JoGo: Joint Open Genome and Omics Platform

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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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
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(735): Show ATAGATAAATATATAAATATTTATATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0192 a0001c0002t0004g0192	1	306	0.0033	742	c.130 others(761): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATATAAATA TTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(735): Show GAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAG GGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAG GGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAA AGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGG GGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGA AGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGA AGGGGAAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA CGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	242	0.0041	742	c.927 others(759): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCGTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCC TTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCCC TTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCT TCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCT TCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTC CCTTCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(735): Show GAAGGGAAGGGGAAGGGAAGGAAGGGAAGGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAA GGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAA AGGAAGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAGGAAGGGA AGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGA AGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAG GGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAGG GGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAA AGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAG GGGAAGGAAAAGGAAGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGC AAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGA GGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGG AAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	242	0.0041	742	c.927 others(759): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC TTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCT CTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCT TCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCCC TTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTC CCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTT CCCTTCCCTTCCCCTTCCCTTCCTCCTTTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCC TTCCCCTTCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTT CCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCTTCC CTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(735): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAA GGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAG GGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAG GGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAA AGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGG GGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGA AGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGA AGGGGAAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA CGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	242	0.0041	742	c.927 others(759): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCGTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCC TTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCCC TTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCT TCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCT TCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTTC CCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCC CTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(735): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGG GAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAA GTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGG GGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGC AAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGA GGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGG AAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0136 a0001c0001t0019g0136	1	242	0.0041	742	c.927 others(759): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTT CCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTT CCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCC CTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(735): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGG GAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAA GTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGG GGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGC AAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGA GGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGG AAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	242	0.0041	742	c.927 others(759): Show c.927+4528_927+4529insTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTT CCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTT CCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCC CTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144687393	C C	CGAGCACT others(735): Show CGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACT AGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTT CCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGAC CACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGTG AGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCC GTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGG CGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCC ACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGCGAGCA CTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGC GAGCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGCACTTCCCACC CCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	246	0.0041	742	c.-17 others(753): Show c.