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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GSG1L_chr16_27782528_28068714	27869114	GGGTCTCC others(1960): Show GGGTCTCCTGCATTGATGGGGCTCCTCACTGAGGATGGGCTCAGCTCTCC TCTGATCTTCTAGGACCTTCCTTGGACGGGTAAGAAAAAGGCTACAGGTG AGTGGAAGTTATGGAGGTGGAGAGAACAGAAGAAGGAGGGCCTTCAAGGC TCCGGGAATTGCAGAGGGGTTTTGAGGAGAGTCAGTGGCCTTCCCTCTCA TAGGATTAACACTTTGATGATGGGCTGGTATATAGCAGGTGCTCAGTAAA TGTCGGCCCATTTGCTGCTGTTTGCTCCCTGTGTCTCTCTTGTTCCTCCT TTTTCTCTCACTTCCTTCTTCCTCCCTCCATCTTTCTCTGCTTCTCTCTC TCTGTCTCCCTCCATCTCTCTCTCTCCTTCTCTCTCTCTCTGTCTCTGTC TCCATCCATCTCTCTCTCCTCTCTCTCTGTCTCCCTTCATCTCTCTCTCC TCTCTGTCTCCCTCACTCCCTCTCCTTCTCTCTGTCTCTGTCTCCATCTC TCTCTCCTCTCTGCGTCTCCATCTCTCTCTCCTCTCTGTCTTCCTCCATC TCTCTCTCTCTCCTTCTCTCTCTGTCTCTGTCTCCCTCCATTTCTCTCTC CTTCTCTCTCTGTCTCTGTCTCCCTCCATCTCTCTCTCCTTCTCTGTCTC TGTCTCCCTCTAGCTCTCTCTCCTTCTCTCTTTGTCTCTGTCTCCCTCCA TCTCTCTCTCTCTGTCTCCCTCCATCTCTCTCTCCATCTCTCTCTGTCTC TGTCTCCCTCCATCTCTCTGTCTCTGTCTCCCTCCATCTCTCTCTGTCTC TGTCTCCCTCCATCTCTCTCTGTCTCTGTCTCCCTCCATCTCTCTCTCTC CTTCTCTCTCTCTCTCTGTCTCTGCCTCTGTCCATCTCTCTTTCCTTTTC TCTGTCTCCCTCCATCTCTCTGTCTCCTTCTCTCTCTCTGTCTCTGCCTC TCTCCATCTCTCTTTCCTTTTCTCCCTCTGTCTCCTTCCATCTCTTCTCT CCTCTCTCTGTCTGTCTCTGTGTCTCTCCATCTCTCTTTCCTTCTCTCTC TGTCTCCCTCCCTCTCTCCTTCTCTCTCTGTCTCTGTCTCCTTCTGTTTC TCTTTCCATCTCTCTGTCTCTCTCCATCTCTCTCTGTCTCTGTCTCCCTC CATCTCTCTCTCCATCTTTCTGTCTCTGTCTCCATCTCTCTCTCTCCTCT CTCTCTGTCTCTGTCTCCCTCCATCTGTCTCTCCTTCTGTCTCTCTGTCT CGTCCATCACTCTCTCTTTCTCTCTCTCTGTCTCCCTCCATCTCTCTCTC CTTCTCTCTCTGTCTGTCTCCATCCATCTCTCTCTCTCTGTGTTCTTTTC TCTCTCTCCTTAAGTGTGTGTCTCCCTCTGTCCCAGGGGCCTGTTCATCA TCTTCCTCTGCCTCCCATCTCCTGCTCCATCTCTTACCTTATCAGGGGCC CTCCACTCTCCTCTCTTCCCTTCCCCGCCCTCCTAGCCCTGCAAAGACTG AGATGTGATGATGGAGTATTTCCTGCAGGAGGTCCTGCCTCAAACCTCAC ACGCCCAGAATGCACCACTGTCCTCCTTCAATGCTCTTGCCCTCATGGGA TGACTCCCCTGTTTCCCCATCATGGTCGCAGCCTGGCATCTGCATCCTCC ATGACTCCCACCCTTGCCCTGCAGTTTGTGGACCATCAAGTCCTGCCAGT TCTGCTTCTCTGGAGCCCATCCACAGTCCTCCGTTCCCTCTGCCACCATC TCCTTGTGGCCAGACACCTGCAGTCACCTCTTAGCCGTGCTCTCCAGCCT GTACCGGCCCTGCCTGCCCTTCCTGTACCCCAACAACAGTCTTTGTGAGA CTCACCCTGACCTTGTCACTCCTTCACTTAAAGCCCTTGGTGGTTTCTCA TTGCACCCCCACACTTCCTAGCCTGGCATCCAAGTCCAGCCATGACCTGA CCTCACTTTCCCCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03471.hp1 others(2): Show HG02145.hp2 HG02970.hp2 HG03471.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0006g0021 a0001c0001t0006g0164 others(2): Show a0001c0001t0001g0023 a0001c0001t0006g0021 a0001c0001t0006g0164 a0001c0001t0010g0024 a0001c0002t0001g0013	5	240	0.0208	-1967	c.550 others(19): Show c.550+13405_550+15371del	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6			chr16	TogoVar
SH3D19_chr4_151115281_151330605	151167036	CTAGCTAA others(1960): Show CTAGCTAAAATTATTATTATGCTACTGAGGAAAAAAAAAATAGATGACTC CTCTGTGGAATCTTACCAGCTCACAGTGAGTGAGGCTAGTCTTACGTTAA AAAAACCAACTCAAGATTATCAAAAGAATGTCATCAAACTCAAAAAAAAA CTACTATATTAATAATATAACTTTTTTCCACTGTGACCTATGTCACCCAT AAAACAAAGCTCCTGTTTTTAGATTTAACCAAATTCCTTAATTCTTTAAT TTATTATAACAAATATATAACAAGTATAATAGTACTTTTTTTACTTCACA GAAATATTTGTTGTAAAAGTGAGAAACATTAAGAATTATATAAAATAGAA AAAGAAAACCTCTTGTAATCTCATCTCTCTAAAATTAATTATTGTCTAAA ATTTGGTATATCTGTCCATGTATTTTCTATAAATATTACATGTATTATTA TTATATAAATATTTTGAAAAACAAACCCAGGATCATTTTATATCAATTTC TTTGTAGTTTTATATCAATTTCTTAGCACTTTTATATCAATTTCTTTGTA GCAGTTTTGTTCATTCAATATTGACTGGGTGCCTGCTATGCATTAAACAC TATTTTACGGCTTCCGCCCTGTCTGGGACGTGAGGAGTGTCTCTGCCCGA CCGCCGCCCCATCTGGGAAGTGAGGAGCGCCTCTGCCCGGCCGCCCCACC GTCTGGGAAGTGAGGAGCGCCTCTTACTGGCCACCCCGTCTGGGAAGTGA GGAGCGCCTCTGCCTGGCTGCCGCCCCATCTGGGAAGTAAGGAGCGCCTC TGCCAGGCCGCCCCACCGTCTGGGAAGTGAGGAGCGCCTCTTACCGGCTG CCCCGTCTGGGAAGTGAGGCGCGCCTCTGCCCGGCCGCTGTGCAACCTTC CAAGTGTGAAGTGACAGCCTTGTGTGTGATCTTTTCTGTCTTCCCCAAGT TTGCATTTTCAACATTAAACTTTACTTTTTAGTTAAAAAAACAAAACAAA ACAAAACACTATTTTAGGTGCTGGGAATATAGCAGTGAACAAAGCACAGA ACTCTGCCTTCATGGAGCTTGCATTCCAGCAGGAAGATCGAGACAAGAAA CAATACATGTAACAGATAAGCAATTCACGAGGTTTATTAGAAGGTGAGAA GTATATTGAAAAAGGTGAGAAGTATATTGAAAAATGAAAAAGCAGAACAA GGTGAGGAACTTCAGTTGTGGGCAGAAGGGAAGCAGGTTGCAGAAGGAAA CATGAGTGCAGCAGGTGAGGCAGGTGACATTGTCTTTCCAAAAACTGGAT TTTACATATTTGAATAGTTCTTCCAATAATCATTCACGGTGTCTTATCTT TCGAGTAGCATTTCTTTTTTTTTTTTTTTTGAGACACGGTCTCACTCTCA CCCACTCCCTCTGTCTCACGGTGTCACTCTGTCATTCCACCCAGGCTGGA GCGCAGTGGTGCAATCACGACTCATTGCAGCCTCAACCTCCTGGGCTCAA GCAATCCTCCCACCTCAGCCTCCTGAGTATCTGGTACTACAGGAATGTGC CACCATGCCTGGCTAATTTTTATTTTTTGTAGAGATGAGGTTTCACTGTG TTGTCCAGGCTGGTCTTGACCTCTTGGGCTCAAGTGATCCTCCCACCTTG GCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCTGGCCTGA AGTGCTATTTCTTTAACAGCTGCTTTTGGTATCAATACCCTGTTGGTTAT TAGTTTAAAATTTTAGTCAATGATGCTTTTTGGGTGGGTGTGAAGGGGGA AGAAAATCTTGAGCATGTAATGACTTAAATTGTTTCCCAAATCAAATTAA ATTCTGGGCCAGTATAAGACCTACACACTCACATTTCACAAGTGAGGGCA TGGATGGGGGTAGGGGCAGGCAGGGAAAGGAGAAAAGAGGACAATCAGCA CCCCTGAGGGGCTGAACA	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0148 a0014c0015t0001g0148	1	282	0.0036	-1967	c.153 others(19): Show c.1535-3307_1535-1341del	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	7/19			chr4	TogoVar
CHST12_chr7_2398611_2453484	2427950	GGGACTAC others(1959): Show GGGACTACAGGCACCCGTCACCATGGCCAGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTTGGATCTCCTGACCTCGTGATCCACCC ACCTCGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGTCACTATGCTGT GATTCTTTCTATACACTGCTGGATTTGGTTTATTAATATTTTGAGCATTT TTGCATCCAAGTTCATAAGTGATATTGGCCTGTAGCTTTCTCTCTCTCTT TTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATCACCCAGGCTGGAGTGC AGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCTCGGGTTCAAGTGA TTTTCCTGCCTCAGCCTCCTGAGTATCTGGGATTACAGGCGTCCACCACC ATGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGTATTGTGGGATC TGGCCAGAAGCCCACAATGCAACGGGGCTCTTTTATTTGTTCCCAGGCGG ATCAGCAGGTCGAGAAATAATAGACACACACAAGACAGTGAAAGCTGGGT CCGGGGGGTGACCGCCTTCTGGTCCTGCGATGCCGCCAATGCACTGGATA TACCAGCATTTATTATTAAGTTTAGTGAGGGCGGGGGTAGGTTAGTGAGG GATTTAGGGTCATTTGATTATGAGGTGAGATGGTCACATGGGGATGAAGT AATTCTTTAACATAACATCTGTATGCAGAAGTACAGTATACAGAGATAAG AATTTACAATATAGCATGTGCATCAGTAATTTCTAACAGCCTTAAAACAG AAACACAGGCTTTCCATAACCTATGATTAGCAAGATATTAATCAGCAGTA ATAGTTGCAGCAAAAGCTGGTTACAAACAATCCATAGAAACAGGACGTGA AGCTAGACAGCCAGTTAGACCAGAAATTCTCAGAAGGGAGTATGCCTTAA CCCTAAAGAGGCCTAGAAGAGCCGTGGCAAGATGAGGGCGTTTATAGCAC TATCTTATCCATATGGACAGGCGCCCCCCATGCGTCCGTTTGTAGGCTCT CCACAAGGGTCGCATTCCATTCCCAGAGCTATGAACATCTGCTTTTCTGG GATAGGAATCTTGGTGATGTGAAAGCTCCCTGACTGCATGTCCGTTCATA GGCTCTCTGCAGGGGGAAGCATATCACGTGCTGTTGGCTCATTCTGACAG TCCAACCTGGCATTGTCTTTACACAATCCTGAATGCAACTTTGTATTTAC AGTAATCAGGAGCATTTCATCTTTTATTCCATAGCAATAGTTTCAGGGGG TCTCCCTACAAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACT CCTTGACCTCAGGTGTTCCTCCTGCCTCAGCCTACCAAAGTGCTAGGATT ACAAGCGTGAGCCACGACGCCCGGCCTCTTTTTTTTTGTACTTATTTTCA CTGGTTTGGGTATTAGGATGATGAGTTGGACATGTCCTCTCTTCTCCTTT CTGTAAGAGATTGTATAAAATTGATGTTGTTATTCTTTGAATGTTTGATA GAATTCTTCAGTGAAACCATCTGGGCCCAGAGATTTCTTTTTAAGGAGCT TTTACGTTACAAATTTAGTTTCTTTAATTAGTATAGGATTATTCATTTTG GTAGTTTGTGGTTGTCAAGGAATTGGTCTGTTTCATCTAGGTTGCTAAAT TTGTGGGCGTAAAATTGTTTGTAATAGTTCCTTATCCTTTCAATGGCTGC AGGATCTATAATTTCATTCCTTGTCTTGTTCCTGATAAAGATAATTTGTA GGTTTTTTTCATTTGTTTGGTTGGTTTTTTGTTTTTGTTTTTCTTTTGAG ACAGGGTCTTGGTCTTGCTAAGACCAAGGCTGGAGGGCAGTGGCACGATC TCGGCTTACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTC AGCCTCCAGAGTAGCTA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0126 a0001c0001t0112g0126	1	344	0.0029	-1966	c.