Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ANKRD36_chr2_97108153_97269521	97204663	ACTGTAGG others(1865): Show ACTGTAGGAGAACTAAGGAGACCCCTGGTGTAGCAACAGTTTTCCTAAGG AAGACGGATTGTGAGGCAGGAAGGTGTGAAAAGAGGAAGTCATTTATATA ATTTTGGGGTTTCTGCTGAGGAAACCTGAGTGAACTCACTTCAGATGCAT TTGGAATATTTTCATAAAAAATATTTGATTTTCGCTGCTCCAGCAACTGC TGGAAGCAGGAAACAGTGGTTGAATTGGCATAAAAACACAATAACTCATT ACTCCTCTTTGTTACTATTAGGCATCAGAGATACACGTGTTGTTGATTTT AGTTATAGAAATGAGATAAACTTGAATATGAATACATTGGCTTCTTTGTT CAAGGAGCTACCTCTTGGATAAAATAGCTGTTTAATGAAACTTCTTTAGA AAATAACATGATATTGCCAACAAGGGTATTTTAGAAACAAAAATTATGTT GCATTCCAATGAAGTCCTAGAGTGATCATTTTCAATGAATATTGGAATGA TTTCTGAATGTAAAACTTATTATTGTCTAATGGTTGTGGCAGTTTTACTT TGTAGAAATATGTCAAAATTGATAATTGATGATATTTTTATTGAGGCTAA TATATTATCCTTTGGTGCCATGAGTGGATGAAGAAACATTTGGAAGGCTA TACTAGTGGATACAAGAAAGTTAAGCAAATTATTACACCACATGGGTGTG AGAGATAATGAATATTATGTACTAGGTATCAGCAAAGAGGTATCCAAGGT GATCAATTTAGGACACTTCCACTGAAGAGATGTGAAGTGTAAGTTCAACT GAAGCATCATCGCAGTTGTGTGCCTTCTCAGTTATTGGGCATGTTAAAGA GCATGATGAATGTTTGTAGTATAATTGTGTAAATCCTATTGATTTGTTGT GTGAAAGACATGTGGGATCATGTAGCACCTGCTTTGACATTGATTCTCAG GTGTGTGAGTTGCTCCTCTGATTTTAGATCACATTTGTTCTCATCACTCG GCCTAAGCACATTGATATTGACACGGTTTTATTTTAGTTTTCGACATATG AGAAATCTTACCACGTTTGAAATTGTAAGGGTATATTTCATGGAGCCTGT ATTCCCTTTTCTCAGTGTATTTGTGTCATTTTCTAGTCCCCAGACACAAA GTAGAAGCCATCAAAGCCTATGCTAATACAGGCAGGAGGACAGAGGTTGA TGCTAACTCTGCTTGAATGTATGGATATCTTTATCATATTTACATATGAC TGATTATGAATCACTTTTGCTTTTCAGTGTCTTCTCAGAAACCACCAACC TTGAAGGTAATGAAACTCCCATTTATATTGTGAACGAGTTAATATATGGT CTATGAAACATACTTTATTTATTTATTATTTTGTTTCAAATTCCATTCAG GCTACAAGTGATGAGGAAGATTCTGTTTTGAGTATAGCCAGAGAAAACAA GGATGGAGAAAAATCTAGGACAGGTAATTCTGAAAACAGATTTAATGCCA TGTTCAGTCGAGATAGATAAGAAGTTCTCTTCCCCAAGTAAATCAGCGGG GGGCTCATCGAAGCTGCACTTTCTGATTCAGCAGGCCGGAGATTCTTCAT TTGTAGTACGTTCTTGGGTGATGCTGATGCTGCTGGTCTGGAACATGATC TTCGCTGTAAGATTATACACTTCCCCACGTTGAAGTTGGGAAGAAGATAT ATGGAGAGCAGTTGAAGACATAAGGGTCTCTGGGGAACAGCATAGTTTTG CTTTAATCCTCCAGCTTGTTTTCACTAAGGGTGGAAGGAGAAAGAGAGGA AGTATCGATTTTACAGATGTCACATCATACTGCTAAAAACAGACAGAAAA CTTGTTGTAATAACCCGTACACT	A A	exon_loss_variant exon_loss_variant	HIGH	HG03927.hp2 HG03927.hp2	a0035 a0035	a0035c0062 a0035c0062	a0035c0062t0004 a0035c0062t0004	a0035c0062t0004g0042 a0035c0062t0004g0042	1	212	0.0047	-1872	c.306 others(17): Show c.3061+436_3163+435del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	51/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(1865): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGC ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATAC CCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGG TGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	180	0.0056	-1872	c.637 others(19): Show c.637+11368_637+13239del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
ACAP3_chr1_1287391_1312930	1288275	CCCCGAGT others(1864): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0213 a0001c0007t0001g0213	1	295	0.0034	-1871	c.34 others(11): Show c.3418_*5288del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4115		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	CCCCGAGT others(1864): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0265 a0011c0023t0001g0265	1	290	0.0035	-1871	c.166 others(17): Show c.1662+243_1663-121del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
KLB_chr4_39401930_39456533	39422871	CCTGCCTC others(1860): Show CCTGCCTCAGCCTCCCGAGTAGAGTAGCTGGGACTACAGGCGCATGCCAC AATGCCTGGCTAATTTTTGTATTCTTAGTAGAGACAGGGTTTCACCATGT TGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCATCTCAG CCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCGGCCTCAG TCTAACATTGACAATGGTGTAAAGATCACCATTCACAGGGGAAGACAATC CAGCACAGGGGTGGTCCCTGAGGGATTCACTTAGCTTTTGACATCAGTGA GGAAAATAATCCAACGCTAACGTTACTGGTTTTAGGAGAGAGGTGAATCG AGAATTACATATAAATGTTACACATAGAAGCGCTGTGCTAGGCACTTGGA CAACTAATGGTTTTCTGAACACCCCAAATTTGCTGACAGGTCCTCCATGA CCTCTCTAGATGATACTGAATTCCAAAGGTATATAGATATTTTTCTCTCA ACATGCAATTGTGGAATGTAGTACCCTCATTCGAGGACTATTTAGCTCTT TTAATAACCAAGTACAGCAGAGAGAAAATGTAATTTTAAAACAATATGTC AAATGGTCTTTCCCGAATAGCTTCAAAATTTAGAACTGGCAGGACATACA GAAAGCAGGATGGTGTAATAAAGTGGGTTCAAATCCCAGCTCTGCAACTG TAAACTTCAATTTCTTTTCTAAAATGGGAAAAATAAGACTTGTCTTGCAG AAGCTGTATTATCAATAAGGTACGTCAAGTAACCAACAAACTAGCTGATC CATAATAGGCATTCATTCAACAAATATTCTAGGCCAGGCCCTCCCCTGGG CATCTGTGTGGACAACTGTGAACACAATAAATATAGTCAGTCTCTGCCCT CAAGAAGCTAATAGACCTGGTGTGGAGCCACACTGCACGAGCCTGAGACT TTTACAATAGTGGGGAAGGATCTTTTTTTTAAAATAAAAAAAATTTTAAA GGGAGACAAAAATCAGTACAAAAGTAAATATCTGGCCAGGTACAGTAGCT CAGGCACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGTTTGAGACCAG CCTGGGCAACATAGTGAGACCCTGTCTCTGCAAAAATAAATAAATGAGCA TTTATTTAGAATGAGAAAAACATCACAATAAATTATGATAGTTATTTTTT GTTTTTGTTTTTGTTTTTGAGACAGGTCTCATTCTGTCACCCAAGCTGGA GTGCAGTGGCACAATCACGGCTCATTGCAGCCTCAACCTCCGTGGGCTCA GGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACA CCACCATACCCAGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTTGCC ATGTTGGCCAGGCCGGTCTCGAACTCCTGGGCTCAAGTGATCCACCAGCC TTGGCTTCCCAAAGTGCTGGGATTACAGACATGAGCTACCACGCCTAGCA CAATAAATTACTATAGCCTTAGAGTCCTTTTTTTCTAAAGTCTCTTTAGG GAATTTGCAAGAACTGCTCACCTAGAAATGCTTCCAATTGCAACTAGGCT CCCTGACCCACCCAGGGCATTTCTAGGGACGTAGGTAAGCAAGGCGACCT GAAGCTAAAGCTTCATTAGGCTCACAGTAAATCTGGCTTTGCTGCAGGCT CTACACGTGATGGCCCTTGTTTTTATTATTATAATAATTTGTAATCTCCA TGGTGGTTTCTTTTTCTTTTTCTTTTTTTGAGATGGAGCTTCGCACTGTT GCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAACCTTTGCA TCCCGGGTTCAAGCGATT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02630.hp1 others(3): Show HG02109.hp1 HG02451.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0105 a0001c0002t0004g0106 a0001c0002t0004g0107 others(3): Show a0001c0002t0004g0105 a0001c0002t0004g0106 a0001c0002t0004g0107 a0001c0002t0004g0108 a0001c0002t0004g0110 a0001c0002t0012g0109	6	380	0.0158	-1867	c.826 others(18): Show c.826-11335_826-9469del		KLB	ENSG00000134962.7	transcript	ENST00000257408.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD36_chr2_97108153_97269521	97207905	TTTATTAT others(1859): Show TTTATTATTTCATTTGAAATTCCATTCAGGCTACAAGTGCCGAGAAAGAT TCTGTTTTGAATATAGCCAGAGGAAAAAAGTATGGAGAAAAAACTAAGAG AGGTAATTTTGAAAAGAGATTTAATGTCATGTTCAGTGCAGATAGATAAG AAGTTCTCTTCCCTGAATAAATCAGCGGGGGGCTCGTTGAAGCTGCACAT TCTGATTCAGCAGTCCTGAGATTCTTCATTTCAAATAAGTTCTTGGGTGA TGCTGATGCTGCTGGTCTGGAACATGATCTTCGCAGTAAGATTATACACT TCCCCACATTGAAATTGGGAAGAAGAATTATGGAGAGCAGTTCAAGGCAT AAGGGGCTCTGGGGAACAACATAATTTTGCTTTAATTCTCCAGCTTGTTT TCAGTAAGGGTGGAAGGAGAAAGAGAGGAAGTATAGAATTTACACACTTC AGCTCGTACTGCCAAGAAAAGACAGAAAGCTTGTTGTAACAACCCGTAGA CACTGTGGGAGAACTAAGGAGACCCCTGGTGTAGCAACAGTTTTCCTAAG GAAGACGGATTGTGAGGCAGGAAGGTGTGAAAAGAGGAAGTCATTTATAT AATTTTGGAGTTTCTGCTGAGGAAACCTGAGTGAACTCACTTCAGATGCA TTTGGAATATTTTCATAAAAAATATTTGCTTTTAGCTGCTCCAGGAACTA CTGGAAGCAGGAAACAGTGGTATAATTGGAATACACCACACTGACCCATT ACTCCTCTTGGTTACTAGGAGGCATCAGAGATACATGTTTTGTTGATTTT AGTTATAAAAATGAGATAATCTTGAATGTGAATAAATTTGCTTCCTTGTT CAAGGAGCTACCTCGTGGATAAAATAGCTATTTAATGTAACTTCTTTAGA GAATAACACGATACTCCCAACCAGACTATTTTAGACACAAGAATGATGTT GAATTCTAATTAACTCCTAAAATAGTCATTTTCAATGAATATTGCAGTGA TTTCTGAATGAAAAGCTGATTAATATCTAATGCTTGTAGCCATTTTACTT TGTAGACGTATGTCAAAGTTGATAATTGATGATATTTTTATTGAGGCTAA TATATTATCCTTTGGTGCCAAGAGTGGATGAAGAAGCTTTCGGAAGGCTA AACTAGTGGATACAAGAAACTTAGGCAAATTATTACACTACATGGGTGTG AAAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCAAGGT GATCAATTCAGGACACTTCCACTGAAGAGATGTGAAGTGTACTTTCAACT GGAGTGTCATTGTAATTGTGTGCCTTCTCATTTATTGGGCAAGTTAAAGA GCATGAAGAATGTTTGTAGTATAATGGTGTAAATCCTTTTGATTTGTTGC ATGAAAGACATATGGGATCATGTAGCACCTGTTTTGACATTGATTCTCAC GTATATGAGTTGTTCCTCTGATTTTAGATCACATTTGTCCTCATCACTCG GCATATCCACATTGAGATTGACACGGTTTTATTTTAGTTTTTGACACGTG ACAAATCATATAATGTTTGAAATTGTAAGGGTATATTTCATGGAGCCTGT GTTCCCTTTTTCAGTGTATTTCTGTCATGTTCTGATCCCCAGACACAAAG TAGAAGCCATCAAAGCCTCCACTAATACAGGCAGGAGGACAGAGGTTGAT GCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATGTGAGT GATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCGGAAAAAACCAGCCT TGAAGGTAATGAAACTCTCATTCATATTGTGAGCTAGTAAACGTATAGCC TATGAAAGATACCTTAC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show HG00099.hp1 HG00423.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01981.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG06807.hp1 NA18945.hp1 NA18951.hp1 NA18961.hp1 NA18991.hp2 NA19030.hp2 NA19068.hp1 NA19072.hp1 NA20129.hp1 NA20129.hp2	a0002 a0004 a0011 others(7): Show a0002 a0004 a0011 a0018 a0020 a0021 a0030 a0035 a0043 a0044	a0002c0002 a0004c0005 a0004c0024 others(8): Show a0002c0002 a0004c0005 a0004c0024 a0011c0011 a0018c0018 a0020c0022 a0021c0021 a0030c0052 a0035c0062 a0043c0039 a0044c0038	a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 others(11): Show a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0011c0011t0002 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0030c0052t0002 a0035c0062t0004 a0043c0039t0001 a0044c0038t0001	a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 others(46): Show a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0030c0052t0002g0128 a0035c0062t0004g0042 a0043c0039t0001g0008 a0044c0038t0001g0067	49	212	0.2311	-1866	c.319 others(15): Show c.3193-14_3295-15del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	54/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
IL3RA_chrX_1331785_1387689	1370590	GGTCTCCA others(1859): Show GGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGAT GGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAGAGAGG GACGACCCTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCCAGGAG AGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCC AGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCA GCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATA AGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGAGG ACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGG AACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGT GGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTG TGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGAC ACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGC GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACAC CTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGG ACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGA GGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCA GCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAG CCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAA GAAGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGAC ACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAA CCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGG GAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTG ACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGA CACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGG GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACAC CTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGA GGGACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGG AGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCT CCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCC CAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCA TAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGG CACAGGGAGAAGACGGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0014 a0014	a0014c0006 a0014c0006	a0014c0006t0002 a0014c0006t0002	a0014c0006t0002g0043 a0014c0006t0002g0043	1	115	0.0087	-1866	c.874 others(17): Show c.874+5532_875-6010del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1372962	CCTGCCCA others(1858): Show CCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAA TCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGC AGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAG ACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTC CAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGA TCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTT CTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTA AGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGAC GACCCTGTGGGACACAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCT CAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCA GGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGG TATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGG ACATGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGG AGAAGACGGCGTCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCC TTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAAT CAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCA GCCTGAGATGGACTAAGACACCTCATAAGAAGAGGAGATGAGGACACAGA CACACACGGAGGAACAACCCTGTGAGGACACAGGGAGAAGACGGCATCTC CAAGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGA TCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTT CTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAAACGGACTA AGACATCCCATAAAAAGGAGATGAGGACACAGACACACACGGAGGGACGA CCCTGTGGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGC CTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTC CAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCT GGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGA GACGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGCACAGGGA GAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCAC TGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATC AATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAG CCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGAC ACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCC AAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGAT CTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTC TAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAA GCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACC CTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCC TCAGGAGGAACCAGCA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	115	0.0087	-1865	c.875 others(17): Show c.875-5579_875-3715del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1370189	CCTCCAGC others(1856): Show CCTCCAGCCTCCAGGGCTGTGGGAGAATCAGTGTTTTGTTTCTAAGCCGC CCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTC ATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGG GCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGG AACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGT GGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTG TGACAGCAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAG GACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACG GGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCAC ACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGT TTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGA TGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAGAGAG GGACGACCCTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCCAGGA GAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTC CAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCC AGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCAT AAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGAG GACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAG GAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTG TGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCT GTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGA CACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGG CGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGAT GGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGG GACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAG AGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCC AGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCA GCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATA AGAAGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGA CACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGA ACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTG GGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGT GACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGG ACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGG GGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACA CCTGGATCTCAGAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	115	0.0087	-1863	c.874 others(17): Show c.874+4967_875-6578del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1373856	CATCTCCA others(1856): Show CATCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCCCTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAAAC GGACTAAGACATCCCATAAAAAGGAGATGAGGACACAGACACACACGGAG GGACGACCCTGTGGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAG AGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCC AGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCA GCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATA AGAAGAGACGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGCA CAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAAC CAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGG AGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGA CAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGAC ACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGC GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACAC CTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGG ACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGA GGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCA GCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAG CCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAA GAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCAC AGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAGGACA CAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGA AGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACAC AGGGAGAAGACGGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG02451.hp1 others(1): Show HG01069.hp1 HG01070.hp1 HG02451.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0085 a0001c0001t0006g0086 others(1): Show a0001c0001t0006g0078 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0100	4	115	0.0348	-1863	c.875 others(17): Show c.875-4802_875-2940del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11						chrX	TogoVar
AK3_chr9_4704556_4746202	4734954	CAAAAGAG others(1855): Show CAAAAGAGACAGGAGGTGAGTTGGTGTTGCCAGAGGCTCAGGTGGAGGGG TGTGGGGTAGGAACAGAAGTGACGGCTAATAGGTATGAAGTTTCTTTTAT GGGGTGATGGGTATGTTCTAAAATTGATTATTAAAGAAAAAATATTAATT TTTTAAAAGGTTGGGCACTGTGGCTCATGCCTGTAATCCCAACACCTTGA GAGGCTAAAGAGGGGAGGATTACTTGAGGCTAGGAGTTCATGACAAGCCT GGACCAACATGGTGAGACCCCATATATATATATACATATATAAATATATA TATATATAAATATATATATAAATATATATACATATATAAATATATATATA CATATATAAATATATATATACATATATAAATATATATATACATATATAAA TATATATATACATATATAAATATATATACATATATAAATATATATACATA TATAAATATATATACATATATAAATATATATATACATATATAAATATATA CATAGTATATGTGTATATATATATATTTTTTTTTTTTTTTTGGAAACAGA GTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCAA TGCAACCTCCGCCTCCTGGGCTTAAGCCATTCTCCTGCCTCAGCTTCCCA ACAGGTGCCCGCCACCATACCCAACTAATTTTATTTTGTATTGTTAGTAG AGACGGGGTCTCACCATGTTGACCAGGCTGATCCCAAACCCCTGACCTCA AATGATCCACCTTCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAG CCACCATGCCTGGCCAAAAAAATATTTTAAAAAGAAAAAAATTTTAAAAG AAAAAATATATTAATTTAAAATTGATGAAGGCCAGGTGCAGTAGCTCACG CCTGTAATCCCAGAACTTTGAGAAGCCGAGGTGGGTGGATCACTTGAGGT AGGAAGTTCGAGACCAGCCCGGCTAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTGGCTCACAGCTGTAATCCCAGCT ACTCAGGAGGCTGAGGCAGGAGAAGCACTTGAACGTGGGAGGCGGAGGTT ACAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTAGGCAACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAAAAAAAAGTTGATTTTGGTGATGTCT GCACAACTCTGTGAATATATTAAAGTCCACTGAGTTTTATACTTTAAATG GATACATTATATGGTATGTTAATTATATCTCAATAAAGCTATTAGAAAAA AATGAAATGGGGCACTCCATATGCAAAGCAGTATTGTTAAAGGTATAAAA CAGTATATACAGCATGCTATAATCTGTGTTTTAAAAAACACATACACAAA GAGAAGCATAGGTAAACATTTGATTGTATAAGCATAAAATATCTTGGAAG AATCTTTTCATGAAATATCCTTTTATATTTTTGGAATTGCCTATTACAAA TTAAATGTTTTACCATTCCAAAAAAAAAAAAAAACAACTCCGCTTTGCCA TCAGTATCATTCTAATTATGCAAGCCTATGTGCCACAGGTGTACATAATA ATGTTTTGAAGAAATATAGAATCCAGGGACTGACAGAAGTCTTGAAGATT ATCTACTACATTCATCTCCCCCATCATATAGATGAGAATAAATGAGATTC ATAAGGGTTGGCCGTCTAGTCTAGGGTTATGTCTCCTTTTTTTTTTTGAG ACAGGGTCTCACTCTGTCACTGTGAGTACTGTGGTGCTATCACAGCCCAC TGCAGCCTCGAACTCCTGAGTTCAAACAATCCTCTCGCCTCAGCCTCTCA GAGAGCTGAGACT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0067 a0001c0001t0011 a0001c0001t0067	a0001c0001t0011g0018 a0001c0001t0067g0209 a0001c0001t0011g0018 a0001c0001t0067g0209	2	462	0.0043	-1862	c.151 others(17): Show c.151+4121_151+5982del		AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4						chr9	TogoVar
IL3RA_chrX_1331785_1387689	1369881	AGGGAGAA others(1855): Show AGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAG ACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAGTGTTTTGTTTC TAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAA GCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACC CTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCC TCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCC AGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTG GTATTCTGTGACAGCAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAG GAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGG AGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCC CTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAAT CAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCA GCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACAC ACAGAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCATCTCCAA GCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCT CAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTA AGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGA CATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGAC CCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGC CTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTC CAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCT GGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGA GACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGA GAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCC TGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATC AATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAG CCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACA CACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAG CCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTC AGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAA GCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGAC ATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGACGACC CTGTGGGACACAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0016 a0016	a0016c0004 a0016c0004	a0016c0004t0007 a0016c0004t0007	a0016c0004t0007g0093 a0016c0004t0007g0093	1	115	0.0087	-1862	c.874 others(17): Show c.874+4632_874+6493del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCSK5_chr9_75885673_76367975	76304876	CATTTTAG others(1855): Show CATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCC ATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCA CAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGA AAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAA GCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGG CAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAG TTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTA TCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTC ATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCA TGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCAC AACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAA AGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAG CACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGC AGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGT TTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTAT CTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCA TTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCAT GTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACA ACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAA GTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGC ACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCA GAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTT TAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATC TCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCAT TTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATG TGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAA CAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAG TAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGTTAAGCA CTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAG AATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTT AATTACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCT CATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATT TTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATGT GCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAAC AATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGT AGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCAC TTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGA ATTATTTTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01074.hp1 others(31): Show HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG02145.