002 a0009	a0002c0003 a0002c0016 a0009c0011 a0002c0003 a0002c0016 a0009c0011	a0002c0003t0001 a0002c0003t0004 a0002c0016t0001 others(1): Show a0002c0003t0001 a0002c0003t0004 a0002c0016t0001 a0009c0011t0001	a0002c0003t0001g0003 a0002c0003t0001g0025 a0002c0003t0001g0027 others(7): Show a0002c0003t0001g0003 a0002c0003t0001g0025 a0002c0003t0001g0027 a0002c0003t0001g0044 a0002c0003t0001g0061 a0002c0003t0001g0066 a0002c0003t0001g0172 a0002c0003t0004g0067 a0002c0016t0001g0026 a0009c0011t0001g0003	27	418	0.0646	1137	c.738 others(1150): Show c.738-65_738-64insGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCAT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88713210	T T	TGAGAGCC others(1130): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC CTGAGAGCCCCCCTTCCCTGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0057 a0002c0003t0001g0057	1	418	0.0024	1137	c.738 others(1150): Show c.738-65_738-64insGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCTG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCAT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	316301	G G	GACACACA others(1130): Show GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC ACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACA CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACAC ATACATACGCAGACACACACACACACAAACACACACACAGTAAATACATC CCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGCAT CCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACAGACA CAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACACACAC ACACACAGACACACACAGTAAACACATCCCAATGGACACAAACACACACA TGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACACGC AGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA TGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAGAC ATACACACACACACACACACACGCAGACACACAGAGACACACACACACAG TAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACA CACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAG ACATGCGCAGACACACAGACACACACAGAGAGACACACACACACAGAGAC ACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAAACACATC CCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACA GTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGAC ACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCA GACACACAGACACACACACACACAGACACACACAGTAACACATCCCAACA GGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACACACAC ACAGACACAAACACAGCGTAACACATCCCGACAGGGAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	155	0.0065	1137	c.487 others(1152): Show c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC CCTGTCGGGATGTATTTACTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGC GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC CGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTG TGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316301	G G	GACACACA others(1130): Show GACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT CCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGA GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC ATACGCAGACACACACACACACAAACACACACACACACAGTAAATACATC CCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGCAT CCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACAGACA CAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACACACAC ACACACAGACACACACAGTAAACACATCCCAATGGACACAAACACACACA TGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACACGC AGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA TGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAGAC ATACACACACACACACACACACGCAGACACACAGAGACACACACACACAG TAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACA CACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAG ACATGCGCAGACACACAGACACACACAGAGAGACACACACACACAGAGAC ACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAAACACATC CCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACA GTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGAC ACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCA GACACACAGACACACACACACACAGACACACACAGTAACACATCCCAACA GGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACACACAC ACAGACACAAACACAGCGTAACACATCCCGACAGGGAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0073 a0002c0034t0003g0073	1	155	0.0065	1137	c.487 others(1152): Show c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT GTTTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG TGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
ITGBL1_chr13_101447675_101721446	101570832	T T	TAGGCGTG others(1130): Show TAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACA AAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCAC AGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGA AAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTAC AATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAA GTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAG CCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATG CAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAAT CATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAG GAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGG AAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	306	0.0033	1137	c.463 others(1154): Show c.463+2988_463+2989insGGCGTGGGCAAGGACTTCATGTCCAAAA CACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATT AAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAG GCAACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAG GGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAA ACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTC AAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCAT CACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTC ACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTG GAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTA AACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTA GAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCC AAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTA TTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCA ACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATA CTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGA TGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACC AAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACA TGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGG GGAGGGGGGAGGGATAGCATTGGGAGATATACTAATGCTAGATGACACAT TAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACC TGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO1_chr16_88710338_88790220	88713210	T T	TGAGAGCC others(1130): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCAGGCCCTGACCC CCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0048 a0005c0015t0001g0048	1	282	0.0036	1137	c.23 others(1148): Show c.2394_*2395insGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAG GGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGCTCTCAGGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGG TATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAG GGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGCTCTCGGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG GGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGGGCATGA GTGGGGGTCAGGGCCTGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCT CTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2127		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88713210	T T	TGAGAGCC others(1130): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00642.hp1 others(18): Show HG00323.hp2 HG00544.hp2 HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01515.hp1 HG01515.hp2 HG02132.hp2 HG02273.hp2 HG02698.hp2 HG03492.hp1 HG03540.