-77 others(17): Show c.-77-4602_-77-2637del	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQSEC3_chr12_61767_183455	131099	CGCCATCT others(1959): Show CGCCATCTTTCAGCGGCCTCTTCAGGCTCAGCTGCCACAGCAACCTGAAA GAAGGGGGCACGTTCTAATTAACACTGAGAGGCTCATTAGAGAGACGGAG GCCCCCGCGCCCCTGCCGCTGCTTCTTCTGGCAGAAGCTGAGAAATTGCT CTCTTGGCAGGGGGCGAGGCCATCATTCCTCCTGGTTCCTGGGGTTTAGA GGGAAGTGAGCAGAGCTGCTCCCTGGCCTACAGGCCCAGAGACCCCCCAC TCCCTGGGGCTGCCTACCCTCCCGCACCTCTCTCTGCTCTCTGACCTGGC CCTGGTTCAGAACGGGATTGGGGTAGACGGGAGGGCCTCGCTGTCATGGA TGGAGCTGACCTGGGCCATTACTGAGTCCCCAGGTCCTGCCAGGATGCCA GGGTGGGAGGAAGGATGGAGTGCTGGGTTCCAAGCCCCGGCCTGGACAAG AGTCTGGAATTTGATTTCCCTGGGGTCACAAGAGAGAATTCAGTTTAGTT CATGTCTGCAAACACTTATTCAGCCTCAGCCACAGGTCTGGCACAGCACT GGGCACAAGAGATGCAGAGACAGATGTCTTGCCTGTGATGGACAGTCCGC AGCGAGAGCTCTGAGCAGGGGGTGGCACTGAGCATTGAGGGTGGGGAGGA AGGTGGCACTGAGCATTGAGGGTGGGGAGGAAGGTGTAGGGGACAGTGCA GGTTGGGGGCCTGGCAGGCCCAACTCTGGGATCAGTGGGAGTTGGTTGAT AAATGGGTTAGGACACACGATGGTGAACCCGGAACTGAATTCCAGTGTTA TTCAGGGAGCAGTTGCTCCATGCCAGTTAAGGTGCTCGGTGCTGGACAGG ATGACTAAGACATATTTGATGCCGTGAATAACTTATGCTCTGTTGGAGCC TGGGGGAGGGAAAGGGAGGGAAGGATGGGTTGGAGAAATGCCACAAAGAT TAGTGGAGGAGACTGAGTGTCAAAGAGAAATTGGGGCCCGAGGCAGGGAG ACCCCGTCTGTTCGGGGCATTGAGAGGGCTGCATGGAGGAGACACATTTG AGATAGGTCTCGAAGAAGAGGACATTTCTACCTGGAGGAAAGGGGAGGCT GGGAGTTGAGGTTGGGGAGAGCATTGCAGGCTGGGAGAGAACACAAATGA GTCCCCAAGCAGGGAGCCTCGTGGGGGCGGTCGGGGGAGAGCAGGCAGGA GCTGCTGAGCAATGTGGACTTTGTGGAGTAGGACTTTGTGGCCCAGCCAG ATTGTTAGGGTTGGAAAACCAGGAAGAAGCGTTTTTATCTGTTTGGGGCA ATGGTTCTCAAACAAAGAAAAGCCTGTGTTGACACCTGCTGTCTGAGAGC TTGGGTCTGGTTCTGCAGTGTAAGGTGATGGTGGGAGTAAGAAGGACACA GAGATAGTAAGGATGCTGCTGGCATGGTCCAAGTGGGAAGAAAAAGAGCC CTACGTGGTGACATTCTGGAAGGATATCATGGATGATTGCAAAAGGTATA GGGGTGGGGGGTCCCAGGAGCTACAGGAGGCTGACAAACACAGTGGACAG GGCAAACGAAAACCCCAGGACAAGGCAAGTTTCCCAGGCTGGGTGCTTGT CAGGCCAATAAGGAAGTCAACAAGAGCTGGTTTGGGTGAGGTAGGGAAAA CAGTGGCATAGCCTAGATGGACAGAGGATACACAGGCTGCTGGAAATGTG GGTCTAGGATCAAGGCTAGGTATGGAGGCTTGAGAGTCATTCCCATCATT GTCACTGTCACCATTAAGCAGCTACCACTTATGAAGCTCCTGCTCTCTGC TGGGTGCTCCATGAAATAATTTAATCCTCACAAGAAGATACAGGGTCAGC AGGATAAACCCCACTTAATAGATATGAAAACTGAGAGTCAAAGATGTTAA ATTCATCCAAGTCCAATCAGCTGGGATCTGGGGCTGGCCATTCCCCTTAC TTGCCACTTGCTCACTG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0034 a0001c0019t0034	a0001c0019t0034g0244 a0001c0019t0034g0244	1	282	0.0036	-1966	c.903 others(17): Show c.903+5191_904-5199del	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARHGAP8_chr22_44747575_44867784	44863015	GGGGTGAC others(1958): Show GGGGTGACTCTGTTCTCCCCCAGGTGTCCCAAGTCCTTCCAATGGCCAAA CGGGGCACATTCTTACAACATAGGTCCAGGTGCACACACAAGCGCTATTG CAAGCAGTTTTCATGCTTTGACTGGCGTCCTGTATGCTCACATCTCATTG GCCAAAGCAAGCCTGGTGGCCAAGGCCAGGGTCACAGAGGGAGGGCCCTG CAAAGGGGGTGGATATGGGGAGGGTGAAGAATTGGGCATAAAGCAGCCAA GCTGCCCGAGGGCTCTGGGGTGCGACAGGACTCTGCAGTCTCAGGCAGGC TGACTCTTGGGCTGGCAAAACGGGCCCTGTATTTCCATCAGATATGGTAG AGAAGGATACAACTTCTTAGTGCCACAGTCCCAGCAAAAAAGCCCCAGGT TCACCCTGATTGGACAAGCCTAGGTCACATGCTCACCTTAGACCCATTGC TGCAGCCAGGGAAGGCTCTGATTGGCTTAGGCCTGAGTCTTGTGCCCCAC CCAGACCAGGCAGTGGGGGAGGAGTGGCAGGCCGCTGCAGGGGATTACCC ACGAGTCCCACGCTGCCGTCTCCCCAGCTCTTGATGCAGGGAGAAGCGGG GGAGGTTCTGGGGAGCAAAGGACAAAAGTCCCCTCTACAGATCCCCCATG GTGGCCCCTCCGTGCCTGCTTGGGGTGTTGACCGAGTTGTGCCGGGACCC CCGGTACGCGTTAGGATGCTTGGGGGAATCACTGGCAGCCCCAGGCCAAA CCCACACCCAGGGCTCTCCTCTGAAACTTAGAGGGTGCGGTCTCCTCGCT GGCCTCCCTCTTCACTTGTGTGTCTTCCCATTATTCCCCTGCCCCTCATC TGCCGCTGTGTGTGTTCTACCCTGCTGGTGCTCGCTGTCCTTAAGGGAGG GGCTCGTGTGGCTGCTGAGCGACCCCCCACGCCCTGCCTTCAGAACATGG ATGGTACAGGGTCACGGGCATGGGGACAGGGATGGGGAGGGTTGCAGAAT GGCCGTTACACCCCCTGGTAAGCTTCGTGCCATCCCAGCTGGGGATGGAG TCCCCAAATGACACCCCTCTTCTCTGCCCAAGCTCAGAACCTACCTGAGT CACACGGTATATTACTGACGGCCAATGCCTATGTTCTGCAGCAATCTCAA TCCTTGCCTCCTCAGAAGAAAGAGTTCGACTGGCCGGGCGCGGTGACTCA CGCCTGTAATCCCAGCACTTTAGGAAGCCAAGGCAGTTGCATCACCTGAG GTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCAAGTGTGGTGGAGCACACCTGTAGTCCCA GCTACTCGGGAGGCCGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAG GTTGCAGTGAGCCAAGATCGTGCCAGGGCATTCCAGTCTGGGCAACAGAG TGAGACTCCGTCTCAAAAAAATAAAAAAGAGAGTTCAACTGAGGGGCATA AGGATGAGTGAGAGACCGAGGACCGAGGCAAGTTTTAGAGCAGGAGTGAA AGTGTATTAAAAAACTTTAAAGCAGGAACGAAAGGAAGAAAAGTACCCTT GGAAGAAGACCAAGCGGGCGACTTGAGAGATCAAGTGGGTGGTTTGACCT TCGACCTAGGGTAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCAC TTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCCAGAGTTCAAGACCA GCCTGGCCAACATGGTGAAACCTTGTGTTTACTTGTCTACTCAAAATATG AAAATTAGCCAGGCAGGGGGGCAGTGGGGCCAGGGGGATGCCCAAGCCCA GTCACTGAAAGCAACTGCTGGTCATTACTGCCCATGAGTCAGTGGGTCAG CTGGGTGGTTCTATTGGTCTTTTGAGGGGATGGCTTACATGTCCTGGCTG AGCTGGCTGTCAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0189 a0003c0002t0002g0189	1	390	0.0026	-1965	c.42 others(10): Show c.421_*2385del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding		232		chr22	TogoVar
GAL3ST2_chr2_241771822_241809287	241805560	TCCCCCCT others(1958): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAG GGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0247 a0003c0003t0001g0247	1	314	0.0032	-1965	c.13 others(11): Show c.1395_*3359del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1274		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805560	TCCCCCCT others(1958): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAG GGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	319	0.0031	-1965	c.-37 others(11): Show c.-3717_-1753del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3632		chr2	TogoVar
NRXN3_chr14_78165373_79873291	78880988	TATGCTGT others(1958): Show TATGCTGTTCTCATGATAGTGAGTGAGTTCTCACAAGATTTGATGGTTTC ATAAGGGGATTTTCCCCCTTTTGCTTGGCATTTCTCCTTCCTGCTGTCAT GTGAAGAAGGATGTGTTTGCTTCCCCTTCCACCATGATTGTAAGTTTCCT GAGGCCTCCCCAGTCATGTGAAACTGTAAGTCAGTTAAACCTCTTGCTTT ATAAATTACCCAGTCCTGGGTATTTCTTCATGTCAGGCTGAGAATGGACT AATACAGTAAATTGGCACCAGGTAGTGGGATACTGCTGTAAAGATGCCTG AAAATGTAGAAGCACCTTTGGAACTGGGTAACATACAGAGGATGGAACAG TTTGGAGGGCTCAGAAGAAGAGAGGAAGATGGGGAAAGTTTGGAACTTCC TGGATACTTGTTGAATGGCTTTGACCAAAATGCTGATACTGACATGGACA ATGAAGTCCAAACTGAGGTGGTCTCAGATGGAGATGAGGAACTTGTTGGG AACTGGAGTAAAGGTGACTCTTGCTATGCTCTAAAAAAGAGACTGGTGGC ATTTTGCCCCTGCTCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATG ATTTAGGGTATCTAGTAGAAGAAATTTCTAAGCAGCAAAGTGTTCAAGAC GTGACTTGGGTGCTGTAAAAAGCATTCAATTTTATATATTCACAAAGATA GAATTTGGAATTGGAAATTGTTTAAATGAGAAGCAGAGCATAAAAGTTTG GAAAATTTGTAGCTTGCTGATGTGCCAGAAAAGAAAAACCCATTTTCTGA AGAGAAATTCAAGCCAGCTGCAGAAATTTGCATAAGTAATGAACCAAATG TTAATCACCATGATAATGGGGAAAATGTCTCCAGGGCATGTCAGAGACCA CAACAGTCCCTCCCATCACAAACCTGGAGGCCTAGGAGGGAAAAATGGTT TCCTGGGCCAGGTCCAGGGCTCCCCTGCTGTGTGCAACTTGAGTCCCAGC TGCTCCAGCCATGGCTAAAATGTGCCAAGGTACAGCTCAGGATATTGTTT CAAAAGGTGTAAGCCCCCATTCTTGGCAGCTTCCACATAGTGTTGGGCCT GTGATTGTATAGAAGACAAGAATTGAGTTTGGTGAACTTCTGCCTAGATT TCAGAGGATGTATGGAAACACCTGGATGTCCAGGCAGAAGTCTGCTGCAG GGGCAGAGCCCTCATGGAGAAGCTCTACTAGGGCAGTGCAGAAGGGAAAT GTGGGGTTGGAGCCCCCACACGGAGTCCCTACTGGGGTACTGACTAGTAG AACTGTGAGAAGAGGGCCACTGTCCTCCAGAACCCAGAATGGTAGATCCA CTGACAGCTTGCATTATGTGGCTGGAAAAGCTGCAGACACTCAACAGCAG CCATGAAAGCAGCCAGGAGGGGCACTGTACCCTACAAAGCCACAGGGGCA GTGCTGTCCAAGCCATGGGAGCCCACCTCTTGCATCAGCATGCCCTGGAT GTGAGACATGTAGTCTAAGGAGATAGTTTTGGAACTTTAAGGTTTAATGA CTGCCCTATTGGATTACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCC AATTTCTCCCATTTGGAATGGGTATATTTACCCAATGCCTATACCCCCAT TTTATCTAGGAAGTAACTAACTTCTTTTATTTTACAGTCTCATAGGTGGA AAGGACTTGCCTTGTCTCGGATGAGACTTTGGACTTGGACTTTTGAGTTA