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
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1207): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGA AGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGGAAGGGAAGGGG AAGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGG GAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGG AAGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAG GGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGGGAGGGGA AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGG GGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAA GGAAAGGGGAATGGAAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGG GAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAG AGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGG GAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGG AAGGGGAAGGGAAGGGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGA GGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGA AGGGAAGGTGGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGA AGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGG AAGGGAAAGGAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGA AGGGAAGAGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAA GGGAAAAGGAGAAGAAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGA AGGAAGGGGGAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGAAGGGGAA GGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGAA GGGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0081 a0001c0003t0003g0081	1	242	0.0041	1214	c.927 others(1231): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTTCCTTT CCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCT TCCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCT TCCCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTCCCCTTC CCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCTTCCCCT CCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTC CCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCC CTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTT CCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCT TTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCT TTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCC CCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTCC TTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTT TTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCT TCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTT CCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATT CCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCC CCTCCCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCC CTCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCC CCTTCCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTT CCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1207): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGA AGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGGAAGGGAAGGGG AAGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGG GAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGG AAGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAG GGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGGGAGGGGA AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGG GGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAA GGAAAGGGGAATGGAAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGG GAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAG AGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGG GAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGG AAGGGGAAGGGAAGGGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGA GGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGA AGGGAAGGTGGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGA AGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGG AAGGGAAAGGAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGA AGGGAAGAGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAA GGGAAAAGGAGAAGAAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGA AGGAAGGGGGAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGAAGGGGAA GGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGAA GGGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0083 a0001c0003t0003g0083	1	242	0.0041	1214	c.927 others(1231): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTTCCTTT CCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCT TCCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCT TCCCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTCCCCTTC CCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCTTCCCCT CCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTC CCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCC CTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTT CCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCT TTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCT TTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCC CCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTCC TTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTT TTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCT TCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTT CCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATT CCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCC CCTCCCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCC CTCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCC CCTTCCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTT CCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1207): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGG AAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGGAAGGGAAGGG GAAGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGG GGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGGGGCAGGGAAG GGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGA AGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGGGAGGGGAAGGGGGAGG GGGAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AAGGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGA AGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAAAGGAAGGGGAAGGGGGAG GGAAAGGAAAGGGGAATGGAAGGGAAGGGAAAGGAAGGGGAAGGGAAGGG GAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAAAAGGAAGG AGAAGAGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGG GAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGG AAGGGAAGGGGGAAGGGAAGGGGGAAAGGGAAGGGGAAGGGAAAAGGAAG GAGAAGAGGAGGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAA GGGGGGGAAGGGAAGGTGGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGG GAAGGGGAAGGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAA AGGAAGGGGAAGGGAAAGGAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAG GGAAGGGGAAGGGAAGAGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGG GAAGGGGAAGGGGAAAAGGAGAAGAAGAGGGGAAGGGGAGGGGAAGGGAA GGGGAAAGGAAGGAAGGGGGAGGGGGAAAGGAAGGAAGGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAG ATGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAA AGGAAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0106 a0001c0003t0003g0106	1	242	0.0041	1214	c.927 others(1231): Show c.927+4817_927+4818insCCCCTTCCCCTTCCTTTCCCCTCCCCTT CCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCTTCCCCTTCCCT TTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCC TTCCTTCCTTTCCCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCTC CCCTTCCCCTCTTCTTCTCCTTTTCCCCTTCCCCTTCCCCTCCCCTTCTC CTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTCCCTTCCCCT TTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCT TCCCCTCCCCCTTCCCTTTCCCTTCCCCTTCCCCTTCCCCTTCCTTTCCA TTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCTTTCCCCTT CCCCTCCCCTTCCCCTCCCCTTCCCCCTCCTCTTCTCCTTCCTTTTCCCT TCCCCTTCCCTTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTTCCCCTCC CCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTCCTTCCT TTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTTTCCC TTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCC CTTCCTTTCCCTTCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCC TTCCTTTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTT CCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCC CTCCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCC CCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCC CTCCCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCC TCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCC CTTCCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTC CCTTCCCCTTCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(1207): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA AGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAG GCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGG TGGGGTGTGGACTGGACACAGCAGGCACGGCAGAAAGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAG GGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18992.hp2 NA18954.