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18995.hp1	a0004 a0005 a0013 others(5): Show a0004 a0005 a0013 a0027 a0049 a0055 a0079 a0080	a0004c0004 a0004c0020 a0004c0053 others(10): Show a0004c0004 a0004c0020 a0004c0053 a0005c0015 a0005c0068 a0005c0118 a0005c0120 a0013c0012 a0027c0092 a0049c0143 a0055c0050 a0079c0055 a0080c0054	a0004c0004t0001 a0004c0020t0001 a0004c0020t0003 others(11): Show a0004c0004t0001 a0004c0020t0001 a0004c0020t0003 a0004c0053t0001 a0005c0015t0001 a0005c0068t0001 a0005c0118t0001 a0005c0120t0001 a0013c0012t0001 a0027c0092t0001 a0049c0143t0001 a0055c0050t0001 a0079c0055t0001 a0080c0054t0017	a0004c0004t0001g0049 a0004c0004t0001g0068 a0004c0004t0001g0071 others(18): Show a0004c0004t0001g0049 a0004c0004t0001g0068 a0004c0004t0001g0071 a0004c0004t0001g0074 a0004c0004t0001g0084 a0004c0020t0001g0175 a0004c0020t0001g0189 a0004c0020t0003g0006 a0004c0053t0001g0096 a0005c0015t0001g0069 a0005c0068t0001g0088 a0005c0118t0001g0197 a0005c0120t0001g0196 a0013c0012t0001g0129 a0013c0012t0001g0231 a0013c0012t0001g0232 a0027c0092t0001g0207 a0049c0143t0001g0246 a0055c0050t0001g0053 a0079c0055t0001g0070 a0080c0054t0017g0033	21	282	0.0745	1137	c.23 others(1148): Show c.2394_*2395insGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAG GGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGCTCTCAGGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGG TATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAG GGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGCTCTCGGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG GGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGGGCATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCT CTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2127		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88713210	T T	TGAGAGCC others(1130): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC CTGAGAGCCCCCCTTCCCTGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0087 a0005c0015t0001g0087	1	282	0.0036	1137	c.23 others(1148): Show c.2394_*2395insGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAG GGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGCTCTCAGGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCAGGGAAGGGGGGCTC TCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGG TATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAG GGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGCTCTCGGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG GGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGGGCATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCT CTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2127		chr16	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(1130): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATTCCATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATTCCATATATATTCCATATATATATTC CATATATATATTCCATATATATATATATTCCATATATATATTCCATATAT ATATTCCATATATATATATATTCCATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0245 a0002c0002t0003g0245	1	324	0.0031	1137	c.115 others(1154): Show c.115-2706_115-2705insATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATATATGGAA TATATATATGGAATATATATATGGAATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(1130): Show CATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATTCCATATATATATATATATTCCATATATATATTCCATATATATAT ATATTCCATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATTCCATATATAT ATTCCATATATATATTCCATATATATATATATTCCATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	324	0.0031	1137	c.115 others(1154): Show c.115-2706_115-2705insATATATATATGGAATATATATATATATG GAATATATATATGGAATATATATATGGAATATATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATGGAATATATATATATATGGAATATATATATGGAATATATATATATAT ATGGAATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SIL1_chr5_138941724_139203368	139037106	T T	TAAAATTC others(1130): Show TAAAATTCTGTGTGGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAAC AGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCATTGTGGAATAGAA AGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCT GTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAG AAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAAC CCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTA AGGGCAGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGC TCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAA CACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTG TTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTG CCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAA ATTTAAAAAAAAAAAAAAAAAGAAAAAAAAGAATGGACTTTCCCAGGCCA GCTGTGGTGGCTCACGACTGTAATCCCAGCACTGTGGCAGGCCAAGGTGG GCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACACGGAGA AACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTGGGCGTGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGCACCATTGCACTCCAG CCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAAAAAAAAAAAAGGACT TTCTCAAAGAAAATGTATTTAAATGTCTGCACCAATAATTCCAGCATGTG TATGAATAAATATGATATGTCCTTTACAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	200	0.0050	1137	c.453 others(1154): Show c.453+5513_453+5514insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTAAAGGACATATCATA TTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAATACATTT TCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTGATGGAGTTTCCCTCTT GTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAACAACCTCT GCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATTTTTAGTAG AGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCA GGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACAGTCGTGAG CCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTCTTTTTTTTTTT TTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAG GGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATA AACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCC TTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGA CTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTT GCACTGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAG AGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAG AGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTT CTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACC TTTCCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTC TCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCCACA CAGAATTTT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	5/9			chr5	TogoVar
SUFU_chr10_102498972_102638535	102637435	T T	TTATATAT others(1130): Show TTATATATTATATAACTATATATTATATATAATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATTATATATTA TATAACTATATATTATATATAATATATTATATATTATATAACTATATATT ATATATAATATATTATATATTATATAACTATATATTATATATAATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTTTATATTATATAACTATATATAATATATAATATATATATT TTATATTATATAACTATATATTATATATAATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	268	0.0037	1137	c.72 others(1148): Show c.7280_*7281insTATATATTATATAACTATATATTATATATAATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATTATATATTATATAACTATATATTATATATAATATATTATATATT ATATAACTATATATTATATATAATATATTATATATTATATAACTATATAT TATATATAATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTTTATATTATATAACTATATATAATA TATAATATATATATTTTATATTATATAACTATATATTATATATAATATAT AAC	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3901		chr10	TogoVar