ATGCTGGAATAAGTTAAGAATTTGGGGGACTGTTGAAAGGGCGTGATCAT GTTTTGAATTGTGAGGGCATGAGATTTGTGAGGGGCCAGGGGCAGAATAA TATGGTTTGGCTATGTTTGCACCTAAATCTCATCTTGAATTTTAGTTCCC ATAATCCCCATGTGTTATGGGAGGGACCCAGTGGGAGGTACTTGAATCAT GGGAGTGGTTACCCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	24	0.0417	-1965	c.227 others(21): Show c.2275+70682_2275+72646del	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTMR3_chr22_29878174_30035868	29939622	CTTTCTAT others(1957): Show CTTTCTATATGTATGAAGGTATTACTTGACTGTTTTATAAAATAAGAACC GTAATTGGCGTAGACTTTCAGATGAGATTGGGAACATTCAGGGTGGTATG GCCGTAGGCAGTATGGACTTTCAGATAGCAGCTATAACTGTTAGTAATAA GAGTAGGACTGTCAGGCCACTCTGCCCAGGCTAAGCCATCATATCTCCTG TGACCTGCCCGTATACATCCAGATGGCCTGAAGCAACTGAAGAACCATGA AAGATGACATTCAACCATTGTAATCTGTTCCTGCCCCACCCTAACTGATC AATTGACCTTATGACAATACACCCTCCCCGCCCTTGCGATCATGTACTTT GTGATATTTCCCTGCCCTTAAGAAGGTACTTTGCGCCTGTAATCCCAGCA CTTCGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACAGTGAAACCCCGTCTCTGCTAAAAATACAAAAAAATTA GCCGGGCGTGGTGGCGGGCGACTGTAGTCCCAGCTACTCCGGAGGCTGAG GAAGGAGAATGGCGTGAACCCGGGAGGCGGAACTTGCAGTGAGCCGAGAT TGTGCCACTGCACGCCAGCCTGGGGGACAGAGCGAGACTCCGTTTCAAAA GAAAAAAAAATACTTTGTAATATTCTCCCTGCGCTTGAGAATGTACTTTG TGAGATCCACCCCCTGCCCACAAAAATTTGTTCCTAATTCCACTGCCTAT CCCAAACCTGTAAGAACTAATGATAATCCTACCACCCTTTGCTGAATCTT TTCTTGGACTCAGCCCGCCTGCACCCAGGTGAAACAAACAGCCTTGTTGC TCACACAAAGCCTGTTTGGTGGACTCTCTTCACACGGATGCGTGTGACAA TGACTGTACTTTTAACAGATGAGAAGTTTGATGGGAGTTGAAACTAGAAC TTTTTTTTTTCCTCCTGAATAGGAAAAATCGGAACATTCTTTAAGGTCCA GCTTTTCTCACCCTGCCCCACCTTTTTAAAAAAATTGTTGCTTATTGCCA ATAGACTAGCAAGTGGTTGAACAGTTTCCTTGGCAAGAGGTGCCAGGTGA CTGACTAATGCCATCGTAAAGCACATGCCCTTGATCACATCATATGGACT TGATCTCCTTGGAGGCTAATTATATTTAGGGACATTTTAGTACTTTCAAG GAACCTCAGACTTTGCTGAGGTTGAAAACACTGGTGACCTCCCTTTGGTT ATAAGAGAGACCAGGAGTTCATATGCATTCCTTCAGAAAAATATTTGAAA AATATAACACTGACCTTGGGAGATTAGTGCATATGATCTTGATTTTATGA TCTTTTCTAGAGACACTGCACCACTGCAGCCACTGCCTCAATCATGATAC AGAACTTTTACATCACATGAGAAAGTTCCTTTATGCACCGCTTCTAGTTA GTCTTTCTCTGCCCTAATCCAAACTACTATTCTCTTTCCTATCACTAAAA ATTAGTTTCGTCCTTGAACTTCATGTAAATGGAATCATACAATATTCTTT TCTAACTTGTTGCTTTGAGTCAACATCATGCTTTTGAGACTTATCCAGGT TGTATCAGTAAGTAGTTTGTTCATTTTTATTGCTGAGTATGGCAATCCAT TATAGAAATATACCACAATTTGTTTATCTGATCACTTACTGGATATTTGG GGTTGTTTCCAGTTTGGGGCTGTTATGAGTAAGGTTGCTGTGAACATTTG TGTCCAGACCTTTTTGTGATAATGTGCTTTCATTTCTCTTGGGTAATACC CAGGAGTAGAATTGTTGGATCATAGGATAAATGTATGCTTAACCTCATAA GCAGTTGCCAAACTGTCCTCCAAAGTGGTAATGCCATTTTACACTTTACG AGCCGTGTATGAATTCCAGTTACTCGATGTCCTCACCAACATTTGCTCTT GCCAGTTTCTTTAAT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0227 a0001c0002t0043g0227	1	334	0.0030	-1964	c.-13 others(21): Show c.-137-17410_-137-15447del	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZNF814_chr19_57864381_57894037	57883241	CCAGCTAC others(1957): Show CCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCATGAACCCCAGGGGGG CAGAGCCTACAGTGAGCTGAGATCACGCCACTGCACTCTAGCCTGGGCGA CAGCGAGACTCCATCTCAAAAAAAAAAAAAAAATAGAACTGGCCAGGCAT GATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGATGGA TCATGAGGTCAAGAGATCGAGACTATTCTGGCCAATATAGTGGAACCCCG TTTCTACTAAAAATACAAAAATTAGCCGGATGTGGTAGTGCACACCTGTA GTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GCGGAGGCTGCACTGAGCTGAGATCGCACCACTGCACTGCAGCCTGGGTG ACAGAGAGAGACCCTGTCTCAAAAAAAAAAAAAAAATCAAAATGGATTAA AAAAGACTTAAATCTAAAACCTAAAACTATGAAACTACTACCAAAAAAGA CTGAAGTGGGCAAAGATTTCTTTATTTTTTTTTTTGAGATGAAGTCTCAC TCTGTTGCCCAGGCTGGAGCGCAATGGCACAATCTCGGCTCACTGCAACC TCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCGAGTAGCTG TGATTACAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTA GAGATGGGGTTTCCCCATGTTGCCCAGGCTGGTCTCAAACTCCTGACCTC AGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGA GTCACCGAGCCTGGCCGACAAAGACTTCTTGAGTAATACCTTTCAAGCAC AGGCAACCAAAGCAAAATTGGACTAATGGCATCAGATCAAGTTAAAAAGC TTCTGTACAGCAAAGAAAACAATCAACAAAGTGAAGAGATAACCCACAGA ATGGGAGAAAATATCTGCAAACTACCCATCTGCAAAGGGATTAATTACCA GAATATATAGAGTTCAAACAACTCTATAGGAAAAACCCTTAATAATCCCA TTTAAAAATCTCAATAGACATTTCTCAAAAGAAGACATACAGTCAGGAGC AGTGCCTCCCAGCTATAATCATAGCAGTTTGGGAGACTGAGGCAGAAAGA CCACTTGAGCCTAGGAGTTTATAACCACCCTGTTTAACCAGTGAGACCCC CATCTCTACAAAAAAGTTTAAAAGCTAGCCAAGGCAAGGTGGCACATGCC TGTGGTGGTCCCTGCCACTTGGGAGACTGAGGTAGCAGGATAGCCTGAGC CCAGGTGGTCGAAGCTGCAGTGAGCCATCATCACACTACAGCATTCCAGC CTGGGTGACAGAGCAAGATCCTGTCTCAAAAATACAAACAAAAGACAATG ACATACAAATGGCAAACAGGTATAGGAAAAGGTGCTCAACATCACTGGTC ATAAGAGAATGCACATCATCTCACCCCATTAAAATGGCTTATTTATATCC AAAAGACAGGCAATAACAAATGCTGGTGAGGATGTGAAGAAAAAGGACCT CTCGTACACTGTTGGTGGGAATGGAAATTAGTACAACCACTATGGAGAAC AGTTTGGGGGTTCCTTAAAAAACTAAACATTAAGCTAGCATATAATCCAG CAATCCCACTGCTGGGTATAAACCAAAAGGAATCCAGTATATCACAGAGA TATCTGCACTCCCATGTTTGCTGCAGCACTGTTCACAGCAGCTAAGACTT GGAAGTGACCTAAGTGGTCATCAACAGATAAATGGATAAAGAAAATGTAG GCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAG GCCGGTGGATCAGGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGT GAAATCCCAATCTCTACTAAAAATACAAAAAATTACCCAGGTGTGGTGGC ACACGTGTTTAGTCT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19072.hp1 NA18984.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	2	434	0.0046	-1964	c.36+ others(15): Show c.36+3562_36+5525del	ZNF814	ENSG00000204514.11	transcript	ENST00000435989.7	protein_coding	1/2			chr19	TogoVar
PKN2_chr1_88679273_88841255	88792180	GGATCACC others(1956): Show GGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAATATGGAGAAA CCCCGTCTCTACTAAAAATACAAAATTAGCTGGACATAGTGGCGCATGCC TGTAACCCAGCTACTCGGGAGGCTGAGGCAATAGAATCGCTTGAACCTGG GAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGGACTCCAGCCTAG GCAACAGAGTGAGACTCCGTCTCAAAAAATAAATAAATAAATAAATAAAT AACATGTCATGTATTCCTCTGGGGCTATATGACTTCTTTGAGACTATGAG CTGTATAGTTGACCCTTGAGCAACGCAGGGGCTAGGGAGCACAAGCCTAC ATTTCCAACCCATGTACTCGAAAATCCACATAACACTTTTGACTCCCCCA GAACTTAAATACTAATAGTCTACTGTGGACCAGAAGCCTTATTGATAACA TAGACAGTCTATTTTGCAAAAAATACAAGGTTTTTGTGCCTGCCGTCTTA GCTGCAGCAGCAGCTTCAGAAATTTCCTTTTCTTCTTTTACAGTGGTTCT TATTCTGGATTCATTTATATTGAAATGGCAGAAGCTACAACTGCAAACCT CAATATATAGGATACATATCAAGCAGTTCAACTTGTTCTTGTAATGTCAT GATTTTTCTCCCCTTCTTGGGAGCGCTTCCAGCATCACTAGTGGTACTTT GTAAGGGTTCCATAATATTATTCAAGGTTTATGGTATTGCATTAAATACC ATGAAAAATATGCAAGAACTGAGGCAGATCACTTTTACTGCCATATGCAA TTTACTAGAGAGATGAACTGCTCAGGCAGAAATAATTAGATTTACATAGT GTTTTAAATGGATACTGTTGACACTTGAGCTCACCATAAGAGCATTAGGA GGTGGCTACAAAATTATAGTAGTACAGTACTACAGTTAATTTTATGCAGT TATGATTTAATATTGCATCTTGATGTTTGTTTATATTTCTCTTGACTATA AATGGTGCCATGTATGGTCTGTAAGTGTTTGTGTGTAAGTTTGATAAATT CTAACCTTTTCTAATAGATTTGTGTATTTTATGGTAGTGAATGATAAAAT AGACTAGTATCTACATATATGCATTCATGACATATCTTTGTTGTAATGTT TTTGATATTTCTATGCTATGTGATTCATCTGCAGATTTTTCAAACTGTTG CACATTTCCAAAAAAGATTCCAGTATATTTATTGAAAAAAAATCCACGTA TAAGTCGACCTGTACATTTCAAACTTGTATTGTTCATAGGTCAGCAGTAT AGAATTGCCTACTTTTTTTTCTTTTTTGTTTCTGTTATTTCTTGAACATC AGGTACTCTCTGATATTCATTAAGGATGACTTTTATTCTTCCTTCCAACA TTTGCCATCATTATGAGGGATTTAAAATATCTGCATACAGTTGTCCCTTG GTATCCATGGGGAACGATTTCAGGACTCCCTCTCCCTGTACCAAAATCCA TGGATGCTCAAGTCCTTTATATAAAATGGTGTATTTGCATATAACCCACA CACATCCTCCTGTATACTTTAAATCATCTCTACAGTAATTATAATACCCA GTGCAATGTAAATGCTATATAAATTATTATACTGTATTGTTTAGGGAATA TTGACAAGAAAAAAAAGTCTACATATTCAGTACAAATACAACTATCCTTT TATTCCCCAAATATTTTCAGTCGTGGTTGGTTTAATCCACAGATAAGGAA CCCACAGATACAGAGGGTGGACTGTATATGTAAACAACCCATATAATATA CCACTATTTAAACTTCTTTGAACTCCTGAACTCTGGTATACCTTTACTCC TTTGTCATTTTAAATGAACTGTGCTACACAAATTGAAATCTTAAATTCGA TATACCTGTTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCTGAGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	330	0.0030	-1963	c.128 others(19): Show c.1281+5981_1281+7943del	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4F11_chr19_15907377_15939529	15931925	GAGAGGAA others(1953): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATG AGTGAGCGAGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0037 a0003c0024t0037	a0003c0024t0037g0199 a0003c0024t0037g0199	1	386	0.0026	-1960	c.198 others(16): Show c.198+326_198+2285del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