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG03098.hp2 HG03471.hp1 HG03490.hp1 HG03669.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp2 NA19090.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0011 a0016 a0019 a0020 a0023 a0024 a0027 a0031 a0032 a0048	a0001c0001 a0001c0004 a0001c0080 others(21): Show a0001c0001 a0001c0004 a0001c0080 a0002c0009 a0002c0019 a0002c0046 a0003c0005 a0005c0002 a0005c0037 a0005c0066 a0006c0012 a0007c0008 a0008c0003 a0011c0007 a0016c0028 a0019c0025 a0020c0048 a0020c0071 a0023c0044 a0024c0042 a0027c0039 a0031c0068 a0032c0088 a0048c0040	a0001c0001t0005 a0001c0001t0008 a0001c0004t0006 others(27): Show a0001c0001t0005 a0001c0001t0008 a0001c0004t0006 a0001c0004t0007 a0001c0080t0007 a0002c0009t0007 a0002c0009t0025 a0002c0019t0011 a0002c0046t0010 a0003c0005t0007 a0005c0002t0009 a0005c0037t0014 a0005c0066t0002 a0006c0012t0006 a0007c0008t0001 a0008c0003t0001 a0008c0003t0016 a0008c0003t0028 a0011c0007t0034 a0011c0007t0058 a0016c0028t0061 a0019c0025t0001 a0020c0048t0055 a0020c0071t0053 a0023c0044t0015 a0024c0042t0013 a0027c0039t0014 a0031c0068t0001 a0032c0088t0001 a0048c0040t0015	a0001c0001t0005g0025 a0001c0001t0005g0047 a0001c0001t0008g0068 others(31): Show a0001c0001t0005g0025 a0001c0001t0005g0047 a0001c0001t0008g0068 a0001c0001t0008g0107 a0001c0004t0006g0001 a0001c0004t0007g0036 a0001c0080t0007g0024 a0002c0009t0007g0039 a0002c0009t0025g0084 a0002c0019t0011g0085 a0002c0046t0010g0125 a0003c0005t0007g0030 a0005c0002t0009g0153 a0005c0002t0009g0160 a0005c0002t0009g0162 a0005c0037t0014g0118 a0005c0066t0002g0016 a0006c0012t0006g0023 a0007c0008t0001g0026 a0008c0003t0001g0145 a0008c0003t0016g0038 a0008c0003t0028g0163 a0011c0007t0034g0096 a0011c0007t0058g0012 a0016c0028t0061g0044 a0019c0025t0001g0146 a0020c0048t0055g0138 a0020c0071t0053g0053 a0023c0044t0015g0134 a0024c0042t0013g0129 a0027c0039t0014g0126 a0031c0068t0001g0069 a0032c0088t0001g0110 a0048c0040t0015g0165	34	166	0.2048	-1862	c.360 others(19): Show c.3604+3101_3605-1466del		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
IL3RA_chrX_1331785_1387689	1369894	CGTCTCCA others(1854): Show CGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGAT GGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGG GACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAG AGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCC AGCCTCCAGGGCTGTGGGAGAATCAGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAG AAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACA GGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCA GCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAGGACAC AGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTC TCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTG GATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGT TTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAC TAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAGAGAGGGACG ACCCTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCCAGGAGAGGG GCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGCC TCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCT CTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAA GAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGACAC AGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAG ACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGA CCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGG CCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCT CCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTC TGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAG AGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAG GGAGAAGACGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp1 others(30): Show HG00099.hp1 HG00140.hp1 HG00558.hp1 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02602.hp2 HG02886.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0009	a0001c0001 a0001c0003 a0005c0012 others(2): Show a0001c0001 a0001c0003 a0005c0012 a0006c0011 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0003t0004 a0005c0012t0003 a0006c0011t0004 a0009c0008t0004	a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0103 others(30): Show a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0002g0029 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0094 a0001c0001t0003g0105 a0001c0001t0003g0113 a0001c0001t0004g0040 a0001c0001t0004g0052 a0001c0001t0004g0060 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0076 a0001c0001t0004g0092 a0001c0001t0007g0097 a0001c0001t0010g0039 a0001c0001t0013g0091 a0001c0001t0015g0096 a0001c0003t0004g0066 a0005c0012t0003g0020 a0006c0011t0004g0059 a0009c0008t0004g0068	33	115	0.2870	-1861	c.874 others(17): Show c.874+4800_874+6660del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
MUC22_chr6_31005474_31040402	31027084	GGGCTCTG others(1853): Show GGGCTCTGAGACCACTATGGCCTCTACCATAGGCCCTGAGACCACCAAGG TCTCCACTGCAAGCTCTGAGGTGACCACAGTCTTTGCTGCAGGCTCTGAG ACAATCAGAGCCTCTACCGTAGGCTCTGAGACCACCACAGTCTCTACCAC AGGCTCTGAGACCACCACAGCCTCCATCATGGGCTCTGAGACCAGCACAG ATTCTACCACAGGCTCTGAGACCACCACAGCCTCTACTGAAGGCTCTGAG ACCACCACAGCTTCCACTGAAGGCTCTGAGGCCACTACAGTCTCCACCAC AGGCTCTGAGACCACTACAGTTTCTATCACAGACTCAGAGACCACCACCA CCTGTACTGAAGGCTCTGAGATGACTGCAGTCTCCACCACAGTCTTTGAG ACCACTACAGCCTCTACTGAAGGCTCTGAGATCACAATAGCCTCTACTTC AGACTCTGAGACCACCACAGCTTCTACTGAAGGTTCTGAGACCACTACAG TCACTACCGCAGGCTCTGAGACCAAAACAGCCTATACTACAGGCTCTGAG ACCACCACAGCCTCTAATACAGGCTTGGAGACCACCACAGTCTTTACCAT AGGCTCTGACACCACCACAGCCTCTACTGAAGGCTCTGAGACCACTGCAG TCTCTGCCACAGGCTCTGAGATGACCACAGTCTCTACTGAAGGCTCTGAG AACACTACAGTCTCCACCACAGGCTCTGAGACCACTACAGTTTCCACCAC AGGCTTGGAGACCACCACCACTTCCACTGAAGGCTCTGAGATGACTACAG TCTCCACCACAGGTGCTGAGACCACCACAGACTCTACTGAAGGCTCTGGG ACCACTGCAGCCTCCACTGCAGGCTCTGAGACCACCACAGTCTCTACTGC AGATTCTGAGAACACCACAGCATCTACTGCAGATTCTGAGACCACCTCAG CCTCTACTACAGGCTCTGAGACCACCACAGCCTCTACTACAAGCTCTGAG ACCACCACAGCCTCTACTGAAGGCTCTGAGACCACTACAGTCTCCACCAC AGACTCTGAGACCACCATGGTCTCTACCACAGGCTCTGAGAGGACCATCA CCTCTACTGAAGGCTCTGAGACCACTACAGTATCTGCCACAGGCTCTGAG ACCACAGTCTCTACTGAAGGCTCTGGGACCACTACAGTCTCCATCACAGG CTCTGAGACCACTAAAGTTTCTACCACAGGTTCAGAGACCACCACCACTT CTACTGAAGGCTCTGAGATTACTACAGCCTCCATCACAGGCTCTGAGACC ACCACAGCCTCTACTGAAGGCTCCGAGACCACCACAGCCTCTACTGAAGG CTCCGAGACCACCTCAGCCTCTACTACAGGCTCTGAGACCACCACAGCCT CTACTACAAGCTCTGAGACCACCATGGCATCCATCATGGGCTCTGAGACC ACTATGGCCTCTACCATAGGCTCTGAGACCACCAAGGTCTCCACTGCAAG CTCTAAAATGACCACAGTCTTCACTGAAAACTCTGAGACCACCATAGCCT CTACCACAGCCTCTGAGACCACCACAGTCTCCACTGCAGGCTCTGAGACC ATCCCAGCCTCTACAGCAGGCTCTGAGACCACCACCACCACCTCTACTGA AGGCTCTGAGACCACTACAGCCTCTACTGAAGGCTCTGAGACCACCACAG CCTCTACTGAAAGCTCTGAGACCACTACAGCCACTACCATAGGCTCTGAG ACCACCACAGCCTCTACTGAAGGCTCTGAGACTACCACCACCTCTACTGA AGGCTCTGAGACCACCACAGCCTCTACTGAAGGCTCTGAGATCACTACAG TTTCTACCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18945.hp1 NA18955.hp1 others(13): Show NA18942.hp1 NA18945.hp1 NA18955.hp1 NA18963.hp2 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA19002.hp2 NA19054.hp2 NA19062.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0004 a0008c0003t0004	a0008c0003t0004g0005 a0008c0003t0004g0145 a0008c0003t0004g0146 others(3): Show a0008c0003t0004g0005 a0008c0003t0004g0145 a0008c0003t0004g0146 a0008c0003t0004g0147 a0008c0003t0004g0149 a0008c0003t0004g0151	16	461	0.0347	-1860	c.166 others(9): Show c.1668_3527del	p.Met others(14): Show p.Met557_Thr1176del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	2/4	1901/6019	1668/5322	556/1773		INFO_REALIGN_3_PRIME	chr6	TogoVar
ATP2C2_chr16_84363538_84469187	84396340	ATTTGAGA others(1849): Show ATTTGAGACCAGCCTGGCCAACCTGGTGAAAACCCGTCTCTACTAAAAAT ACAAAAACAAATTAGTGAGGCGTGGCGGTGCGTGCCTGTAGTCCCAGCTA CTGGGGAGGGTGAGGCAGGAGACTCGCTTGAACCCGGGAGGAGGAGGTTG TAGTGAGCCGAGGTCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAG GCTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGTGAATTCGGT GTAGTGAGTCACAAATGGCAAGGCTGAGGGCAGCTGAGTGAGTGTGGGGG ATGGGGGGAGTGCCCAGCCTGCCTCCACCTGTGGTGTGCGCAAGAATCAA GCACTTTATTTGGTACGACGGGAGCAGATCTTGAGAATGGGGGGAAAAGT CTTGTGCAATCCACATTTTTCTTTGAAGTAACTCTACAAAGAATGCAATG TTGACTTAAGGAGGGCTCCCAATGGATGGCTAAGCCTGCTTAAAGATCTG CGTAATCGCTGCTGTGCTCCTGGGCACTGGGCATGAGTGAGAAGCAGCCG CATGAAACCGAGGTGGGTAGCACAGCTTTTCTAAGCAAATAGGCATTTGG GAGGAGATGGTTTGGGGTTGGGGAGGGCGGCTGTCAAGAAGGAAGAGTGG GATTTGCAATCTCTATTACAGCTAAAGGAGGAAGTTACTCAATACCTCTC CTGCTTCCTTTTTCCCAGTTTCCAGTAACCTGGTGGAAAAGGAAAAGATG ATTATCACATCCTGGGTATCAGGATGCTAGGAATGGTTTTGCAAAAATAC CTCACACTTTTCCGCTTCTGAGGTCTCCTTTGTATTAGCAAAGCCTCCCG AAGCCTCCAGGTGTTTCACGTGGCTTCTTTCCAGGCCCGCAGGTCTCAAC ACAGAGTGCTGGGACTTCCAGAACTTGGTTGTGTTTCCCCTCCCCTTTTC TTTGGTTATTTAAAATGTCCCATAGAACCAGGCTGTGATACCACCTATCA TCAGTAGGAGGCACTCTCTGCAATATGGTGCATACTTGATGGAGAATCCT GGAAGTTCGAGGTTCAGGATTCTACATATGTATATTGTTGCCCTACTCTG TCCACTTACAAGTTTCAATTCTGTAAAATAAGTTCGCTCAGCCTGGGCAA CATAGGGAGACCCTGTCCCTACAAAATATTAAAAAATTAGCCAGGCACAA TAGCATGCACCTGTGGTCCTGCTATTCAGGAGGCTGAAGCAGGAGGATCA CCTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTATGATTGCACCACTGCA CTCCAGCCTGGGTGACAAAAAAAAAAAAAAAAAACTTGCTTAAAAATAGA TGCATCAGTATTAGCCAACAACTAACAACTGGAACCCAGATATTCATCAA CAGGAGAACAAATACAATGTGATCTACTCATACAGTGGAATACTAAGCTG CTGTGAAAATTAGCGTACTGTTGCTACATGCATTCTCACTTGTATAAATC TCACTAACAATGTTGAGTGAAAGAAATCAGACAAGAAAGCATGTATGAGT GTATACTGCATGGCACCATTTCCATAAAGTTCAAACCCTGGCCAACCTAA TCTATGAGGATTGAAACCATGACAGCAGTTACCCCTCAGGTAGGTAGGTT GGCCAAGGGAGCATCAGGGGACCAGTCATATCTGTTTCTTAATTTGGGGG CTGGTTATAAGGGTTAGTTTGTGAGCTGTACACATATGCACACTGTGTGT GTGTGTTTTATGCTTTAAAAAAAACACATGTGGCCGGGCGCAGTGGCTCC ACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGG TCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 HG02622.hp2 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0041 a0004c0027 a0001c0041 a0004c0027	a0001c0041t0004 a0004c0027t0001 a0001c0041t0004 a0004c0027t0001	a0001c0041t0004g0209 a0004c0027t0001g0104 a0001c0041t0004g0209 a0004c0027t0001g0104	2	432	0.0046	-1856	c.100 others(16): Show c.100-2148_100-293del		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPPED1_chr16_12654799_12808887	12696707	TGCTGGGA others(1847): Show TGCTGGGATTACAGGTGTGAGCCGCTGCGCCTGGCCTGACTTGTCTTTTT GATTTTATATATGACTCTCCTTAAGGGATACACCAACTTGACAAGGTTGG GGTGAGTACCCTCTTTTTACAAGTGGGAAAACTAAGGCAGAGAAATGTTT AGTGGCTTATCCCAAGCAACTTAAGAAGCCAAATCCTGTCTGTTCACCTG CCATGTTATAGGACCCCCTGCCCACCGGCCCAGACGCTAATTCCCCCTGT ACAAACCTCCAAGTTTTGCCTTATCTGCACAGTACTCATACTACTATTTA CTGAATCATTTTCTTTATTTTTATTTTTTATTTTTTGAGTCAGAATCTTG CTCTGTTGCCCAGATTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAAC CTCTGCCTCCCAGGTTCAAGCCAATGTCCTGCCTTAGCCTCCCAAGTAGC TAGGACTACAAGTGTGTGCCATCACGCTTGGCTAATTTTTGTATTTTTAG TAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGC TCAGGTGATAATTAAATCATTTTCTTTAAATTGATAAGCTAGTTCTATTT TTTTCTAATACATGTGAAGCTGATCACCCAATTATTAGACATCTTACATG CACCATGGACCCTCTTGTCTGCAATCCATCACATCCTGGTCTTCAGGGGA ACATGTGCCTCACCCAGGCACGCCCTCCACTGAAGACCTTCAGGAGGCTT GTTCTGGGCAGACCTTTCTGTCAGTCAGGCAGTTGTTACAATGGGGTCGT CAGATGCATCCTAAACTTAGACACATACAGAATGTGGACAAGGTTCTGGG GAGAGCAAGAGCGTCACCCTGTAATGGGAACATTTCTCTAAGCCAAGAGT TGGAAAATTATCACCGGCAGGCCTACCACCTGTTTCTGGAAATAAAGTTT TATTGGAACACTGCACTGTCTGTGGCTGCTCTCTTGTTATGAAGGCAGAG TTGAGTAGTTGCTACAGAGACCATAGAGCCACAAAGCCCAAAATATTTAC TATCTGACCCTTTACCGAAAAGTTCTATTGACCCCTCTAGGCGAAGCATT TCCCATACAAAAGTCAGCTTGTGGCCTGGGTGCAGTGGCTCATGCCTGTA ATCTTAGCACTTTGGGAGGCCAAGGTGAGCGGATCACTTGAGGTCAGGAG TTTGCGACCAGCCTGGCCAATACAGTGAAACTATCTCTTCTAAAAATACA AAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGA GGCTGAGTCAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAG TCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGA CCCCAACCCCCACCAAAAAAAAGTCAGTTCATGAAAACCAACTCACAAGT GATACGGATATTACCTGCTGATAAGTAGACTTGAATCACGCTTAATTCAA TTCCATTGACCACTATTCACCTATTGGGGGGCTACTATATGACAGTCTCA GCTAGGGGCTGGCCTTACAGAGGTGAATAAGGCTGGGCTTCTGTTTCCTG GAGGAATCAGGATCTAAACAGTGACTGCAATACAGCGCAAAGGATGTCAG AGCAGGATTTGATGTTTTATCTTCCTATAAAGTAAATCCTGGGAACCTGA TCTTTTTGTTCTTTAAAACTTTGAATTTTTTTTATTTATTTTTGAGACAC AGTCTTGCTCTGTTGCCCAGATTGGCATGCAGTGGCGTAATCTTGGCTCA CCGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCC AAGTA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03704.hp1 HG02602.hp1 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0019 a0001c0001t0005 a0003c0003t0019	a0001c0001t0005g0175 a0003c0003t0019g0214 a0001c0001t0005g0175 a0003c0003t0019g0214	2	290	0.0069	-1854	c.715 others(17): Show c.715+6063_715+7916del		CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	3/3						chr16	TogoVar
