Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(1208): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCC TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCC CCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTC CTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCT GCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCC CTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTC CTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCT CCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCT CCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCC TCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0131 a0002c0005t0001g0131	1	210	0.0048	1215	c.273 others(1232): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTC CTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCC CCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCC TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCC CCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCC CTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCT GCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCC CCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCC TCCCCTCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGCCC others(1208): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	398	0.0025	1215	c.666 others(1230): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGCCC others(1208): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	398	0.0025	1215	c.666 others(1230): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1208): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	258	0.0039	1215	c.403 others(1230): Show c.403-645_403-644insCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(1208): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA TTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	290	0.0035	1215	c.-95 others(1234): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTTACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRM3_chr1_239381568_239920450	239412305	T T	TCCTCCCT others(1208): Show TCCTCCCTTCCTTCCCCCACCTCTTTCCTCCCTCCCTGTCTTCCCTTCCT CTTCCCCATTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCAT CTCTTCTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCT CCCTTCCTGCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTTCCTGCC TCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCC TGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTT CCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTTCCTCCC TCCCTTCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTT CCTGCCTCCCTCCCTTCCTGCCTCCCTTCCTGCCTCCCTCCCTCCCTCCC TCCCTTCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTTCC TGCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTTCCTCCCTC CTTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCC TTCCTGCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTC CCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTT CCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTTCCTGCCTC CCTCCCTTCCTGCCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0018 a0001c0001t0033g0018	1	116	0.0086	1215	c.-52 others(1236): Show c.-521+25090_-521+25091insCCCCCACCTCTTTCCTCCCTCCCT GTCTTCCCTTCCTCTTCCCCATTCCCTTCCCTTCCCTTCCCTTCCCTCCC CTCCCCTCCCCATCTCTTCTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCC TTCCTGCCTCCCTCCCTTCCTGCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCC CTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTGC CTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT GCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCT CCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTTCCTGCCTCC CTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCT CCCTTCCTGCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCC CTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCT CCCTTCCTCCCTCCTTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTGC CTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCC CTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTGCCTCCCTCCCTCCCT CCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGTGG others(1208): Show GGGAGTGGGGAGGAGGGGGAGCTGGGGAGTGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGAGCTGGGGAGGGGGGAGGCGGGGAGCAGGGGAGGGGGGAGG CGGGGAGCAGGGGAGGGGGGAGGCGGGGGAGCAGGGGAGGGGGGAGGCGG GGGAGCAGGGGAGGGGGGAGGCGGGGAGCAGGGGAGGGGGGAGGCGGGGA GCAGGGGAGGGGGGAGGCGGGGAGCAGGGGAGGGGGGAGGCGGGGAGCAG GGGAGGGGGGAGGCGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG AGGAGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGA GCTGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAG GGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCAGGGTAGGGGGGAGGAGGGGGAGCAGGGTAGGGGG GAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAG GAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGG AGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGG GGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGA AGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0144 a0001c0004t0005g0144	1	168	0.0060	1215	c.-26 others(1224): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCT CCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCAG CTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTACCCTGCTCCCCCT CCTCCCCCCTACCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCC CCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGC TCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCCTGCTCCCCTC CTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCGCCTCCCCCCTCCCCTGCTCCCCGCCTCCCCCCT CCCCTGCTCCCCGCCTCCCCCCTCCCCTGCTCCCCGCCTCCCCCCTCCCC TGCTCCCCGCCTCCCCCCTCCCCTGCTCCCCCGCCTCCCCCCTCCCCTGC TCCCCCGCCTCCCCCCTCCCCTGCTCCCCGCCTCCCCCCTCCCCTGCTCC CCGCCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTC CTCCCCCCTCCCCTGCTCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC ACTCCCCAGCTCCCCCTCCTCCCCACTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1208): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGC GGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAAT ATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTG GGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAG ATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGG GGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAG TGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATA TGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCA GGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGT AGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGG GTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19011.hp2 NA19057.hp2 others(1): Show NA18747.hp1 NA19011.hp2 NA19057.