PCDH11X_chrX_91774375_92628230	92423134	GCCACCGC others(1953): Show GCCACCGCGCCCAGCCTGATTTTTTTATTATGGCAATTCTTGCAGGAGTA AGGTGGTATTGCACTGTAGTTTTGATTTGCATTTCCTTGATAATTAGTGA TGTTGAGGCTTTTTTCATGTTTGTCGGCCATTTGTTTATCTTCTTTTGAG AATTGTCCATTCATGTACTTAGCCCACTTTTTGATAGGATTGTTTTTGTT TTGTTTTGTTTTTTTCTGTTAATTCGTTTGAGTTCCTTGTAGATTCTGGA CATTAGTCTTTTGTCAGGTGTATAGATTGCAAAGATTTTCTTCCACTCTG AGGGTTGTCTGTTTACTCTGCTGATTGTTTCCTTTGCTGTGCAGAAGCTC TTCAGTTTAATTAAATCTCACCTATTTATCTTTGTTTTTGTTGCATTTGC TTTTGGGTTCTAGGTCATGAAGTGTTTGCCTAAGCCAATGTCTAGAAGGG TTTTTCCAATGTTATCTTGCAGAATTTTTATAGTTTCAGGTCTTAGATTT AAGTCCTTGTTGCATCTTAAGTTGATTTTTATAAAAAGTGAGAGATGAGG ATCCAGTTTCATTCTTCTACATGTGGCTTGCCAATTATCCCAGTACCATT TGTTGAATAGGGTATACTTTCGCCACTTTATGTTTTTGTTTGCTTTGTCA AAGATCAGTTGGCTGTAAGTATTTGGGTTTATTTCTGGGTTCTCTATTCT GTTCCATTTGTCTATGTGCCTATTTTTATACCTGTACCATGCTGTTTTGG TGATTATGGCCTTATAGTATAAAGTCAGGTAATATGATGCCTCCAGATTT GTACTTTTTGCTTAGACTTGCTTTGGCTATGCGGGCTCTTTTTTGGTTTC ATGTATGAACTGGGGGATTGTTTTTTCTAGTTCTGTGAAGAATGAGGGTG GAATCTGATGGGAATTGTATTGAATTTGTAGATTGCTTTTGGCAGCATGG TACCTTTCACAATATTGATTCTATCCATTCATAAGTGTGGAATTTGTTTG TGTTGTCTGTGATTTCTCTCAGCAGGAACACAGAATTTCTATTGGCAAAT GTTTTTTTTTTTTTTTCCCTTGAGAATCTCTCATATTTTCCTGAGTGTTT TTATGTTAAATGTTATATAGTATAGCCTCTGGGTTCTATTTTAATCATCT GGATAATGCTGATTTTTTTCTTTATTTGTTTAACCGGCAGTTGTTCTAGT ATCTGTTAAATTTTTAAAGGCTTTCCTATGATGTCTAGATTAATCCAGTA CATGCATGATTCAGGGGATAATCTGAAGTTCAGGTTTTAGGTTATATCAT AGTTCAGGTTTCAAAACCCCTTACTATCCTGCTTTGGGTCTCTCTCTGGC TCGTGCAGTTCGTAGGGGAACCTGGGATTTGTGTGGGTTCACATAGAATT ATGGAGTCCCTTTAGTTAACATTTCTGTTTCTAGGACTGCTGCTACATTC TCTGACTCTTTTCTGGTTCCTCTATGCATTTTCAACTGAAGTTCTAGCTG TCAGCTCTATACCTCTGTCGAGCTTTGCAAAGGGAGCTTACATTATGGAC AAATCTGTGAGACAAAGGGAAAAATGTATGAGGAAACTCATCCCTGAGTG TGTTGCTTCTCTATGTTTTGACTCTTTTTCTAAACCTGCCTTCCTTTTGT TTACCTTTCAGAGTCCTCGGGTAGTTGCCTTTTGTATATTTTCCAGAGAT TTTAGTTATAACAAGTGGTATATATGGGCTATACTGGGCTTACTACATTT TGGACAGAACTGCAACCCTCCAAACATGAGGGGCACCTCAGCTGGTGCTT ATGTTTATGAGCACAGAGGAGGTTTCTCTGGGCTTGAGACCCAAACCTTT GAGAAGCAGATGCTGGCTAACTGGTAGTGGTATCTGTGAGGGAAGTGTAA TCTGGCTGGTTCTAGAAGTGTTGGAGAAACTGCAAACTGATTTCAGCAGT GGCTCCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01358.hp1 others(12): Show HG00621.hp1 HG01069.hp1 HG01358.hp1 HG02040.hp1 HG02074.hp1 HG03239.hp2 HG04115.hp1 NA18944.hp1 NA18960.hp1 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0028	a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0098 others(12): Show a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0002g0002 a0001c0001t0002g0062 a0001c0001t0002g0110 a0001c0001t0003g0079 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0004g0146 a0001c0001t0017g0033 a0001c0001t0028g0061	15	154	0.0974	-1960	c.334 others(21): Show c.3343+35203_3343+37162del	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ADAMTSL3_chr15_83649123_84044842	83936231	CATTTGTT others(1952): Show CATTTGTTAAGATGGAAATGATTTTGGTTAAGTCTAGAGTTGTTAAATAG GGCCTTTAAAATTCTAAGGGTAAACCTAAAAATAAAATATAACAGAGGGG AAAACAGAATAAAAACTATAACAAGCAAAATAAATGCTCACAAAAACACA GGAAATAATTAGAATGAGAAGAATGGAAAAGTCAGGAAAAACAGAATTCT TAACAATAGTAACAGATGAAAGTAGTTCAAGATAGCTGAGAAATCCTTTC ATCTTGATCAATAAAAGGATAGACATACTGAACAACTGTAGACTTTTGTT ATAAACATTTATAGTTATGCTATAAAAACCCTGGAAGATAACCTAGGAAA TAACATTCTATACATAGGACCTGGCAAAGATTTCATGACAAAGATGCCAA AAGCAATTGTGACAAAAACAAAAATTGACAAATGAGACGTAATTAAACTA AAGAGCTTCTGCACAGCAAAAGAAACTATCAACAGAGTAAATAGCCAACC TACAGAATCAGAGAAAATATTAGCAAACTATGCATCCAGTGAAAGCTCAA TATCTAGAATCTGTAAGAAACTTAAACAAATTCAGCAAAAAACCAAAAAT CCCTTTAAAAAGTGGGCAAATGATGTGAACAGACACTTTCCAAAAGAAGA CCTCCATGTGGCCAACAAGCATATGAAAACATGCTCAACATCACTAATCA CTAGAGAAATGCAAATCAAAACCATAGCGAGATACCATCTCTCACCAGTC AGATGGCTATTATTAAAAAGTCAAAAAATTACAGATGCTGGTGAGGTTGC AGAGAAAAGAGAACATTTATACGCTGCTGGTGGGAATGTAAATTAATTCA GCTATTGTGGAAAGCAGTGTGGCAATTTCTCAAAGAACTTAAAAAAATTA CCGTTTGACCCAGCAATTTCATTATTGGGTATATATCCCAAGAATTATAA ATCATTCTACCATAAAGACACATGCACACGTATGTTCACCGCAGCACTAT TCACAATAGCAAAGACATGAAATCAATGTAAATACGCATCAACAGTAGAC TGGATTTAAAAAAATGTACATATACACCATGGAATATTATGCAGCCATAG AAAAAGAATGAGATCGTGTCCTTTGCAGCAACATGAATGGAACTAGAGAT CATTACCTTAAGTGAACTAATGCAGGAACAGAAAACCAAATACCACGTGT CCTCATTTATAAGTAGAAGCTAAATATTGAGAATACATCAACACAAAGAA GGGAACAACAGACATCAGGGTCTACTTGAGGGTGGAAGGTTGGAGAAGGG AGAGGATTGAAAAAGTACCTACCAGGTACTATGCTTATTTATATGGGTGA TGAAATAATCTGTACACCAAATGCCCATGACATGCAATTTACCTATATAA CAAATCTGCACATGTACCTAAAATAAAATGTTTAAAAATTATCATTACGT ATGTTAAAAGTCAAGGATCAGTGCTAAATGAACAGAAATACTAATTTATG TATTGATTTTGTCTTTTTGCATGTTAATTGAATGTAAAATTTCTAGAATT CAAAAATAATCTAAAACTTGTATCACCTTATATTAATCAGGGTTCCTAGG TATAAGCAGTATAAACTAATTGTGCTTAACTTGAGCTAATAATAAACTTA CTAGAAAGATGCTAAGTGGTCCACAAAAATAATAGGCTGGATAACTAAGT TTATAAATTTTTCAGGAGCTAAGGGAGATTAAATTGAAAGAAAACACAAA GTCATACCAAAGTCATGTCTGGTTAGGTATTTCTGGACACTTGTGGCCAT TACTGTCACATTGTAAAGATATTTAATCTAAAAAAGTTTATTGACTATGG AAATCAATAATAGTTTCTGATTTATCAATTTGAAAAAAGAAATATTGTCC AACAAAACCTTGTAAAACTCAGAGAGATTGATTAATTAAAGTGCTTTAGG CCCTTATACT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02809.hp2 others(4): Show HG02451.hp1 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03139.hp2 NA20300.hp1	a0001 a0002 a0017 others(3): Show a0001 a0002 a0017 a0026 a0027 a0037	a0001c0001 a0002c0039 a0002c0060 others(4): Show a0001c0001 a0002c0039 a0002c0060 a0017c0059 a0026c0032 a0027c0033 a0037c0055	a0001c0001t0001 a0002c0039t0001 a0002c0060t0001 others(4): Show a0001c0001t0001 a0002c0039t0001 a0002c0060t0001 a0017c0059t0001 a0026c0032t0001 a0027c0033t0001 a0037c0055t0001	a0001c0001t0001g0053 a0002c0039t0001g0058 a0002c0060t0001g0245 others(4): Show a0001c0001t0001g0053 a0002c0039t0001g0058 a0002c0060t0001g0245 a0017c0059t0001g0095 a0026c0032t0001g0091 a0027c0033t0001g0240 a0037c0055t0001g0183	7	274	0.0256	-1959	c.211 others(19): Show c.2118-6314_2118-4356del	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CLTCL1_chr22_19174473_19296719	19248068	AGGCAGAT others(1950): Show AGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGACTGACCAACATGGA GAAACCCCATCACTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGCA TGCCTGTAGTCCCAGTTATTCAGGAAGGCTGAGGCAGTAGAATCGCTTGA ACCCGGGAGGCGGAGGTTGCGGTGAGCCAAGACCATGCCACTGCACTCCA GCCTGGGCAACAAGAGCAAAACTCGGTCTCAAAAAAAAAAAATTATGAAT TTTTTTGCAATTTTTGTTTTTAGCTCATCAGCTATTGCTAGTGTATTTTA TGTGTGACCCAAGACAATTCTTCTTCCAGTGTGGCCCAGGGGATCCAAAA GATCAGACACCCCTGGTTTAAAGCATACCATCCAATGTTTCTTCGTATAC TCAGAGGGCTGTGCAATCATCACTACAACATAGTTTTAGAACACTTTCAT CCTTTGAAAGAAACCCTATTAGCATTCAATCCTCATTCCTATCTCCCAGA CTCCACCTCCAGTCATAGGCAACTACTTATCTATTTTCTGTGTCTATAGG TCAGACTATCCTGAACATTTCAAATAAATGGAATCATATAGTATGTGGTC TTTTGTGACTGGCATCTTTCACTTAGCTTAATATTTCCAAGGTTCATTCA TGATGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTC TTGAAATCCTGACCACAGGGTGATCTGCCTGCCTCAGCCTCCCTCCCAAA GTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCCTTCTAAGAGTTT TATAGGTTCAGTTCTTACATTTAGGTCTGATCGATTTTGAGTTTTTTAGT ATTATGAGACAGAGGTCCCATTTAATGCTTCTGCATATAAATGTCCAGCG