-1790_-1789insACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGC TCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGT GGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGTGG GAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCGCCGCC AGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAG TGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTG CGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTG GGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCACTGC TAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCAC GGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTG CTCACCGCTAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCG TGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGG AAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1548		chr8	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(735): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGA GCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCC CCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	742	c.36 others(753): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTC CTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(735): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGTTGG GGTGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGTGGGGTGGGGTGGGGG AAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGT GGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGTTGG GGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAGGGG TGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCCCT GGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGA GGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGGAAGGGT GTGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTG GGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGCGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGGAGGGGGTGGGGTGGGGTGGGGGAGGGGT GGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGTG GGAGGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGTGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp1 HG00597.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0029 a0001c0001t0001g0049	2	284	0.0070	742	c.712 others(759): Show c.712-2416_712-2415insTCCCACCCCACCCCACCCCCTCCCACCC CACCCCACCCCCTCCCACCCCACCCCACCCCCTCCCACCCCACCCCACCC CTCCCACCCCACCCCACCCCTCCCCCACCCCACCCCACCCCCTCCCACCC CACCCCTCCCCCACCCCACCCCCTCCCACCCCACCCCACCCCTCCCACCC CACCCCACCCGCACCCCTCCCCCACCCCACCCACACCCTTCCCCCACCCC ACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCC TCCCACCCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCC CTCCTCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCC TCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCC TCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACT CCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCTACCCA CCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCAGC CCCACCCACACCCTTCCCCCACCCCACCCCACCCCCACCCCACCCCAACC CTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACACCCTTCCCCC ACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCA CCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136803012	G G	GGGGGCCC others(735): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	398	0.0025	742	c.666 others(757): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP61_chr20_20047532_20365698	20320487	T T	TATGTGTA others(735): Show TATGTGTAATATATAATATATGTAATATATATTATATATATTATATATGC AATATATATTATATATGCAATATATATTATATATATTATATATGCAATAT ATATTATATATATTACATATGCAATATATTATATATATTACATATGCAAT ATATATTATATATATTACATATGCAATATATATTATATATATTATATATG TAATATATATTACATATGTAATATATATTATATATTACATATGTAATATA TATTATATATATTACATACTACATATATAATATATATTACATATGTAATA TATATTATATATATTACATATGTAATATATATTATATATGTAATATATAT TATATATGTAATATATATTATATATTATATATGTAATATATAATATATAT TATATATGTAATATATAATATATATTATATATGTAATATATAATATATAT TATATATAATATATATTATATGTAATATATAATATATATTATATGTAATA TATAATATATATTATATATGTAATATATATAATATATATTATATATGTAA TATATATAATATATATTATATATGTAATATATAATATATATTATATAAGT AATATATATTACATATGTAATATATATTACGTATGTAATATATATTATGT ATATTATATATGTAATATATATTATGTATATTATATATGTAATATATAAT ATATATAATATATGTAATATATATTATATATATTATATATGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03130.hp2 HG01891.hp1 HG03130.hp2	a0013 a0017 a0013 a0017	a0013c0021 a0017c0037 a0013c0021 a0017c0037	a0013c0021t0003 a0017c0037t0005 a0013c0021t0003 a0017c0037t0005	a0013c0021t0003g0046 a0017c0037t0005g0138 a0013c0021t0003g0046 a0017c0037t0005g0138	2	236	0.0085	742	c.342 others(763): Show c.3423-21342_3423-21341insGTGTAATATATAATATATGTAATA TATATTATATATATTATATATGCAATATATATTATATATGCAATATATAT TATATATATTATATATGCAATATATATTATATATATTACATATGCAATAT ATTATATATATTACATATGCAATATATATTATATATATTACATATGCAAT ATATATTATATATATTATATATGTAATATATATTACATATGTAATATATA TTATATATTACATATGTAATATATATTATATATATTACATACTACATATA TAATATATATTACATATGTAATATATATTATATATATTACATATGTAATA TATATTATATATGTAATATATATTATATATGTAATATATATTATATATTA TATATGTAATATATAATATATATTATATATGTAATATATAATATATATTA TATATGTAATATATAATATATATTATATATAATATATATTATATGTAATA TATAATATATATTATATGTAATATATAATATATATTATATATGTAATATA TATAATATATATTATATATGTAATATATATAATATATATTATATATGTAA TATATAATATATATTATATAAGTAATATATATTACATATGTAATATATAT TACGTATGTAATATATATTATGTATATTATATATGTAATATATATTATGT ATATTATATATGTAATATATAATATATATAATATATGTAATATATATTAT ATATATTATATATGTAAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(735): Show GGGAGGGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAAG GGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GAGCTGGGGAGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGG GGAGGAGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAG GGGAGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGG AGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG AGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	168	0.0060	742	c.-26 others(751): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCC CTCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCTCC CCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCT GCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTC CTCCCCCCTTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTGCTCCCCCTCCTCCCCC CCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361434	A A	AGGGGGGG others(735): Show AGGGGGGGGAGGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGAGCAGGGGAGGGGGGAAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTG GGGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGG GAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGGAGCTGGGGAGGGGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0002 a0000c0014t0002	a0000c0014t0002g0023 a0000c0014t0002g0023	1	168	0.0060	742	c.-27 others(751): Show c.