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0003 a0001c0001t0001g0011	2	398	0.0050	1214	c.-22 others(1225): Show c.-2276_-2275insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCT GCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC GCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACA CCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(1207): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGG GGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGAT CCTCCTCACAGGGAGGTGGATCCTCACGGGGAGGGGGATCCTCAGGGGGA GGGGGATCCTCACGGGGAGGGGATCCTCACGGGGAGGTGGATCCTCAGGG GGAGGGGGATCCTCACGGGGAGGAGGATCCTCAGGGGGAGGGGGATCCTC AGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATC CTCGGGAAGGTGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGTGGA TCCTCAGGGGGAGGGGGATCCTCACGGGGAGGTGGATCCTCAGGGGGAGG GGGATCCTCACGGGGAGGTGGATCCTCAGGGGGAGGTGGATCCTCACGGG GAGGGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGGATCCTCA GGGGGAGGGGGATCCTCACGGGGAGGTGGATCCTCAGGGGGAGGTGGATC CTCACGGGGAGGTGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGTG GATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGGATCCTCAGGGGGA GGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACA GGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCAC GGGGAGGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGGATCC TCACGGGGAGGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGG ATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGTGGATCCTCACAGGGAG GCGGGTCCTCACGGGGAGGGGGATCCTCAGAGGGAGGCGGGTCCTCACGG GGAGTGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAAGGGGATCCT CAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGG GATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0026 a0001c0017t0026	a0001c0017t0026g0027 a0001c0017t0026g0027	1	58	0.0172	1214	c.234 others(1235): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTCA TGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGA TCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGG GGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCA CGGGGAGGTGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGAGGATC CTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGG GATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCAGGGGGAGGG GGATCCTCACGGGGAGGTGGATCCTCAGGGGGAGGGGGATCCTCACGGGG AGGTGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGTGGATCCTCAG GGGGAGGTGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCC TCACAGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGTGG ATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGTGGATCCTCAGGGGGAG GGGGATCCTCACGGGGAGGTGGATCCTCAGGGGGAGGTGGATCCTCACGG GGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTC AGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCT CACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGTGGA TCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGG TGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGG GAGGTGGATCCTCACAGGGAGGCGGGTCCTCACGGGGAGGGGGATCCTCA GAGGGAGGCGGGTCCTCACGGGGAGTGGGGATCCTCACGGGGAGGGGGAT CCTCACGGGGAAGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGG GGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC183_chr9_136791338_136812741	136802876	G G	GGGGGCCC others(1207): Show GGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	398	0.0050	1214	c.666 others(1229): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAAGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAAGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CLPTM1L_chr5_1312752_1350099	1333123	C C	CAGATAAG others(1207): Show CAGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGAC TACTGTATACACACGGGATGAGGATGAGGGGACTATTGTATACACACAGA TGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGG ACTACTGTATACACACACGGGATGAGGATAAGGGGGGACTACTGTATACA CATTGGATGAGGATAAGGGGGGGACTATTGTATACACACCAGATGAGGAT AAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTG TATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATG AGGATGAGGGACTATTGTATACACACCAGATGATGATAAGGGGGACTACT GTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGAT GAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGA CTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACAC CAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGG GGAGACTACTGTATACACACGGGATGAGGATGAGGGACTATTGTATACAC ACCAGATGATGATAAGGGGGACTACTGTATACACATTGGATGAGGATAAG GGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAT ACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGG ATAAGGGGGACTACTGTAGACACACGGGATGAGGATAAGGGGGGACTACT GTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACATTGGAT GAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGA CTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTACACACAC GGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATAC ACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGAT AAGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGCGACTACTGT ATACACACCAGATGA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	370	0.0027	1214	c.891 others(1231): Show c.891+1165_891+1166insTCATCTGGTGTGTATACAGTAGTCGCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTATCCTCATCCGGT GTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTC CCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTATCCTCATC CGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCT TATCCTCATCCCGTGTGTCTACAGTAGTCCCCCTTATCCTCATCCGGTGT GTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCC CCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCC AATGTGTATACAGTAGTCCCCCTTATCATCATCTGGTGTGTATACAATAG TCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATC CGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGT AGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCTT ATCATCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTA TACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCC TTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGT GTGTATACAATAGTCCCCCCCTTATCCTCATCCAATGTGTATACAGTAGT CCCCCCTTATCCTCATCCCGTGTGTGTATACAGTAGTCCCCCCTTATCCT CATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGTGTGTATAC AATAGTCCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATC CTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1207): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGGGGGTGCAGTTTATAGATAATATGGGG GCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGG GGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGA TAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGG GCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGT GTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATAT GGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAG GGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTA GATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGG TGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0228 a0001c0004t0002g0228	1	272	0.0037	1214	c.109 others(1233): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGGTGGGGGTGCAGTTTATAGATAATAT GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGT GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGGTGCAGTTTATA GATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGTGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGT ATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAA TATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTA GGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTT TATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATG GGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGG GTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAG ATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1207): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGTC AGGGCGGGGGTGCAGTTTATAGATGATATGGGGGTAGGGAGGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGA TAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGG GCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGT GTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATAT GGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAG GGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTA GATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGG TGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0034 a0001c0008t0034	a0001c0008t0034g0151 a0001c0008t0034g0151	1	272	0.0037	1214	c.109 others(1233): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGTCAGGGCGGGGGTGCAGTTTATAGATGATATGGGGGTAGG GAGGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGT ATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAA TATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTA GGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTT TATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATG GGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGG GTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAG ATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYLC1_chrX_83856146_83891698	83878202	A A	AATATATA others(1207): Show AATATATATAAATATATATAAAAATATATATATAAATATATATAAATATA TATAAAAATATATATAAATTTATATAATATATATATAAAAATATATATTA TATATATTATATATATAAATATATATATAAAAATATATATTATATATATT ATATATATAAATATATATATAAAAATATATATTATATATATTATATATAT AAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATTATATATATTATATATATAAATATATATATATAAATATATAT TATATATATTATATATATAAATATATATATAAATATATATTATATATATT ATATATAATATATATATAAAATATATATAAATATATATAAATATATATAA AATATATAAATATATATAAAAATATATATAAAATATATAAATATATATAA AAATATATATATAAATATATATATAAAAATATATATAAAAATATGTATAT AATATATATATGAAAATATATATAAAAATATATATATAAATATATATCAA TATATATATAAAATATATATAAATATATATATAAAATATATATATAAAAT ATATATAAATACATATATAAATATATATATAAATATATATAAATATATAT ATATAAAATATATATAAAATATATATATAAAATATATATAAAAATATATA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATACA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATATA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAAAATATA TAAATATATATAAATATATAAAAACATATATAAATATATAAATATATATA AATATATAAATATATATATAAATATATAAATATATATAAATATATATAAA TATATATATAAATATATAAATATATATAAATATATATAAATATATATATA AATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATATAAAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	208	0.0048	1214	c.192 others(1233): Show c.1923+3590_1923+3591insAAAATATATATATAAATATATATAAA TATATATAAAAATATATATAAATTTATATAATATATATATAAAAATATAT ATTATATATATTATATATATAAATATATATATAAAAATATATATTATATA TATTATATATATAAATATATATATAAAAATATATATTATATATATTATAT ATATAAATATATATATAAAAATATATATTATATATATTATATATATAAAT ATATATATAAAAATATATATTATATATATTATATATATAAATATATATAT AAAAATATATATTATATATATTATATATATAAATATATATATATAAATAT ATATTATATATATTATATATATAAATATATATATAAATATATATTATATA TATTATATATAATATATATATAAAATATATATAAATATATATAAATATAT ATAAAATATATAAATATATATAAAAATATATATAAAATATATAAATATAT ATAAAAATATATATATAAATATATATATAAAAATATATATAAAAATATGT ATATAATATATATATGAAAATATATATAAAAATATATATATAAATATATA TCAATATATATATAAAATATATATAAATATATATATAAAATATATATATA AAATATATATAAATACATATATAAATATATATATAAATATATATAAATAT ATATATATAAAATATATATAAAATATATATATAAAATATATATAAAAATA TATATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATA TACATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATA TATATATAAAATATATATAAAAATATATATATAAAATATATATAAAAAAA TATATAAATATATATAAATATATAAAAACATATATAAATATATAAATATA TATAAATATATAAATATATATATAAATATATAAATATATATAAATATATA TAAATATATATATAAATATATAAATATATATAAATATATATAAATATATA TATAAATATATAAATATATATATAAATATATATAAATATATATAAATATA TAAATATATATATAAATATATATAAATATATATAAATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATATAAATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	316	0.0032	1214	c.49 others(1225): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0018 a0002c0007t0002g0018	1	316	0.0032	1214	c.49 others(1225): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0180 a0002c0014t0001g0180	1	316	0.0032	1214	c.49 others(1225): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01517.hp2 HG02109.hp2 others(13): Show HG00544.hp2 HG01517.hp2 HG02109.hp2 HG02165.hp1 HG02258.hp1 HG02630.hp1 HG02698.hp2 HG02896.hp1 HG03579.hp1 HG03834.hp1 NA18946.hp1 NA18985.hp1 NA19064.hp2 NA19068.hp2 NA19084.hp2 NA20129.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0008 a0017 a0020 a0030 a0055 a0066	a0001c0001 a0001c0002 a0001c0018 others(9): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003 a0003c0004 a0005c0027 a0008c0026 a0017c0024 a0020c0035 a0030c0030 a0055c0125 a0066c0068	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0018t0003 a0002c0003t0001 a0002c0003t0003 a0003c0004t0001 a0005c0027t0001 a0008c0026t0002 a0017c0024t0003 a0020c0035t0002 a0030c0030t0003 a0055c0125t0003 a0066c0068t0001	a0001c0001t0002g0007 a0001c0001t0003g0289 a0001c0002t0001g0171 others(13): Show a0001c0001t0002g0007 a0001c0001t0003g0289 a0001c0002t0001g0171 a0001c0018t0003g0265 a0002c0003t0001g0124 a0002c0003t0003g0310 a0003c0004t0001g0114 a0003c0004t0001g0212 a0003c0004t0001g0224 a0005c0027t0001g0144 a0008c0026t0002g0058 a0017c0024t0003g0251 a0020c0035t0002g0004 a0030c0030t0003g0305 a0055c0125t0003g0294 a0066c0068t0001g0189	16	316	0.0506	1214	c.49 others(1225): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02004.hp2 NA18950.hp2 others(3): Show HG01081.hp1 HG02004.hp2 NA18950.hp2 NA18985.hp2 NA20805.hp1 NA20905.hp2	a0001 a0012 a0061 others(1): Show a0001 a0012 a0061 a0068	a0001c0005 a0012c0011 a0061c0073 others(1): Show a0001c0005 a0012c0011 a0061c0073 a0068c0065	a0001c0005t0001 a0012c0011t0001 a0012c0011t0002 others(2): Show a0001c0005t0001 a0012c0011t0001 a0012c0011t0002 a0061c0073t0007 a0068c0065t0003	a0001c0005t0001g0106 a0001c0005t0001g0133 a0012c0011t0001g0122 others(3): Show a0001c0005t0001g0106 a0001c0005t0001g0133 a0012c0011t0001g0122 a0012c0011t0002g0016 a0061c0073t0007g0168 a0068c0065t0003g0299	6	316	0.0190	1214	c.49 others(1225): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGTT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCTGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0139 a0001c0139	a0001c0139t0001 a0001c0139t0001	a0001c0139t0001g0220 a0001c0139t0001g0220	1	316	0.0032	1214	c.49 others(1225): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGTTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCTGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCGTCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	316	0.0032	1214	c.49 others(1225): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCC CCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAG GTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTT CCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTT GCCTCTTTTCCCTGGCCTTCCTTGTTCCGTCGCCCCCACTTGGGCTTATC GCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCG ACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCT GGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTG TCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGC CTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGG AGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTC GCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0222 a0002c0003t0001g0222	1	316	0.0032	1214	c.49 others(1225): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAJB6_chr7_157332004_157422439	157369865	C C	CACATTAT others(1207): Show CACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTACTAAACAGGCCCCTTCTTAACATTATTATTAAACA GGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATT AAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTA TTACTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAA CATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGG CCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATTAA ACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAACGTTATT ATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAAC ATTATTATTAAACAGGCCTTTCATAACATTATTATTAAACGGGCCCCTTC TTAACATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGGC CCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACG GGCCCTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTAT TAAAGAGGCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAACGTT ATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACA GGCCTTTCATAATATTATTATTAAACGAGCCCCTTCTTAACATCATTATT AAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTA TTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAA CATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGG CCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATTAA ACGGGCCCCTTCTTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0146 a0001c0001t0024g0146	1	372	0.0027	1214	c.346 others(1231): Show c.346+2402_346+2403insTTTCATAACGTTATTATTAAACGGGCCC CTTCTTCACATTATTACTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTAT TAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATT ATTACTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATA ACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTT TCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAG GCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATTA AACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAACGTTAT TATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAA CATTATTATTAAACAGGCCTTTCATAACATTATTATTAAACGGGCCCCTT CTTAACATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGG CCCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAAC GGGCCCTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTA TTAAAGAGGCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAACGT TATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCT TAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCC CTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAATATTATTATTAAACGAGCCCCTTCTTAACATCATTAT TAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATT ATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATA ACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTT TCATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAG GCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATTA AACGGGCCCCTTCTTAACATTATTATTAAACAGGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEF1A2_chr20_63483014_63504083	63486915	C C	CGCATCCT others(1207): Show CGCATCCTCAGGGAAGCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA ACCTGCCCACCCTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGC CCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCT CCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCACCCTCCACCC CACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTC CTCCGAATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGC ATCCTCAGGGAAGCTGCCCAACCTCCACCCTGACCCTCCTCTGCATCCTC AGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGC CTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCA CCTTCCACCCCACCCTCCTCCGAATCCTCAGGGAGCCTGCCCACCCTCCA CCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGA CCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCT CTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGAATCCTCAGGG AGCCTGCCCACCCTCCACCCAGACCCTCCTCTGTATCCTCAGGGAACCTG CCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCC TCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCACCCTCCACC CCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCT CCTCCGAATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTG CATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTC AGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAA GCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCC ATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCC ACCCCACCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0134 a0001c0005t0001g0134	1	374	0.0027	1214	c.13 others(1225): Show c.1382_*1383insAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCC TGAGGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGAT GCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGG AGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGG AGGGTGGGCAGGCTCCCTGAGGATTCGGAGGAGGGTGGGGTGGAGGGTGG GCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTT CCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGA GGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACA GAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATTCGGAGGAG GGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGG TGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGG TGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCA GCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCC CTGAGGATTCGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGA TGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTC AGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTG GAGGGTGGGCAGGCTCCCTGAGGATTCGGAGGAGGGTGGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTG AGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATAC AGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGA GGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGCTTCCCTGAGGATGC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1098		chr20	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1207): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(40): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp2 HG02698.hp1 HG02738.hp1 HG03239.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp1 NA18961.hp2 NA18963.hp1 NA18993.hp1 NA18998.hp1 NA19006.hp2 NA19007.hp1 NA19054.hp1 NA19080.hp1 NA19089.hp2 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(40): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0012t0001g0187 a0001c0012t0001g0196	43	248	0.1734	1214	c.273 others(1233): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1207): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAGAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	248	0.0040	1214	c.273 others(1233): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAGAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
EHMT1_chr9_137614005_137841127	137716335	G G	GTGTCATG others(1207): Show GTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTC GTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	170	0.0059	1214	c.86- others(1227): Show c.86-289_86-288insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGT CATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTC GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EVC2_chr4_5557439_5713559	5706433	G G	GATACATA others(1207): Show GATACATAGATAGAGAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATACA TACATACATACATACATAGATAGATAGATACATAGATAGATAGATACATA CATAGATAGATAGATAGATAGATACATAGATAGATAGATACATACATACA TAGATAGATAGATACATAGATACATAGATAGATAGATACATAGATAGATA GATAGATAGATACATAGATACATAGATAGATAGATAGATAGATACATAGA TAGATACATAGATAGACAGATAGATAGATACATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATACATAGAGATACATAGATAGATA GATACATACATACATACATAGATACATAGATAGATAGATACATAGATAGA TAGATACATACATACATACATAGATAGATAGATAGATACATAGATAGATA CATACATAGATAGATACATACATACATAAATAGATAGATACATAGATAGA TAGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGACAGATACATAGATAGA TACATAGATACATAGATAGACAGATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACA TAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATA GATACATAGATACATACATAGATAGATAGATAGATAGATACATACATACA TACATACATACATAGATACATAGATAGATAGATACATAGATAGATACATA GATAGATAGATAGATACATACATACATACATACATACATACATAGATAGA TAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATA CATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACA TAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0172 a0001c0014t0001g0172	1	292	0.0034	1214	c.228 others(1231): Show c.228+1852_228+1853insGTATCTATCTATCTATGTATCTATCTAT CTATGTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGT GTCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATGTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATGTATCTATGTATCT ATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATGTAT GTATGTATGTATGTATGTATGTATCTATCTATCTATCTATGTATCTATCT ATGTATCTATCTATCTATGTATCTATGTATGTATGTATGTATGTATGTAT CTATCTATCTATCTATCTATGTATGTATCTATGTATCTATCTATCTATGT ATCTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTAT CTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATGT ATCTATCTATCTATCTGTCTATCTATGTATCTATGTATCTATCTATGTAT CTGTCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATGT ATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATGTAT CTATCTATTTATGTATGTATGTATCTATCTATGTATGTATCTATCTATGT ATCTATCTATCTATCTATGTATGTATGTATGTATCTATCTATCTATGTAT CTATCTATCTATGTATCTATGTATGTATGTATGTATCTATCTATCTATGT ATCTCTATGTATCTATCTATCTATGTATCTATCTATCTATCTATCTATCT ATCTATGTATCTATCTATCTGTCTATCTATGTATCTATCTATGTATCTAT CTATCTATCTATCTATGTATCTATGTATCTATCTATCTATCTATCTATGT ATCTATCTATCTATGTATCTATGTATCTATCTATCTATGTATGTATGTAT