EFHD1_chr2_232628604_232687776	232648386	TGGGAGTG others(1847): Show TGGGAGTGACTGTTTCCCAGCCCGCAGCTGGTTGGGCAGGAAGGAGGAGC AGGTGATTTGACAGCTGGGGAGGACCCACCCAACCAGAGAAAACTAGAAA CTCAGAGAACCTTGCAGGCAGGGATGTAGGGAGAGGGACTACAGTCCTGT GACCTTAGGGAGTCTCCGAGGCTCATCTAGATAGGCACAGCTGGGGACAC CCATAGGGTAACCCCAGGAGGGCCCCTGGGAAGACCACCTGCCGGTGGGT GTAGTCTGTGCTGCCCTTCTCTGCCTTGAACGTGCCCAGGGGCTGTGGTG TGGGGGGCTTGTGAACATGCAGGCTCTGATTCAGCAGGTCTAGGGGTCTC GGTAGAACTTGAGACTGCATTTGTAACACTCCTGGGTGACCGTGATGCTC TGGTCTGGGGACCTCACTTTGTGGGGCCAGCGCCTGGCTGTTGAAAAAGG CAATGCGTGATTTCTATTCCAAGCCTTTCTGTGTGAAGAGAAGAAGGTAC TCTTGTGTCCTGGTGTCCCTGAGATGCAGGCAACCCCCTCCCATCACTAA GGCGTGTTCTGGGGCACTGCTACCCTCCTGAGAACACCCTATCTGAGAGA TCCCTGGGGAGTTTCCAACAGCTGAACCTCTGGTGGACAAAGGCTGGCCA GCTTCTTTTTCCATGAATGGCAGGATAATTCCTGGGAGGGAAGTTAGAAA ACCAAGAAAGCCTGGGGCTCTCTGCACAGTGGAAGCCAAGAGAATAAGTG ACTGACTCATGGACCTGAAACCGGGAGGACGCCGGAGACCAGCCATTGTC CCTTGCTGCTGTCCTCTTGCTAGCTGGCCCTGGGTGGGGTTGGGGTCGGA GTCACCTCGGGCCCTTTGGCGGATCTGGGGGCTTTCCCAGGCAGTGGGCA CGCACAGCAGCAGATGGTCAAGCGGCCCACACAGTCACGCCTCACTCTAC CGCTCAGTGGTGGCCTCAACTAGTAGATGAGTTGAGAAGCCTTTTCCAGG AGACCTGGGGAGGCGGGCCTTATCCTCTGATAGGACTGGGCCCTAACAGT CACTCAGGAATGGCTTTGTGGAGCGGTAGCACAGTGACCATGGCAGGTGG CGGATTTGGGTTTTCCCCAGAAAGCTAAAGATGAGGCTGTCTGGGACAAG TTGGGTGTGGGCAGCTTGTTAGAGTGGAAGCCCTGGGAACTGTCTGCTTC CTCATGACCGCAGACAAGTGCTACTTTAAAAAAATAGCCTCCTCACCGAT AGCTTACCTGGGCCTGTGTCCTGTGCAAGGGGATGATTTCCTTTGGGCCC CTCGACCACTCTGCAAGGCACACAAGGCTCATGGCAGTCTCAAGTTACAG ATGGGGCCAAGTCTCTCCCAAGAGGGTGGTGGGGCTGGTTTAGAATCTTT CCAACTGCCAGTGGAACCAGAGTCTCCCCCTAACAGAGTCTGGAGACTAT AAAGATGAAAGGGACTGAGCGTGGTGATACATGCCTGGAGTTCCAGCCAC TTAGGAGGATCTCCTGAGCCCAAGAGTTCTGGGCTTTCTGGGGTCTGTGC CCATCGGGTGCCCACACTGAGCTCAGCATCAATACGGTGACTTCCCAAGA GGGGAGGTGGGGTTAGGGGGGATCACCAGGCTGCCTAAAGAGGGGTGAAC TGGCCCGGGTCAGAAGCAGCAGGTCAAAACTCCCGTGCTGGTCAGCAGTG GGATTGCTCCTGTGAATAGCCACTGCACTCCAGCCTGGGCAACATAGCGA GGCCCTATCTCTAAAAAGTAACAATAGCAAAGATGAAAGGAACTGAGAAA ATGGAAAATATGGGAAAAGGCCACAAGTCCACAAGGAAGCTCTAGGATGC AAACA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0039 a0001c0001t0013g0039	1	382	0.0026	-1854	c.302 others(19): Show c.302+14384_303-12559del		EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805559	CTCCCCCC others(1846): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGC ACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18971.hp1 NA19007.hp2 others(1): Show HG02922.hp1 NA18971.hp1 NA19007.hp2 NA19085.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0123 a0003c0003t0001g0039 a0003c0003t0001g0074 others(1): Show a0002c0002t0002g0123 a0003c0003t0001g0039 a0003c0003t0001g0074 a0003c0003t0001g0240	4	314	0.0127	-1853	c.13 others(11): Show c.1394_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1273		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805554	CCACCCTC others(1846): Show CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC GCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGA AGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0116 a0001c0004t0001g0116	1	319	0.0031	-1853	c.-37 others(11): Show c.-3723_-1871del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3638		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805559	CTCCCCCC others(1846): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGC ACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18971.hp2 NA19007.hp1 others(1): Show HG02922.hp2 NA18971.hp2 NA19007.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0008 a0001c0001 a0001c0004 a0002c0008	a0001c0001t0001 a0001c0004t0001 a0002c0008t0002 a0001c0001t0001 a0001c0004t0001 a0002c0008t0002	a0001c0001t0001g0001 a0001c0004t0001g0005 a0001c0004t0001g0105 others(1): Show a0001c0001t0001g0001 a0001c0004t0001g0005 a0001c0004t0001g0105 a0002c0008t0002g0140	4	319	0.0125	-1853	c.-37 others(11): Show c.-3718_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3633		chr2	TogoVar
ABR_chr17_998519_1184981	1117495	TCCCCAGC others(1845): Show TCCCCAGCGTTATCCCTGAGCCGGAGTTCCTCCCAGCATTATCCCTGAAC CCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCATTAT CCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCC AGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAG TTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCT GAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCCT CCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCAGCGTTAACCCTGAGCC TGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCA GCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGCCTGAGT TCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTTCCCAGCGTTATCCCTGA GCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGCGTT ATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTC CCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCT GAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCC CTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGC ATTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC CTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTAACCCTGAGCC TGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCA GCGTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGT TCTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGA GCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGCGTT ATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTC CCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGA GTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCAGCGTTATCCCTG AGCCTGAGTTCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTT ATCCCTGAGCCTGAGTTCTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCC CCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTG AGTTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCG TTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCT CCCAGCGTTATCCCTGAGCCTGAGTTCTCCCAGCGTTATCCCTGAGCCTG AGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCCAG CTTTATCCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGT TCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0246 a0001c0001t0011g0246	1	337	0.0030	-1852	c.246 others(17): Show c.246+5836_246+7687del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22						chr17	TogoVar
ADARB2_chr10_1172313_1742525	1235668	CCCTCCCG others(1845): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTC CTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAA AGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCT TTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTA CACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCA CAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATT AAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAG GTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCAT GACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTT GCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCA CCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTC TTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTT CACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTT ACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAG CCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTG AAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAA CGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCC GGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG GTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0032 a0002c0002t0026g0032	1	106	0.0094	-1852	c.136 others(19): Show c.1362-3675_1362-1824del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
GAL3ST2_chr2_241771822_241809287	241805673	TCCCCCCT others(1845): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCC CCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGC TTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG CCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0237 a0003c0003t0001g0237	1	314	0.0032	-1852	c.15 others(11): Show c.1508_*3359del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1387		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805673	TCCCCCCT others(1845): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCC CCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGC TTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGG CCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	319	0.0031	-1852	c.-36 others(11): Show c.-3604_-1753del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3519		chr2	TogoVar
CELF1_chr11_47460937_47558132	47504552	ATGGGCAA others(1843): Show ATGGGCAACAGCGTGAGACCCTGCCTTACAAAACAAAATAAATAAAACAT AAAAAACCTCCATTTCAGGCTGGGCGCGGTGGCTCACCGCCTCTAATCCC AGCACTTTGGAAGGCCGAGGTGAGCAGATCACCTAAGGTCAGGAGTTCTA GACCAGTTTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAA ATTAGCCGGATGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCG ACACCATGCCATTGCACTCCAGCCTGGGCGATAGAGTGAGACTCTGTCAC CAAAAAAAAAAAAAAAAAAATTTCCATTTCAAATCTAAAATCACTGTACC AAAAAAGCACTACATTTAATAATTTGTTGTGTACAAGTTGCCTTGCCTGT AAAATTACCACATACAGTATACTGAAAGGATATGACAAAAACATCACCAT TTTGAAAACGAAAAAGTTTTCCATTTCCTCCCCTATCCTTAATCACAGAA AGACTCTGTACTCAGCTCTGTACTACTGCTGTGTACTCAGCAATAGTATA GCCTCAGAGCCTTCCTTGGAGTATCTGTCAGTAACACTGACCCAACAGTC CTGTCAAATTGTGACCACCCTTCCAATCAAGTCATACTTTCAGATCCCAC ACTAGTTCTGGAACTTAAGTGCATTTCTTAGTTGGTAACAATATACTGTA AGTTTACACTTTATTTAAGCTCCAGTGCTGATTTAAAAATCAGTATGTTA GGCCAGGCACGGTGGCTCATGCCTGGAATCCCAACACTTTAGGAGCCCAA GATGGGCAGATCACGAGGTCAGATCGAGACCACCCTGGTTAACACGGTGA AATCCCCTCTCTACTAAAAAAAATACAAAAAATACAAAAAAATTAGCCGG CCATGGTGGCAGGCAGCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGG AGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGC CACTGTACTCCAGCCTGGCTGACAGAGTGAGACTCTGTCTCCAAAAAAAA AAAAAAATCAGTATGTTAGCCGGGCACAGTGGCTCCTATCTGTAATCCCA GTACTTTGGGAGGCCGAGGCTGGCAGATCACCTGAGGTCAGGAGTTCGAG ACCTGTCTCTACTAAAAATACAAAAATACAAAAATTAGCCAGGCACAGTA GCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATTGC CTGAACCCAGGAGGCAGAGGCTGCAGTGAGCTGAGATCGTGCCACTGCAC TCCAGCCTGGGTGACAAGAGTGAAACTCTGTCTCCAAAAAAAAAAAAAAA AAGTATGTTGAACAAATTCTGGTTCAAGGAAGGTATTAGTACGTGCATGG AATCTACTAAGTTCCGTCCTCATCTCTGTTCCAGTGGTGTCCAATCTTTA GGCTTCCTTGTGCCACACTGGAAGAGGAATTGTCTTAGGCCACAAATAAA ATATACTAATGATAGCCGATGAGTTAAAAAAAAAAAATTTGCAGGCTGGG CGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGA GGATCACAAGGTCAAGAGATAGAGACCATCCTGGCTAACACGATGAAACC CCGTCTCTACTAAAAATACAAAACATTAGCCAGGCGTGGTGGCACAGGCC TGTTAATCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATTGCTTGAACCC GGGAGGCGGAGGGGTTGCAGTGAGCCAAGATCGCGCCACTGCTCTCCAGC C	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01257.hp2 others(3): Show HG01071.hp2 HG01099.hp2 HG01257.hp2 HG02698.hp1 HG03017.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 others(3): Show a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307	6	340	0.0177	-1850	c.-15 others(19): Show c.-153-5470_-153-3621del		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14						chr11	TogoVar
COTL1_chr16_84560596_84623078	84561109	TGGGAGGC others(1842): Show TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGATCGTG CCACTGCATTCCTGCCTGGGCAACAGAGGGAGACTCTGCTTCAAAAAAAA AAAAAAAAGAAAAGAAAAGAAAAAAAAAAGGAATTCATTTACATTCAAAC AAAAATGGAATGTTGCAGGTGCCTCATCTGTCAGGCTGGGAGGAATCTCG GAGCTGAAAGCAACCCAAGCTTCTCTCGCTCCCAGGAAGTCTCACTGTAT TGATGCCACCTGGTCAGCACAGTGCACCGCAGACCAGAACTCCTGGGCTC AAGGTGTCTCCTGCCTGAGCCTCAAATACCTAGGACTACAGGTGTGCGCA CTGCGCCTGGCTAGCTTTTGTTTTTATGCTGTTGGGACACCTGGCCATGG TGAAGTTTGGCCGCCTGGTCCTTCTTCCTCTTTGGATAGCAACCTGGATT ACTGAAATTCCTGCTCCATCCTTCCTCCAGCCTGCAGGGAGCACCTGCTG AGGGAGTGCTGGGGAGTGCTGTTGTCCTGGTCCATGAGGCAGCTGAGGAC CCCGGCAGACTAGCCAGTCTCTTTCCATTGCACAGAATGTTAGGGCTCAC TCATTCATTCACTTCTGTGAAATCCTACAGCATGACCTCATGAAAAGATG CTTGAACCCGGCACTGCCTGGGTTCAAATCCTGGCTCAGCTGTTTCCTAG GTGTGTGTGGTAGGCTGTATTTCTCTTCACAAACGTTTGGTGACCCCCCT TGCAAGAGACTGGTACATCCCTGCCCGGCTGAACCTCGTATAGCTGTGTG ACTTACCTTGGGAACTCTTCAGAGGAGGCAAGCATCCTGCCTAAGGTCAC ACGGCCTGTAGGCGGGGAACTCGGGTTCCAACCGTTCCCCTCACACTGTG CTGGCTCCCAGTCCCAGCCCCACCTTCCCAACAGGGATCGAAGAGCCATG TCTTTTGCTCCCTCCCAGACCCTGCCCAGGTGGAGACATTTGTGTACCCA AAGTGATGCCAGCCAAGCCCTAGATTCGTAGCAGCAGCCCACGGGCGGCG ACACTGACAAGCAGGGGTAGAAGGATCAGACGGCTCTGTCACTGCCTCGG GGTTAGGCCTGAGCTGTTCATGGCCACAGCCCTTGCTCCAAACGAGGATG GTCCCCCAGGACTGTGCAGAGTCCCCATCGGAATCTAACAGATCACATCA CGCTAAGCACCTGGCAAGGCTCAGCTCACTTAGTCCTTGTAATAAATGCA TGAGGGAAGTGCTGTGATCTTTAGAGGGGGAAACTGAGGCTCAGAGAGGT GACACTACTGGCCAAGGTCATCTGGCGGGTGAACCACGGACCTCGGACTC AAACCTGAGCCCAAGGCTGAGCTCTGAGCCACGGCTGTGCTGCCTACTGT CTCTTACTGAGTCATCTGGTGGCCGCGGCCGTTTCTGGTTCTTTCAAAAA ATTCTTTCTACATCACTTGGACTATGCACATTTTCTGCTTCTTGTTTCTC TCTTTTATGGTTCACTAAGAAATGGGGAACAGAAAGATTTCAACGAGGGC AGCCCATCCTCAGGGCAGGAGCTGCACGGGAACTTTCCCCCAGCCAGGGC CGCACCCTGGGCCTGGACTCCCTCACCAGCCCCAGATAACCTCTGGGGTA TAAACACCTGGCACAGCTGAGAAATAGGGCTGAGTGTGGTGGTTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGG AGTTAGACACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAA CACAAAAATTCGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGCTACTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	440	0.0023	-1849	c.38 others(11): Show c.3887_*5735del		COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding					4486		chr16	TogoVar