-270_-269insCTCCTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTG CTCCCCCTCCTCCCCCTCCCCTGCTCCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCCCCTCCCCAGCTCCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTC CCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCC TCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCC CCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGC TCCCCCTCCTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTTCCCCCCTCCCCTGCTCCCCT CCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTC CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCCTCC CCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		86		chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(735): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACT TCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTC CTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0205 a0001c0002t0015g0205	1	270	0.0037	742	c.162 others(763): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTC CTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCT CCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCC TCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(735): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATAAATATATATAATTGTATATATATAATTTTATATAA ATATATATAATTATATATATTTATATATAAATATATATAATTTTATATAT ATAATTTTATATAAATATATATAATTATATATATTTATATATAAATATAT ATAATTTTATATATAAATATATAATTTTATATATTTATATATAAATATAT ATATAATTTATATATAAATATATAAAATTATATACAAATATATATAATTA TATATAAATATATATAATTTATATATAAATATGTATAATTTTATATATAT AAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTATA TAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAAA TATATACAAATATATATATAAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG00642.hp2 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0002 a0001c0010t0003 a0001c0003t0002 a0001c0010t0003	a0001c0003t0002g0107 a0001c0010t0003g0077 a0001c0003t0002g0107 a0001c0010t0003g0077	2	116	0.0172	742	c.56- others(759): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATAAATATATATAATTG TATATATATAATTTTATATAAATATATATAATTATATATATTTATATATA AATATATATAATTTTATATATATAATTTTATATAAATATATATAATTATA TATATTTATATATAAATATATATAATTTTATATATAAATATATAATTTTA TATATTTATATATAAATATATATATAATTTATATATAAATATATAAAATT ATATACAAATATATATAATTATATATAAATATATATAATTTATATATAAA TATGTATAATTTTATATATATAAATAGATATAATTTTATATATTTATTTA TATAAATTTTATATATTTATATAAATAAATATATATTTATATATAAAAAT TTATATACAAATATATATAAATATATACAAATATATATATAAATTTATAT AAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(735): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATAAATATATATAATTTTATATATATAATTTTATATAA ATATATATAATTATATATATTTATATATAAATATATATAATTTTATATAT ATAATTTTATATAAATATATATAATTATATATATTTATATATAAATATAT ATAATTTTATATATAAATATATAATTTTATATATTTATATATAAATATAT ATATAATTTATATATAAATATATAAAATTATATACAAATATATATAATTA TATATAAATATATATAATTTATATATAAATATGTATAATTTTATATATAT AAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTATA TAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAAA TATATACAAATATATATATAAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG01258.hp2 others(12): Show HG00738.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG02132.hp1 HG02451.hp2 HG02602.hp1 HG02647.hp1 HG03041.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 NA18990.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0003t0001 a0001c0003t0003 a0001c0004t0006 a0001c0006t0003 a0004c0011t0003	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0059 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0004g0042 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0002t0002g0078 a0001c0002t0004g0017 a0001c0002t0007g0112 a0001c0003t0001g0075 a0001c0003t0003g0015 a0001c0003t0003g0046 a0001c0004t0006g0068 a0001c0006t0003g0069 a0004c0011t0003g0065	15	116	0.1293	742	c.56- others(759): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATAAATATATATAATTT TATATATATAATTTTATATAAATATATATAATTATATATATTTATATATA AATATATATAATTTTATATATATAATTTTATATAAATATATATAATTATA TATATTTATATATAAATATATATAATTTTATATATAAATATATAATTTTA TATATTTATATATAAATATATATATAATTTATATATAAATATATAAAATT ATATACAAATATATATAATTATATATAAATATATATAATTTATATATAAA TATGTATAATTTTATATATATAAATAGATATAATTTTATATATTTATTTA TATAAATTTTATATATTTATATAAATAAATATATATTTATATATAAAAAT TTATATACAAATATATATAAATATATACAAATATATATATAAATTTATAT AAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(735): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATTTAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATAAATATATATAATTATATATATTTATATATAAATAT ATATAATTATATATATATAATTTTATATAAATATATATAATTATATATAT TTATATATAAATATATATAATTATATATATATAATTTTATATAAATATAT ATAATTTTATATATAAATATATAATTTTATATATTTATATATAAATATAT ATATAATTTATATATAAATATATAAAATTATATATAAATATATATAATTA TATATAAATATATATAATTTATATATAAATATGTATAATTTTATATATAT AAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTATA TAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAAA TATATACAAATATATATATAAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0091 a0001c0005t0009g0091	1	116	0.0086	742	c.56- others(759): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATTTAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATAAATATATATAATTA TATATATTTATATATAAATATATATAATTATATATATATAATTTTATATA AATATATATAATTATATATATTTATATATAAATATATATAATTATATATA TATAATTTTATATAAATATATATAATTTTATATATAAATATATAATTTTA TATATTTATATATAAATATATATATAATTTATATATAAATATATAAAATT ATATATAAATATATATAATTATATATAAATATATATAATTTATATATAAA TATGTATAATTTTATATATATAAATAGATATAATTTTATATATTTATTTA TATAAATTTTATATATTTATATAAATAAATATATATTTATATATAAAAAT TTATATACAAATATATATAAATATATACAAATATATATATAAATTTATAT AAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAG others(735): Show ATATATAGATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATAAATATATATAATTTTATATATATAATTTTATATAA ATATATATAATTATATATATTTATATATAAATATATATAATTTTATATAT ATAATTTTATATAAATATATATAATTATATATATTTATATATAAATATAT ATAATTTTATATATAAATATATAATTTTATATATTTATATATAAATATAT ATATAATTTATATATAAATATATAAAATTATATACAAATATATATAATTA TATATAAATATATATAATTTATATATAAATATGTATAATTTTATATATAT AAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTATA TAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAAA TATATACAAATATATATATAAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	116	0.0086	742	c.56- others(759): Show c.56-30706_56-30705insTATATAGATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATAAATATATATAATTT TATATATATAATTTTATATAAATATATATAATTATATATATTTATATATA AATATATATAATTTTATATATATAATTTTATATAAATATATATAATTATA TATATTTATATATAAATATATATAATTTTATATATAAATATATAATTTTA TATATTTATATATAAATATATATATAATTTATATATAAATATATAAAATT ATATACAAATATATATAATTATATATAAATATATATAATTTATATATAAA TATGTATAATTTTATATATATAAATAGATATAATTTTATATATTTATTTA TATAAATTTTATATATTTATATAAATAAATATATATTTATATATAAAAAT TTATATACAAATATATATAAATATATACAAATATATATATAAATTTATAT AAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56097756	T T	TATATATA others(735): Show TATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATATAAATATA TATAAAAATATATATAAATATAAATATATATATAAATATATACAAATATA TATATAAATATATATAAATATAAATATATACAAATATATATATAAATATA TATAAATATAAATATATACAAATATATATAAATATATATAAATATAAATA TATACAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATGTAAATATATATAAATA TATGTAAATATATATGTAAATATATATAAATATATGTAAATATATATATA AATATATGTAAATATATATGTAAATATATGTAAATATATATGTAAATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATATA AATATATATAAATATATATAAATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0203 a0003c0005t0007g0203	1	264	0.0038	742	c.181 others(761): Show c.1812+3715_1812+3716insTTATATATATATTTATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTACATATATATTTACATATATTTACAT ATATATTTACATATATTTATATATATATTTACATATATTTATATATATTT ACATATATATTTACATATATTTATATATATTTACATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATTTGTATATATTTATATTTATATATATTTATATATATTTGT ATATATTTATATTTATATATATTTATATATATATTTGTATATATTTATAT TTATATATATTTATATATATATTTGTATATATTTATATATATATTTATAT TTATATATATTTTTATATATATTTATATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATTTATATATATTTATAT ATATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSF2RA_chrX_1263814_1314935	1298296	C C	CTCTCCTA others(735): Show CTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGT CCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACC CTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGG CGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGA CCCCTGGCGGAACCGTACAGTCCCCCTACTCACGACCCCTACACTCTCCT ACCCATGACCCCTGGCGGAACCGTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCCCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACC CTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGG CGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGA CCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	159	0.0063	742	c.811 others(759): Show c.811-2139_811-2138insCTCTCCTACCCATGACCCCTGGCGGAAC CCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTG GCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATG ACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCT ACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGCGGAACCGTACAGTCCCCCTACTCACGA CCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCGTACAGTCCCCTA CTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAG TCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGGCGGAAC CCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTG GCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATG ACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCT ACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACA CTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCDC2C_chr2_3698575_3853008	3725555	C C	CGGTGGAT others(735): Show CGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGA TCCCGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAG ACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCA GAGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGA TGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGA GGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCA GAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGTG AGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAG GTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0177 a0001c0005t0008g0177	1	324	0.0031	742	c.340 others(759): Show c.340-1439_340-1438insTGGAGGGAGACCGCCAGAGTGACGAGGA TGGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGA GGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCA GAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTG AGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAG GTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGA GGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGAT GAGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGAC GAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGC TGCCAGGTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	977908	C C	CTGGGTTC others(735): Show CTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAG AGGGTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGT GAGGGGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGC AGTGAGGTGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGA TGCAGTGAGGTGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGTGTCGG GGATGCAGTGAGGGGCTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCGT CGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGACGTGGGGAGGG CGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGTTGTGGGGA GGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGTTGTGG GGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTGGTGTTG TGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTTTGGTG TTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTTTG GTGTTGTGGGGAGGGTGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCT TTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGG TCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	742	c.73+ others(759): Show c.73+69944_73+69945insGGTTCTGGTCTTTGGTGTTGTGGGGAGG GCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGACGTGGGG AGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTGGTGTTGTG GGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTTTGGTGTT GTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTTTGGT GTTGTGGGGAGGGTGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTT GGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTC TTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTG GTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTT CTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGG GTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGC TGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGG TGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGTGTCGGGGATGCAGTG AGGGGCTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCA GTGAGAGGGTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGAT GCAGTGAGAGGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716060	G G	GGGGGAGG others(735): Show GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGTCGTGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGT CGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	170	0.0059	742	c.86- others(755): Show c.86-562_86-561insAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAG GAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXD3_chr9_137301896_137428162	137355563	G G	GGAGGATG others(735): Show GGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGGAGGAT GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGG AAGGAGGAAGGAGAAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAA GGGAGGAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0068 a0003c0003t0001g0068	1	82	0.0122	742	c.757 others(757): Show c.757+704_757+705insTTCCTCCATCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTT CCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTT TCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCAT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTT CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTC CTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTC CTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CCTTTCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCT TCCTCCATCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(735): Show TATATATAAATATATAAATATATAAATAAAAATATATAAAAATATATACA TATATAAATATAAATATATAATATATAAATATATAAATATATAAATATAT AAATATAAATATATAAAAATATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATATAAATATATATAAATATATAAATATATAAAT ATATAAAAATATATAAATATATAAATATATAAAAATATATAAATACATAA ATATATAAATATATAAATATATAAATATATATACATAAATATATAAATAT ATAAATATATAAATATATAAATATATAAATACATAATATATAAATATAAA ATATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAA ATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATATA TATAAAAATATATAAATATATATAAAAATATATAAATATATATTATATAT AAATATATAATATATAAATATATATAAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATACAATATATAAATATATATAAATATATATAATATATAAATA TATATAAATATATACAATATATAAATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	344	0.0029	742	c.617 others(759): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTTATATATATTT ATATATTATATATTTATATATAATATATATTTATATATTTTTATATATAT TTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTT TATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTT ATATATTATATATATTTTATATTTATATATTATGTATTTATATATTTATA TATTTATATATTTATATATTTATATATTTATGTATATATATTTATATATT TATATATTTATATATTTATGTATTTATATATTTTTATATATTTATATATT TATATATTTTTATATATTTATATATTTATATATTTATATATATTTATATA TATTTATATATTTTTATATATTTATATATTTTTATATATTTATATATTTT TATATATTTATATTTATATATTTATATATTTATATATTTATATATTATAT ATTTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATTT ATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FMN2_chr1_240086883_240480187	240184948	T T	TCCCCCTT others(735): Show TCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACC TGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0117 a0003c0117	a0003c0117t0001 a0003c0117t0001	a0003c0117t0001g0166 a0003c0117t0001g0166	1	174	0.0058	742	c.193 others(761): Show c.1931-3255_1931-3254insCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTC TCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTA TACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(735): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCCTTTCC CCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCCTTTCCCCCC TCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCC CCTCTCCCTCCCTCCCCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCC CTCTCCCTCCCTCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCC CTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCC CCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCT CTCTCTCCCTCCCCCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCC TCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCT TCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCC TCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCCCCCCTCTCTCCCC CCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCA CCTCCTTCTCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCC TCTCCCCCCTCCCCCTCTCCCTCTCCCCCTCCCTCTTTCCCCCCTTTCCT TCCTCCCCTCTCTCCCACCCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	230	0.0044	742	c.126 others(759): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAGA GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAG AGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAG GGGAAGAGGGGGAGGGGGGAGAGAGGGGGGGGAGAGAGGGCAGGGGGAGA GAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGG GGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAG GGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAA GGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAG AGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGA GGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAG GGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGG GGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAGAGA GGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGG AGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGGGGAGGGAG AGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GPIHBP1_chr8_143208218_143222170	143218186	C C	CCCCAACA others(735): Show CCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCC AACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACC ACCCCCACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCAAC ACCATCCCCCACACCACCCCCAACACCACCCAACACCACCCCACACCACC CCCACACCACCCAACACCGCCCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACAC CATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCAC CCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCAACACCACCCCACACCACCCCCAACACCACC CCCACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCCA ACACCACCCCCCACACCACCCCCAACACCACCCCCACACCACCCCCAACA CCACCCCAACACCACCCCACACCACCCCCAACACCACCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	742	c.26 others(753): Show c.2668_*2669insCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCACC CCAACACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCAACA CCACCCCACACCACCCCCACACCACCCAACACCGCCCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAA CACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACACCAC CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCACACC ACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCCACACCACCC CCAACACCACCCCCAACACCACCCCCCACACCACCCCCAACACCACCCCC ACACCACCCCCAACACCACCCCAACACCACCCCACACCACCCCCAACACC ACCCCCAA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1017		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(735): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TGAATATATATATTTATATATATATATAAATATATATATATATATTTATA TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATTTA TATATAAATATATATATAAATATATATATTTATATATAAATATATATATT TATATATATATTTATATATAAATATATATATTTATATATAAATATATATA TTTATATATAAATATATATATTTATATATATAAATATATATATTTATATA TATAAATATATATATATTTATATTTACAAATATATATATTTATATATATA TTTATATTTATATATATTTATATTTATATATATATATATAAATATATATT TATGTATATTTATATATAAATATATATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0000 a0000	a0000c0013 a0000c0013	a0000c0013t0050 a0000c0013t0050	a0000c0013t0050g0139 a0000c0013t0050g0139	1	208	0.0048	742	c.