CTATCTATCTATGTATCTATCTATCTATCTATCTATGTATGTATCTATCT ATCTATGTATCTATCTATCTATGTATGTATGTATGTATGTATGTATGTAT GTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGT ATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTAT CTATGTATCTATCTATCTATCTCTCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706433	G G	GATACATA others(1207): Show GATACATAGATAGAGAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATACA TACATACATACATACATAGATAGATAGATACATAGATAGATAGATACATA CATAGATAGATAGATAGATAGATACATAGATAGATAGATACATACATACA TAGATAGATAGATACATAGATACATAGATAGATAGATACATAGATAGATA GATAGATAGATACATAGATACATAGATAGATAGATAGATAGATACATAGA TAGATACATAGATAGACAGATAGATAGATACATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATACATAGAGATACATAGATAGATA GATACATACATACATACATAGATACATAGATAGATAGATACATAGATAGA TAGATACATACATACATACATAGATAGATAGATAGATACATAGATAGATA CATACATAGATAGATACATACATACATAAATAGATAGATACATAGATAGA TAGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGACAGATACATAGATAGA TACATAGATACATAGATAGACAGATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACA TAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATA GATACATAGATACATACATAGATAGATAGATAGATAGATACATACATACA TACATACATACATAGATACATAGATAGATAGATACATAGATAGATACATA GATAGATAGATAGATACATACATACATACATACATACATACATAGATAGA TAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATA CATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACA TAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0012 a0012	a0012c0037 a0012c0037	a0012c0037t0003 a0012c0037t0003	a0012c0037t0003g0184 a0012c0037t0003g0184	1	369	0.0027	1214	c.-49 others(1225): Show c.-4948_-4947insATACATAGATAGAGAGATAGATAGATAGATACAT AGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT ACATACATACATACATACATACATACATACATAGATAGATAGATACATAG ATAGATAGATACATACATAGATAGATAGATAGATAGATACATAGATAGAT AGATACATACATACATAGATAGATAGATACATAGATACATAGATAGATAG ATACATAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGAT AGATAGATACATAGATAGATACATAGATAGACAGATAGATAGATACATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATAGAG ATACATAGATAGATAGATACATACATACATACATAGATACATAGATAGAT AGATACATAGATAGATAGATACATACATACATACATAGATAGATAGATAG ATACATAGATAGATACATACATAGATAGATACATACATACATAAATAGAT AGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAG ATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGAC AGATACATAGATAGATACATAGATACATAGATAGACAGATAGATAGATAG ATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGAT AGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAG ATACATAGATAGATAGATACATAGATACATACATAGATAGATAGATAGAT AGATACATACATACATACATACATACATAGATACATAGATAGATAGATAC ATAGATAGATACATAGATAGATAGATAGATACATACATACATACATACAT ACATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAG ATAGATACATAGATACATACATAGATAGATAGATAGATACATAGATAGAT AGATACATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAG ACACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATACAT AGATAGATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4767		chr4	TogoVar
FOXK2_chr17_82514732_82609602	82586503	G G	GGGGGAAA others(1207): Show GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTCAAAGGTAGGCAGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0159 a0001c0001t0035g0159	1	308	0.0033	1214	c.157 others(1231): Show c.1576+337_1576+338insGAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAATGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTAGGCAGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC AGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19060.hp1 HG04199.hp1 NA19060.hp1	a0005 a0014 a0005 a0014	a0005c0014 a0014c0022 a0005c0014 a0014c0022	a0005c0014t0001 a0014c0022t0001 a0005c0014t0001 a0014c0022t0001	a0005c0014t0001g0277 a0014c0022t0001g0305 a0005c0014t0001g0277 a0014c0022t0001g0305	2	388	0.0052	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	388	0.0026	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0012 a0012	a0012c0071 a0012c0071	a0012c0071t0003 a0012c0071t0003	a0012c0071t0003g0194 a0012c0071t0003g0194	1	388	0.0026	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01515.hp1 HG01891.hp2 others(16): Show HG00544.hp1 HG01515.hp1 HG01891.hp2 HG02109.hp2 HG02165.hp1 HG02258.hp1 HG02630.hp2 HG02896.hp2 HG02976.hp1 HG03453.hp1 HG03579.hp1 HG03834.hp2 NA18970.hp1 NA18985.hp1 NA18990.hp1 NA18998.hp2 NA19064.hp1 NA19068.hp2 NA20129.hp2	a0001 a0009 a0012 others(2): Show a0001 a0009 a0012 a0019 a0024	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0001c0030 a0009c0047 a0012c0020 a0012c0069 a0019c0025 a0024c0031	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0003 a0001c0015t0005 a0001c0030t0002 a0009c0047t0015 a0012c0020t0003 a0012c0069t0001 a0019c0025t0001 a0024c0031t0005	a0001c0001t0002g0037 a0001c0001t0002g0170 a0001c0001t0002g0225 others(14): Show a0001c0001t0002g0037 a0001c0001t0002g0170 a0001c0001t0002g0225 a0001c0001t0002g0255 a0001c0002t0001g0043 a0001c0002t0001g0103 a0001c0002t0001g0109 a0001c0002t0001g0294 a0001c0002t0002g0042 a0001c0004t0003g0205 a0001c0015t0005g0313 a0001c0030t0002g0271 a0009c0047t0015g0108 a0012c0020t0003g0210 a0012c0069t0001g0042 a0019c0025t0001g0101 a0024c0031t0005g0316	19	388	0.0490	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp2 NA18950.hp1 others(3): Show HG01081.hp2 HG02004.hp2 NA18950.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0058 a0001c0001 a0009c0058	a0001c0001t0002 a0001c0001t0004 a0009c0058t0004 a0001c0001t0002 a0001c0001t0004 a0009c0058t0004	a0001c0001t0002g0233 a0001c0001t0004g0010 a0001c0001t0004g0259 others(1): Show a0001c0001t0002g0233 a0001c0001t0004g0010 a0001c0001t0004g0259 a0009c0058t0004g0234	6	388	0.0155	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0004 a0001c0029t0004	a0001c0029t0004g0243 a0001c0029t0004g0243	1	388	0.0026	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGTT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCTGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	388	0.0026	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGTTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCTGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCGTCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	388	0.0026	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGC TTCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCGTCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGGACAGACACCCAGCAGGTAACCCCGGCCTG GCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCT TTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTG GCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCG CCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCC CTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGG GCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGA GTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGG CCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATT TAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGT CTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0002 a0023c0027t0002	a0023c0027t0002g0155 a0023c0027t0002g0155	1	388	0.0026	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGC TTCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGGACAGACA CCCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTC CACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCC CCGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTG GGCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTT CTCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGG CTCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCC TGGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAG TTCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAG GGGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGC TCTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGG GGGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCT CACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1207): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA19083.hp1 HG01993.hp2 NA19083.hp1	a0001 a0052 a0001 a0052	a0001c0004 a0052c0041 a0001c0004 a0052c0041	a0001c0004t0003 a0052c0041t0001 a0001c0004t0003 a0052c0041t0001	a0001c0004t0003g0215 a0052c0041t0001g0302 a0001c0004t0003g0215 a0052c0041t0001g0302	2	388	0.0052	1214	c.-38 others(1233): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KIF25_chr6_167992671_168050091	167997458	G G	GGGGCGGG others(1207): Show GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGG GTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGG TGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGC GGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0336 a0003c0004t0005g0336	1	375	0.0027	1214	c.-20 others(1225): Show c.-2011_-2010insGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTGGGGGAATCTGCA GAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAAT CTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATC TGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATC TGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		212		chr6	TogoVar