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0017 a0002c0041 a0001c0002 a0002c0017 a0002c0041	a0001c0002t0004 a0001c0002t0056 a0002c0017t0003 others(1): Show a0001c0002t0004 a0001c0002t0056 a0002c0017t0003 a0002c0041t0002	a0001c0002t0004g0015 a0001c0002t0056g0162 a0002c0017t0003g0163 others(1): Show a0001c0002t0004g0015 a0001c0002t0056g0162 a0002c0017t0003g0163 a0002c0041t0002g0164	4	272	0.0147	1215	c.109 others(1234): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG TGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAG TATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATA ATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGT AGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACT TTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATAT GGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGG GGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATA GATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CTU2_chr16_88701503_88720396	88713235	G G	GACCCCCA others(1208): Show GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCCAC TCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATGCC CCTGAGAGCCTCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAACCCGAGAGCCCCC CTTCCCCGGGTCCTGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0137 a0003c0004t0002g0137	1	418	0.0024	1215	c.738 others(1228): Show c.738-41_738-40insCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CCTTCCCCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCG AGAGCCCTCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCTTACCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCAGGCCCTGACCCCCACTCATGCCCCTGAGAGCCTCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC TGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATAACCCGAGAGCCCCCCTTCCCCGGGTCCTGCACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGG	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DLGAP2_chr8_732628_1713476	802065	C C	CCCTCCTG others(1208): Show CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTC CTGGGTCCTCTGTCCTCACAGCCTGAGGAACAGTCCGCACCCCTCCTGGG CCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGCCCTC CATCCTCACGGCCTGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCC TCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAA TGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTC CGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCAC TCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGG TCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTC CATCCTCACGGCCTGGGGAATGGTCCGCACACCTCCTGGGCCCTCCGTCC TCACGGCCTGGGGAACGGTCCACACACCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTG GGGAATGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAA TGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTC CGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCAC CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACTCCTC CTGGGTCCTCTGTCCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTGGG CCCTCCATCCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTC CGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCC TCACGGCCTGAGGAGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAATGGTCCACACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	1215	c.18+ others(1232): Show c.18+64274_18+64275insCGGTCTGCACCCCTCCTGGGTCCTCTGT CCTCACAGCCTGAGGAACAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCA CGGCCTGGGGAATGGTCCGCACTCCTCCTGGGCCCTCCATCCTCACGGCC TGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGG AATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGG TCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGC ACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCC TCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACTCCTCCTG GGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCC TCCGTCCTCACGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCCTCCGT CCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCA CGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTCCATCCTCACGGCC TGGGGAATGGTCCGCACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGG AACGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGG TCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGC ACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACTCC TCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTG GGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCC TCCGTCCTCACGGCCTGGGGAACGGTCTGCACTCCTCCTGGGTCCTCTGT CCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTGGGCCCTCCATCCTCA CGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCC TGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGAGG AGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAG TCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCAC ACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	802065	C C	CCCTCCTG others(1208): Show CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTC CTGGGTCCTCTGTCCTCACAGCCTGAGGAACAGTCCGCACCCCTCCTGGG CCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGCCCTC CATCCTCACGGCCTGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCC TCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAA TGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTC CGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCAC TCCTCCTGGGTCCTCTGTCCTCACGGCCTGGGGAATGGTCCGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGG TCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTC CATCCTCACGGCCTGGGGAATGGTCCGCACACCTCCTGGGCCCTCCGTCC TCACGGCCTGGGGAACGGTCCACACACCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTG GGGAATGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAA TGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTC CGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCAC CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACTCCTC CTGGGTCCTCTGTCCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTGGG CCCTCCATCCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTC CGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCC TCACGGCCTGAGGAGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAATGGTCCACACT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	1215	c.18+ others(1232): Show c.18+64274_18+64275insCGGTCTGCACCCCTCCTGGGTCCTCTGT CCTCACAGCCTGAGGAACAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCA CGGCCTGGGGAATGGTCCGCACTCCTCCTGGGCCCTCCATCCTCACGGCC TGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGG AATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGG TCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGC ACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCC TCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACTCCTCCTG GGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCC TCTGTCCTCACGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCCTCCGT CCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCA CGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTCCATCCTCACGGCC TGGGGAATGGTCCGCACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGG AACGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGG TCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGC ACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACTCC TCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTG GGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCC TCCGTCCTCACGGCCTGGGGAACGGTCTGCACTCCTCCTGGGTCCTCTGT CCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTGGGCCCTCCATCCTCA CGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCC TGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGAGG AGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAG TCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCAC ACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	