GAL3ST2_chr2_241771822_241809287	241805563	CCCCTCAG others(1842): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	314	0.0032	-1849	c.13 others(11): Show c.1398_*3246del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1277		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805563	CCCCTCAG others(1842): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0014 a0001c0019t0001g0014	1	319	0.0031	-1849	c.-37 others(11): Show c.-3714_-1866del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3629		chr2	TogoVar
COL23A1_chr5_178232618_178595393	178394846	AGCATTCG others(1841): Show AGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCT GTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTC TCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAG TCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAAC GTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGC GGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGG TTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTC TGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGG CCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGC TCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAG AGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAA ACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCG GCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTT GGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGC TCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCC GGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCG GCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCG AGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCC AAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCC CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCT CCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTC CCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAG GCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAG GCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGG CCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCA TTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCC TCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAG CTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTC TCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCC AGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGC AGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCC GGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02486.hp1 others(7): Show HG01243.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03225.hp1 HG03471.hp1 NA18906.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0002 a0002c0014 others(3): Show a0001c0001 a0002c0002 a0002c0014 a0003c0005 a0004c0006 a0008c0018	a0001c0001t0003 a0001c0001t0005 a0002c0002t0009 others(5): Show a0001c0001t0003 a0001c0001t0005 a0002c0002t0009 a0002c0014t0003 a0003c0005t0002 a0003c0005t0005 a0004c0006t0003 a0008c0018t0003	a0001c0001t0003g0073 a0001c0001t0003g0182 a0001c0001t0005g0216 others(7): Show a0001c0001t0003g0073 a0001c0001t0003g0182 a0001c0001t0005g0216 a0002c0002t0009g0225 a0002c0014t0003g0124 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0005g0208 a0004c0006t0003g0143 a0008c0018t0003g0215	10	236	0.0424	-1848	c.362 others(19): Show c.362-89775_362-87928del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
MCF2L_chr13_112964214_113104742	113067208	GCGGAGGC others(1841): Show GCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGCGCACAGCTGGAGTGCCAGCTACTC GGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGCGCACAGCT GGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACC TGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGT GAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACGCGG AGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGG AGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTG GGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGA GCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAG GCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAG TCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGG TGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGC CGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGC AGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTC CCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTG GTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCG AGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTTGGAGGCAG AGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCC AGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGT GCAACGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAG ATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAG GTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAG CTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGC ACAGCTGGAGTCCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGAT TGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGT CGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCT ACTTGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCAC AGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTG CACCTGGGTGGTGCAACGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCG CAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTAC TCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	116	0.0086	-1848	c.881 others(16): Show c.881+1095_882-947del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
FKBP3_chr14_45110599_45139481	45126264	TGGATCAC others(1840): Show TGGATCACGAGGTCAGGAATTCGACAATAGCCTGACCAACATGGTGAAAC CCTGTCTCTACTAAAAATACAAAAATTAACCGGGCGTTGTGGTGTGCGCC TGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAACTGCTTGAACCCG GGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGCATTCCAGCCTA GGCAACAGAGCGTGACCCCGTCTCAAAAAACAAAGAAAAAAAAAGAATAC GTCTATAGAAACATGGAATATGGAGCTTAGCAGCAGCCACATTTTGGAAG TTTTGAATGCCAAGAATAAGAAATTTGGATATATATTGAAGACCAGTGGT GACCAATAAAAATGGGAGTCACAAATGTAATTTTGAGTTGTCTAATAGCT GCACTTAAAAATGTAAAAAGAAAGAGATGAAGTATGTCTATGCCAGGCAG TGGTATGCCTGTAGTCCCAGTTATTCTGAGTATTCTGAGGCAGGAGGATC ACTGGAGCCCACGAGTTTGAGTCCAGCCTGGGCAACACAGCATGACCCTG TCTCTTTTTTTCTTTTTTTTGAGACTGAGTCTCCTTCTATTGCCCAGGCT GGAGTGCAGTGGCGCAATCTTGGCTCCCTGCAACCTCTGCCTCCTGGGTT CAAGTGATTCTCCTGCCTCAGTCTCCCATGTGGCTGGAATTACAGATGCA TGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTGGTCTCAAACTCCTGACCTCAAGTGATCTGCTCCTCTTGGCCT CCCAAAGTGCTGGGATTACAGGCACCAGCCACTGTACCTGACTGACCCTG TCTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGG AGTACAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCTGGGGTTCA GGCGATTCTCCCACCTCAACCTTCCGAGTAGCTGGGATTACAGGTGTGCA CCACCACATCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTAAC CATGTTGGCCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGC CTCCCAACCGACCCTGTCTTAAAAAAATAAAATAAAAAATTTTTAAATGA AAAATTTTCTTATTTAAACTAAAACATCCCAAATACCATCATTTCAATAA GTAATCAATATAAAAAATACTGAGATATTTTACATTCTTTTTTAAAAAAG AAACGTCTAAATTACACCTTTGAAACTGAGTATATATTTTATTCTTAAAG CACATTTCAGTTCAAAGTAGCTAAAGCACTCTGTAGCCACATATTGTTAG TAACTACCATACTGAACGGGGCAATTCTAGACAACACTCAATTACTGAAG ATTTTTCAGCAGGGTGTGGTTTGCAAAGTATTGTTTTAGAAATCTTATTA GAATACCCATTTTGTTGCTGACTGGATAAAGAAAGAGAAGGGAGGCAAGA AATGAACAACGTTTTTAACATTCTGGGTATGAGGCCTTGCTTCGAATGCT TGAAAATGGAAAAGGAATGAACGTTTAAAATAAAAGGAAGATGTTTGAGA GCATTAGTCCTGAAGGAGACATGAGAAAGAAAAAGGGACGCAAAGATTCA GAGAAATTTTAAGCTCAGAAGAAGGGAATGGCAATGGCTAGACATTCACA TTTTGGCACTACAGAACACAGGAGCATATAATGAGAAGGGAGTCCAGGGG CAGTGGCTCACGCCTGTAATCCCAACACTTTGGAAGGCCTAGGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 NA18954.hp1 others(4): Show HG00597.hp1 HG00609.hp2 NA18954.hp1 NA18982.hp1 NA18985.hp1 NA19011.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0136 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0136	7	304	0.0230	-1847	c.318 others(17): Show c.318+1683_318+3529del		FKBP3	ENSG00000100442.11	transcript	ENST00000396062.4	protein_coding	3/6						chr14	TogoVar
SHLD1_chr20_5745401_5869395	5808909	TATTATCG others(1839): Show TATTATCGGTTAGGAGTTAATTCACAGTAAAGTGTTTGTTTTAGAACATC AAATTAATATGCCATGAAGGAATTTAAGGGGGTGGCATTTTTTATGAGTT GCCATAGTGGCAGATACAGAGTTGTGGCACATACCTCATGAGAATGTACT TCCAGAGGTAGAACTAAAAAAGAATAATTTCTCATAAGAGGAGGTGAGAA ATGTTGGGGGTGGATTTTTCTTTCTAAAACCATGCTCATAAGTGATGAAA AGGACAGCTTTTAAAAATCACCAAAGAACTAAATGTATGACTAAATAGTG GAAAGGATCTTAACGTACATGTTTGCACAAAAATAAGAAACTCATTTTAA TTCCATGAAACAAATACTAACTATGGTTTAGAGTGAATCTTGACAGCATT CATAGATATGGCTCTCCTTAAATAGACTCTTAGAATTAGATGTATTTGCT CTGAGCTCAGAGTTAAATCCTCATTTCCCCTTATGTCACACCCTACTGCC AAGTGTCTGATTAGCAGCATCCTGAAAGGAAAAGCCGGCTGCCTCCCCTG AAGTGGGTCCCCAGTTCTGTAGTCCAGCTTGCTCCAGAGGTTATTGTCAC TCTGCCACCAAAAACAACCAATACAGTCAAAGCTCAGCAGCTCCAGCTCT AGCTGGATGAATTATCTTCTAACCACTCTTACCCCACATTGTACAACTGC ATCCATCCTTCCTCAGTTGTACAGACAACTTAAATATTTCCTCTACACCA TTGGTTCTCAACCAGTGGCCGTTGCCCCGTGCTGCCACCACCAGGGGACA TTTGGTGGAGTTTGGAGACATTTTTGGTTGTTAAAGCCATAGGATGCTAC TGACATATAGTCGGGAGAGGCCAGGGATGCTTCTAAATATCCTGCAATGC ACAGAATAGTTCCCCCACCCAACAAAGAATTATCTAGCCCGATAGCGCTG AGGGTATGAAACCCTGCTGTACACAGTGATGTCACATACTGAGGTCTCAT TGTTATTTCAGTTTTCTGGCATATCTAGTTTATCACATACTACACCTTTG TCAAAAATTGGATTGTTCGGCCAGGCGCAGTGGCTCACACCTGTAATCCC AGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAAGTCAGGAGTTCTAGA CCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAT TAGCCAGGCGTGATGCTGCGCGCCTGTAATCGCAGCTACTTGGGAGGCTG AGGGAGGAGAACTGCTTGAACCCGGGTGGTGGAGGTTGCAGTGAGCCAAG ATCGTGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGACTCTGTCTCGG AAAAAAAAAAAAATTGTATTGTTCAATAATGGACCACCTTAGACATCGAG TAACTAAGGGGACTGATACTGTGGTAGAGTGATCTTAGCATTAGGCTAGG TGGCAATTAGGAGATAGGTGTTCTAATCTCATTATTGCCTCTAATTAGCT ATGGGACCTTCCGAGCCATTTAATTATCTTTTGTGAAATGAGAGCATTTG CCTAAGTTGCCTAGAGTCTTTCTAAGTCTTAAAATATTCCATTACTCTGC CATTGCACATATATTTTTTAAGTGGGATAAGGATGAACAGTAGGTACATA CAGGTGTTCCATTGATTCTTTCTATTTCCCCTACCAATAGACGTATTTCT GTAGGCCTGGCATGATGGCTCACGCCTATAATCCCAGCACCTTGGGAGGC TGAGGTAAGCAGATCACTTGAGATCAAGAGTTTTGAGACCAGACTGGCCA ACGTGGTGAAACCATGTCTCCACAAAAAATACAAAGGTTAGCCAGGC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	328	0.0031	-1846	c.178 others(19): Show c.178+35869_178+37714del		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
RGL2_chr6_33286654_33303942	33301384	GCCAACAT others(1838): Show GCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTCACTGGG TGTGGTGGCATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAAGCCACA GAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAGATCATGCC ACTGCACTGCAGCCTGGGCGGAAGAGTGAGACTCCGTCTCAAAAAAAAAA AAAAAAGAAAAATTATCCCTTATATAAGTGAAAGAAAAAAAAAAAAGCAT TCCAGCCACTCAGTGGAGAGAGATTGGAGGGATTAGGAGCAGATGATAGG GTATTATTTTAGGGAGCTACTACAGAAGCTTGGGCCAGAGATGATGGTGG CTTCCACAGGATGGCAGTGAGTGCCCTCACTCTGCTTTCTGGAAGAGAGG AAGGTGGTGAGGAATTCAGGATATTAAAAGGCAGTTGAGGTGTACATGGT CAGTTTAGAGACATATAAACTATCATGGGCACAGATGATGGGAGAAGGAT GAGGCTAATATTTTCTGCCCTCCAGACACTGCTGAGTGCTGTATCTCCTG CATCTTCTTAAGGAGATACACTGTCTTCCTTAATCCTCCTAAAAGTCCTC TCAGGCTCCGCTGTCCAATATGACAGCCACCACCCACATTAGGCTATTGA GCATTTGATATGTGGCTAGTCCGAATTGAGATGTGCTGACTATTTAAAAT AAACACCTGTGTTTGAATACTTAAGGTGAGAAAAGGGCTGCAATTTATTT TCTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGT CACCCAGGCTGGAGTACAGTGGGACAACCTTAGCTCATTGCAGCCTCACC CTCCCAGATTCAAGCGATCCTTCTGCCACAGCTCCCCAAGTAGCTGGGAC TATAGCTGTGTGCCACCATGCCCAGCTAATTTGTTTTGTTTTGTTTTGTT TTGTTTTTTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTG GTGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCT CCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTGCACCACCATGC CCGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCTCCTCAGCCT CCCAAAGTGCTAGGATTACAGGCGTGAACCAACGCACCTGGCCAAGACTG TAATTTCTTTTTCTTTTTTTTTTGTTGTTGAGACGAAGTTTTCCTTTTGT CACCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGC CTCCCAGGTTCAAGCGATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGAT TACAGGTGCCGTCACATCTGGCTAATTTTTTGTATTTTTAGTAGAGATGG GGTTTCATCATGTTGGCTAAGCTGGTCTTGAACTCCTGACCTCAGGTGAT CCTCCCGCCTCGGCCTCCCAAAGTGCAGGGATTACAGGCATGAGCCATCG CACCCGGCCTGTAATTTCTTATATTGTTTACATGTTGCAATAATATTTTG GATGTACAGGTTGAGCATCGCCGATCCAAAACTCTAAAATCTGAAATGTT CCAAAACCTGAAATTTTTTTAGTGCCAACATGATGCCACAAGTGGAAAAT CCCACAGCTGCCCTCATGTGATGGGTCACATATATTATTAAAAATATTGT GGTCGGGTGCAGCGGTTCACACCTGTAATCCCAACGCTTTGGGAGGCCAA GGCAGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	2	393	0.0051	-1845	c.-44 others(11): Show c.-4401_-2557del		RGL2	ENSG00000237441.10	transcript	ENST00000497454.6	protein_coding					2443		chr6	TogoVar