LSS_chr21_46183446_46233774	46184609	C C	CACCACCA others(1207): Show CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGT ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATG GGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCT GTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCC AGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACC TCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGC CACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCATCCCAGTGG GCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACC CAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCA CCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGACGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGTACTCAGGACCACCAACAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGTACTCAGGACCACCAACAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGACGGGTACTCAGGACCACCAAC AACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACC ACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCC ACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCA CCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGA CGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGATGGGTACTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02922.hp2 NA20300.hp2 HG01074.hp1 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0007 a0001c0004t0003 a0001c0004t0007	a0001c0004t0003g0130 a0001c0004t0003g0144 a0001c0004t0007g0145 a0001c0004t0003g0130 a0001c0004t0003g0144 a0001c0004t0007g0145	3	358	0.0084	1214	c.64 others(1225): Show c.6494_*6495insCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTG AGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTG GTCCTGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG TTGGTGGTCCTGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACT GGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTACCCATCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAG GGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTCCTGAGTACCCA TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAG TACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGT CCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTT GGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGG GTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCAC TGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCG GCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTG TGGCCGGCCCACTGGGTTGGTGGTGGTGGGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGT	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3836		chr21	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GGCCCCCC others(1207): Show GGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTC ACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACC CTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCCTCT AACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCC TTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGC CCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCC CAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCA CACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCA GGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCC TCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGACCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0087 a0002c0004t0022g0087	1	118	0.0085	1214	c.125 others(1231): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGA GGGTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGC GTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGG TTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAG AGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGGTGT GCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAGGGGGGCTTG GTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGC CTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GGCCCCCC others(1207): Show GGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTC ACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACC CTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCCTCT AACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCC TTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGC CCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCC CAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCA CACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCA GGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCTTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCC TCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGACCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0063 a0002c0008t0002g0063	1	118	0.0085	1214	c.125 others(1231): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGA GGGTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGC GTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGG TTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAG AGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGGTGT GCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAGGGGGGCTTG GTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGC CTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GGCCCCCC others(1207): Show GGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTC ACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACC CTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCCTCT AACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCC TTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGC CCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCC CAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCA CACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCA GGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCC TCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGACCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	118	0.0085	1214	c.125 others(1231): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGA GGGTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGC GTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGG TTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAG AGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGGTGT GCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAGGGGGGCTTG GTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGC CTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GGCCCCCC others(1207): Show GGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTC ACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACC CTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCCTCT AACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCC TTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGC CCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCC CAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCA CACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCA GGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCC TCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGACCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01192.hp1 others(10): Show HG00733.hp1 HG00733.hp2 HG01192.hp1 HG02071.hp1 HG02155.hp1 HG02683.hp1 HG03209.hp2 NA18942.hp1 NA18967.hp1 NA19055.hp2 NA19074.hp1 NA19091.hp1 NA20752.