-97 others(759): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATGAATATATATATTTATATATATATATAAATATATATATATAT ATTTATATATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATTTATATATAAATATATATATAAATATATATATTTATATATAAATAT ATATATTTATATATATATTTATATATAAATATATATATTTATATATAAAT ATATATATTTATATATAAATATATATATTTATATATATAAATATATATAT TTATATATATAAATATATATATATTTATATTTACAAATATATATATTTAT ATATATATTTATATTTATATATATTTATATTTATATATATATATATAAAT ATATATTTATGTATATTTATATATAAATATATATATATATTTATATATAA ATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(735): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATATA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0102 a0001c0003t0026g0102	1	208	0.0048	742	c.-97 others(759): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATATATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCACATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	322505	A A	AAAAAAAA others(735): Show AAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGC CAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAA AAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTT TGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAA AAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTG TGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGG AGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAA AAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	155	0.0065	742	c.-37 others(753): Show c.-3719_-3718insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATG CTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGA GCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTC TTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTG CCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCG TCCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTT TTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCT TTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3710		chrX	TogoVar
GTPBP6_chrX_299759_323796	322506	A A	AAAAAAAA others(735): Show AAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGC CAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAA AAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTT TGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAA AAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	155	0.0065	742	c.-37 others(753): Show c.-3720_-3719insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTG GCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCA GCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTT TTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATG CTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGA GCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTC TTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTG CCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCG TCCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTT TTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCT TTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3711		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(735): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATATGGAATGTGTATATATGGAATATATATATGGAATGTGTATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	323	0.0031	742	c.-21 others(753): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATATGGAATGTGTATATATGGAATATATATAT GGAATGTGTATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(735): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0147 a0001c0001t0007g0147	1	323	0.0031	742	c.-21 others(753): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
KREMEN1_chr22_29068035_29151820	29120451	G G	GGGAGGAG others(735): Show GGGAGGAGGGAGAGGTGATGATGGAACAGGGAGGAGGAGAGGTGATGATG GAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTG ATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGTGGAGGAGG GGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACA GGAGGAAGGAGAGGTGATGATGGAAACCGGGAGGAGGGAGAGGTGATGAT GGAAACAGGGACGGAGGGAGAGGTGTTGATGGAAACAGGGAGGAAGGAGA GGTGATGAACGGCAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG GAGGGAGAGGTGATGATGGAAACAGGGAGGAAGGAGAGGTGATGATGGAA ACAGGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGAGAGGGAGAGGTG ATGAAGAAATGGAGGAGGGCGAGGTGATGAAGGAAACAGGGAGGAGGGAG AGGTGATGAAGGAATGGAGGAGGGGAGAGGTGATGATGAAAACAGGGAGG AGGGAGAGGTGATGAAGAAATGGAGGAGGGTAGAGGTGATGAAGGAAACA GGGAGGAGGGAGAGGTGATGAAGGAAATGGCGGAGGGAGAGGTGATGATG GAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGG TGATGCAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0052 a0003c0004t0052	a0003c0004t0052g0021 a0003c0004t0052g0021	1	368	0.0027	742	c.353 others(757): Show c.353-894_353-893insGGTGATGATGGAACAGGGAGGAGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGG AGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGTG GAGGAGGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAT GGAAACAGGAGGAAGGAGAGGTGATGATGGAAACCGGGAGGAGGGAGAGG TGATGATGGAAACAGGGACGGAGGGAGAGGTGTTGATGGAAACAGGGAGG AAGGAGAGGTGATGAACGGCAACAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGGAGGGAGAGGTGATGATGGAAACAGGGAGGAAGGAGAGGTGAT GATGGAAACAGGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGAGAGGG AGAGGTGATGAAGAAATGGAGGAGGGCGAGGTGATGAAGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAATGGAGGAGGGGAGAGGTGATGATGAAAAC AGGGAGGAGGGAGAGGTGATGAAGAAATGGAGGAGGGTAGAGGTGATGAA GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGCGGAGGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAG GGAGAGGTGATGCAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAAC GGAGGAGGGAGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(735): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGGTGATGAC GGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTG ATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGT AATGACGGTGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GATGGTGGGGGTGATGACGATGATGGTGGGGGTGATGACGGTGATGGCGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGG GGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGT GGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0165 a0004c0004t0001g0165	1	186	0.0054	742	c.956 others(759): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTC ATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCC CACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCATCACCGTCATCACCCCCCACCCCCACCGTCATCACCCCCA CATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTCC ACCCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCAC CGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCA CCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(735): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGG GGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGA GGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGG TGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATG GTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0077 a0077	a0077c0112 