TAPBP_chr6_33294694_33319078	33301384	GCCAACAT others(1838): Show GCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTCACTGGG TGTGGTGGCATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAAGCCACA GAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAGATCATGCC ACTGCACTGCAGCCTGGGCGGAAGAGTGAGACTCCGTCTCAAAAAAAAAA AAAAAAGAAAAATTATCCCTTATATAAGTGAAAGAAAAAAAAAAAAGCAT TCCAGCCACTCAGTGGAGAGAGATTGGAGGGATTAGGAGCAGATGATAGG GTATTATTTTAGGGAGCTACTACAGAAGCTTGGGCCAGAGATGATGGTGG CTTCCACAGGATGGCAGTGAGTGCCCTCACTCTGCTTTCTGGAAGAGAGG AAGGTGGTGAGGAATTCAGGATATTAAAAGGCAGTTGAGGTGTACATGGT CAGTTTAGAGACATATAAACTATCATGGGCACAGATGATGGGAGAAGGAT GAGGCTAATATTTTCTGCCCTCCAGACACTGCTGAGTGCTGTATCTCCTG CATCTTCTTAAGGAGATACACTGTCTTCCTTAATCCTCCTAAAAGTCCTC TCAGGCTCCGCTGTCCAATATGACAGCCACCACCCACATTAGGCTATTGA GCATTTGATATGTGGCTAGTCCGAATTGAGATGTGCTGACTATTTAAAAT AAACACCTGTGTTTGAATACTTAAGGTGAGAAAAGGGCTGCAATTTATTT TCTTTTCTTTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGT CACCCAGGCTGGAGTACAGTGGGACAACCTTAGCTCATTGCAGCCTCACC CTCCCAGATTCAAGCGATCCTTCTGCCACAGCTCCCCAAGTAGCTGGGAC TATAGCTGTGTGCCACCATGCCCAGCTAATTTGTTTTGTTTTGTTTTGTT TTGTTTTTTGAGACAGAGCCTCACTCTGTTGCCCAGGCTGGAGTGCAGTG GTGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCT CCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTGCACCACCATGC CCGGCTAATTTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCTCCTCAGCCT CCCAAAGTGCTAGGATTACAGGCGTGAACCAACGCACCTGGCCAAGACTG TAATTTCTTTTTCTTTTTTTTTTGTTGTTGAGACGAAGTTTTCCTTTTGT CACCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCTGC CTCCCAGGTTCAAGCGATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGAT TACAGGTGCCGTCACATCTGGCTAATTTTTTGTATTTTTAGTAGAGATGG GGTTTCATCATGTTGGCTAAGCTGGTCTTGAACTCCTGACCTCAGGTGAT CCTCCCGCCTCGGCCTCCCAAAGTGCAGGGATTACAGGCATGAGCCATCG CACCCGGCCTGTAATTTCTTATATTGTTTACATGTTGCAATAATATTTTG GATGTACAGGTTGAGCATCGCCGATCCAAAACTCTAAAATCTGAAATGTT CCAAAACCTGAAATTTTTTTAGTGCCAACATGATGCCACAAGTGGAAAAT CCCACAGCTGCCCTCATGTGATGGGTCACATATATTATTAAAAATATTGT GGTCGGGTGCAGCGGTTCACACCTGTAATCCCAACGCTTTGGGAGGCCAA GGCAGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGA	G G	stop_lost others(2): Show stop_lost conservative_inframe_deletion splice_region_variant	HIGH	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0017 a0000c0008t0017	a0000c0008t0017g0032 a0000c0008t0017g0032	2	385	0.0052	-1845	c.133 others(13): Show c.1335+726_*375del		TAPBP	ENSG00000231925.14	transcript	ENST00000434618.7	protein_coding	8/8	1759/3450	1336/1347	446/448			chr6	TogoVar
CMBL_chr5_10272595_10312902	10273117	GGGGATTA others(1837): Show GGGGATTATGGGAACTACAATTCAAGATGAGATTTGAGTGAGGACACAGC CAAACCACATCAGTCAGGCTCACATCTCTGCTTCCTGTTACTGTGCTCCT TCCCTCTCCAGAGGGGCCGAACTTTAATCTTTCTAAAATGCAAATACCAT TGATAAGTTCTGCTGCTCTCATCTAAAGGCCTGAAAAGCACATCCCCACC TTGGGACTCAGAGGGGCCAGCCCTACCGGGACTGGCTGCCCTTTTACAGA AGAAGGGGTGGGGTGATCCTGAGGCCGCAGGCATCCTTCTTGCTTGGTCT TCTAGAACAGGAATGCACTGAGTTTGCAGGTTGCTGGCGCCCCAGGACTG ATAAGACTGCCCACGTTGGCCAGGCATTGGGATAACTCTTCCCTTGGAGC AGGCTGTCCACCATCTTGCCTCTTAGGGTGCATGCTTGGGTCTGCTTGCC CAAATCCTGAGATCTTATCAGGAAGCTACTGATCACCAGCTTCAGATGTT TCTCTCTATAGGGAGACTGCCTTTCCCTGGTGCTGGCTGTGACCAAGTAT TATTTTAGAGAGACAGTTTAACAACCACCTGACCATCGCCTGATGGCCAC CTGACATTCCTGGGGAGGTAGACCTCTCCTGCCCTGCTTATGTCTTCCTG ACTACCTACTCTAACAATGCACCCCTGCAGAGTTATGTTATTTTACTGAG TTTATAGCTTTTACATTGAGAAAAACTGAGGGTCAGAGAAGCACATTGCC CAAACCCACAAGCTAAACATGAAGCATGGATACACCCAGCTTTTCCCTCC TGAGCCTCCTCTTCTCACCCTCGTCTTCCTCACACTCTCCCTCTGCCATA CCCGCCACAGCCACCTCATGGATGACTCCCAACGTTACAGAGCCACATGG GTCTCATACAACTGCCCCCCACAACCAGCCTCCACACTCCTCTTCATAGC CCACCAAAGCCCAGCTCTGTCCAGAGGGAGCGCACCCCATCCCTGGCTAA GTGAGTCAGGGTCTAATCCAATCCCGTCACCAATTCCCCTTCAGCTGATG CCCAGGTCCTCGGCCTCTCCCATGACACAGGGGGCACACAGCTGGGGGAT TTCCCTCCCTCTCTAAAACAGAGGTGCAGGAGAGAGCTCCTTCCTTCCCT TCCTGTTGTGGCTGGGATTTGTAAGGCCCTAGGGCCCAGAGAATGCAGAC ACCAACCCGGGTCCTGACACCAGGAAACCCCCAAACCACCTGAGATCCCT GGAGGACTGTGTGGGAGATACTTAAATGTTACCCTCTTAGCCACTGTCAG TCAGGTTTTCTGTTATTTGCAGCCCAAGAAAACTCAACTGATATTCCAGG CTGAACCAAACTTAAATTGTTTCCTCACAGCCCGCTTCTCTTCAGGATTC TGTGCTGGATAATTTGTGCTGGATAATCTCTAAGCCAACCTCAGGGTCTT GCTTCTTGGTGTCCTCTCAGTCTCTGCAGTAAAAGCAGTTGCATCTCTCA GCAACTCTCCACTCTGCTGCCTCGGTCAGTGTATTAGTCTGTTCTCACGC TGCTACTAAAGACATACCTGAGACTTGGTAATTTATAAAGAAAAGAAGTT TAATTGACTCACAGTTCAGCATGGCTGGGGAGGCCTCAGGAAACTTACAG TCATGGTGGAAAGGGAAGCAGGCACATCCTTCTTCACATGGCAGCAGCAA GGAGACATACAGTGCGAAGTGGGAGGAAAGCCCCTCATGAAACCATCAGA TCTTGTGAGAACTCACTCACTTTCATGAGAACAGAAGGGAGGTAACTGCC CCTATGATACAATTACCTCCCACCAAGTCCCTCCCATGACACGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00642.hp1 others(106): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02135.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18966.hp1 NA18972.hp2 NA18982.hp1 NA18995.hp2 NA18998.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0030 a0001c0001t0036 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0014 a0001c0002t0020 a0001c0002t0021 a0001c0002t0032 a0001c0002t0033 a0001c0003t0002 a0002c0004t0002	a0001c0001t0001g0010 a0001c0001t0001g0169 a0001c0001t0003g0020 others(84): Show a0001c0001t0001g0010 a0001c0001t0001g0169 a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0004g0004 a0001c0001t0010g0238 a0001c0001t0030g0250 a0001c0001t0036g0255 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0028 a0001c0002t0002g0037 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0111 a0001c0002t0002g0150 a0001c0002t0002g0163 a0001c0002t0002g0178 a0001c0002t0002g0215 a0001c0002t0002g0232 a0001c0002t0002g0241 a0001c0002t0002g0245 a0001c0002t0003g0013 a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0003g0046 a0001c0002t0003g0078 a0001c0002t0003g0080 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0107 a0001c0002t0003g0113 a0001c0002t0003g0124 a0001c0002t0003g0170 a0001c0002t0003g0177 a0001c0002t0003g0181 a0001c0002t0003g0183 a0001c0002t0003g0195 a0001c0002t0003g0242 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0013g0060 a0001c0002t0013g0063 a0001c0002t0014g0039 a0001c0002t0014g0058 a0001c0002t0020g0123 a0001c0002t0021g0231 a0001c0002t0032g0108 a0001c0002t0033g0050 a0001c0003t0002g0019 a0001c0003t0002g0048 a0001c0003t0002g0062 a0001c0003t0002g0096 a0002c0004t0002g0138	109	350	0.3114	-1844	c.54 others(11): Show c.5492_*7335del		CMBL	ENSG00000164237.9	transcript	ENST00000296658.4	protein_coding					4477		chr5	TogoVar
B3GNTL1_chr17_82937149_83056770	82974916	CCAGGGCC others(1836): Show CCAGGGCCCCAGGACAGAGCCGGACTCCATCCTCCCAGGGACCGGAGGCC ACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGG GGCCGGAGGCCACTTATGGGGAACCAGGGCCCCAGGACAGAGCCCGACTC CATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACA GAGCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAG GGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTA TGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCC GGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATC CTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGC CGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCC CGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGGAGGCCACTTATGGG GAACGAGGGCCCCGGGACAGAGCCGAACTCCATCCTCCCAGGGACCAGAG GCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCC AGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGAC TCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGA CAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCA GGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACT ATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGC CGGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAGAGCCCGACTCCAT CCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGA GCCAGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGC CCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGGAGGCCACTTATG GGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGG AGGCCACTTATGGGGAAACAGGGCCCCAGGACAGAGCCCGACTCCATCCT CCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCC AGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCC GGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTTATGGGG AAACAGGGCCCCAGGACAGAGCCGGATTCCATCCTCCCAGGGGCTGGAGG CCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCC AGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGAC TCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGA CAGAGCCGGACTCCATCCTCCCAGGGGCCAGAGGCCACTTATGGGGAAAC AGGGCCCCAGGACAGAGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCAC TTATGGGGAACAAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGA GCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19240.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0002t0016g0134 a0001c0002t0016g0135	2	266	0.0075	-1843	c.460 others(18): Show c.460-11013_460-9171del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BRSK2_chr11_1384934_1467689	1429926	CGGTCTGG others(1836): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0258 a0002c0002t0005g0258	1	360	0.0028	-1843	c.92- others(15): Show c.92-6064_92-4222del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUBPL_chr14_31556404_31866224	31745533	ATCCACCC others(1836): Show ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGTGTTGATTTCTTTTTCAGC TAGTTTGTTATTGCTGTATGTAAATGCTACTGATTTTTGTATGTTGATTT TGTATCCTGTTACTTTACTGAGTTTGTTTAGTAATTATAAGAGTTTTTTG GTGGAGTTTGTGGGGTGCACGGTAACATATTCAGGCTTATGTACAAGGCA TTTGAGGTCAGGGCATGGAAAAATACTGAGGCACTGTGTGTATGTTATTT GTGCATGAGACTAAAACTCCTTGACCCTGAAAACAGGACGGGAAGTTGAG TTCATGGTATGATAAGGAACGCTGAAAACAGCCTCCTAATAATGCAGTTT AAGTGTTTTTACAAGGCCACAGGTGTCTCACGACCCAGCCTCAAAAAAGC CATCTAGTGGATGTTTGTGGTTTAACAAGCCCTTTCTATAAGTAATTGGT GGGCGGATGCTGGGGCGGACTCTCTTAGAAAAGCTGCCCCTCACCCCGCT CAGCTGAAATTGTCTAAAAACTTCTTGGCATTCACTGCAAGCTATAAGCT CTGCAGAGTTAAGGGTTTTCTGTATAGAAAGTCATATCATCTGCAAACAG GGACAATTTGATTTCTTCTCTCCCAATTTGGATTCCCTTTATTTATTTTA TTTATCTTGCCTAATTGCTCTGGCTAGGACTTCCAGTACTGTGTGGAATA AGAGTGGCAAGAGTGGGCATCCTTGTCTTGTTCCAGTTCCTAGAGGAAAA GATTTCAACTTTTCCTCATTCAGTAAGATGTTAGCTGTGGTTTTGTCATT TATTGCCTTTATCGTGTTTAGATACATACTTTCTGTACCTAATTTATTGA GAATTTTTATCACGAATGACTGGCAAATTTTGTTAAATGCTTTTTCTGTA TTTGTTGAGATGATCATATAGTTTATGTTCTTTCTGTCAATGTGATGTGT CACAATTTGATACAAATGGTAAACCATCCTTGCATTCCTGGGATGAATCC TACTTGATCATGGTGTATCATCTTTTGAATGCACTATTAGATTTGGTTTT CTAATATTTTGTTGACAATTTTTACATCTATGCTCATCAGGGATATTGGC CTGTAGTTTTGCTTTTTTGTTGTGTTCTTGTTTGGTTTTGGTATCAGAGT AGTGCTGATACCAGACTCATAGAATGAGTTTGGAAGCATTCCTCCACTTC AGTTTTTTGAAATACTTTGAGAGGAATTGGTGTTAGTTCTTCTTTAAGAG TTTGAGGCCGAGCATGGTGGCTAACACCTGTAATCCTAGCACTTTGGGAA GCCAAGGTGGGTGGATTGTTTGAGCTCAGAAGCTTGAGACCAGCCTGGGC AATATGGTGAAACACTGTCTCTACAAAAAATATAAAAATTAGCCAGATGT GGTGGCTTGTGCCTATAGTTCCAGCTACTTGAGGGGCTGAGGCCAGAGGA TTGCCTGAGCTTAGGAGGCAAAGATTGCAGTGAGCTGAGATTGTGCCACT GTACTTCAGCCTGGGTGATACAGAGAGAGAACCTGTCTCCAAAAAAAAAA AAAAAAAAAAAGAGTTTGATAGAATTCAGCAGTAAAGCGATTCAGTCCTG GGCTTTTCTTTTTTTTTTTCTGAGTCGGAGTCTCGCTGTGTTGCCCAGGC TGGAGTGCAGTGGCACGATCTTGGCTTACTGCAAACTCTGCCTCCTGGGT TCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGACTACAGGCGC CTGCCACCACGCCCAGCTAATATTTTTTGTATTTTTAGTACAGACACAGT TTCACCATTTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02486.hp1 others(3): Show HG01884.hp1 HG02145.hp1 HG02486.hp1 HG02559.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0021 a0001c0003t0027 a0001c0002t0002 a0001c0003t0021 a0001c0003t0027	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 others(3): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0003t0021g0001 a0001c0003t0027g0019	6	268	0.0224	-1843	c.514 others(19): Show c.514-42216_514-40374del		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