CCCCAAGACCTTGTATTGAACAACTCCTCTTTTTTTCACTGAACTGTCTT GGCAACCTTGTCAAAAATCAATTGACCACAAGGGATACAACACTTTGATT AGACTGGAGGAATAAGTTCAAATGATCATGCCTATAATCCCAGCACTCTG GGAGGCCGAAGCGGGCGGATTACTTGAGGTCAGGAGTTTGAGACCATCCT GGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGT GCGTGGTGGCACGTGCCTATAATCCCAGCTACTCGGGAAGCTGAGGCAGG AGGATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGC CACTGCACTCCAGCCTCAGCGACAGAGCAAGACCCTGTCTCAAAAAATAA AAAAAATTAAAATTAAGAAATTAAAATTAATGAATTTTTAAAATATATAT TTGCACTCTACTGATATTATTTTGATTCAGAGAAATATGTTCATAACTTA TTAGAAATAACCTTGAGTAGTTTGAGACCAGCCTGGCCAACACGGTGAAA CCCTGTCTCTACTAAAAACACAAAAAAAATTAGCCAGGCATGGTGGTGCA CATCTATAATCCCAGCTACCTGGAAGGCTGAGATAGGAGAATCACTTGAA CCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAG CCTGGACAACAGAGCAAGGCTCTGTCTCAAAAGAAAAGAAAAAAAAAGAA ATAACCTTGAGTAAATTTAAATTTATTTCTAAGTTGATGGTATGGCTAGG TTTTGATAATTTTTATTTGGTTTCCCTTCCCTTTAATCAGAAAATTAACT TTCATACCCTGTTCACAAACCATCAAAGCTGATTTTGAAACTTAAAAAAA AAATCGCCAGGTACCATGCAAAAGCAATCTTCCCTTTAGAATGACTGATG GTATGCTAAGGTTTTTCGTGGCATATTATTATTAAAGGTGAATACAAATA AATGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGG CCGAGGTG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0075 a0006c0008t0003g0075	1	346	0.0029	-1957	c.519 others(17): Show c.519+3934_520-5133del	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	3/32			chr22	TogoVar
TYR_chr11_89172875_89300759	89173814	CGCATTTT others(1948): Show CGCATTTTTTTTTAAAAAAGGAAACTTATAACTTAATAGAAATTGATAAA ATAGATCAACCAAAATGCAGTGTATATACCTGTTTGAATCTTGACAAAAA TACTTTTGAGATAATTAAAGTAAATTAACCATAAATTTGATACCTGATAT TAAAGAATTATTGTTCTTTTTGTTTGAGATGTGTTTGTGTAAGATACGTG GTTTTGTTTTTATGTTCTTAATTGTTAGCAATATATACCGAAATTAGAGG TAGAATATGCTATCTGAGTTTTGTTTTAAAACATTCCAGAATTTTTAAAC TAGTAGAAACAAAACAGAAAAATGCTGGATGTTGAAACTTGGAGGTAAGT AAATGCTAGTTTATTATATTATTTTTTACTGATTTGAGCATATTTCTTTC CACAGTAAATTTTTTTCTTTAAATGGTAGCTACTGATACTGAGATAATTA TATTAGTTGTATTTAATAAATGGTAGCTACCATTATAATTGAAAGGAGGG CTGAGAAACAAAGACAGAAAATGGATTCAAACTACTACCAAATAAAAGAG CAAATACCAGTGATCTGAGTGAGGAAAATGAGGAAAATTGACCAGGTTAA CACAAGTGAGTGGCTGAATAATCTATACAAATACCAGAAGTAGAGGACCA GTGATTGTGGCTAGTTGATACTCAAACTCAACTTATCTAAAATTGAGCCT ATATTCAATTCCCATAAACATTTATCCTCTATTGTTTCTTATTTTAGTTA ATGGCACAAGCCAAAAACCTAGCACATAGCCCTAAATCTTCTTTCCCTTC ACTTCTTACTGCTCTTGAATTTATCACCTATGTATCTCTCAAATTCATTA ACTTATGCCCATCTCAGAGATCATTACTCTAGTCTAAGCAATGTCATGTT TGCCTGGTTTACATCAATAATATCCTAACAGTAATCTCCACATTTAATCT AGCTCCCACCCCACATCTGTTCTCACCTCAGTAGCTTGAGTGAAAAGTTT TAAATTCATGTATCGTTACCCAAAATTTTGCTACAAAGCCTTTATGGACT ATGAGCTGGTCCATACACACACCTTCATTCTTATATCACGCCTCTACCAT ATTGGGGGTTGCAGCCACCTTAACTGTCCTTAAATCCCTTGAATATACCA ACCTACTTCCACTTTGGAGACTTTGCACATGCTATTCTCTCTGCCTGGAA AGCTCACACTCCTACTGTTCTCTCTGTCATCAAACAGACTTCTAGTGATC CCTCAAGTGTCACTTGAAATGTCACTTCTCCCATAAAATTATCCCTGACT ATCCCTTCTCTTGTGAGACTAGAAAGGCCCTTCTGTCATGTTCCCTAATT TCTCTCTTTAATTTTCTCTTATAGCAACCTAAAAAGTAATTTAATCCAGA AAAAAAGTTATTTAAAGTAATGTAGTTAAAATTATTATTTAAAATCACTA AAATTAAAATAGTATTTTAAGAGGCAATATCCTTCCTGATGATAGAGATT TTTGTTGTGCTTACCATCACATTCCCATCTCTCCCCATGTCTGCAAGTAA ATACTTGCAGAGTATTTACTGAACCCCTAATTCTACTTTATAGAGCATTG CAGTAATTTCATGTCAGGTCATACAATAATCTCCCAAAATAGGATAGGAC CCTTTCAAATCCCACAACTGAAGATACCTAAAGAATGTACATCTAGAGTC AGGAAGAAAGCACTCTAAATGGGATTTAATATTTAGGAACCCAAGACTGG CAATAAGACTGAAGACTACAACACGTGTAGGCCAGAGGAGACAGTGGCCT ATACTGGGGACAAATAAAGAGGTCTGTCCTATTTAAGAAAATCAACCCTG TAAAGGAAATTAATAGGACTAAGTACATTTTAGTAATTCCTCTAAGCAGG CTCTAAAGATTATGAAAAATAGACGGGACAGCAGACACAAAAGCCCTTAA AGAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	306	0.0033	-1955	c.-41 others(11): Show c.-4139_-2185del	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding		4060		chr11	TogoVar
ZNF322_chr6_26629383_26664746	26656483	CAAAACCC others(1948): Show CAAAACCCACTTGCAATAACTAATAAAACAATTTGGCCAGTTAATGATTA ATATGAAGATTATGCAAAAACTAGAAAAAAATTATGGAGAAATATTAGAA GGAAAAGGAAGAATTCCAACTCAGAATCACAACTAAGTAAAGATATGCCG GGATACAGACAAATAGCTGTTATAAGATGGGGGGTTCATAAAAGGTTTTG TCTTTTAAAATTTGTATTAGTGTTAAGCTCAAAAGGAGAATAGAGTGAAA ATAAAGGATTCTTAGTTTTGTCACAGCCAGGCAAATCATTTACATTATTC CCTAAAGTTATCAGTCCAAGATGTCTTATTTGCCCTAAACAACCAATGAA GTGTGGGGCATTAAGAAGAAGAAAAAAAAAACTGAATAAATAAGGAAATA ATTTTCCTATTCATATCCAAGCTTTTTTTAGATGTCAACACCTAAAAAAT AAGTCTGGGTGTCAAACCTCAAAACAGATCATAAGGCCGGGCGTGGTGGC TCATGCCTGTAATCCGAGCACTTCGGGAAGCCGAGGCTGGCGGATCACAA GGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTG CTAAAAAGTACAAAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGAAGGCTGAGGCAGAAGAATGGTGTGAACCTGGGAGGCA GAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGATGACA GAGCGAAGACTCCATCTCAAAAAAAAAAAAAAATCACGACACTTCCCTAA TTTAAAATACTGTTTTCTAGCACACTCAGAATAAAATCCAAAGTTTTTAC TGCTCTACATAATGTGGCACCTCTGCGTTATCTTCAGCCTCACAGGCCAT CTCCGAGCTTTTGCACTTGTTCCTTCTGCCTAGAATGCTCTTCCCCATGC AGCTTACTCCTTTATTGGACTCAAGTCTCTGCCTGAAGATCACTTCCTCA AAAAGCAGCATACCCTGACTACCTTATCTAAAATAGCCTGTGTTGCTTTA TCACATTTTATTTCTCTCCACAGCACTTATCACCATTCAACTTTATGGTA TACATTTTATATTTATTCGTTTGTCTTTTTACTAAAATATAACTTCTATT AGGGTTAGGACTTAGTCTTTTGCTTACTGTAATATCCCTACTACCTAGAG TACATTTGTTGAATAAATGAAAAGTGTGAACAAATACCAGAACAAAAAGG CAATCATTATCCTTGGACCCCCAGTAGCTGTATAACAGACTAGACCAGTA GCCCTGGCTGGTTCATCTAGCAAGCCCAAATACATCTTTCAAGTCTTAGC TCCAGGGTACCCTCCTTCAGGATGCTTCTCTTGCCCCATCCTAGGAAGAG ACTAGTACTCTTTCCTGCCTAGGGTCGAAGTGAAAGGAATAAACTGGAAC ACGACAAAAGTCCAAGCAGACAGGCTAATTCATACAACTTGAGAGTTCAT GGTTATCCTTAAAGGGTATATGGGACCAAGAGACAAAGTTAGTAAAGCAT TATTTAAAAATTAGATGGTGTTTATAGGCCTTAGACTTGGAAATTTCTCA TTTATTTTTCATTGATTACATGGATTATCTCATTTAGTCCTCCCAAGGAC CCTATGAAATAGGTATTAATACCAGTGTTTGGATCTTATAGATGGAAAAC CTGATGCTTAGGGCAGTTAGATAATCACCCAACAACTTACAAATAGTAAG CAGCAGAGCCAGGATTTCAATACCTATCTTCTGACTCCAGAGCCTGCCTA AGCATTAGGCATACTACCCTCTTTGTGCTACAAATCAATCAAAAAGCAAT TACTGCAAGCCTAATGTGAATATGCATGCATGTTGAAAAGGAGTAGAAAA TAGCCTTAAGTTGGTAGGATAGGGCTCAGTTTTATCACTCTGCTATCTTA GGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18954.hp2 NA18961.hp1 others(7): Show HG02074.hp2 NA18954.hp2 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18982.hp2 NA18985.hp2 NA19077.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0189 a0001c0001t0005g0190 others(4): Show a0001c0001t0005g0019 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194	10	370	0.0270	-1955	c.-24 others(18): Show c.-246+120_-246+2074del	ZNF322	ENSG00000181315.11	transcript	ENST00000415922.7	protein_coding	2/3			chr6	TogoVar