a0077c0112	a0077c0112t0001 a0077c0112t0001	a0077c0112t0001g0106 a0077c0112t0001g0106	1	186	0.0054	742	c.956 others(759): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCCACCCC CACCATCACCCCCACCATCATCACCCTCACCATCATCACCCCCACCATCA CCATCATCACCCCCACCATCATCACCCTCACCCCCACCCCCACCCCCACC CCCACCATCATCACCTCTACCATCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCC ATCACCGTCATCACCCCCACCATCATCGTCATCACCCCCACCATCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCACCGTCATTACCCC CACCATCATCACCCTCACCATCATCACCCCCACCCCCACCATCATCACCC CCACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTCC ACCCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCAC CGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCA CCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(735): Show TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATCCATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	284	0.0035	742	c.126 others(759): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATGGATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATGGATATATATAT ATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(735): Show ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATATATTTTTATATATATTTATATATATTTTT ATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTT ATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAG TTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATATAG TTATATATATATATTTTTATATATATAGTTATATATATATATTTTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATTTATATATATAGTTATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATTTATATATATTT ATATATGTATTTATATATATTTATATATATTTATATGTATTTATATATAT TTATATATATTTATATATATATATATAAATATATTTATATATATAAATAT AAATATTTATATATATTTATATATATTTATATATATATTTATGTATATTT ATATATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	260	0.0039	742	c.125 others(759): Show c.125+9673_125+9674insATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATATATTTTTATAT ATATTTATATATATTTTTATATATAGTTATATATATTTATATATAGTTAT ATATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTAT GTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATTTATATAT ATAGTTATATATTTATATATATTTATATATATTTATATATATATTTATAT ATTTATTTATATATATTTATATATGTATTTATATATATTTATATATATTT ATATGTATTTATATATATTTATATATATTTATATATATATATATAAATAT ATTTATATATATAAATATAAATATTTATATATATTTATATATATTTATAT ATATATTTATGTATATTTATATATATTTATATATATATTTATGTATATTT ATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(735): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAA AACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAA AACTATATATAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAATTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATGTATGTATATAAAACTATACAG TCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAG TTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATAC AGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	742	c.-30 others(753): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT CACATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGT CATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ATTATATACAGTCATATATGTATATAAAACTATATACAGTCATGTATGTA TATAAAACTATACAGTCATATATGTATATAAAACTATACAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCA TATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATG TATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(735): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAC AGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18995.hp1 NA19009.hp2 NA18961.hp2 NA18995.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	422	0.0071	742	c.-30 others(753): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATG TATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(735): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAG TTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATAC AGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	742	c.-30 others(753): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCA TATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATG TATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(735): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGG AGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAG GGTAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGG GGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGA GTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGG GAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	272	0.0037	742	c.250 others(757): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTACCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCC CTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCC CCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCC TTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTT CCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(735): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACT CAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGG GAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGAGTGGGTG GAGGGGGGATCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGA GTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02004.hp2 HG02257.hp1 HG00738.hp1 HG02004.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0029 a0001c0002 a0001c0029	a0001c0002t0005 a0001c0029t0006 a0001c0002t0005 a0001c0029t0006	a0001c0002t0005g0072 a0001c0029t0006g0070 a0001c0029t0006g0071 a0001c0002t0005g0072 a0001c0029t0006g0070 a0001c0029t0006g0071	3	324	0.0093	742	c.140 others(759): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGAT CCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCT GAGTGATCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCAGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGC ACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTG CACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCT GCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCC TGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCT GCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