POLR2F_chr22_37948699_37974312	37960945	ATCACGCC others(1835): Show ATCACGCCATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGGTG CCCACCACAACGCCTGGCTAATTTTTTTGTATTTTTAGTGGAGATGGGGT TTCACGGTGTTAGTCAGGATGGTCTCCATCTCCTGACCTTGTGATCCACC TGCCTTGGCCTCCCAAAGTACTGGGAGTACAGGCATGAGCCACCGCGCCT GGCCGGCTCAAGCAATTTTCTTGTCTCAACCTCCCAAGTAGCTTCAAGCT GGGATTACAGGTATGTGCCACTATGCCTGGCTTTGTATTTTTTGTGGAGA TAGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCAGCCTCAAGTG ATTCTCCTGCCTCAGCTCCCAAAGTGCTGGAGCTGGGATTACAAGCATGA GCAACCATTCCTGGCTTTAAGGTGGTTCTTGATGTGAGGTAGACTATGGC CAGTCCAGCAGAGTGGGGGGCCCTCCAGCTTGAAAGCACGCTAGAGAGAT GAAAGCACAGAGCAGTGGTGGGGTTTTGGGGATTTGAAAATCAGCAAACT TCCCTCCTCTCCCACATTTGGGAGAATAAAGATTCAGGAGATAGAGTAGA CAGGTGGAGATGCGAGTGTCCAATGAGTGCAGATGTGTTAGCCATAGGCA GTGCAGGCCTTCAGATGCCTGCTAAGGTTTGGGGCAGACTGGAGAACAGA CTGGAAGCACCCTCTGCCAACAGATGGCTTTGAGAAAGCAGGGACTTTCA AAGAGGCTGGGCCACAGATGCCTGCTTTTTTTCCCCCCAGGCTCACCTGT CAGAATAGTTCCTCCTCCTTTCTTTTGAGGAGTAGGTGAGGGGACAGAGC GGGGTACTCTAATGGTACTGTGGGGAAGCATGAGACTGAGAACAGGAGCC CCTACCCCAAACTCCCTATAGACTGATGTGGGAAATGGTGGGTATCTGGA GGAGCGGGGGTAGTTCAAGTAGGGAATAATGGAAATTAGCCTAGAAAGAA AAGCAGCTGGGTGCCGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGG ACGAGGCAGGTGGATTGCTTGAGCCCAGAAGTTCAAAATCAGCCTGGGCA ACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGAGTGTG GTGGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGACGTGGGAGGAT CACCTAAGGCCAGGAGGTTGAGGCTGCAGTGAACTGTGATCGCACTACTG CACACCAGCCTGAGTGACAGAGACTCCATCTCAAAACAAACAAACAAACA AACAAAAAAAAAACAAAGGAAAGCTGGGGCCAGATTTGTGGACTCTGTGT GCTTACAGGGGCAGCAAATGCTGTCTGTACATTCTCCTCCTTAGTGTTCA AGCAGCACTGGGCTGTTGCCTCCTCTAGTCCTGTAGGGGTAAAGATGACC ATCATGTCTACTTCAATAAAGGGTTTTATGGGTGGACAACATTGTTCTCC CCCATTCCTCAGTAGCGGACCTCTTCTCAGCCTGGTTGCACTCCTTGCTC TTATGCATGGCATTAGAGCCACACCCAGTGTGACAGCCATACCCAATATG CCACCAACGTCAGGATCCTCTGGGCCTGCACCATCAACTATGGTAGCCAT GAACTGTATGTGTCCATTTACATTAAGTACAATTAAATAAAATTAGAAAT TCAGTTTCTTTCTCACTAGCCAGCCACACTTCTTTTTCTTTTATTTATTT ATTTAATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTG CAGTGGCACAGTCTTGGCTCACTGCAAGCTCTGCCTCACGGGT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	404	0.0025	-1842	c.221 others(17): Show c.221+1495_221+3336del		POLR2F	ENSG00000100142.16	transcript	ENST00000442738.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
FBXL17_chr5_107854035_108387098	108212084	TCAATGAT others(1834): Show TCAATGATATCCTTTCTTCCACTTGATCAGTTCAGCTATTGAAACTTGCG TATGCTTCATGAAGTTCTCATACTGTGTTTTTCAGCTCCAGCAGGTCATT TACATTCTTCTCTACACTGGTTATTCTATTCCAGTTAGCGATTCGTCTAA CCTTTTTTCAAGGTTCTTAGCTTCCTTGCATTAAGTTAGAACCTGCTCCT TTAGCTCGGAAGAGTTTGTTATTACCAGCCTTCTGAAGCCTACTTCTGTC AATTCGTCAAACTCATTCTCCATCCAGTTTTGTTCTCTTGCTGGCGAGGA GTTGTGATCCTTTGGAGGAGAAGAGGCTTTCTGGTTTTTGGAATTTTCAG CCTTTTTGTGCTGGTTTCTCCCCATCTTTGTGATTTACCTACCTTTGCTC ATTGATTTTCGTGACCTCTGAATGGGGTCTTTGAGTCGACATGCTCTTCC TTTCTGTTTCTTAGTTTTCCTTCTGACAGTCAGGCCCCTCTGCTGCTGTC TGCTGGAGTCTGCTGGTGGTCCACCCCTGACCCTGTTTGCCTGGATATCA CCAGCAGAGGCTGCAGAACAGCAAAGATTGCCGCCTGATCTTTCCTCAGG AAGCTTCGTCCCAGAGGGGCACCTGCCAGATGCCAGCCAGAGCTCTCCTG TGTGAGATGTCTGTCAGCCCCTAGTGGGAGGTGTCTCCCAGTCAGGATAC ACAGGAGTCAGGGACCCACTTGAAGAGGCAGTCTGATCCTTAGCAGAGGT TGAATGCTGTGCTGGGAGGTACGCTGCTCTTTTCAGAGCTGTCAGGCAGG AACATTTAAGTCTGCTGAATCTTCACCCACAATTGCTCCTTTCTCCAGGT GCTCTGTCCCAGGAAGATAGGGGTTTTATCTATATGTCCCTGACAGGAAC TGTTGTCTTTTTTTTCAGAGATGCCCTGCCCAGAGAAGAGGAATCTAGAG AGGCCATGCTGAGCTGCACTGGGCTCCACCCAGTTGGAACTTCTCAGTGG CTTTGTTTACACTGTGAGCTTAAAACCGCCTACTCAAGCCTCAGCAATGG CAGGTGACCCTCCCCCTACCGAGCTTGAGCCACAGCAGGCTGCTGCTGTG CTGACAGTGAGAATTTCAAGTCAGGGGATCTTAGTTTGCTGGGCTCCATG GGAGTGGGACCCACCAAGCCAGACCACTTGGCTCCCTGGCTTCAGCACCC CTTTCCAGGGGAGTGAATGGTTCTGTCTTGCTGGTGTTCCAGGCCCCAAT GAGGCATGGAAAAAAAGAACTCCTGCAGTTAGTTCGGTGTCTGCCCAAAT GGCCGCCCAGTTTTGTGCTTGAAACCCAGAGCCCTGGTGGCATAGGCACC GCAGGGAATCTCCTGGTTTGCAGATTGCAAAGACCATGGGACAAGCGCAG TATCTGTGCTGGAGTTCCTCAGGCTCAGACTCTCATGGCTTCCGCTGGGT AGGGGAGAAAATTCCCCAATCCCTTGCGCTTCCTGGGTGAGGCAATGCCC CACCCTGCTTCAGCTTGCCCTCCATGGGCTGCAGCCACTGTCCAACCAGT CCCAGTGAGATGAACCGGGTACCTCAGTTGGAAATGCAGAAATCACCTGC CTTCTCTATCATTTTCGCTGGGAGCTGCAGACCAGAGCTGTTCCTATTCA GCCATCTTGCCAGCAATCTATGGCAAGTGTTTTTAACATTAGCCAATCTA ATACGTGTGTGGTGGTATTTTAATATAGTTTTAATTTGCATGTCCCTAAT CCCTAATGCTACTGAACATCTTTTCATGTGCTTATTTTCTTACTTAGTTT TGACAGTTCTTAATATATTCTAGACATAGTTTATCAGATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18946.hp1 HG00558.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0132 a0001c0001t0004g0131 a0001c0001t0001g0132 a0001c0001t0004g0131	2	244	0.0082	-1841	c.161 others(21): Show c.1614+10196_1614+12036del		FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	5/8						chr5	TogoVar
WDPCP_chr2_63114559_63593477	63463864	TAGAGAGA others(1834): Show TAGAGAGAGAACCCTGGAAAAGCAAAGTATCACGGACCCAATCTATAAAA CTTCCAGAAGAAAAGAGAGGAAAAGCTTTATGACATTGGGGTGGACTTCA TGATTTCTTGCATATGACACCAAAAGCACATACTACAAAAGCAAAAACAA ACAAATGGGACATCAAACTTAAAAACCTTTAGGTATCAAAAGACACAATC AACAAAATGAAAAGGTAACCTACAGAATGGGAGAAAATATTTGCAAAACA TATGAAAGAGTTAATCCTCAAAATACATTTTAAAACTCCTACAATTCAAC AACGAAAAAATCAGATAATCCAACTTAAAAATGGGCAAAGGACTTAAATA GACATTTCTACAAAGATGATATATAAATACCCAACAAGCATATGAAAAGA TACTCAACATTACTAATCATTAGATAACTGCAAATCAAAATCACAATGAA ATACTACTTCATAGCTTGATAGTAGAATGATTACTACCACAAAAACAAAC AACAACAAATCAGAAAAGATCTAGTGTTAGCAAAGATGTGGAGAAATTAG AATCCTCATGCACTCCTGGTGAGATTGTAAAATGGTGCAACCACTATGAA AATCAGTATGGTGTTTCCTCAAAAAATTAAAAATAGAACTAGCGTATGAT CTAGTGATCTCAATTCTGGGTATACATCCAAAAGAATTGAAAGCGGGGTC TTGAAGAGATATTTGCACACTCATCTTCATAGATGCACTATTCACAAACT CTAAGAGGTGGAAGCAATCCAGATGTCCACTTATGGATGAATGGAGAAAA AAAAATGTAGATACCCATACACTGGAACATTATTCAGCCTGAAAAAAAGA AGGAAATCTTGTCACATGCTACGACACGGATGAACCTTGAGGACATTATG TAAGTGAAACCAGTCAGTAACAAAAAGATATATATTGTAGGATTCCACTT AGATGGGGTATCTAAAGTTGTCAAATTCATAGAAACAGAAAGTAGAATGC TGGTTACCAGGGGTTGAGGGGAGGGGGAAAAGGGGGCATTGTTGTTTAAT GGGTATAGAGTTTCTGTTTTGCAAAATGAAAAAGTTCTGGACATCTGTTT CACAATAATGTGAATATACTTAACACACTGAACTGTACACTTAAAGATGG GCAATTGTGTTTTAAAAACACAGTACCATATGTTTTTATCACAATAAAAA AATTAATTTAAAGTTTTTTACTGAAAAAAAAGCTGACTGGGAAGATCAAA CTGACAGGTTAAATTTATTTATTATTTATTTATTTATTTATTTATTTAAA AAGCAGGTACCTGTGCCAGACACTGTGCTAAGTATTTCATATGTGTTAAC TTACTGAGTTCCCATAATAAACCTATGACTTAGGTATTTTTATTTTTGTT TGATAGCTAAATAAAAACTGGCACAAATAGATGAAGTAACTTCCCCAAAG TCACACAGCTGGGAAAGCCAAAATTTGACACCAAAAAAAATGGAGCAGTC TGTGCTTTCCACTACTATGCTGCACATCAGAGAAGTGACAGTCACATTAG GTTTGAGAAGGTTTGGATCCCACTTTGGGATCCAAAGTGAGGGCCACAGG TTCCTATTCTTTCTCAGTTCACAGTACCATTTGTGTCTCTCTAATTTTTT ACAGTGCCCCTAGGCCAAAAGAAATACCAATAGTTCCATTTATTAAATAG ATTAAAGCAACTTAATAAGTATTTATGTCCTAATAAGTTAATAGCCATTT GGAAATATAATACACAGAGATTGAAAGAAAAAGATTTTTATTTCATTCCT AAATAACTACTTACTAACAAGTTGTGTGTACTAACAGAAGAC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	216	0.0046	-1841	c.384 others(19): Show c.384+18899_384+20739del		WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	6/17						chr2	TogoVar
YIPF1_chr1_53846733_53894797	53885842	AGAAAAAG others(1833): Show AGAAAAAGAGTATAATTGGATTGTTTGTAATACAAAGGATAAATGCTTGA AGTGATGGACACCCTGTTTACCCTGATGCAATTACTACACATTACATGCC TGTATCAAAATATATGAGTGTACCCTGTAAGTATATATACCTACTACATA CCCATGAAAATTAAAAAATTTTTAAAAAGCAGTAGTTTACCAGGGGGAAG GAATGCCAGAAGGAGGAACAGACAGTACCACTTTAGAAGCACAAAGGTCA AAAAGGCCCCAAGGAGGGCGATAACTCCTCTAGTTATTGGGATCAGGAAA GGTTTCTTGGAGAAGATACCATATGAGAAGGATGGCCAGAGGTGCTGGGG ATGGCATCTCATGCAAAGGGAAGGGGATGAGCAAGACCCAGAAGATGGAA AGTGTGCCCGTGATGGAGGGACAGTGACGGCATAGTTTGACTGGAGTGTG GGCTGCGTGTACCCCTAACATGACGACTCTTCACACAGTCTGCTCTGTGC TGGTTATTCTTGTCCATCTCAGCTCCTTGAGCATAAAACTGGTATGTGTC TTATTTCTGCCACCAACATTCTCTGCTTTTACATCCTGGCATATCCTAAG CTAGTTTCAGCCTCTGCTCCTTTCCTGAAACAATGCCTTTCACCTGAAGG CTTCTGACCTCTACTTTTTCATCCAATACTACCGTTCCTCCCCGGAGAAG CCTTTCATGACCCACCCCCCGCCACCCCACCCCCAGCATCCTGTGTGCTT TTCTAAAGACCCAAGTCCTTAACACAGTTGATAAAGCCCTGGGTGATTTG TCACCTGCCTCCTCCTAAGCCTCACCTTGTGTCAGCTTTCCCCACCATCC GTGATCTGGAACACAAGTGTTCTCCCAATCCTTTAGGAAAAAAATTAAAC TTCCTCACTCCACAGGGGCTTTTGCGAGGGCCACTGTCTTTAAACTTTCT TGCACTGCACTCCTAGATAGGATGGCTGAGGAGGGTCTCTCTAATGAGGA GAGATTTGAACAGAGCAAAGAAGCAAGCCATAAGGCTATCTGAAGGGAGA ATGTCCCACACAGAAAGATGGCACAAACATCCCAAGCTGTGAATGTACTT GGTGCATAGGAAGAACCGTGACAGCCCATGCAGCTTGGGCAGAGACAGAA AGGACGAGAGCAGCAGATGAAATCAGAGGGTTGGAGGCTGCATCATATAG GGGCCTCCTAAGCCACAGTAAGGGCTCTGGCTTTTTCGTTTTTGTGTTTG TTTGTTTATGTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGCAC AGTGGTGCGATCTCGGTTCACTGCAACCTCTGGGTTTGAGCAATTCTCCT GCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCCA GCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGA CTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGGCTTTTTCTT CTAGTGAGATGGGAGCTACTGGAAGGTTCTGAAAGAATGACATGATCTGC TTGAGTTTTAGAAGGACTACTCTGGCTGCAAAGTACAGACTGTAGAGGGA TAAGGGAGGAAGCAGAAAGACCAGAAGGAAGGTAAAGGCTATAATTCAGA AAAAAGGTGACAGTGACCTTGAGCATGGTGAGAGTAGTGGTGGAGGTGGT CAGATGCTAGATGAATTTTGAAGACGAGGTTGACAGTATTTGCAAATTGA GGTGGATTTCTAGTACTTGCAAATGAAATAGATTTATCTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03225.hp1 HG02897.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0235 a0001c0001t0003g0170 a0001c0001t0003g0235	2	360	0.0056	-1840	c.31+ others(15): Show c.31+1225_32-2567del		YIPF1	ENSG00000058799.15	transcript	ENST00000072644.7	protein_coding	3/10						chr1	TogoVar
ZNF846_chr19_9750357_9773738	9759318	TGGGCTGG others(1833): Show TGGGCTGGGCACAGTGGCTCATGACTGTAATCCCAGCACTTTGGGAGGCC AAGGCAGGTGGATTGCTTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAA AATGGTGAAACCCCATCTCTACAAAAAAAAAAATAATCAGCCAGGCATGG TGGCTCATGCCTGTAGTCTCAGCTATTCAGGAGGCTGAGGCTGGAGGATC ATTTGAGCCCAGGAAACAGAGGTTGCAGTGAGCCAAGACTGCACCATTGC ACACCAGCCTGAGCAACAGAGTAAGACCTTGTCTCAAAAATAATAATAAA GTAAAAGAAATTATGCACAAAAAACTGAATAGCTGAGTTGTATGTTTGTG GATGTTTATTTGTGAGATCTCTGAGAAGAAATATGTTTGTAGTAAGTTTA GAGTGCTTCCCATATTCATGATATTCAGAGAATCTCTTCAGACTTTGTTT TCTCTGGGTAAATGCCATTTTCCTCATATAATTTTCATGAATATTGTGCT TCTTGTCCTAGTGTGGAAGATTTCATCCCTTGGAAATCTTACCAATTGTA CTCCATTTGGTGATCTTTCTGCAGAAATATCTTGCAGCAGTGGGGAGCCT TTGGTTTTGAGTTGCAAATCCAATTCTGAAATAAAGTGAAAAATGCAGCT TGGGAGAAAAATTGTGGAATAAAGTCGTTTAAAAGCCTATGGGGCTGGGC GTGGTGGCTCACACCTGTAATCCTAGCACTTTTGGAGGCCTAGATAGGTG GCTTACCTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAC ACTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGCAGTGGTGCATGC CTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCC AGAGGGTGGAGGTTGCGGTGAGGTGAGATCCACCACTGCACTCCAGCCTG GGCTACAGAGCAAGACTTCGTCTCAAAAAAAAAAAATGCCTAAGGAACAG ACATAGCATAATCAAATGTGGCAGAGTGAAGAACTACAGGGCTCTTTCCT ACCACAATATGACTAATAAGTTCAGAAAACCTATCAGAATCAACTGTGCT GGGCTGGGTGTGGTGGTTCATGCCTATAATCCCAGCACTTTGGGAGGTCA AGGTAGGTGGATCACTTGAGTTCAGGAGTTCGAGACCAGCCCGGCCAACA TGGTGAAGTGCTGTCTCTACTAAAAATACAAAAATTGGCCAGACATGGTG GTGTACACCTGTAATCCCAGCTACTCAAGTGGCTGAGTCATGAGAATCAC TTGAAACCAGGAGGCAGAGGTTGCAGTGAGTCAAGATCATGCCATTGCAC TCCAGCCTGGGTGACAGAGTGAGACTCTGTGTCAAAAAAGAAAAAAATAT ATATATACATATATATATAGCTAAGTGAAAGAAGCTAGAGAGAAAAGGTT ACATTGTATGATTCCATTTATATAAGATATACAGAAAGGGTAAATCCGTA GAGAGAGAAAGCAAATTAGTCTCTGTAGGGTGAGTGGGGACTGACTACTT GATGGGTATATGGTTTCCTTTTGGTGTGATGGTAATGCTTTGAAACTAGA CCAAGCACACTGGCTCATGCCTGTAATCCCAACACTTTGGGAGACGGAGG CAGGTGGGTCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGG TGAAACTCCATCTCTATCAAAAAACACAAAAATTCACCAGGCATGGTGGC GCACGCCTGTAGTCCCAACTACTCAGAAGGCTGAGGCAGGAGAATCACTT GAAGCCAGGAAGCTGATGGAGGTTGCAGTGAGCCAAGATGG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show HG01952.hp2 HG02055.hp1 HG02451.hp1 HG02965.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0009 a0000c0004t0009	a0000c0004t0009g0009 a0000c0004t0009g0250 a0000c0004t0009g0251 others(1): Show a0000c0004t0009g0009 a0000c0004t0009g0250 a0000c0004t0009g0251 a0000c0004t0009g0252	7	372	0.0188	-1840	c.229 others(15): Show c.229+924_312+541del		ZNF846	ENSG00000196605.7	transcript	ENST00000397902.7	protein_coding	5/6						chr19	TogoVar
PPP1R15B_chr1_204398381_204416817	204413660	TGAGACGA others(1832): Show TGAGACGAGTCTCGCTCTGTTGCCCAGGATATAGTGCAGTGGTGTGATCT CTGCTCACTGCAACCTCCGCCTTCCTGGGTTCAAACTATTATCCTGCCTC AGCCTCCCTAGTAGCTAGGACTACAGGCACATGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTAGCCAGGATGGT CTCAATTTCCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCACGTTCGGCACAACCACTTCTTTCTAGGA AGCCAAGAGGACCTCAGTTTCTGTTGTTTATCCTGTATTATTATCCATAC CTCTGGAAAATCTCAATCCTATGAACTTCAGAAAAATGTATTAATAATAG AGGTCAGTTTCATAATACAGATCCAAGTAGGCAAATTTGTTACCAGAAGC CTGTTTCTTGTAAAGTGAGGCTAGTAATTCCTCTTTCAATGGATTGGTAA GAAAACTAAGTTTTCTCAGTGCCTAGCCTAGACAGAGTAGGAGCACAAAG ATTAGCTAATATTCTTGTGTGGTTCTGCTTTACAGTCTTCAGTTGTTTCC TCATTGCCTGCAGAATAAAGGCTCTATGCAGCCTGCCCTCCCACTGTACT CTTCCAGCCTCCTCTGTCACTTGTCTTCATGCATGTTATATTCTAGGAAC ATTGGACTTACCTGTACTCCTTGCTTCCTGCCTTTACTCATGCTGTTTCT CAGCCAAGAAAAGCTTCACCTTTCCTGTTACATACCTACTCATCCTTCAA GATCCAATTCAAATGTCAGCTTCTCCTTGAAGCCTTCATTGACCTTTCCA GCCAGAATTAATGGATCCCTCACAGTACTTATATTATTCCGCTCTATTAG AGCACTTAACACATTGCATTACATATACCTGTAAGTATTCTCTCTTGCTG GTCCCTGAATTCCTTGAGGGCTGTATCCAACTATCTAGAAAAGTGGTTCC CAAAGTATGGTCTGGGCACCCCTGGGGATCCTCCTTTGAAACCCTTTCAG AGGGTCCTTAAGGCCAAAAATATTTCCATAATAATTCTCAGCTTTTTTAA CTCTCATTTTCTCATGTATGTACAGTGAAGTCTTCTGGAAGATACATGGT GTGTGAACTGTCAACAGAATGAATGCAAAAGCAGATAGATACGAGATTCT AGCTGTTTTATATTAAGCCAGATACTAAAGACATTTGGAAAAAATGTAAG ACAATGCCACTTTTCTCACTAAGCTTTTTATGTTTTGAAAAATAATTGAA CATTACCAGCCTGGGCAACATGGCAAAACCCTGTCTCTACAAAACATACA AAAATTAGCCAGGCATGACGGTGCACGCCTGTGGTCCCAGCTACTCAGGA GGCTGAGGTGGGAGGATTGCTCAAGCCTGGGAGGCAGAGGTTGCAGTGAG CCAAGATTGTGCCACTGCACTCCATCCTGGGCAACAGAGTGAGATCCTGC CTCAAAAAAAAAAAAAAAATTAACATGTAATTGGTTATTTTTAAATGAAT TTTAAAATTTTATTGTATTTTTCATTAAAGACAGAGTTTCATATGTTGCC CAGGCTGGAGTGCAGTGCGTATTCACAGGGGCAATCACAGCACACTATGG CCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTCCCAAGTAG CTGGAACGACAGGTGCACACCACCACACCCAGCCTAAATGAACATTTTTC AGTTCCTCGGTCTTGAATTCATAAATAGGAAATATTGATAGCTATAAACC ACATAAAGGTATAAAGATAGTTATTTGGGGTCCTTAGTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG02004.hp2 others(20): Show HG01109.hp2 HG01192.hp2 HG02004.hp2 HG02109.hp1 HG02293.hp2 HG02451.hp1 HG02717.hp2 HG02896.hp1 HG02922.hp1 HG03139.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18959.hp1 NA18985.hp2 NA18990.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19077.hp2 NA19089.hp1 NA19240.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0002 a0004c0009 others(1): Show a0001c0001 a0001c0002 a0004c0009 a0011c0012	a0001c0001t0002 a0001c0002t0002 a0001c0002t0013 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0013 a0004c0009t0001 a0011c0012t0002	a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0002t0002g0002 others(3): Show a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0002t0002g0002 a0001c0002t0013g0032 a0004c0009t0001g0020 a0011c0012t0002g0035	23	394	0.0584	-1839	c.-40 others(11): Show c.-4088_-2250del		PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding					1844		chr1	TogoVar