TECTA_chr11_121096243_121196490	121185949	T T	TTAATGAA others(1130): Show TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTA ATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGAAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCA ATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0031 a0031	a0031c0021 a0031c0021	a0031c0021t0002 a0031c0021t0002	a0031c0021t0002g0265 a0031c0021t0002g0265	1	348	0.0029	1137	c.600 others(1156): Show c.6000-1883_6000-1882insTAATGAATGAGTAGGGAAAGCAGATG TTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGC AGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAG TGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAG TAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGAAGATG TTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGAT GTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAG AAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGT AGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGT TCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAA TGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCAATG	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23			chr11	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(1130): Show CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCAGCATCACCACCATCACCACCAGCATCACCACCATCACCACCAGCA CCACCAGCATCACCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAG CATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA GCATCACCACCATCACCACCACCACCACCACCATCACCACCAGCATCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACGACCACCACCAGCATCACCACCACGACCACCACCAGCATCACCACCA CGACCACCACCAGCATCACCACCACGACCACCACCAGCATCACCACCATC ACCACCATCACCACCACCACCACCATCACTACCACCACCACCACCACCAC CACCACCACCAGCACCACCACCATCACCACCACCACCATCACCACCACCA CCACCAGCACCACCATCATCACCACCACCACCACCACCAGCACCACCATC ATCACCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCCCCACTACCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCACCACCATCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAGCAT CACCACCACCACCACCACCACCACCATCACCACCGCCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACC ACCACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCAGCATCA CCACCATCACCACCATCACCACCACCACCACCATCACT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0071 a0001c0002t0032g0071	1	80	0.0125	1137	c.497 others(1158): Show c.497-100451_497-100450insCCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCACCA GCATCACCACCATCACCACCAGCACCACCAGCATCACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCAGCATCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACC ACCACCATCACCACCAGCATCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACGACCACCACCAGCATCACCACCA CGACCACCACCAGCATCACCACCACGACCACCACCAGCATCACCACCACG ACCACCACCAGCATCACCACCATCACCACCATCACCACCACCACCACCAT CACTACCACCACCACCACCACCACCACCACCACCAGCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCAGCACCACCATCATCACCACC ACCACCACCACCAGCACCACCATCATCACCACCACCACCACCACCACCAC CACCACCAGCATCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCCCCACTACCACCACCATCACCACCACCATCACCACCACCACC ATCACCACCACCACCATCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCAGCATCACCACCACCACCACCACCACCACCA TCACCACCGCCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCAGCATCACCACCATCACCACCACCACCACCACCATCACCACCAG CATCACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCAGCATCACCACCATCACCACCATCACCACCACC ACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(1130): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATAATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATACTATAT CATCATATGATGATATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	174	0.0058	1137	c.41- others(1154): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATAATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATACTATAT CATCATATGATGATATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(1130): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTG TATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGTA TATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTG TATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTG TGTGTATGGGTGTGTATATGTGTGTATGTGTGTGTATGTGTGTGTATGTG TGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTA TGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTATG CGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTGTATATGTGTGTATG TGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATCTGTGTG TGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTGTATC TGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTATATGTGTGTATATG TGTGTGTACGTGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATG TGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTG TGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTATGCGTGTG TGTATATGCGTGTGTATATATGCGTGTGTGTATGCGTGTGTATGCGTGTG TGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTATGCG TGTGTATGGGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTA TATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTGCGTATATGCGTG TGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATATGCGTGTG TATGTGTGTATGTGTGTGTATATGATGTGAGTGTATATGCGTGTGTATAT GCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATATGTGTGTGTAT ATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGCGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0117 a0001c0002t0013g0117	1	468	0.0021	1137	c.-6- others(1152): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT GTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTAT GCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGT ATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGT GTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTATGTGTGTGTATGT GTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTAT ATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGTATAT GCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTGTAT ATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGT GTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGT GTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTATAT GTGTGTATATGTGTGTGTACGTGTGTGTGTGTATGTGTGTATGTGTGTGT ATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGT GTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGT GTATGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTGTATGCGTGT GTATGCGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGC GTGTGTATGCGTGTGTATGGGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATATGTGTGTATATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTGC GTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGT ATATGCGTGTGTATGTGTGTATGTGTGTGTATATGATGTGAGTGTATATG CGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATA TGTGTGTGTATATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGCGTGTG TGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCB5_chr7_20610667_20762008	20668924	A A	AGGAAGTG others(1131): Show AGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGT GGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02559.hp1 others(8): Show HG01255.hp2 HG02109.hp2 HG02559.hp1 HG02922.