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0007 a0001c0013 others(6): Show a0001c0001 a0001c0007 a0001c0013 a0001c0020 a0002c0002 a0002c0004 a0002c0022 a0002c0034 a0008c0036	a0001c0001t0001 a0001c0001t0007 a0001c0007t0006 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0007t0006 a0001c0013t0007 a0001c0020t0001 a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 a0002c0022t0016 a0002c0034t0002 a0008c0036t0001	a0001c0001t0001g0094 a0001c0001t0007g0090 a0001c0007t0006g0015 others(10): Show a0001c0001t0001g0094 a0001c0001t0007g0090 a0001c0007t0006g0015 a0001c0013t0007g0101 a0001c0020t0001g0089 a0002c0002t0002g0088 a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0004t0001g0041 a0002c0004t0001g0092 a0002c0022t0016g0065 a0002c0034t0002g0091 a0008c0036t0001g0097	13	118	0.1102	1214	c.125 others(1231): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGA GGGTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGC GTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGG TTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAG AGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGGTGT GCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAGGGGGGCTTG GTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGC CTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GGCCCCCC others(1207): Show GGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTC ACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACC CTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCCTCT AACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCC TTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGC CCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTACCCCTCTGCATGCC CAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCA CACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCA GGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCC TCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACAC CCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGACCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAA CCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0017 a0001c0009t0006g0017	1	118	0.0085	1214	c.125 others(1231): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGTCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGA GGGTTAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAG GGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGC GTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCT GGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGG GTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAG AGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGGTGT GCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAGGGGGGCTTG GTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGC CTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SNTG2_chr2_945849_1372613	1111962	C C	CAGTCCTT others(1207): Show CAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATAC TCCTTTGAGGAGGATCGTGTGTACTGAGGTTTAACCCTTAGAGTCCTTTG AGGAGGATCGTGTGTACTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAA TCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCG TGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCGTGT GTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAATCGTGTGTA CTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTA AGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGT GAGGTTTAACCCTTACAGTCCTTTGAGAAGGATCGTGTGTACTAAGTGAG GTTTTACCCTTACAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTT AAACCCTTACAGTACTTTGAGGATAATCATGTATACTAAGTGAGGTTTAA GCCTTACACTGCTTTGAGAAGGATCGTGTGTACTAAGGGAGGTTTAACCC TTAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTG CAGTCGTTTGAGAAGGATCGTGAGTACTAAGTGAGGTTTAACCCTTACAG TCCTTTGAGGAGGATCCTGTGTACTAAGTGAGGTTTAACCCTTATACTCC TTTGAGAAGAATCGTGTGTACTAACTGAGGTTTAATCCTCACAGTACTTG GAGGAGGATCATGTATACTAAGTGAGGTTTAACACTTACAGTTCATTGAG GAGGATTTTGTGTACTAAGTGAGGTTTAAACCTCACAGTCCTTTGTGAAG GATCGTGTGTACTAAGTGAGGTGTAACCCTTAGAGTCCTTTGAGGAGGAT CGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAATCGT GTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCGTGTG TACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCGTGTGTAC TAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAATCGTGTGTACTAA GTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTAAGTG AGGTTTAACCCTTAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	190	0.0053	1214	c.325 others(1233): Show c.325+13563_325+13564insAAGAATCGTGTGTACTAAGTGAGGTT TAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTGAGGTTTAACCCT TAGAGTCCTTTGAGGAGGATCGTGTGTACTGAGGTTTAACCCTTACAGTC CTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTT TGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGA GGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAA GAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGA TCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCG TGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGGATCGTGT GTACTAAGTGAGGTTTTACCCTTACAGTCCTTTGAGGAGGATCGTGTGTA CTAAGTGAGGTTAAACCCTTACAGTACTTTGAGGATAATCATGTATACTA AGTGAGGTTTAAGCCTTACACTGCTTTGAGAAGGATCGTGTGTACTAAGG GAGGTTTAACCCTTAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAG GTTTAACCCTTGCAGTCGTTTGAGAAGGATCGTGAGTACTAAGTGAGGTT TAACCCTTACAGTCCTTTGAGGAGGATCCTGTGTACTAAGTGAGGTTTAA CCCTTATACTCCTTTGAGAAGAATCGTGTGTACTAACTGAGGTTTAATCC TCACAGTACTTGGAGGAGGATCATGTATACTAAGTGAGGTTTAACACTTA CAGTTCATTGAGGAGGATTTTGTGTACTAAGTGAGGTTTAAACCTCACAG TCCTTTGTGAAGGATCGTGTGTACTAAGTGAGGTGTAACCCTTAGAGTCC TTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTT GAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAG GAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAGGAG GATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGAAT CGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAGGAGGATCGT GTGTACTAAGTGAGGTTTAACCCTTAGAGTCCTTTGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46184609	C C	CACCACCA others(1207): Show CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGT ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATG GGCACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCT GTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCC AGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACC TCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGC CACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCATCCCAGTGG GCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCACCAACC CAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCA CCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGACGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGTACTCAGGACCACCAACAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGTACTCAGGACCACCAACAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGACGGGTACTCAGGACCACCAAC AACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACC ACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCC ACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCA CCCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGA CGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGATGGGTACTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02922.hp1 NA20300.hp2 HG01074.hp2 HG02922.hp1 NA20300.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0014 a0007c0007t0014	a0007c0007t0014g0054 a0007c0007t0014g0055 a0007c0007t0014g0059 a0007c0007t0014g0054 a0007c0007t0014g0055 a0007c0007t0014g0059	3	251	0.0120	1214	c.-12 others(1225): Show c.-1213_-1212insCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCT GGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTG AGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTG GTCCTGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG TTGGTGGTCCTGAGTACCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACT GGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTACCCATCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAG GGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTCCTGAGTACCCA TCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAG TACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGT CCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTT GGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGG GTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCAC TGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCG GCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTG TGGCCGGCCCACTGGGTTGGTGGTGGTGGGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGGTGGTGGT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		151		chr21	TogoVar