PPP1R15B_chr1_204398381_204416817	204413660	TGAGACGA others(1831): Show TGAGACGAGTCTCGCTCTGTTGCCCAGGATATAGTGCAGTGGTGTGATCT CTGCTCACTGCAACCTCCGCCTTCCTGGGTTCAAACTATTATCCTGCCTC AGCCTCCCTAGTAGCTAGGACTACAGGCACATGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTAGCCAGGATGGT CTCAATTTCCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCACGTTCGGCACAACCACTTCTTTCTAGGA AGCCAAGAGGACCTCAGTTTCTGTTGTTTATCCTGTATTATTATCCATAC CTCTGGAAAATCTCAATCCTATGAACTTCAGAAAAATGTATTAATAATAG AGGTCAGTTTCATAATACAGATCCAAGTAGGCAAATTTGTTACCAGAAGC CTGTTTCTTGTAAAGTGAGGCTAGTAATTCCTCTTTCAATGGATTGGTAA GAAAACTAAGTTTTCTCAGTGCCTAGCCTAGACAGAGTAGGAGCACAAAG ATTAGCTAATATTCTTGTGTGGTTCTGCTTTACAGTCTTCAGTTGTTTCC TCATTGCCTGCAGAATAAAGGCTCTATGCAGCCTGCCCTCCCACTGTACT CTTCCAGCCTCCTCTGTCACTTGTCTTCATGCATGTTATATTCTAGGAAC ATTGGACTTACCTGTACTCCTTGCTTCCTGCCTTTACTCATGCTGTTTCT CAGCCAAGAAAAGCTTCACCTTTCCTGTTACATACCTACTCATCCTTCAA GATCCAATTCAAATGTCAGCTTCTCCTTGAAGCCTTCATTGACCTTTCCA GCCAGAATTAATGGATCCCTCACAGTACTTATATTATTCCGCTCTATTAG AGCACTTAACACATTGCATTACATATACCTGTAAGTATTCTCTCTTGCTG GTCCCTGAATTCCTTGAGGGCTGTATCCAACTATCTAGAAAAGTGGTTCC CAAAGTATGGTCTGGGCACCCCTGGGGATCCTCCTTTGAAACCCTTTCAG AGGGTCCTTAAGGCCAAAAATATTTCCATAATAATTCTCAGCTTTTTTAA CTCTCATTTTCTCATGTATGTACAGTGAAGTCTTCTGGAAGATACATGGT GTGTGAACTGTCAACAGAATGAATGCAAAAGCAGATAGATACGAGATTCT AGCTGTTTTATATTAAGCCAGATACTAAAGACATTTGGAAAAAATGTAAG ACAATGCCACTTTTCTCACTAAGCTTTTTATGTTTTGAAAAATAATTGAA CATTACCAGCCTGGGCAACATGGCAAAACCCTGTCTCTACAAAACATACA AAAATTAGCCAGGCATGACGGTGCACGCCTGTGGTCCCAGCTACTCAGGA GGCTGAGGTGGGAGGATTGCTCAAGCCTGGGAGGCAGAGGTTGCAGTGAG CCAAGATTGTGCCACTGCACTCCATCCTGGGCAACAGAGTGAGATCCTGC CTCAAAAAAAAAAAAAAAATTAACATGTAATTGGTTATTTTTAAATGAAT TTTAAAATTTTATTGTATTTTTCATTAAAGACAGAGTTTCATATGTTGCC CAGGCTGGAGTGCAGTGCGTATTCACAGGGGCAATCACAGCACACTATGG CCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTCCCAAGTAG CTGGAACGACAGGTGCACACCACCACACCCAGCCTAAATGAACATTTTTC AGTTCCTCGGTCTTGAATTCATAAATAGGAAATATTGATAGCTATAAACC ACATAAAGGTATAAAGATAGTTATTTGGGGTCCTTAGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01346.hp2 HG01952.hp2 others(15): Show HG00423.hp1 HG01346.hp2 HG01952.hp2 HG02080.hp2 HG02572.hp2 HG02622.hp1 HG02897.hp2 HG02965.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03834.hp1 NA18906.hp1 NA18940.hp2 NA19064.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0017 a0001c0002t0002 a0001c0002t0017	a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 others(1): Show a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0017g0033	18	394	0.0457	-1838	c.-40 others(11): Show c.-4087_-2250del		PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding					1844		chr1	TogoVar
FAM90A10_chr8_7763977_7776988	7764345	GCAGGTGG others(1830): Show GCAGGTGGCAGGGGCTCCTTGGCCTCCAGTTCCCGTGACTTGGAGGGGAC TGTGGGACTGAGGAGCGCAGAGCAGAGAGCACACTCTGTGCGGTGACTCC GAAGCTCCCCGGCTGTGGCGCTTCTGTGGATGTGGGAGCCCAGGCCAGGC AGGGAGCAGATGCAGGGACTCTGCCTCATTGAATTCTGGTGAGGGACGTT GTAGTTGGCGTGGTTCTCCGGAAACGCGCCAGGAAAAGCTTCCGTGCCAG AGATTCGTTGCCTCAGAAACTGCGTGACGCGCAGGAGTCAGACTTCCGCT GGGACGTCAATAGGAAACTGGGGAATTACTGTGTATTTGCTCTCTAGATG ACTGAATAAGGGAAAAGTTAGGGAACCCTGAGAGGTGCAGCCCTTCCGCT GTGCCCCGCCCTGAGAGCAGTGTTTCGGACGCTGGGAAGCGTGCTGTGCG AAGCGCTCTCGGGGTCTTTCCTCAGCCTCGAAAACTGGGCTCTGGAATGC CTTTGTACATATGTGTGTTTAATGTGTTTTGAAGTGAATAAAATTCTCAA GAAGATGACATATTGTCTTTTGACTCTCATTCCGTGTTTGTGTGTAACTG ATTTTCCAAGTGAAGGGGTGGCCTGCCCCTCCACACCTGTGGGTGTTTCT AGTCGGGTGGGATGAGAGACGGAGAAAAGAAATAAGACACAGAGACAAAG TATAGGGAGACAACAGTGGGTCCAGGGGACCGGCACTCAGCACACCTAGG ACCTGCACCGGCACCGGCCTCTGAGTTCCCGCAGTTTTTATTGATTGTGA TTTTCATTATTTCAGCACAAAGGAATGCAGTAGGGGAGCAGGGTGATAAT AAGGGGAAGGTCAACAAAAACAACACAAAACAAACACGTGAGCAAAAGAA TCCATATCATTATTAAGTTCAAGGGAAGGTACTATGCCTGGACGTGCACG TAGGCCAGATTTATGTTTCTCTCCACACAAATATCTCAGCGGAGTAAAGA ATAACAAGGCAGCATTACTGCCAACATGTCTCGCCTCCCGCCACAGGGCA GCTTTTCGCCGAGCTCAGAGTTGAACAAATGTACGATCGGGCTTTACACC GAGACATTCAGTTCCCAGGGGCAAGCAGGAGACAGTGGCCTTCCTCCATC TGAACTGCAAGAGGCGTTCCTCTTTGACTAATCCACCTCAGCACAGACCC ATTGCGGGTGTCAGGCTAGGGGACATTCAGGACTTTCCCATCCCACGAGG CCATATTTCAGACTGTCACATGGGGAGAAACCTTGGACAATACCCTGCTT TCAAGGGCAGAGGTCCCTGTGGCTTTCCACGGTGCATTGCACCCCTGGTT TATTGAGACTAGAGAATGGCAATGACTTCTACCAAGTATACTGCTCGTAA ACATTTGGTTAACAAGGCGCGTCCTGCACAGCCCTAGATCCCTTAAACCT CGATTTTATACAACACAGGTTTTTGTGAGCTCCAAGTTGGGTCAAAGGAA GGGGCTGCGGCAAGGCAACAAATGAACAACATCTCAGCAAAGCAATTGTT TAAACTACAGGTCTTTTTCAAAATGGAGTCTCTTATGTCTTCCCCTTCTA CATAGACACAGTGACAGTCTGATCTCTCTTTCTTTACCCTACATCCAAGG GCTTGAACATTTCTTGACTTGTTGGCAATCCAAATCGTTACGTCTCCGAA ACAGAGTTGACTGAGGGGACCGCAGGGCTGGGCAGGACCTTTGACTTCCT ATACATCCACAGGAGCAAGAAAACCTCAGCCCCACTCTACCAACACGCAC CTAGTAAAATTCCGCCAACCGAATCTCACGCACGCTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 NA18982.hp2 HG01258.hp2 NA18982.hp2	a0007 a0008 a0007 a0008	a0007c0008 a0008c0022 a0007c0008 a0008c0022	a0007c0008t0000 a0008c0022t0000 a0007c0008t0000 a0008c0022t0000	a0007c0008t0000g0001 a0008c0022t0000g0009 a0007c0008t0000g0001 a0008c0022t0000g0009	2	127	0.0158	-1837	c.-46 others(11): Show c.-4631_-2795del		FAM90A10	ENSG00000285950.1	transcript	ENST00000533716.2	protein_coding					4631		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79919593	CCGAGGGA others(1830): Show CCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT GGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAG AGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCA GAGGAGGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGA CAGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGG TCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAG AGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCA GGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAG GAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAAC CGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAG TGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGA GAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAG ACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACC GAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGG AGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGA GGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGT GGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACG GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAG ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03471.hp1 NA21309.hp2 HG02818.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0044 a0001c0001t0014 a0001c0001t0015 a0001c0001t0044	a0001c0001t0014g0316 a0001c0001t0015g0270 a0001c0001t0044g0314 a0001c0001t0014g0316 a0001c0001t0015g0270 a0001c0001t0044g0314	3	352	0.0085	-1837	c.392 others(16): Show c.392-2030_392-194del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
TIAM2_chr6_154990315_155262723	154991201	GGGTAGAT others(1830): Show GGGTAGATTCTTCTGTAATTCCCTTCTGGTTCCTTAGCCTTCTGTCAAGT TTTGTTGACTCTCACCTCTTGGTCTTACCTGTGAAAACTAGGAGAGGAGG CACCCTGTGCCTCCAGGTGAGGCGAAGCCCTTGGGGTAGGAATGCATAGA GACAATTGCAGCCAAGGGAGTCATGGACAGGAACAAAACTGCCGGCTGAG GGACACGTGCCAGCAAGGAGAGACGTGTAGCAATGTTAGTATTCATCTGG AATGTGCTGGAAGAGTTTGGGAGGGGAAACTGGATGATGCCTGGACTTCC TGAGCCTGTAGAATATGCTGGTTAGTGGATCATGGTCTCTTAGCCCCAGG TTCATCCTTTTCACCTTCTCTGTAAAAATGAATCTGGGCTTTATTATTAT TATTATTATTATTATTATTATTATTATTTGAGATGGAGTCTCACTCTGTT GCCCGGAGTGGAGTGCAGTGGCATGATGTCGGCTCACTGCAGCCTCTGTC TCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCCCCCGAGTAGCTGGGATT ACAGGTGCACGTCAGCACAGCTGGCTAATTTTTGTATTTTTAGTAGAGAT GGGGTCTCACCACATTGGCCAGGATGGTATTATTATTATTTTTTGAGACA GAATCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCAC TGCAACCTCTACCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCATCCTG AGTAGCTGGGATTACAGGCGCGCGCCACCATGCCTGGCTAATTTTTGTTT TTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTC CTGACCTCAGGTGATCCACCTGCCTCGGCCCCCTGAAGTGCTGGGATTAC AGGCATGAGCCACTGCACCCAGCCAGATCTAGACCTTTTAAACAACTGCC TTTGCCAGCTGGCTTGTTGTTAAGCATAGTGGACATGGGGCATGGGAGAG ACACTGCAGGAGGACAGAGCTTTGCCTCCGGGTTGCCAAGCTTCTGCTCA GCAGGCTCCTGCAGCTTGGGAGGCTTCTCTGGGAGCATCCAGAAGCCACC TGTTTCTTCCAGAACCCTGCTTTTGTAGGTGCATTTGTAGTGAAAAGCCT CCATGAGACGCCTCCCTGTGAACAGCTTTCTTCATACTCTAAAGGGTAGA TATCCAGCAAGTTCTAAAGGTTGGATTACCAGCAAGTTCCACTGGAAGAC ACCTCAGTGACCTCTCTGCCATTTAGTGAACCATAGCTGTGCCCTCCCCA ACAGGGTCTGGGTCTCAACCCCAGGGGAAGGAGAAGCTTCCCTTGGGTGC ACTCTCTCAGCCCTGGGGCAATGACTGCTCCTTCAGTCCTTCCATCTGCT GTTCCTATTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTGCGACGGAGT TTCCCTATTGGAATGCAATGGCGTGACCTTGGCTCACCGCAACCTCCACC TCCCGGGTTCAAGCGAATCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATT ACAGGCATATGCCACTATCCCCGGCTAATTTTGTATTTTTGGTAGAGACA GGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACCTCAGGTGA TCTGCCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACT GCGCCTGGCCTGCTCTTCCCATTTTCTTTTGTCTTTCTTACTAACCTAGT CAATCCCCCACTACTCCAAGTCCCGTTATAGTTAATAATTCTTTGTATTA AACTTTCACTGTTGAAATCATTGTGTAGCCTCTCTCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01175.hp1 HG01433.hp1 HG01167.hp1 HG01175.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0014 a0001c0018t0007 a0001c0001t0014 a0001c0018t0007	a0001c0001t0014g0228 a0001c0018t0007g0220 a0001c0018t0007g0221 a0001c0001t0014g0228 a0001c0018t0007g0220 a0001c0018t0007g0221	3	230	0.0130	-1837	c.-44 others(11): Show c.-4499_-2663del		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding					4113		chr6	TogoVar
C2CD6_chr2_201482421_201624178	201502901	TTTTTTTT others(1829): Show TTTTTTTTCTATTTGTGTTTCATTTTTGTGTAGCTCCTAATCCTCTGTCT TCAGGTTCAGTGATCTTATCTTCTGCAGCATCTAATATGTTGTTAATCTC TTAAAGGTTACTATTTCAGATATTTTTTATCTCTAAAAATTCCTTTGGGG TTAATTATACCCTCTATTTTTTTCCTCATCATACTCACGTTTCCTCTACC TTCTTGAACGTATGAACTATATTTATAATGGCTCTCTTAACATTCTGTTC TATCATTGATGTCATTTCAGGATCTTTTTCTATTATTTGATTTTTCCCTA CATAATGAGTCATATTTTATTGCTTTTTTATATGCCCAGTATTTTTTAAA AATACATTTTATTATTTCATTGTTTAGACACTAGGTCTCACTATGTTGCT CAGTCTGGATTCAAACCCCAGGGCTCAAATGATCTTCCTGCTTGAGCCTC CTGAGTAGCTGGGACTTCAGGCACACATTGCTGGTATACCTGGTAATTTT AAAATTTAACTTAAGAGACAGAGTCTCACTCTGTTGCCCAAGTGGGAGTG CAGTTGCAAAATCAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGTGAT CCTACTGCCTCAGCCTTCTGAGTAGCTGGAACTATAGGGGGGCACCACCA CACCTGGCTAATTTTAAAAATTTATTTTGTAGACACAGGGTCTTGCTTTG TTACCCAGGCTGGTCTTGAATTCCTGACCTTAAGCAATCCTCCTACCTCA GCCTCCCAAAGTCCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGCCGAA CACCTGGTAACATTGTATTGAATGTTAGGAATTGTGGATTTTATGTTGTT GATTGATAAATTTTTTTTTCTTTCTTTTAAATCGTTTTGAATTTGCTCTT ATGCACATTTAAATTACTTGGAATTAGTTGGGTTCTTTTAAGATTTATTG CATAGAAGGTTGTCTAGAGAAACTTTTAGTGGAGCTTTAGAAGGGGCTGA TTTAGCCTCTCTACAAAGGTGATACCCTTCTAAGGATTCTACTTACTCTC ATGTGTTATGAGTCTTTCCACTCTGGCTGATGAGAATATGGAATTATTGG AAGTCCTGTGTGAGTACCTATAATTTTCTACCTTATCTTTCCAGTGGTTC TTTTCCTTGCTTTCAGTAATTTTCTGCTTAGATCAGTATTCAGCCAAAGA CTCCAGAGGAACTTCTTTACAGTTATCTGGAGCTTTCTTGCTGCTGTAGT TTTTTCTCTTCTGGTACCCTACCAGTTCGCCTCTGTCTGCTAAATTTCAG ACTCTATCTCCTCAACCCAATGAGATCTCCAAGTTCTGTTTGGCTTCCCG CTCCTGTGCTGCTGCCTTCAGGCAGTAAACTAGTACAATTATAAGGCTCA CTTTGTCCCTGTAGTGAACTCTTCAATTTTATGTTGCCTTGACATCCATT TTGAATACAAGTTTAAATTTCTCATACCAGAAATAGAGCTTGGTCACTCT TGACACAGTTTTCAATTCTATACCATGCCCAAATAGCTCAAGATGGCGGC CAGAGATTAGAACTCAGAGGCATCTCTCCTACCTGGCAGACTGAGTTCCC TGCTTTCGCACCACTTCCTTTAAATGGACCATTCAGGAATTTACCCACAA ACTTAAAGTGACCCATGCCCTATTCTCTGTCACATGCTCTTCTCTCTCTC TCTGTCTGACTTTTCATTCCTGCTTCTCATGACCCAGGGACTGACGGACT GCCCTCCTGACTCACTGTGCCCTCCTTGCCCAGGATCTATAAGTAAAAAA TCTTTGAACTTGTTTCCTATTGTGGTGGTATGCAAAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	270	0.0037	-1836	c.150 others(19): Show c.1507-8768_1507-6933del		C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	13/15						chr2	TogoVar

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Search Results (Total: 2609 hits)