TPO_chr2_1408463_1548673	1535430	TCCCCAAA others(1947): Show TCCCCAAATCCCCCCCACTCTGTGCAACCTCCCCAAATCAGCCCCACTCC GTGCAACCTCCGCCTATCCCTCCCACTGGGTGCAACCTCCCCAAATCCCC GTGTGCCACTTCCCCAAATCACCACATTGTGAGCAACCTCCCCAAATCCC CCCACTGCGAAGACCTCCTCAAATTGCCCCGCAGTGTACAACCTCCTCAA ATCCTCCCTCGCTGTGTGCAACCTCCTCAAATCCCCCCACTCTGTGCAAC CTCCCCACATGCCCCCAGTGTGTGCAACCTCCCGAAATCCACCCAGTGTG TGCAACCTCCCCAAATCCCCCCACTCTGTGCAACCTCCCGAAATCCCCCC AACTCTGTGCAACCTCCGCCATCCCTCCCACTGTGTGCAACCTGCTCAAA TCCCCAAACTGTGTGCAACCTCCCCGAATCCCCCCAACTTTGTGCAACCT CAAGTCCCCGAATGTGTGCAACCCCCCCAAATCCCGTGTGCAACCTCCCC AAATCCCCCACACTATGTGCAACCTCCTCAAATCCCCCCACTCTGCACAA TCTCCCCAAATCCCCCCCACTCTGCGCAACCTCCTCAAATCCCCCCACTG TGTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCTTCCCAAATCCCC CCACTGTGTGCAACCTTCCCAAATCCCCCCATTATGTGCAACCTCCCCAA ATCCCCCAATCTATGCAACCTCCCCGTTCCCCCCAATGTGTTCAAGCCCC CCAAATCCCCCCACTGTGTGCAACCTCCCGAAATCGCCCCCACTGTGTGC AACCTCCCCAAATCCCCCCAACTGTTTGGAACCTCCTCAAATCCCCCCAC TGTGTGCAACCTCCCGAAATCCCCCCAACTTTGTGCAACCTCCCCAAATG CCCACTGTGTGCAACGTCCCGAAATCCCCCCCACTCTGTGCAACCTCCCC AAATCCCCGCCACTCTGTGAAACCTCCCCCATCCCTTCCAGTTTGTGCAC CCCCCCAAATCCCCCCACTATGTGACACCTCCTCAAATCCCCCCACTGTG AGCAACCTCCTGAAATCCCTCTCACTGCGTGCAACTTCCTCAAATTCCTC CCCCACTCTGAGTAGCCTCCTCAAATCCCCCCCAGTGTGTGCAACGTCCC CAAATCGCCCCACTGTGTGCATTCTCCTCAAATGCCCCTAGCTTTGTGAA ACCTCCCCAAATCCCCCCCCCCACTGTGTGCAACCTCCCCAGATCTCCTT TCTGTGCAACCTCCATAAATCCAACCAAATGTATGCAACCTCCTCAAATC CCCACCACTCTGTGCAACCTCCCCAAATCCCCATCACTCTGTGTAATCTC CCCAAATCCCCCGCAATCTGTGCAACCTCCCCAAATCCCCCCCACTGTGT GCAACCTCCCCAAATCCCGCCACTGTGTTCAACCTCCCCGAATACCCACC ACTCTGTGCAACCTCCCCAAATCCCAACTGTTTGCAACCTCCCAAATCCC CCCCAATGTGAGCAACCTCTCAAATCCCCCTGTGTGCAACCCCCCAATCT CCCCCACTGTGTGCAACCTCAAATCCCCCCACTGTGTGCAACGTCCTCAA ATACCCCCACTGTGTGCAACCTCCCCAAATCCCTGCCACTGTGTGCAACC TCACCAAATCCGTCCACTGTGTGCAACCTCCCTAGATCCCCCCTATGTGC AACCTCCGCAAATACCCCCACTCTGTGCAAGTGCCCCCTATTTCCCCAAC TGTGTAGCAACCTCCCCAAATCCCCCCACTGTGTGCCACCTCCCCAAATC CCCCAACTGTTTCGAACCACCTCAAATCCCCCCACTGTGTGCAACCTCCC CAAATCCCCCCCACCCTCTGCAACGTCCCCAAACCTACTCTGTCCAACCT CCCCAAATCCTCCACTCTGTTCGACCTCCGCCTATCGCCCTACTGTGTGC AACTC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01975.hp1 HG02004.hp1 others(1): Show HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0002g0039 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0002g0039 a0001c0001t0002g0078	4	130	0.0308	-1954	c.261 others(19): Show c.2619-5161_2619-3208del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD3L4_chr19_7032749_7045179	7043226	CAACTTAG others(1946): Show CAACTTAGCTAAAGGGAAAAACGCAGAAACACCAAGTGCTGACTAGATTA TGGAGGGACCAGTCTTTCCCGTAAGGATAGTGGGAGTTTAAATTGGAATA ACCGCTTTGGAAAACTATATGCAAACATCTATTAAAGCTGTATAGGGCCA GGCATGGTGGTTTATGCCTGTAATCCCAGCATTTTGGGAAGCAGAGGTGG GAGGATCGCTTGAGCTCAGTAGTCTAGAAGCAACTTGGACAACATAGGAA GACCTTATCTCTACAAAAAATAAAAAATAAGCATTGTCAGGCATGGTGAT GCCTGCCTGTAGTCCCATCTACTTAGGAGGCTGAAGTGGGAGGATCACTT GAGCCCAGGAGATCAAGGCTGTAGTGAGTTGTGATTGAGCTACTGCACTC CAGCCTGGGTGACAGAGCAAGACCCTGTCTCAAAAACAAAAGCTGTAGGC TGGGCACAGTGGCTTACGCCTGTAATCCCAGCACTTTAGGAGGCTGAAGC GCGCGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCGACATGGT GAAACCTCCTCTCTATTGAAAATACAAAAAAATTAGCCAGGCATGGTGGC GTACGCCTGTAGTCTCAGCTACTCGGGAGGCTGATGCAGGAGAATTGCTT GAACCCAGAGGTGGAGGTTGCGGTGAGACAAGATTGCGCCACTGCACTCC AGCCTGGGTGAGAGAGAGACTGTCTCAAAAGAACAAACAGGCGGTGGCTC AAGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGA GATCAGGAATTCAAGACCAGCCAGGCAAACATGGTGAAACACCATCTCCA CAAAAATACAAAAATTAGCTAGGCCTGATGGTGGGTGCCTGTAATCCCGG CTAGTTGGGAGGCTGAGGTGGGAGAATTGCTTGAACCTGGGAGGCGAGGG TTGCAGTGAGCCGAGATCGTGCCACTACACTCCAGCCTGGGCAACAGATC GAGACTCCGTCTCAAACAAACCCCAAAAGCCGTATAAACGTCTACCCTCT TCCCTTGCACACAGCATTTATCTCAACATTGTACATGCGTGCCCACCAAT TTCATGTTCTGCGGGGCACAGAACCTGCAGTCATAATAGCTCTTGTCAGA AACCAGCCAATGAACAGCAGGAGAATGAATAAATACTGGGGCATCTGCAC CCATCGGATCTTCTCACAGCAATCAGAACTCACAAATGACAACCGGCACA ACCTTAAGCCTTGATCTCTCAAAGCTGAGGTTAATCCAAACCCAAGACAG TGCATACCATGTGGTTCCCTACACGTGAAACAAAAACCAGCCAAACTAAT CCTAGGTGCTGTTACAACAGAGGGTGCCTTTGTGGGAGGCAGGATGGGGT AGCAGGAAAAGGCACCTGGGGATGAATCCGCTATTCTATTCATTGATTTC AGTGCTGGGCATGAGTGCGTTCAGTTTGTGAAAGTTCGTGAAGATGTATG TGTCTGATTTTTTGCACTTTGCTCTATGTAAGTTCTATGGCAATAACAAT TGAGGAAAAGAGACTGAGATATAAACTCCCGCTTATGGCCAATCTGTGGC AAACTTCCACCCCATAAAACAACCTCAGGAATACCGCCTTGTATACTGGG AATTTGCCGAAAGAGTAGATTTCAGCTACTCTTTCTACACACACGTACAC AAAGGTAATTACATCAGGAGACGGATATGTTCCTTTGCTTCATTGTAGTA ATCATTTCGCTACATATACGTGCATCAAAACATCATGTATGCCTTAAATA CATACAATTAAAAACAACACAGGCTGGGCGCAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCA AGACCATCCTGGCTAACACGGTGAAACCCTGTCTTTACTAAAAATACAAA AAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0030 a0002c0017t0002g0030	1	262	0.0038	-1953	c.-50 others(11): Show c.-5035_-3083del	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		3048		chr19	TogoVar
RIPK1_chr6_3063494_3120187	3090743	TGCACCTA others(1946): Show TGCACCTAATAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGA GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACCT AGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTA CCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAA CCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGC CGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGA GCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCT CGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTA CCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACC GCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCG CACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0098 a0001c0001t0006g0098	1	340	0.0029	-1953	c.915 others(17): Show c.915+1094_915+3046del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092159	GCCTACCT others(1946): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGA ACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTG CCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAG CGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCAC CTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAA CCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGC CGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA GCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCT AGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTA CCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACTGCAGAGCGCCTACCTGCCGCACCTAGTA ACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTG CCGCACCTAGTAACTGCAGCGCGCCTACCTCCTGCACCTAGTAACTGCAG AGTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	340	0.0029	-1953	c.915 others(17): Show c.915+2525_915+4477del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DLGAP2_chr8_732628_1713476	1013735	GTGTGTGT others(1944): Show GTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTG TGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGA CGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGC CTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTC CACTGCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGG ACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGA CAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGT GTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAG ACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGA GACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTG ACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCA TTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGT GAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGA CGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG TGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTC CACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGG ACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGAC GGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTG TGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCC TCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCT CCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTC CACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTG TGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGA CGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGT GTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC AC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	-1951	c.73+ others(19): Show c.73+105791_73+107741del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