802065	C C	CCCTCCTG others(1208): Show CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTC CTGGGTCCTCTGTCCTCACAGCCTGAGGAACAGTCCGCACCCCTCCTGGG CCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGCCCTC CATCCTCACGGCCTGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCC TCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAA TGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTC CGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCAC TCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGG TCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTC CATCCTCACGGCCTGGGGAATGGTCCGCACACCTCCTGGGCCCTCCGTCC TCACGGCCTGGGGAACGGTCCACACACCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTG GGGAATGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAA TGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTC CGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCAC CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACTCCTC CTGGGTCCTCTGTCCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTGGG CCCTCCATCCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTC CGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCC TCACGGCCTGAGGAGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAATGGTCCACACT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02698.hp1 HG03710.hp1 HG00639.hp1 HG02698.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0003 a0001c0002t0001 a0002c0001t0003	a0001c0002t0001g0019 a0002c0001t0003g0017 a0002c0001t0003g0022 a0001c0002t0001g0019 a0002c0001t0003g0017 a0002c0001t0003g0022	3	40	0.0750	1215	c.18+ others(1232): Show c.18+64274_18+64275insCGGTCTGCACCCCTCCTGGGTCCTCTGT CCTCACAGCCTGAGGAACAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCA CGGCCTGGGGAATGGTCCGCACTCCTCCTGGGCCCTCCATCCTCACGGCC TGGGGAATGGTCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGG AATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGG TCCACACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGC ACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCC TCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACTCCTCCTG GGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCC TCTGTCCTCATGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCCTCCGT CCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCA CGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTCCATCCTCACGGCC TGGGGAATGGTCCGCACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGG AACGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGG TCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGC ACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACTCC TCCTGGGTCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTG GGTCCTCTGTCCTCATGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCC TCCGTCCTCACGGCCTGGGGAACGGTCTGCACTCCTCCTGGGTCCTCTGT CCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTGGGCCCTCCATCCTCA CGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCC TGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGAGG AGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAG TCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCAC ACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01361.hp1 HG03209.hp1 others(1): Show HG00639.hp2 HG01361.hp1 HG03209.hp1 NA18952.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0021 a0001c0091 a0002c0003 others(1): Show a0001c0021 a0001c0091 a0002c0003 a0015c0013	a0001c0021t0001 a0001c0091t0002 a0002c0003t0003 others(1): Show a0001c0021t0001 a0001c0091t0002 a0002c0003t0003 a0015c0013t0001	a0001c0021t0001g0178 a0001c0091t0002g0021 a0002c0003t0003g0311 others(1): Show a0001c0021t0001g0178 a0001c0091t0002g0021 a0002c0003t0003g0311 a0015c0013t0001g0152	4	316	0.0127	1215	c.49 others(1226): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02293.hp2 HG00597.hp2 HG02293.hp2	a0001 a0020 a0001 a0020	a0001c0005 a0020c0035 a0001c0005 a0020c0035	a0001c0005t0001 a0020c0035t0002 a0001c0005t0001 a0020c0035t0002	a0001c0005t0001g0083 a0020c0035t0002g0051 a0001c0005t0001g0083 a0020c0035t0002g0051	2	316	0.0063	1215	c.49 others(1226): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	316	0.0032	1215	c.49 others(1226): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02145.hp1 HG02895.hp2 others(6): Show HG02129.hp1 HG02145.hp1 HG02895.hp2 HG02896.hp2 HG03654.hp1 NA18983.hp2 NA18984.hp2 NA19002.hp2 NA19010.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0014 a0031 a0046	a0001c0028 a0002c0003 a0002c0007 others(6): Show a0001c0028 a0002c0003 a0002c0007 a0003c0004 a0005c0097 a0014c0051 a0014c0111 a0031c0056 a0046c0081	a0001c0028t0012 a0002c0003t0004 a0002c0007t0003 others(6): Show a0001c0028t0012 a0002c0003t0004 a0002c0007t0003 a0003c0004t0001 a0005c0097t0002 a0014c0051t0001 a0014c0111t0001 a0031c0056t0001 a0046c0081t0001	a0001c0028t0012g0282 a0002c0003t0004g0200 a0002c0007t0003g0291 others(6): Show a0001c0028t0012g0282 a0002c0003t0004g0200 a0002c0007t0003g0291 a0003c0004t0001g0147 a0005c0097t0002g0037 a0014c0051t0001g0216 a0014c0111t0001g0238 a0031c0056t0001g0132 a0046c0081t0001g0235	9	316	0.0285	1215	c.49 others(1226): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01496.hp1 NA20905.hp1 HG01099.hp1 HG01496.hp1 NA20905.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0029 a0005c0027 a0012c0011 a0001c0029 a0005c0027 a0012c0011	a0001c0029t0001 a0005c0027t0004 a0012c0011t0001 a0001c0029t0001 a0005c0027t0004 a0012c0011t0001	a0001c0029t0001g0110 a0005c0027t0004g0195 a0012c0011t0001g0107 a0001c0029t0001g0110 a0005c0027t0004g0195 a0012c0011t0001g0107	3	316	0.0095	1215	c.49 others(1226): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCGTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0176 a0001c0009t0001g0176	1	316	0.0032	1215	c.49 others(1226): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCGTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGTT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0292 a0002c0014t0003g0292	1	316	0.0032	1215	c.49 others(1226): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGTTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01981.hp2 HG02040.hp1 others(1): Show HG01192.hp2 HG01981.hp2 HG02040.hp1 HG02132.hp2	a0002 a0062 a0002 a0062	a0002c0003 a0002c0031 a0062c0072 a0002c0003 a0002c0031 a0062c0072	a0002c0003t0001 a0002c0003t0002 a0002c0031t0002 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0031t0002 a0062c0072t0007	a0002c0003t0001g0130 a0002c0003t0002g0045 a0002c0031t0002g0076 others(1): Show a0002c0003t0001g0130 a0002c0003t0002g0045 a0002c0031t0002g0076 a0062c0072t0007g0170	4	316	0.0127	1215	c.49 others(1226): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1208): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	248	0.0040	1215	c.273 others(1234): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(1208): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCT TCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGT CGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0066 a0005c0007t0001g0066	1	384	0.0026	1215	c.215 others(1232): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGT GTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