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0007 a0010 a0019 a0022 a0023 a0048 a0053	a0001c0001 a0002c0035 a0002c0041 others(8): Show a0001c0001 a0002c0035 a0002c0041 a0004c0008 a0007c0011 a0010c0026 a0019c0036 a0022c0089 a0023c0046 a0048c0078 a0053c0090	a0001c0001t0001 a0002c0035t0001 a0002c0041t0001 others(8): Show a0001c0001t0001 a0002c0035t0001 a0002c0041t0001 a0004c0008t0005 a0007c0011t0004 a0010c0026t0004 a0019c0036t0001 a0022c0089t0004 a0023c0046t0001 a0048c0078t0004 a0053c0090t0004	a0001c0001t0001g0346 a0002c0035t0001g0070 a0002c0041t0001g0119 others(8): Show a0001c0001t0001g0346 a0002c0035t0001g0070 a0002c0041t0001g0119 a0004c0008t0005g0341 a0007c0011t0004g0124 a0010c0026t0004g0126 a0019c0036t0001g0071 a0022c0089t0004g0069 a0023c0046t0001g0089 a0048c0078t0004g0342 a0053c0090t0004g0125	11	360	0.0306	1138	c.170 others(1159): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1131): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGGT GGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCATCC GGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0003 a0007c0016t0003	a0007c0016t0003g0010 a0007c0016t0003g0010	1	360	0.0028	1138	c.170 others(1159): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGGTGGGGGGG GTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGAT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG CCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCATCCGGGAGGT GAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1131): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0008 a0009c0018t0008	a0009c0018t0008g0171 a0009c0018t0008g0171	1	360	0.0028	1138	c.170 others(1159): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG GTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGAT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG CCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1131): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19006.hp1 HG02602.hp2 NA19006.hp1	a0002 a0012 a0002 a0012	a0002c0003 a0012c0013 a0002c0003 a0012c0013	a0002c0003t0003 a0012c0013t0001 a0002c0003t0003 a0012c0013t0001	a0002c0003t0003g0040 a0012c0013t0001g0110 a0002c0003t0003g0040 a0012c0013t0001g0110	2	360	0.0056	1138	c.170 others(1159): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGAT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG CCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1131): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0115 a0007c0016t0001g0115	1	360	0.0028	1138	c.170 others(1159): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1131): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG04204.hp2 NA18977.hp2 HG01175.hp2 HG04204.hp2 NA18977.hp2	a0006 a0011 a0012 a0006 a0011 a0012	a0006c0007 a0011c0017 a0012c0013 a0006c0007 a0011c0017 a0012c0013	a0006c0007t0001 a0011c0017t0007 a0012c0013t0002 a0006c0007t0001 a0011c0017t0007 a0012c0013t0002	a0006c0007t0001g0167 a0011c0017t0007g0042 a0012c0013t0002g0109 a0006c0007t0001g0167 a0011c0017t0007g0042 a0012c0013t0002g0109	3	360	0.0083	1138	c.170 others(1159): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGAGGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20669003	C C	CGCCCCAT others(1131): Show CGCCCCATCCGGGAGGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCTATCCGGGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGCGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTCGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGAGGGG GGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0007 a0011c0025t0007	a0011c0025t0007g0024 a0011c0025t0007g0024	1	360	0.0028	1138	c.170 others(1159): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGAGGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCAGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADPRHL1_chr13_113394611_113458488	113419002	T T	TCCTTCCT others(1131): Show TCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCTCTTCCCTTCCTTCTTTTCCTTCCCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCC CCTCCCCTTCCCTTCCTTCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTT TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCT TCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCT TCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCT TCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	262	0.0038	1138	c.106 others(1157): Show c.1061+3823_1061+3824insGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGG GGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGA AGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGG AAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAG GGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGA AGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGGGAAGGAAAAGAAGGAAGGGAAGAGGGAGG GGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGG GAGGGAGGAAGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(1131): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGGCAGAAAGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACA GGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAG GCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAG CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	246	0.0041	1138	c.298 others(1155): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCT TTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGC CCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACA CCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCT GTGCCCTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCT CCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(1131): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGGCAGAAAGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACA GGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAG GCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAG CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	1138	c.-22 others(1149): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGC CGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGC TGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCAC CTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCC TTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGC CCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(1131): Show ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGTGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0003 a0007c0005t0003	a0007c0005t0003g0149 a0007c0005t0003g0149	1	338	0.0030	1138	c.300 others(1155): Show c.300-9309_300-9308insCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGTGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCAT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGC ATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGC ATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCGGCA others(1131): Show GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGG CGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGC GGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGC GGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0043 a0043	a0043c0085 a0043c0085	a0043c0085t0003 a0043c0085t0003	a0043c0085t0003g0048 a0043c0085t0003g0048	1	338	0.0030	1138	c.300 others(1155): Show c.300-9106_300-9105insTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCA TAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCAT GCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGT CGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGCATG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(1131): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCA CTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAA TCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTT CCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCC ACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTG TATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCC CCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGT GGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGAC ATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTT GCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTG CCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACA GCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAA GTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTTG ACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGAT TTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTT GTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCAC ACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	324	0.0031	1138	c.127 others(1157): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTA AGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTG GACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGA TTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTT GTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCAC ACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCT GTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCA CTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAA TCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTT CCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCC ACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTG TATGGATTTGCCCACTCTTGACATTTCCTGTAAGTGGAATCACACAGCCC CACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTG GAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACA TTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTG CCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGC CTGTATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CTU2_chr16_88701503_88720396	88713210	T T	TGAGAGCC others(1131): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCCGGGCCCTGACCCCCACTCATACCCG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0056 a0002c0024t0001g0056	1	418	0.0024	1138	c.738 others(1151): Show c.738-65_738-64insGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTT CCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCAT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAH10_chr12_123757301_123940714	123911541	C C	CTGTCCTG others(1131): Show CTGTCCTGGGGGGTCTGTCCTGGGGGGACTGTCCTGGGGGGTCTGTCCCA GGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGA CTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTC CTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGG GGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGT CTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT CCCGGGGGGGTCTGTCCCGGGGGGACTGTCCCGGGGGGACTGTCCTGGGG GGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGGTCTGTCCCCGGGGATCTGTCCTTGGGGGACTGTCC TGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGG GGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTC TGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTC CTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGG GGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGG TCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTC CTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGGG GAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGT CTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCC TGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAG GGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATC TGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGGTCTGTCC TGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0033 a0033	a0033c0063 a0033c0063	a0033c0063t0001 a0033c0063t0001	a0033c0063t0001g0170 a0033c0063t0001g0170	1	170	0.0059	1138	c.101 others(1157): Show c.10134+878_10134+879insGGGTCTGTCCTGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCCGGGG GGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTC TGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCCGGGGATCTGTCC TTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGG GGGTCTGTCCTGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGATCT GTCCTGGGGAGGTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTT GGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGG GGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCT GTCCTGGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTC CTGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGA GGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCT GGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCTGGG GGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCT GTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCC CAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGG GTTTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1131): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGGGGGAGGAGGAGGAGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGA GGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGG GGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGG AGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGG AGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAG GAGGAGGGAGGAGGAGGAGGAGGAGGACGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGG AGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGGGG AGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0204 a0007c0004t0001g0204	1	252	0.0040	1138	c.118 others(1157): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CTCCTCCTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCC TCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCGTCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCC TCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCT CCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCC TCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCC TCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCC TCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCCTCCTC CTCCTCCCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1131): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATATAATATATTATATAA TATATAATATAATATATAATATAATATATAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATGTAATATATAATATAT AATATAATATATAATATATAATATATAATATATAATATAATATATAATAT ATAATATGTAATATAATATATAATATATAATATATAATATAATATATAAT ATACAATACATAATATATAATGTATAATATAATATATAATATAATATAAA ATATATAATATATAATATATAATATTATATATTTTATATATGCATTTCTT CTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGG TAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTA CTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCA CATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAG TTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACAC TCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGT TTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAA ATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTC ATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTT GCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGT GGCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGG GTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATA TTATTTTATATGTGATATATATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0049	1	366	0.0027	1138	c.