PARD3_chr10_34104561_34820296	34465707	TATGTTAA others(1944): Show TATGTTAATTGTTTAGGGGGAAATATCATTTACAAAAACAATGCCACTCA TTATTTAGAGGGAAGGAACAATGGCTTGTAGCAACTGCACAGTGAAATAG TCCACAGTCCTTATCCCCGGCACTGCATGGAAAGCAGATTCTTCTAAGAG CTCATTACATCTTTCTTGATGGGATAAATCACATGCTCTCCACAGACTAG CTGGCCTCTTTATTCACAGCAACACTGACTTAATAAGGAAGACCAAAGAG GTGGCAAGATGATTTAAGTATTCACACCGATTGAAATACTCTTCCTCAGG ATAAAATATTAACCACATGTTAACTCTCAAATGAAAATACAGCCTCTAGC AAGAAACTTTCCACACAAAGTATGAGCAAAATGTTCCCTAAAACAGTTGG AAAAGGTAGTCAGCCACAAAATACTGGACACAAAGGTGAGTATTTCAAAT AACTTTGAAAAAAGCCACAACTCCCTTACCCTCTCCATCTCACTTCCAAA TGAAAACATGAAATATTTTAAGAAATTCAGAAGCCTATGGGACCCTCGGC CTCTTCAGGCCCTCAAGCAACTGAGTATCATCATCATCTGTACACTCTGC CCACTAAGCTAATAGTGGAATGAGATTATGACCACTATTTCAACAAGGAA GACTCCACCTCTCGTTTGTGATTTTGAACCAAAGGAGAGAGTTTGACATG ATGGTGCTCTAACATATCAGAATACAACTTTCCTGCTTAGAAACAAGATT TTAATTGATTGGTAACATTATTCTAAAATAATTTACTCTGCTCATTTAAC TTGGAAGAATATAAACCACTTAACTATGTAGATGAGTTATTTAAGAATGT TAACTTATTTTAACCACTAGAGATCACTAAATCAGAGGGCTATGAATGCA CAACTAATTTATTTCTACAATTTTATACAGAAAACCTGAACCACTACAGA CTCATAAGAATTTATAACATCTTAAAGCATGAGACCATAGGTAAGCTCTC CTGGGCTTAACAGAAATAAATAAATTGAATGCTTTGTACCTAAGCAGCAA GTATGCTTTCCTTCCTTCTGAATATTGAAAAGATGAGGAGGCTTTTTATA ACTGAAAATAAAATGCCATCTAATCATATTTATATATGAGCTCTCAGACT AAAATACAAACAGCATAAAACGCAGACAGCAAGATTAGTATTTGAAGAGT AAAGCCAACGAAAATTCAAAATACTAATTCATTACACATTACTATTTAAG TATATCATATGCGAATATCACTTCATCTAAAAATATGTATGTAGATCAAG GCTTTTCCTATGGGAAAGTATGGGCATCTGGTTACATTAAATACTGCTCC ATGGAAGTAAAAAGATTGCTGAATATTTAACAATTTTTAAGATAAATATT ATATTTAAGGATGTCTCACAACACTGATACTTAAAATGTGAAAAAAAGAG AAAGAGCATGGATGTCCAAAATTGAGAGAAAACAGAATACAATCTACAAT GAAATGTTTTACACTCATTAAAATATTGATAATAAAATTCACACCAGGGA AAATCCCTATTGTACGAAAAATAATGTTGAAATAATCAGGATGCAAATAT ATGAACATAGCATGACTCCAACTTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTAAATACTGGTTGTTGCTGGGTTCTGGAGTTATGAATAATTTTAT TTTGTTCTATAAGTTCGCCAAATTTTCTACAATGATAGTAGCATGTCATT TAAAACAACAGGCTGGGCATGGTGGCTCATGTCTGTAATTCCAGCCTTTG GGACGCTGAGATGGGAGGAACACCCAAGTCCAAAAGTTTGAGACTGGCCT GGGCAACACAGCAAGACCCCGTTTCTAAAAAAATTAAACAACCAGCCAGG TGTGATGGCTAGTGCCAGTAGACCCAGCTACTTGGGAGGCTGAGGCAGGA GA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03579.hp1 HG02723.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0027 a0001c0001t0006g0030 a0001c0001t0002g0027 a0001c0001t0006g0030	2	100	0.0200	-1951	c.582 others(17): Show c.582+2427_582+4377del	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	4/24			chr10	TogoVar
D2HGDH_chr2_241729630_241773811	241765405	CTTGGGGA others(1943): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0072 a0001c0001t0022g0072	1	412	0.0024	-1950	c.130 others(18): Show c.1307-2255_1307-306del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR47_chr1_108965214_109047102	109030609	CTTCCAAG others(1942): Show CTTCCAAGTATTACAGAGTGCCTAACATGGAACAATAGTGCTTTACAACA GAACTTCACAAACAAAAATGCAGACAAGAAGATGAAGTGTCATGAAGCTT TTCAATAAAATACCAAACTGCAACACAGGACTACTGCATCTTTTCCTTTA AAAAAAAAAAAAAAAAGGAGAAAAAAACTGCTAGCTGTTTTTAATAACAT GGCATTCAAAAAACTTTATGTTGCTGCCAGGTCATTTAATTTTAAATGTC CAGACCTGCAGGAATATATATGTGATGTTGCAAGTCACTAACCTCTATGG GCCTCAATTTCTTCATTCATAAAGTAAGGGGATTCGTTTGTCTAATTTCT ATGATTTCCCTTCAAGTTTTATAATTTGCTTTAACTTACATTTCAATATC AGAAAGTACATATTCTTGGGAAACATCAAGAATATATAGAAAATATAAAG TCCGGGATAATCAGAAGCCTGTAATTAATAAAGTCTGTTTAATAAGAAGA AACAAAATAGATTTGCATTAGATCACTTAAGCAAACAAACAAAAGAAAAG CTCTTCTAACCAAAGCTCTGTCATGTCTGCTAATCACCTAACATTTGTAA CATGGGTGCAGCACGTGCCCCTGCTTACTGTTGACAGCAGTTCTCAATTT ATCAATTACTTTAATTTACCTTCTGGAACTGTGAATGATTTTTGGCCAGA AGAAATAAATTATGTTTAAAGCAGGTGCAACTTTATATAACTATAAAAAG AAACTAATATAAACTGTATGTTGTATACATGCATAAAATATCTCTGGAAA AAAATATAAGAAATTGGTGATACTGGTTGTATCCTAGAAGGAAAACTAGA TAAGAATAGAAATGGAATCTGTACAACAAAGCAGCCCTGTAACATGAGTT TACCTATATAACAAACCTGTACATGTACCCCTGAACCTAAAATGAATAGG AATGGGAAGATCACTATATACCCTTTTGAATTTTGTACCATGGACAAATA TTACCTATTCAAAAAATTAAAAATAATAAAACATAAATAACAAATTTACA TTTGCAAACTACTAGAAGGAATTAGTAAACTAATGCATATAATGAAGTAA TAATATTTCAAAGGAATTTGTATTTCTTCCCCATAACCCAAGACCTCTTC TCAGATCTGATTTGAATATCATTTCAATCTTTCTTTCTTTTTTTTTTTTT TTTTTTTTTAAGACAGGGTCTTGCTCTCAACACCAGGCTGAAGTGCAGTG GCACGATCTTAGCTCACTGCAGCCTTGACCACCTGAGCTGAAGAGATCCT CCCGCCTCAGCCTTCCCAGTAATTGGGACTACAGGCATGCACCACCATAC CTGGCTAATTTTTGTGTTTTTTGTAGAGACAGGATTTCACCATGTTGCTC AGGCTGGTCTCCCACTCCTAGGCTACAGATATCTGCCAGCCTCAGCCTCC TAAAGTGCTGAGAACGCAGGCATAAGCAACTGCACCTGGCCTCAATCTTT CTTTATGAGACTAAGGACTAAGGTATGTGTGTTCTTTCCATATTCAAACC CAGAAATTTTTAAACAAGTATGTTTAAAATTACTGAAGTACTAACAATTC ACATGATAAAAACGATTTTCTGGCCAGGCGCAGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCGGAGGCGGGTGGATCTCGAGGTCAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAGAAGA TTAGCCAGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGA GATCGCAGCACTGCACTCCAGCTTGGGCGACAGAGCGAGACTGTCTCAAA AAAAAAAAAAAAAGATTTTCTTACTCAAGCTGCTCAATTAAGTCATGTAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00639.hp1 others(96): Show HG00323.hp2 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02895.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18983.hp2 NA18986.hp2 NA18994.hp2 NA19002.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0010 a0005c0008 a0001c0001 a0004c0010 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0004c0010t0002 a0005c0008t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(94): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0214 a0001c0001t0001g0235 a0001c0001t0001g0266 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0047 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0324 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0008g0315 a0004c0010t0002g0250 a0005c0008t0001g0185	99	344	0.2878	-1949	c.-9- others(15): Show c.-9-9037_-9-7089del	WDR47	ENSG00000085433.17	transcript	ENST00000369962.8	protein_coding	1/14			chr1	TogoVar
DPH7_chr9_137549444_137583925	137565424	ACTCTGTC others(1941): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0173 a0001c0006t0001g0173	1	340	0.0029	-1948	c.641 others(16): Show c.641-2218_641-271del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ADARB2_chr10_1172313_1742525	1235589	CCCCTCTG others(1940): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTT CAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAG AGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCC ACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGAT TTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACG TAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTA GGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGC GAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAG TTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACC AGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGG CGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGT GTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCA TGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATT TGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCC ACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTT CTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTG CCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCC TCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTC CGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0027 a0001c0001t0018g0027	1	106	0.0094	-1947	c.136 others(19): Show c.1362-3691_1362-1745del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