HPCAL1_chr2_10297904_10432604	10399280	T T	TCACCATC others(1208): Show TCACCATCATCACCGCCGCCACCACCACCACCACCATCATCACCGCCGCC ACCGCCACCACCATCACCACCGCCACCACCACCACCACCACCACCACCAT CACCATCATCACCGCCGCCACCACCACCACCATCATCACCGCCGCCACCG CCACCACCGCCGCCGCCGCCACCACCGCCGCCGCCGCCGCCGCCACCGCC ACCACCATCGCCGCCGCCGCCGCCACCGCCACCACCATCACCACCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCGCCACCACCATCA CCACCATCACCGCCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCATCATCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCACCATCATCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCATCAC CACCACCATCACCATCATCACCACCACCACCACCACCATCACCACCACCA TCACCATCACCATCACCATCACCACCACCATCATCACCACCACCACCACC GCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CATCATCACCACCATCACCACCACCACCATCACCACCACCACCACCATCA CCACCACCATCACCATCATCACCGCCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCATCATCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCATCACCACCACCACCACCATCACCACCA CCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0283	1	314	0.0032	1215	c.-25 others(1232): Show c.-25+2365_-25+2366insTCATCACCGCCGCCACCACCACCACCAC CATCATCACCGCCGCCACCGCCACCACCATCACCACCGCCACCACCACCA CCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATC ATCACCGCCGCCACCGCCACCACCGCCGCCGCCGCCACCACCGCCGCCGC CGCCGCCGCCACCGCCACCACCATCGCCGCCGCCGCCGCCACCGCCACCA CCATCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCGCCACCACCATCACCACCATCACCGCCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCATC ATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAT CACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCATCA CCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACC ATCACCACCACCACCACCACCATCACCACCATCACCACCACCATCATCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA CCACCACCACCATCACCACCACCATCACCATCATCACCACCACCACCACC ACCATCACCACCACCATCACCATCACCATCACCATCACCACCACCATCAT CACCACCACCACCACCGCCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCATCATCACCACCATCACCACCACCACCATCACC ACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACCACCAC CACCATCACCACCACCATCACCACCACCACCACCATCACCACCACCATCA CCATCATCACCGCCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCATCATCACCACCATCACCA CCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACCACC ACCACCATCACCACCACCACCACCACCATCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399424	T T	TCACCACC others(1208): Show TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCATCACCACCATCATCACCACCATCACCACCGCCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCACCATCACCACCATCATC ACCACCATCACCACCGCCACCACCACCACCATCACCACCGCCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA CCACCACCATCGCCGCCACCACCACCACCATCGCCACCACCACCACCACC ATCACCACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCAC CATCGCCGCCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCATCATCACCACCACC ACCATCGCCGCCACCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCATCATCACCACCACC ACCATCGCCGCCACCACCACCACCATCGCCGCCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCGCCACCACCACCACCATCACCACCA TCACCACCACCATCATCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCACCATCATCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCACCACCATCATCACCACCATCACCACCACCACCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCACCATCATCACCAC CACCACCACCACCACCACCATCACCACCACCATCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCATCATCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCATCACCATCACCACCATCGCCGCCACCA CCACCACCATCGCCGC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19000.hp1 NA18990.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0107 a0001c0001t0002g0095 a0001c0001t0002g0107	2	314	0.0064	1215	c.-25 others(1232): Show c.-25+2521_-25+2522insCCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCATCACCACCATCATCACCACCATCACCACCG CCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCAT CATCACCACCATCACCACCGCCACCACCACCACCATCACCACCGCCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCATCACC ACCACCACCACCATCGCCGCCACCACCACCACCATCGCCACCACCACCAC CACCATCACCACCACCATCATCACCACCACCACCATCGCCGCCACCACCA CCACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCATCATCACCAC CACCACCATCGCCGCCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCATCATCACCACCACCACCATCGCCGCCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCAC CACCACCATCGCCGCCACCACCACCACCATCGCCGCCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCGCCACCACCACCACCATCACC ACCATCACCACCACCATCATCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCATCATCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCACCACCACCACCACCATCATCACCACCATCACCACCACCACCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCATCATCA CCACCACCACCACCACCACCACCATCACCACCACCATCATCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCATCACCACCATCGCCGCC ACCACCACCACCATCGCCGCCACCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834421	T T	TTGGACTC others(1208): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCCGGAGCCTGGACTTCTGGGT CTGAGGGAGGAGGGGCTGGGGACCTGGACTCCTGGGTCTGAGGGCAGAGG GGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGAGGTCTGG ACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCC TGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGAC TCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG AGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	394	0.0025	1215	c.128 others(1228): Show c.128-64_128-63insGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGGCTCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCA GGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGC CCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG GCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACC CAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGAC CTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCC CAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTC CTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCC CTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGG ACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAGACCTCAGCCCCT CCTCCCTCAGACCTAGGAGTCCAGGCCCCCAGCCCCTCTGCCCTCAGACC CAGGAGTCCAGGTCCCCAGCCCCTCCTCCCTCAGACCCAGAAGTCCAGGC TCCGGCACCTCCTCCCTCAGACCCAGGAGTCCA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(1208): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCC TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCC CCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTC CTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCT GCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCC CTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTC CTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCT CCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCT CCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCC TCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0217 a0001c0001t0217	a0001c0001t0217g0192 a0001c0001t0217g0192	1	276	0.0036	1215	c.65 others(1226): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCA GGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGG GCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGA GGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGC AGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGG AGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGG GCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGG AGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGG GCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGA GGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGG GGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGG AGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGG GCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAA GGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG03209.hp1 others(1): Show HG00639.hp2 HG01361.hp2 HG03209.hp1 NA18952.hp2	a0001 a0009 a0012 a0001 a0009 a0012	a0001c0002 a0001c0004 a0009c0059 others(1): Show a0001c0002 a0001c0004 a0009c0059 a0012c0020	a0001c0002t0001 a0001c0004t0003 a0009c0059t0003 others(1): Show a0001c0002t0001 a0001c0004t0003 a0009c0059t0003 a0012c0020t0003	a0001c0002t0001g0105 a0001c0004t0003g0193 a0009c0059t0003g0190 others(1): Show a0001c0002t0001g0105 a0001c0004t0003g0193 a0009c0059t0003g0190 a0012c0020t0003g0189	4	388	0.0103	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0009 a0009	a0009c0045 a0009c0045	a0009c0045t0001 a0009c0045t0001	a0009c0045t0001g0278 a0009c0045t0001g0278	1	388	0.0026	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0185 a0001c0004t0020g0185	1	388	0.0026	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02293.hp2 HG00597.hp1 HG02293.hp2	a0003 a0005 a0003 a0005	a0003c0007 a0005c0019 a0003c0007 a0005c0019	a0003c0007t0004 a0005c0019t0004 a0003c0007t0004 a0005c0019t0004	a0003c0007t0004g0221 a0005c0019t0004g0220 a0003c0007t0004g0221 a0005c0019t0004g0220	2	388	0.0052	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0004 a0009c0018t0004	a0009c0018t0004g0222 a0009c0018t0004g0222	1	388	0.0026	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp1 HG02145.hp2 others(12): Show HG02027.hp2 HG02129.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02886.hp1 HG02896.hp1 HG03453.hp2 HG03654.hp1 NA18983.hp1 NA18984.hp2 NA19002.hp2 NA19010.hp2 NA19063.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0009 a0012 a0018 a0046	a0001c0001 a0001c0002 a0001c0015 others(6): Show a0001c0001 a0001c0002 a0001c0015 a0003c0007 a0005c0019 a0009c0018 a0012c0020 a0018c0023 a0046c0064	a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0001c0015t0005 a0003c0007t0002 a0005c0019t0003 a0009c0018t0002 a0012c0020t0003 a0018c0023t0003 a0046c0064t0002	a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0172 others(12): Show a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0014g0007 a0001c0002t0001g0275 a0001c0002t0001g0297 a0001c0002t0001g0309 a0001c0015t0005g0317 a0003c0007t0002g0171 a0005c0019t0003g0209 a0009c0018t0002g0007 a0012c0020t0003g0211 a0018c0023t0003g0182 a0046c0064t0002g0023	15	388	0.0387	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02683.hp1 NA18945.hp1 HG01099.hp1 HG02683.hp1 NA18945.hp1	a0001 a0035 a0001 a0035	a0001c0001 a0035c0083 a0001c0001 a0035c0083	a0001c0001t0004 a0035c0083t0002 a0001c0001t0004 a0035c0083t0002	a0001c0001t0004g0034 a0035c0083t0002g0236 a0001c0001t0004g0034 a0035c0083t0002g0236	3	388	0.0077	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCGTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	388	0.0026	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCGTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	388	0.0026	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGTT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	388	0.0026	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGTTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1208): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01517.hp1 HG01981.hp1 others(2): Show HG01192.hp1 HG01517.hp1 HG01981.hp1 HG02040.hp1 HG02132.hp1	a0001 a0005 a0018 others(1): Show a0001 a0005 a0018 a0048	a0001c0002 a0005c0062 a0018c0023 others(1): Show a0001c0002 a0005c0062 a0018c0023 a0048c0066	a0001c0002t0001 a0005c0062t0003 a0018c0023t0003 others(1): Show a0001c0002t0001 a0005c0062t0003 a0018c0023t0003 a0048c0066t0003	a0001c0002t0001g0102 a0001c0002t0001g0303 a0005c0062t0003g0214 others(2): Show a0001c0002t0001g0102 a0001c0002t0001g0303 a0005c0062t0003g0214 a0018c0023t0003g0184 a0048c0066t0003g0181	5	388	0.0129	1215	c.-38 others(1234): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
LHPP_chr10_124456823_124619141	124471546	T T	TATGTATA others(1208): Show TATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATT TATATATTTATGTATATATTTATATATATTTCTATGTATTTATATATATA TTTATATGTATTTATATATATTTATATATTTATATGTATTTATATATATA TTTATATGTATTTATATATATTTATATATATATTTTATGTATTTATATAT ATTTATATATATATTTTATGTATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTACATATATTTATATATATATTTACATATATTTATATATATATTTA CATATATTTATATATATATTTACATATATTTATATATATTTACATATATT TATATATATATTTATATATATTTATATATATATATTTATATATATTTATA TTTATATATATTTATATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATATTTTTATATATA TTTATATATATATATTTTTATATATAGTTATATATATTTATATATAGTTA TATATAGTTATATATAGTTATATATAGTTATATATATATTTATATATATA TTTATATATAGTTATATATATTTATATATATATTTATATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATATTTTTATATATATTTATATATATATTTATATATATATATTTA TATATATATTTTTATATATATTTTTATATATATTTTTATATATATATTTA TATATATTTTTATATATTTATATATATATTTATATATTTATATATATATT TATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	260	0.0039	1215	c.125 others(1232): Show c.125+9559_125+9560insATGTATATTTATATATATTTATATATTT ATGTATATATTTATATATATTTATATATTTATGTATATATTTATATATAT TTCTATGTATTTATATATATATTTATATGTATTTATATATATTTATATAT TTATATGTATTTATATATATATTTATATGTATTTATATATATTTATATAT ATATTTTATGTATTTATATATATTTATATATATATTTTATGTATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATATTTATATATATTTACATATATTTATATATATATTTAC ATATATTTATATATATATTTACATATATTTATATATATATTTACATATAT TTATATATATTTACATATATTTATATATATATTTATATATATTTATATAT ATATATTTATATATATTTATATTTATATATATTTATATATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATTTATATATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTTTATATATATTTATATATATATATTTTTATATATAGTT ATATATATTTATATATAGTTATATATAGTTATATATAGTTATATATAGTT ATATATATATTTATATATATATTTATATATAGTTATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATATATTTTTATATATATTTATATAT ATATTTATATATATATATTTATATATATATTTTTATATATATTTTTATAT ATATTTTTATATATATATTTATATATATTTTTATATATTTATATATATAT TTATATATTTATATATATATTTATATATATATATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