-36 others(1149): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA TAATATATTATATAATATATAATATAATATATAATATAATATATAATATA TAATATATAATATAATATATAATATATAATATATAATATAATATATAATG TAATATATAATATATAATATAATATATAATATATAATATATAATATATAA TATAATATATAATATATAATATGTAATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1131): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATATAATATATTATATAA TATATAATATAATATATAATATAATATATAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATGTAATATATAATATAT AATATAATATATAATATATAATATATAATATATAATATAATATATAATAT ATAATATGTAATATAATATATAATATATAATATATAATATAATATATAAT ATACAATACATAATATATAATGTATAATATAATATATAATATAATATAAA ATATATAATATATAATATATAATATTATATATTTTATATATGCATTTCTT CTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGG TAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTA CTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCA CATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAG TTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACAC TCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGT TTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAA ATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTC ATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTT GCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGT GGCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGG GTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATA TTATTTTATATGTGATATATATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0029 a0003c0003t0004g0029	1	348	0.0029	1138	c.87 others(1147): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATAAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATATA ATATATTATATAATATATAATATAATATATAATATAATATATAATATATA ATATATAATATAATATATAATATATAATATATAATATAATATATAATGTA ATATATAATATATAATATAATATATAATATATAATATATAATATATAATA TAATATATAATATATAATATGTAATATAATATATAATATATAATATATAA TATAATATATAATATACAATACATAATATATAATGTATAATATAATATAT AATATAATATAAAATATATAATATATAATATATAATATTATATATTTTAT ATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGG CCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCA TATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCT CAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGT CCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCT AGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACT AATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCT TTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTTCA CTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCAAC TTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCC AGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCCTC TGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGATA TATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTATAC AA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(1131): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGA CGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	204	0.0049	1138	c.978 others(1155): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAG GAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGG GGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240786703	C C	CATCAGGA others(1131): Show CATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAG TGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCA CCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGA GTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGC CACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCT GAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGG GCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGA GTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGC TGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCT GAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGG GCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCC CTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGC CACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCT GAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGG GCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCC CTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGC CAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCT GAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGG GCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCC CTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAG GGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCT GAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGG CCGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0222 a0001c0020t0001g0222	1	330	0.0030	1138	c.430 others(1153): Show c.430-191_430-190insACTGGCCCCCACCCTCTCACTCAGGGGTCC TGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACC CCCTCACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGG TGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCT CTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTCCT GATGGTGGCCCCTACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACC CCCTCACTCAGGGGTCCTGATGGTGGCCCCCACCCTCTCACTCAGGGGTC CTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCT CTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCT GATGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACC CTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTC CTGATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCA TCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCT GATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCC CAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCA CCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCT GGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACC CTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTC CTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCA CCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACCCTCTCACTCAGGGT TCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGCGGCCCC CACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGG GTCCTGAT	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(1131): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGGCAGAAAGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACA GGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAG GCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAG CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	1138	c.