TCERG1L_chr10_131087391_131316721	131176845	C C	CACACAAA others(1207): Show CACACAAAGAGACACGTGCACACACACCAAAACACATGCACACACAGAGA GACACAGGCACACACACCAAGACATGTGTACACAGACACATGCACACAGA GACACGTGCACACACAGACATGTGTACACACACAGTGTACACACACAGAG ATAGGAACACACAGAGACACGTGCACACACACCAAAACACATGCACACAC AGACACATTCACACACACCAAGATACATGCACACAGAGACACATGAACAC ACACCAAGACACGTGTACACATAGACACATGCACACACAGATACGTGTAT ACACAGACACATGCACACACACAGACATGTATACACACACAGAGACACAT ACACACACAGACGCATGTACTCACAGAGACACATGCACACACAGACACGT GTACAGAGATATGCACACACACAGACACGTGTACACACACCAAGAAACAT GCACACACAGAGACACATGCACACACAAACATGTGTACACGCACAGAGAT AGGCACAAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAG AGACACATGCACACACCATAACATGTGCACATACACCAAGACACATGTAC ACACAGAGATACGTGTACACACACCAAGAAACATGCACACACAGACACGT GTACACCCACAGAGATAGGCACATACAAAGAGGCACGTGCACACACACCA AAACACATGCACACACACAGAGACACATGCACACACCATAACATGTGCAC ATACACCAAGACACATGTACACACAGAGATACGTGTACACACACCAAGAA ACATGCACACACAGACACATGTACACACACCAAGAAACATGCACACACAG AGACACATGCACACACAAACACGTGTACACCCACAGAGATAGGCACATAC AAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGACACGT GCACACACACCAAGACATGTGCACATACACCAAGACACATGTATACACAG AGATACACGTACACACACAGAGACACATGCACACACAGACATGTGTACAC ACAGAGAGATAGGCACACACAAAGAGACACGTGCACACACACCAAAACAC ATGCACACACAGAGAGACACAGGCACACACACCAAGACGTGTACACAGAC ACATGCACACAGAGACACGTGCACACACAGACATGTGTACACACACAGAG TGTACACACACAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp2 HG01496.hp1 others(11): Show HG00609.hp2 HG01261.hp2 HG01496.hp1 HG02040.hp1 HG02165.hp1 NA18940.hp1 NA18952.hp2 NA18959.hp2 NA18974.hp1 NA18986.hp2 NA18990.hp1 NA18995.hp2 NA19057.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0001c0003t0006 a0001c0008t0011	a0001c0001t0001g0110 a0001c0001t0002g0255 a0001c0001t0002g0290 others(11): Show a0001c0001t0001g0110 a0001c0001t0002g0255 a0001c0001t0002g0290 a0001c0001t0003g0035 a0001c0001t0003g0113 a0001c0001t0005g0251 a0001c0001t0011g0186 a0001c0001t0019g0184 a0001c0002t0001g0131 a0001c0002t0003g0140 a0001c0002t0003g0166 a0001c0003t0003g0012 a0001c0003t0006g0008 a0001c0008t0011g0185	14	324	0.0432	1214	c.857 others(1231): Show c.857-9961_857-9960insCTCTGTGTGTGTACACTCTGTGTGTGTA CACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTGTGTACACG TCTTGGTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTGTTTTGGTGTG TGTGCACGTGTCTCTTTGTGTGTGCCTATCTCTCTGTGTGTACACATGTC TGTGTGTGCATGTGTCTCTGTGTGTGTACGTGTATCTCTGTGTATACATG TGTCTTGGTGTATGTGCACATGTCTTGGTGTGTGTGCACGTGTCTGTGTG TGTGCATGTGTTTTGGTGTGTGTGCACGTGCCTCTTTGTATGTGCCTATC TCTGTGGGTGTACACGTGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATG TTTCTTGGTGTGTGTACATGTGTCTGTGTGTGCATGTTTCTTGGTGTGTG TACACGTATCTCTGTGTGTACATGTGTCTTGGTGTATGTGCACATGTTAT GGTGTGTGCATGTGTCTCTGTGTGTGTGCATGTGTTTTGGTGTGTGTGCA CGTGCCTCTTTGTATGTGCCTATCTCTGTGGGTGTACACGTGTCTGTGTG TGCATGTTTCTTGGTGTGTGTACACGTATCTCTGTGTGTACATGTGTCTT GGTGTATGTGCACATGTTATGGTGTGTGCATGTGTCTCTGTGTGTGTGCA TGTGTTTTGGTGTGTGTGCACGTGCCTCTTTGTGCCTATCTCTGTGCGTG TACACATGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCTTGGTG TGTGTACACGTGTCTGTGTGTGTGCATATCTCTGTACACGTGTCTGTGTG TGCATGTGTCTCTGTGAGTACATGCGTCTGTGTGTGTATGTGTCTCTGTG TGTGTATACATGTCTGTGTGTGTGCATGTGTCTGTGTATACACGTATCTG TGTGTGCATGTGTCTATGTGTACACGTGTCTTGGTGTGTGTTCATGTGTC TCTGTGTGCATGTATCTTGGTGTGTGTGAATGTGTCTGTGTGTGCATGTG TTTTGGTGTGTGTGCACGTGTCTCTGTGTGTTCCTATCTCTGTGTGTGTA CACTGTGTGTGTACACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGT GTCTGTGTACACATGTCTTGGTGTGTGTGCCTGTGTCTCTCTGTGTGTGC ATGTGTTTTGGTGTGTGTGCACGTGTCTCTTTGTGT	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131176845	C C	CACACAAA others(1207): Show CACACAAAGAGACACGTGCACACACACCAAAACACATGCACACACAGAGA GACACAGGCACACACACCAAGACATGTGTACACAGACACATGCACACAGA GACACGTGCACACACAGACATGTGTACACACACAGTGTACACACACAGAG ATAGGAACACACAGAGACACGTGCACACACACCAAAACACATGCACACAC AGACACATTCACACACACCAAGATACATGCACACAGAGACACATGAACAC ACACCAAGACACGTGTACACATAGACACATGCACACACAGATACGTGTAT ACACAGACACATGCACACACACAGACATGTATACACACACAGAGACACAT ACACACACAGACGCATGTACTCACAGAGACACATGCACACACAGACACGT GTACAGAGATATGCACACACACAGACACGTGTACACACACCAAGAAACAT GCACACACAGAGACACATGCACACACAAACATGTGTACACGCACAGAGAT AGGCACAAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAG AGACACATGCACACACCATAACATGTGCACATACACCAAGACACATGTAC ACACAGAGATACGTGTACACACACCAAGAAACATGCACACACAGACACGT GTACACCCACAGAGATAGGCACATACAAAGAGGCACGTGCACACACACCA AAACACATGCACACACACAGAGACACATGCACACACCATAACATGTGCAC ATACACCAAGACACATGTACACACAGAGATACGTGTACACACACCAAGAA ACATGCACACACAGACACGTGTACACACACCAAGAAACATGCACACACAG AGACACATGCACACACAAACACGTGTACACCCACAGAGATAGGCACATAC AAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGACACGT GCACACACACCAAGACATGTGCACATACACCAAGACACATGTATACACAG AGATACACGTACACACACAGAGACACATGCACACACAGACATGTGTACAC ACAGAGAGATAGGCACACACAAAGAGACACGTGCACACACACCAAAACAC ATGCACACACAGAGAGACACAGGCACACACACCAAGACGTGTACACAGAC ACATGCACACAGAGACACGTGCACACACAGACATGTGTACACACACAGAG TGTACACACACAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG02145.hp2 others(4): Show HG00741.hp2 HG01884.hp1 HG02145.hp2 HG02451.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0004 a0001c0001 a0001c0015 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0015t0002 a0002c0004t0002	a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0001t0002g0201 others(4): Show a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0001t0002g0201 a0001c0001t0002g0289 a0001c0001t0022g0287 a0001c0015t0002g0323 a0002c0004t0002g0226	7	324	0.0216	1214	c.857 others(1231): Show c.857-9961_857-9960insCTCTGTGTGTGTACACTCTGTGTGTGTA CACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTGTGTACACG TCTTGGTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTGTTTTGGTGTG TGTGCACGTGTCTCTTTGTGTGTGCCTATCTCTCTGTGTGTACACATGTC TGTGTGTGCATGTGTCTCTGTGTGTGTACGTGTATCTCTGTGTATACATG TGTCTTGGTGTATGTGCACATGTCTTGGTGTGTGTGCACGTGTCTGTGTG TGTGCATGTGTTTTGGTGTGTGTGCACGTGCCTCTTTGTATGTGCCTATC TCTGTGGGTGTACACGTGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATG TTTCTTGGTGTGTGTACACGTGTCTGTGTGTGCATGTTTCTTGGTGTGTG TACACGTATCTCTGTGTGTACATGTGTCTTGGTGTATGTGCACATGTTAT GGTGTGTGCATGTGTCTCTGTGTGTGTGCATGTGTTTTGGTGTGTGTGCA CGTGCCTCTTTGTATGTGCCTATCTCTGTGGGTGTACACGTGTCTGTGTG TGCATGTTTCTTGGTGTGTGTACACGTATCTCTGTGTGTACATGTGTCTT GGTGTATGTGCACATGTTATGGTGTGTGCATGTGTCTCTGTGTGTGTGCA TGTGTTTTGGTGTGTGTGCACGTGCCTCTTTGTGCCTATCTCTGTGCGTG TACACATGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCTTGGTG TGTGTACACGTGTCTGTGTGTGTGCATATCTCTGTACACGTGTCTGTGTG TGCATGTGTCTCTGTGAGTACATGCGTCTGTGTGTGTATGTGTCTCTGTG TGTGTATACATGTCTGTGTGTGTGCATGTGTCTGTGTATACACGTATCTG TGTGTGCATGTGTCTATGTGTACACGTGTCTTGGTGTGTGTTCATGTGTC TCTGTGTGCATGTATCTTGGTGTGTGTGAATGTGTCTGTGTGTGCATGTG TTTTGGTGTGTGTGCACGTGTCTCTGTGTGTTCCTATCTCTGTGTGTGTA CACTGTGTGTGTACACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGT GTCTGTGTACACATGTCTTGGTGTGTGTGCCTGTGTCTCTCTGTGTGTGC ATGTGTTTTGGTGTGTGTGCACGTGTCTCTTTGTGT	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
THEG_chr19_356747_381026	377209	C C	CTCTGTGC others(1207): Show CTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCC CCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCGTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCGTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAG CCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	370	0.0027	1214	c.-12 others(1225): Show c.-1240_-1239insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGACGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGACGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCA CGGGGGGGGAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1184		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(1207): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	314	0.0032	1214	c.189 others(1231): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
ALDH16A1_chr19_49448225_49476050	49461540	G G	GGAGTCTG others(1208): Show GGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAAGGG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGACCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGT CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGACCTGGACTCCTGGGTC TGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02559.hp2 HG01070.hp1 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0223 a0002c0003t0002g0230 a0002c0003t0002g0223 a0002c0003t0002g0230	2	342	0.0059	1215	c.578 others(1228): Show c.578-78_578-77insAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACT CCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGG TCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGA GTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGA CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar

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