ODF3L2_chr19_458361_479983	473242	G G	GGGGAAAC others(735): Show GGGGAAACTGAGGCCCAGGCAGAGATACACGGTCACAGGTGGGGAAACTG AGGCCCAGGCAGAGATACACGATCACAGATGGGGAGACTGAGGCCTGAGC CTCCCAGAGATACACGGTCACAGATGGGGAAACTGAGGGCCAGGCAGAGA TACACGGTCACAGATGGGGAGACTGAGGCCCAGGCAGAGATACACGGTCA CAGATGGGGAAACTGAGGCCCAGGCAGAGATACACAGTCACAGATGGGGA GACTGAGGCCTGAGCCTCCCAGAGATACACGGTCACAGATGGGGAGACTG AGGCCCAGGCAGAGATACATGGTCACAGATGGGGAAACTGAGGCCCAGGC AGAGATACACGATCACAGATGGGGGAGACTGGGGCCTGAGCCTCCAGAGA TACACGGTCACAGGTGGGGAAACTGAGGCCTGAGCCTCCCAGAGATACAC GGTCACAGATGGGGAGACTGAGGCCCAGGCAGAGATACACGGTCACAGAT GGGGAAACTGAGGCCCAGGCAGAGATACACGGTCACAGATGGGGAAACTG AGGCCTAGGCAGAGATACATGGTCACAGATGGGGAGACTGAGGCCCAGGC AGAGATACATGGTCACAGATGGGGAAAACTGAGGCCCAGGCAGAGATACA TGGTCACAGATGGGGAAACTGAGGCCCAGGCAGAGATACACGGTCACAGA TGGGGGAGACTGAGGCCCAGGCAGAGATACACGGTCACAGATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0085 a0002c0003t0002g0085	1	324	0.0031	742	c.128 others(757): Show c.128-742_128-741insGATCTGTGACCGTGTATCTCTGCCTGGGCC TCAGTCTCCCCCATCTGTGACCGTGTATCTCTGCCTGGGCCTCAGTTTCC CCATCTGTGACCATGTATCTCTGCCTGGGCCTCAGTTTTCCCCATCTGTG ACCATGTATCTCTGCCTGGGCCTCAGTCTCCCCATCTGTGACCATGTATC TCTGCCTAGGCCTCAGTTTCCCCATCTGTGACCGTGTATCTCTGCCTGGG CCTCAGTTTCCCCATCTGTGACCGTGTATCTCTGCCTGGGCCTCAGTCTC CCCATCTGTGACCGTGTATCTCTGGGAGGCTCAGGCCTCAGTTTCCCCAC CTGTGACCGTGTATCTCTGGAGGCTCAGGCCCCAGTCTCCCCCATCTGTG ATCGTGTATCTCTGCCTGGGCCTCAGTTTCCCCATCTGTGACCATGTATC TCTGCCTGGGCCTCAGTCTCCCCATCTGTGACCGTGTATCTCTGGGAGGC TCAGGCCTCAGTCTCCCCATCTGTGACTGTGTATCTCTGCCTGGGCCTCA GTTTCCCCATCTGTGACCGTGTATCTCTGCCTGGGCCTCAGTCTCCCCAT CTGTGACCGTGTATCTCTGCCTGGCCCTCAGTTTCCCCATCTGTGACCGT GTATCTCTGGGAGGCTCAGGCCTCAGTCTCCCCATCTGTGATCGTGTATC TCTGCCTGGGCCTCAGTTTCCCCACCTGTGACCGTGTATCTCTGCCTGGG CCTCAGTTTCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3			chr19	TogoVar
OR2T1_chr1_248398048_248413020	248408743	T T	TAGATAGC others(735): Show TAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGA CTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATT TGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGC ATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAG AGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	266	0.0038	742	c.16 others(753): Show c.1639_*1640insAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGC GGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGAT AGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGCA GATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACT GCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTG ACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCAT TTGACTGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		724		chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83950351	A A	ACACACGT others(735): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAT GCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTAC ACACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGT ACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGTACATGCACACATGAGCACATGTGCACACATGCACATACACACTGGC ACACACGTACACACACATGCACACATGATCACATGTGCACACATGCACAT ACATACCGGCACACGTACACACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	350	0.0029	742	c.-30 others(753): Show c.-3052_-3051insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACGTACATGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACGTACACACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATG CACATACACACTGGCACACACGTACACACACATGCACACATGATCACATG TGCACACATGCACATACATACCGGCACACGTACACACATGCACACATGAA CACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2888		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950351	A A	ACACACGT others(735): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAT GCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTAC ACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACACGTACATGCACACATGAGCACATGTGCACACGCACATACACACTGGC ACACACGTACACACACATGCACACATGATCACATGTGCACACATGCACAT ACATACCGGCACACGTACACACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01346.hp1 HG01517.hp2 HG00323.hp1 HG01346.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120	3	350	0.0086	742	c.-30 others(753): Show c.-3052_-3051insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACGTACATGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACG CACATACACACTGGCACACACGTACACACACATGCACACATGATCACATG TGCACACATGCACATACATACCGGCACACGTACACACATGCACACATGAA CACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2888		chr16	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(735): Show CCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCC AGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATATGGACCCCCCCCACCCACTGCCCAGATACGGACCCCC CCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCACTGCCCAGATAC GGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGC CCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATATGGACCCCCCCCACCCACTGCCCAGATACGGACCCCC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ATGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGC CCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCCCCCACCCA CTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCC CGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATATGGAC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATATGGACCCCCCCCACCCA CTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	292	0.0034	742	c.471 others(757): Show c.471+314_471+315insCCACCCACTGCCCAGATACGGACCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCAC TGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATATGGACCCCCCCCACCCACTGCCCAGATACGGACCCGGC CCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGA CCCCCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATA TGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATATGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATATGGACC CCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATA CGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383983	A A	ATGTTGTA others(735): Show ATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGT GGCGGAAGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCA CAGTGCTGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATT CACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATT CAGTGGCGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCA TTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCA TTCAGCAGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCG CATTCACGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATAT TCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGC ATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTAT ATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGC GCATTCACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGT GCATTCAGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03654.hp2 HG02698.hp2 HG03654.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0017c0031 a0002c0002 a0017c0031	a0002c0002t0001 a0017c0031t0001 a0002c0002t0001 a0017c0031t0001	a0002c0002t0001g0063 a0017c0031t0001g0064 a0002c0002t0001g0063 a0017c0031t0001g0064	2	332	0.0060	742	c.331 others(761): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar

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Search Results (Total: 8931 hits)