MAEA_chr4_1284891_1345137	1317139	G G	GCAGGCCC others(1208): Show GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCG GTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGA CTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCC ACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC CGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCC CAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCG CAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGG TCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	388	0.0026	1215	c.456 others(1232): Show c.456+1574_456+1575insCGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACC CCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCC GCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAG CCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGA CTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC CCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398148	G G	GGTAGATC others(1208): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG CTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0008 a0001c0001t0000g0008	1	382	0.0026	1215	c.47 others(1226): Show c.4783_*4784insTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACTCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCGGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAGCACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4783		chr4	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTCCCCTC others(1208): Show CTCCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCCTCCCTTCCTTCCCTCCCTCCCTTC CCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCC CTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTC CCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCC CTCCCCTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCT CCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTTCCCTC CCTCCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTC CCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCT CCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTC CTTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCT TCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTT CCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0133 a0001c0001t0010g0133	1	178	0.0056	1215	c.773 others(1230): Show c.773+648_773+649insCTCCCTCCCTTCCTTCCCTTCCTTCCCTCC CTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCCTCCCTTCCT TCCCTCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCT CCCTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCC CTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCT CCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTTCCCTCC CTCCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTTCCC TCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCT CCCTCCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTCCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCT CCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCC CTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(1208): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGA GCCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0002 a0003c0042t0002	a0003c0042t0002g0073 a0003c0042t0002g0073	1	282	0.0036	1215	c.25 others(1226): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGGCTCTCGGGTATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGC CTGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGTA AGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCT CTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGA AGGAGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTC TCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGC ATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGA CCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGC TCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGG TATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88713235	G G	GACCCCCA others(1208): Show GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCCAC TCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATGCC CCTGAGAGCCTCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAACCCGAGAGCCCCC CTTCCCCGGGTCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0120 a0003c0017t0002g0120	1	282	0.0036	1215	c.23 others(1226): Show c.2369_*2370insGCAGGACCCGGGGAAGGGGGGCTCTCGGGTTATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGT ATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGG GCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGA AGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGG GTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGAGGCTCTCAGGGGCATGAGTGGGGGTCAG GGCCTGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGG GTAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGG GTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAG TGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGG GAAGGAGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGC TCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGG GCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAG GACCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGGCTCTCGGGTATGAGTGGGGGT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2102		chr16	TogoVar
PLEKHA4_chr19_48832097_48873617	48834421	T T	TTGGACTC others(1208): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCCGGAGCCTGGACTTCTGGGT CTGAGGGAGGAGGGGCTGGGGACCTGGACTCCTGGGTCTGAGGGCAGAGG GGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGAGGTCTGG ACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCC TGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGAC TCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG AGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	300	0.0033	1215	c.28 others(1226): Show c.2867_*2868insGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCTCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGG CCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCC TACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC TCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCA GGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCT CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCA GCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCT CGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCT TCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGAC CCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGG CCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCC TCCCTCAGACCTAGGAGTCCAGGCCCCCAGCCCCTCTGCCCTCAGACCCA GGAGTCCAGGTCCCCAGCCCCTCCTCCCTCAGACCCAGAAGTCCAGGCTC CGGCACCTCCTCCCTCAGACCCAGGAGTCCA	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2675		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(1208): Show ACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGACCTCCCTCCCCACGATCAATCCTCACT CAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTCACG ATCAACCCTCCCCTCAATGGCCTCCCTCCTCATGATCAACCCTCCCTCAA TGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGAT CAACCCTCCCTCAATGACCTCCCTCCCCACGATCAACCCTCACTCAACGG CCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAAGATC AAACCTCCCCTCAATGACATCCCTCCCCACGATCAACCCTCCCTCAATGA CCTCCCTCCCCACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCAAGATCAACCCTCCCTCAATGACCTCCTTCCCCATGATC AACCCTCCCTCAATGACCTCACTCACGATCAACCCTCCCCTCAATGGCCT CCCTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCACAATCAACCCT CCCCTCAATGGCCTCCTTCCCCATGATCAACCCTCACTCAATGACCTCCT TCCCCAAGATCAACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCC TCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCCCTCAATGACCTCC CTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCACAATCAACCCTC CCTCAATGACCTCCCTCACGATCAACCCTCCCCTCAGTGGCCTCCTTCCC CATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCC CACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCC CAAGATCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(19): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00733.hp1 HG01074.hp2 HG01106.hp1 HG01515.hp1 HG01975.