-42 others(1149): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGC CGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGC TGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCAC CTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCC TTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGC CCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LSS_chr21_46183446_46233774	46184617	C C	CCAACCCA others(1131): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG TACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCACCAACCCAGTGGCC GGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGG GCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCACCAACC CAGTGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAA CCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCAC CACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCAC CACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACC CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGC ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACG GGCACCCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTG ATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCT GTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCC AGCCCTGTGATGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCAC ACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGC CACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18952.hp1 NA18965.hp2 NA18945.hp2 NA18952.hp1 NA18965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0004 a0001c0005t0006g0004	3	358	0.0084	1138	c.64 others(1149): Show c.6486_*6487insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCC ATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG TGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGC CACTGGGTTGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGG CCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTG TGGCCGGCCACTGGGTTGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAG GGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCA TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGC CCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCT GAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGT GGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGT GGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTT GGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGG GTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3828		chr21	TogoVar
LSS_chr21_46183446_46233774	46184617	C C	CCAACCCA others(1131): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG TACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCACCAACCCAGTGGCC GGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGG GCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCACCAACC CAGTGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAA CCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCAC CACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCAC CACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACC CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGC ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACG GGCACCCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTG ATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCT GTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCC AGCCCTGTGATGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCAC ACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGC CACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03831.hp1 others(2): Show HG03491.hp1 HG03492.hp1 HG03831.hp1 HG04204.hp1 HG04204.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0010c0027 a0001c0005 a0010c0027	a0001c0005t0006 a0010c0027t0006 a0001c0005t0006 a0010c0027t0006	a0001c0005t0006g0004 a0001c0005t0006g0039 a0001c0005t0006g0262 others(1): Show a0001c0005t0006g0004 a0001c0005t0006g0039 a0001c0005t0006g0262 a0010c0027t0006g0263	5	358	0.0140	1138	c.64 others(1149): Show c.6486_*6487insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCC ATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG TGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGC CACTGGGTTGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGG CCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTG TGGCCGGCCACTGGGTTGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAG GGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCA TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGC CCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCT GAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGT GGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGT GGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTT GGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGG GTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3828		chr21	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(1131): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCC CCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATG GGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC CGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGC ACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCA CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0015 a0014c0017t0015	a0014c0017t0015g0234 a0014c0017t0015g0234	1	292	0.0034	1138	c.218 others(1153): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGT GGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGA GGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGG CGCGGGGGGGGCACACTCGCCAGGAGCCTATGTGAGGCACAGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(1131): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTG ATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGA TGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAG GGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTGATG GTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGTGATGACAGTGAG TGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATGAGTGGGGATGAT TATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGTGA TGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATGAG TGGGGATGATTATGGTGATGGTGGTGGTGATGGTGACTGTTGTAATGGTG ATGGTGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA TGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGAT GATGATGAGTGGGGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGTG GTGATGGTGATGGTGGTGGTGACGACAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	380	0.0026	1138	c.255 others(1157): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCATCACC ATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAACAATCA CCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCACCATCACCATC ACCACCATCACCATCACAACAGTCACCATCACCACCATCATCCCCACTCA TCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCAT CACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCACCACCTTCACCACTCACTGTCGTCACCACCATCACCACCACCTTC ACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACT GTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(1131): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	1138	c.70 others(1149): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGAGACC others(1131): Show GGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCCGGGAGATCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCC TTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGAGCCCTCCCGGGAGATCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGG GCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGATCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGA CCCGAGGCCGCCCAGAGCCCTCCCGGGAGATCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGA GCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0142 a0001c0001t0014g0142	1	295	0.0034	1138	c.126 others(1157): Show c.1265+3462_1265+3463insAGACCCGAGGCCGTCCAGGGCCCTTC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGATCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGC CCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGATCCGAGG CCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCA GGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGATCC GAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTT CCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAG ATCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAG GCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCG GGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCA GGGCCCCCCCGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)