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02155.hp1 HG04115.hp1 NA18945.hp2 NA18983.hp2 NA19005.hp2 NA19057.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0000 a0001 a0000 a0001	a0000c0017 a0001c0001 a0001c0002 others(3): Show a0000c0017 a0001c0001 a0001c0002 a0001c0013 a0001c0037 a0001c0041	a0000c0017t0001 a0001c0001t0001 a0001c0002t0001 others(4): Show a0000c0017t0001 a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 a0001c0013t0001 a0001c0037t0001 a0001c0041t0010	a0000c0017t0001g0064 a0001c0001t0001g0050 a0001c0001t0001g0110 others(19): Show a0000c0017t0001g0064 a0001c0001t0001g0050 a0001c0001t0001g0110 a0001c0002t0001g0018 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0132 a0001c0002t0001g0140 a0001c0002t0001g0203 a0001c0002t0012g0186 a0001c0013t0001g0080 a0001c0013t0001g0087 a0001c0037t0001g0202 a0001c0041t0010g0082	22	203	0.1084	1215	c.279 others(1232): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAAGGAGGCC ACTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATTG TGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGA GGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTG GGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCATGGGGAAGGAGGCCATTGAGGGGAGGGTTGATTGT GAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGG GGAGGGTTGATCGTGAGTGAGGTCATTGAGGGAGGGTTGATCATGGGGAA GGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCGTGGGGAGGGAGGTCATTGAGGGAG GGTTGATCGTGGGGAGGGATGTCATTGAGGGGAGGTTTGATCTTGGGGAG GGAGGTCATTGAGGGAGGGTTGATCATGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCCGTTGAGTGAG GGTTGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGG GAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGT TGATCATGAGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGT CATTGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAGTGAGGATTGA TCGTGGGGAGGGAGGTCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCAT TGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(1208): Show ACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGACCTCCCTCCCCACGATCAATCCTCACT CAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTCACG ATCAACCCTCCCCTCAATGGCCTCCCTCCTCATGATCAACCCTCCCTCAA TGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGAT CAACCCTCCCTCAATGACCTCCCTCCCCACGATCAACCCTCACTCAACGG CCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAAGATC AAACCTCCCCTCAATGACATCCCTCCCCACGATCAACCCTCCCTCAATGA CCTCCCTCCCCACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCAAGATTAACCCTCCCTCAATGACCTCCTTCCCCATGATC AACCCTCCCTCAATGACCTCACTCACGATCAACCCTCCCCTCAATGGCCT CCCTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCACAATCAACCCT CCCCTCAATGGCCTCCTTCCCCATGATCAACCCTCACTCAATGACCTCCT TCCCCAAGATCAACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCC TCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCCCTCAATGACCTCC CTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCACAATCAACCCTC CCTCAATGACCTCCCTCACGATCAACCCTCCCCTCAGTGGCCTCCTTCCC CATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCC CACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCC CAAGATCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	203	0.0049	1215	c.279 others(1232): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAAGGAGGCC ACTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATTG TGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGA GGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTG GGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCATGGGGAAGGAGGCCATTGAGGGGAGGGTTGATTGT GAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGG GGAGGGTTGATCGTGAGTGAGGTCATTGAGGGAGGGTTGATCATGGGGAA GGAGGTCATTGAGGGAGGGTTAATCTTGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCGTGGGGAGGGAGGTCATTGAGGGAG GGTTGATCGTGGGGAGGGATGTCATTGAGGGGAGGTTTGATCTTGGGGAG GGAGGTCATTGAGGGAGGGTTGATCATGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCCGTTGAGTGAG GGTTGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGG GAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGT TGATCATGAGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGT CATTGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAGTGAGGATTGA TCGTGGGGAGGGAGGTCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCAT TGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(1208): Show ACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGACCTCCCTCCCCACGATCAATCCTCACT CAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTCACG ATCAACCCTCCCCTCAATGGCCTCCCTCCTCATGATCAACCCTCCCTCAA TGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGAT CAACCCTCCCTCAATGACCTCCCTCCCCACGATCAACCCTCACTCAACGG CCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAAGATC AACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCCTCCCTCAATGA CCTCCCTCCCCACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCAAGATCAACCCTCCCTCAATGACCTCCTTCCCCATGATC AACCCTCCCTCAATGACCTCACTCACGATCAACCCTCCCCTCAATGGCCT CCCTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCACAATCAACCCT CCCCTCAATGGCCTCCTTCCCCATGATCAACCCTCACTCAATGACCTCCT TCCCCAAGATCAACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCC TCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCCCTCAATGACCTCC CTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCACAATCAACCCTC CCTCAATGACCTCCCTCACGATCAACCCTCCCCTCAGTGGCCTCCTTCCC CATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCC CACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCC CAAGATCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG03453.hp2 others(1): Show HG02258.hp2 HG02965.hp1 HG03453.hp2 HG03516.hp1	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0033 a0001c0011 a0003c0012 a0000c0033 a0001c0011 a0003c0012	a0000c0033t0002 a0001c0011t0001 a0003c0012t0002 a0000c0033t0002 a0001c0011t0001 a0003c0012t0002	a0000c0033t0002g0106 a0001c0011t0001g0107 a0003c0012t0002g0059 others(1): Show a0000c0033t0002g0106 a0001c0011t0001g0107 a0003c0012t0002g0059 a0003c0012t0002g0062	4	203	0.0197	1215	c.279 others(1232): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAAGGAGGCC ACTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATTG TGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGA GGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTG GGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCATGGGGAAGGAGGCCATTGAGGGGAGGGTTGATTGT GAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGG GGAGGGTTGATCGTGAGTGAGGTCATTGAGGGAGGGTTGATCATGGGGAA GGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCGTGGGGAGGGAGGTCATTGAGGGAG GGTTGATCGTGGGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAG GGAGGTCATTGAGGGAGGGTTGATCATGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCCGTTGAGTGAG GGTTGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGG GAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGT TGATCATGAGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGT CATTGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAGTGAGGATTGA TCGTGGGGAGGGAGGTCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCAT TGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(1208): Show ACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGACCTCCCTCCCCACGATCAATCCTCACT CAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCTTCACG ATCAACCCTCCCCTCAATGGCCTCCCTCCTCATGATCAACCCTCCCTCAA TGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGAT CAACCCTCCCTCAATGACCTCCCTCCCCACGATCAACCCTCACTCAACGG CCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAAGATC AACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCCTCCCTCAATGA CCTCCCTCCCCACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCAAGATCAACCCTCCCTCAATGACCTCCTTCCCCATGATC AACCCTCCCTCAATGACCTCACTCACGATCAACCCTCCCCTCAATGGCCT CCCTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCACAATCAACCCT CCCCTCAATGGCCTCCTTCCCCATGATCAACCCTCACTCAATGACCTCCT TCCCCAAGATCAACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCC TCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCCCTCAATGACCTCC CTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCACAATCAACCCTC CCTCAATGACCTCCCTCACGATCAACCCTCCCCTCAGTGGCCTCCTTCCC CATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCC CACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCC CAAGATCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0194 a0001c0004t0011g0194	1	203	0.0049	1215	c.279 others(1232): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAAGGAGGCC ACTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATTG TGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGA GGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTG GGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCATGGGGAAGGAGGCCATTGAGGGGAGGGTTGATTGT GAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGG GGAGGGTTGATCGTGAGTGAGGTCATTGAGGGAGGGTTGATCATGGGGAA GGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCGTGGGGAGGGAGGTCATTGAGGGAG GGTTGATCGTGGGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAG GGAGGTCATTGAGGGAGGGTTGATCATGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCCGTTGAGTGAG GGTTGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGG GAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGT TGATCATGAGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAAGGAGGT CATTGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAGTGAGGATTGA TCGTGGGGAGGGAGGTCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCAT TGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(1208): Show ACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCACGATCAATCCTCACT CAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTCACG ATCAACCCTCCCCTCAATGGCCTCCCTCCTCATGATCAACCCTCCCTCAA TGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGAT CAACCCTCCCTCAATGACCTCCCTCCCCACGATCAACCCTCACTCAACGG CCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAAGATC AAACCTCCCCTCAATGACATCCCTCCCCACGATCAACCCTCCCTCAATGA CCTCCCTCCCCACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCAAGATCAACCCTCCCTCAATGACCTCCTTCCCCATGATC AACCCTCCCTCAATGACCTCACTCACGATCAACCCTCCCCTCAATGGCCT CCCTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCACAATCAACCCT CCCCTCAATGGCCTCCTTCCCCATGATCAACCCTCACTCAATGACCTCCT TCCCCAAGATCAACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCC TCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCCCTCAATGACCTCC CTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCACAATCAACCCTC CCTCAATGACCTCCCTCACGATCAACCCTCCCCTCAGTGGCCTCCTTCCC CATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCC CACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCC CAAGATCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	203	0.0049	1215	c.279 others(1232): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAAGGAGGCC ACTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATTG TGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGA GGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTG GGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCATGGGGAAGGAGGCCATTGAGGGGAGGGTTGATTGT GAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGG GGAGGGTTGATCGTGAGTGAGGTCATTGAGGGAGGGTTGATCATGGGGAA GGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCGTGGGGAGGGAGGTCATTGAGGGAG GGTTGATCGTGGGGAGGGATGTCATTGAGGGGAGGTTTGATCTTGGGGAG GGAGGTCATTGAGGGAGGGTTGATCATGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCCGTTGAGTGAG GGTTGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGG GAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGT TGATCATGAGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGT CATTGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAGTGAGGATTGA TCGTGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCAT TGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(1208): Show ACTCAATGAGCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGACCTCCCTCCCCACGATCAATCCTCACT CAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTCACG ATCAACCCTCCCCTCAATGGCCTCCCTCCTCATGATCAACCCTCCCTCAA TGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGAT CAACCCTCCCTCAATGACCTCCCTCCCCACGATCAACCCTCACTCAACGG CCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAAGATC AAACCTCCCCTCAATGACATCCCTCCCCACGATCAACCCTCCCTCAATGA CCTCCCTCCCCACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATC AACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGA CCTCCTTCCCCAAGATCAACCCTCCCTCAATGACCTCCTTCCCCATGATC AACCCTCCCTCAATGACCTCACTCACGATCAACCCTCCCCTCAATGGCCT CCCTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCACAATCAACCCT CCCCTCAATGGCCTCCTTCCCCATGATCAACCCTCACTCAATGACCTCCT TCCCCAAGATCAACCCTCCCCTCAATGACATCCCTCCCCACGATCAACCC TCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCCCTCAATGACCTCC CTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCACAATCAACCCTC CCTCAATGACCTCCCTCACGATCAACCCTCCCCTCAGTGGCCTCCTTCCC CATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCC CACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCC TCAATGACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCC CAAGATCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0184 a0001c0043t0001g0184	1	203	0.0049	1215	c.279 others(1232): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAAGGAGGCC ACTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATTG TGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGA GGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTG GGGAGGGATGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCATGGGGAAGGAGGCCATTGAGGGGAGGGTTGATTGT GAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGG GGAGGGTTGATCGTGAGTGAGGTCATTGAGGGAGGGTTGATCATGGGGAA GGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCGTGGGGAGGGAGGTCATTGAGGGAG GGTTGATCGTGGGGAGGGATGTCATTGAGGGGAGGTTTGATCTTGGGGAG GGAGGTCATTGAGGGAGGGTTGATCATGGGGAAGGAGGTCATTGAGGGGA GGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAA GGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCCGTTGAGTGAG GGTTGATCGTGGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGG GAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGT TGATCATGAGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGT CATTGAGGGAGGGTTGATCATGAGGAGGGAGGTCATTGAGTGAGGATTGA TCGTGGGGAGGGAGGTCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCAT TGAGGGAGGGTTGATCATGAGGAGGGAGCTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar

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Search Results (Total: 10000 hits)