BCL9_chr1_147536501_147631216	147570826	GGTTTCTC others(1938): Show GGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAT CTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTG TGCCCAGCCCATTGACTGATTTTCTTTTTTTCTTTTCCTTTTATTTTTTT TGAGATGGAGTTTTGCTCTTGTTGCTATCGGGGTATTTGCATGCATCTCC CATCCACCAGGCTGTACACCCTGGGACCCACCAGGTGCCCCTGAGAACAT AGTAGGTCACACACGTTCCAAGGCATGTCTCATCATAGAGACAATTCGTG GTCAGGAGGTAATAGCTCATTGTTACAGCATTTGCAGTGTGTGATCGGTT GTGGCATTTGTTCTCAGAACTTTTCATTTTTGATTCTGACTGCTCTGAGG TGGGTAGGATTGTTTTTATTATCCCCATTTTACCTAGAAAAAAAATGAGA CAATCTGGTCTCAGATCTGAGTCTTCTGATTCCAAATCCTTCCTTCCTTC TTGAGCCTTCTGGCCAACCATCACTGATACTCCCATTCTGCAGAGAAAGA CCAACCTGACACCACCCTTGGGTGGTGTATTTTAGACATAGGCAAGAGTG GTTTCAGGTTTTCTAATCTCCAAAAAAGTAGCTGCAGCTAGAGACCCTCC TCTTCATCAAAGCAAAGCTCCTGGGTTGGGAGGAGCTCAATGAACTGGGA ATTTGGGGGAGAGTTTACCACTAGCCCCTCCCCAGGTTATGTTGAAGTCC CTTAGTTCTTCCTCAAATGGTGAAAAAGCACCCTTTTCCCTGTATCCCAC TCCCATTTTCCTACAGAGGGACCTCAGGGTGATGGAAATCAGAGAGAGGA AATGGCCTCACAACAAGGTGTGGTGGTAGGCAGCCCTCCAGACACACTTG GTAAGAAAAGCTGGACCTGCTGAGGGTTGCCTCCTGCAGAGATAACACAG GAAGAGGAGAGAATATGTGCCTTCCCAGACCTCTGCATACCTGAAGCAGC ATCTAAGTTTCCTTGGTTTTGCCCCAAACTCCTGTACCAGAACCCAGGAC TCTATTCATTTTCTCTATGCATTTGATCCACATACGTTTATTGAGCACCT ACTATAAGCCAGGCCCTGTTTGGGTATAAGAGATAAAACATCATGCCTGT AATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTGTACT AAAAATACAAAAAAAAATTAGCTGGACGTGGTGGCGGGAGCCTGTAGTCC CAGCTACTCGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGG AGTTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAAGTA GAGCGAGACTCCGTCTCAAAAAAACAAAAACAAAAACAAAAACAAAACAA AAACAAACGTAAAAGAGATAAAACACCGTAAAACACAATTCTGTCCTGGA GTTTACATTCTTGTGGGGTATAAGACTAAAGTCCAGGCATGGAGCAGGCT TTCTCAGAAAAGGTTCCTAAGAGACAAGTGACCAATGTGTTTCCATTTCA GCCTCTCCTAGCATTGATAGACATCACTTCCAGGACAGGCTAGAGCTCTG CTGGATGGGAAAGCTTTTGACCTGAGCTGACCATAGGTGACCAGCCAGTA TGCATTCTAATCACCTTAACACCTCTTTAGAAGGAAAGGTTCATAGGTAG AAGTTTTTGTTTGTTTGCTTTTGAGACAGAGTCTTGCTCTGTCACCCAGG CTGGAGTGCAGTGGCACGATATTGGCTTATTGCCACCTCTGCCTCCTGGA TTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTG CGTATCACCAAGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	316	0.0032	-1945	c.-47 others(21): Show c.-478+29158_-478+31102del	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CERKL_chr2_181531672_181662105	181578466	ATTTTTAT others(1937): Show ATTTTTATATTTTTTCTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTCA TCCTGAACTTGGAGTCAAGTGAATCACCTGCCTCAGTCTCCCAAAGTGCT AGGATTACAGGTATGAACCACCATGTTTGTCCTTGTCTAGGAATATTCTA TGCATATACAAAAATGCACGTATATTCTACAGCTTTTCACATAGACAGCA GCTTCCCTACATGCTATTCTGTATCTTGCTTTTTCCTTTTACTGTATTTT AAAGATGACTCCATATCACTACATAGGATGCCATCTCACTCTATCTAAAG CTGCCTCATATTCATCTGGATGAATTTACTTCAATTCTTTTGTATGGATG AGTCCTTGAGGATAAATGTTCAGGTTGTTTCCAATCTTCCTTTACTGCAA ATAACAATGCAATGAATGCTATTCTCCATCTATTTGATGCAAAATGGACA AACTTCTGGAAGTAGAATCACTGGATCAAAGAGTACGTACTCTTAAGGTT TTATCATATAGTGTTAAATCACTCACTACAGAAACAGCAGAGTTGCGACC AAAAGTGGACACTTGAGAAAAAGGAAATGGTCTCAAATCTTCACTCTGTC ATTTATTAACTGTGTGACTTTGAATTACTTGTCTAACTTTTCTTCAAATT CCTCACGTGTAATACAGAAATAATGGTACTTTCTGGATAAGTTAATTGAG ATAATTAAATGTAAAGTGCTTAGAAAAGCACCTGGCACAAAGTATTCAGT AAATTTTTCTCTTATTACTACCAATTTACACTCTACAAGGAATTTAGATT GCCTGTTTTCTTACATCCTTATAAACATAAACCCACAGTATGTTCAAACT TTTTGATCTTTGACAAATGAAAAGTGAAATACTGTATGTGACTCTAATTT CAATTTCCATTTCTCTTTTCATGAGAGGTTGTAAAATTTTGTAAATGTTT AAGAGTTATTTTTTCCATGAACTTTCTATGTATGTCACTTGCCAATTCTT CATATTTTCTTTGTCAATTATGGCAGTACTTTACACAGTAAGAAAACTAG GCTTGTTATGAGTTACAAATGCTTTTCCTAGTGTGTCATTTGCCTTAATA ACTTATGTTTTCTCCATACTGAAAGTTTTCGCTTACACGGACCTATATTT GAATTTATCAATCATCTCTTTTATGGCCTCTGGGCTTTGTATGATATTTA AGAGTCCCCTTTTGAGACTTAAAAACTGCATTTTTCTTCTAATACTTTTA TGGTCTCAATTTTATATTTTCAATTGTATCTGAAGTTCATTTTGATAAAA GGTAAAAAGTTGGGATTTGACTTTCATTTTTTCCAGATGGCTATCTACCT ATCCCAACATTATTCATTGGAAAATCCATCTTTCCCCACAGATTTTAAAT GCCACCTTTAGAGGTACTAAATTTTTGTATGTGTTTGGATCTCTTTCTGC ACTGCCCATCTGAGATCCACTGATCTATTCATATGTCAGTACCATCTTTT AAACATTATAGTTTTATAATGACTTAATAGTCAATAAGACTGGTCTCTCA TTACTTTAAAGAATTTTTCACATCTATTTTTGCTTATTTTTACATATGAT CTTTGAAATAAGTTTGTCTAGCTTAAAAACATTCTCCTGGTATTTCACTG AGATTGCATTAAATATAAATTATCTTAAGATCAAATAATACTTTTGTGAT GTTCAATTTTTCTGTATAGAAACATGGTATGTTTTTCCACATAAATAATC TCCTGTGTCCCTCAGTACCATGTTAAACATTTTAAGATAAGTGGTGAACA ATTCTAGGTTTATCAGCTTTTCGTTGCTGCTGTCAACGTGTTTTTCCCCT AACTGATCTCCTAACTGGCTATAGCCTGCATATATCAAAACTATTGATTT CTATACCTAGCCCTTTCCTTAACTGCTTAATTGTAGGCCTTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02486.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0013 a0001c0001t0013 a0001c0002t0013	a0001c0001t0013g0208 a0001c0002t0013g0138 a0001c0001t0013g0208 a0001c0002t0013g0138	2	298	0.0067	-1944	c.482 others(17): Show c.482-6526_482-4583del	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	2/12			chr2	TogoVar
DPH7_chr9_137549444_137583925	137565310	TGTCTGTG others(1937): Show TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	340	0.0029	-1944	c.641 others(16): Show c.641-2100_641-157del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DCTN5_chr16_23636466_23682472	23643248	GTGGCCCC others(1936): Show GTGGCCCCATCTCAGGTCGCTGCAACCTCCGTCTCCCAGGTTCAACCAGT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACCA AGCCCGGCTAATATTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTT GGCCAGGCTGGTCTTGAACTCCTGCCCTCAAGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCCAGCCTAAGT TGGATCTCTTGAATGCAAAAAGGTTCAATAAGAGGCAACAGAAAACCTTT TTTCTTTTATGCCAGGAACAAAATACAGTGGTACCTAGAACCAACATTAT TTTATGATATAGTGTGCATTAAACTACTGGGCACAAAGTGTAACAGGTAA TGAAATATTTGAAGGTAGAAACTAAAGTAATACTTATAAAATTATCTCTT TAGTAAAAATTAATAATTCACTATTAACTGAAACTCTTAAAACGAATGTG ACAATTGGAAAAGATATTAAAGTATGAGACAAATATGCAAAGTGGAATCT GAAAGCCTGAGAATCTTGTAATCCAAATAAATTACAATAGCAAAGAGACG AGTATAAACTTGGAAGAGAAAATATCACAGGGTATATTTGAGCTTGACAA ACAGTGAAGTTCACAGTTGTTTTCCTGCCATCTGGAACACTCAATTTTGA AATTAATTTTTCTTTAAATATTACATCTCTAACTTCCAGAAGGAAAATAG TCTCCTTATAACCAAGAGATCACAAATATTTTCAGTAGAAGATAATTAGT CTCCATTAAGCCTGTCATACCAAGGAATTAAGTGGAAAAGAAATATAATT CAGTAATTGCTGCTCAGACATACTGTTTCTTTTTTTTCCTTTTTTGTTGA GACAGAGTATTGCTCTGTCACCCAGGTCGGAGTACAGTGGCGCGATCTTG GCTCACTGCAACTTCCACCTCCTGGCATCAGGTGATTCTCCTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCTCCCGCCATCATGCCCACCTAATTT TTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCTGTTGCCCAGGT TGGAGTGCAGTGGTGCGATTTTGGCTCACTGTAAGCTCCGCCTCCCAGGC TCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGCAC CCACCACCATGCCCAGCTAATTTTTTGTATTTTTATCAGAGATGGGGTTT CACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTG CCTTGTCCTCCGAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGG CCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGG CTGGTCTTGAACTCCTCACCTCAGATGATCCATCCACTTCAGCCTCCCAA AGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCCAAGATTTTTTT TCTTATGGTGAACTATGTATAACAATTTGCCATTTTAACAATTTTTTAAA AATTTTTATTATTTGAGACAGTTGCCCAGGCTGGAGTGAAGCGGCGCCAT CTCAGTCGCCACAACCTCCGCCTCTTGGCTTCAAGGATTCTCATGCCTCA GCCTCCTGTGTAGCTGGGACTACAGGTGCACGCCACTACACTGGGCTAAT TTTTGTATTTTTAGTAGAGGCAGGGTTTTGCCACGTTGGCCAGGCTGGTC TCAAACTCTTGGCCTCAAGTGATCCACCTGCCTTGGCCTCTCAAAGTACT GGGATTACAAGTGTGAGCCACTGCACCCAGCCTAACTATATATATATATA TATATATATATATATATATATATATATATATATATATATATTTTTTTTTT TTTTAATACGCAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02132.hp1 NA18977.hp1 others(1): Show HG00280.hp2 HG02132.hp1 NA18977.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	4	314	0.0127	-1943	c.117 others(16): Show c.117+230_117+2172del	DCTN5	ENSG00000166847.10	transcript	ENST00000300087.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
PALB2_chr16_23598165_23646310	23643248	GTGGCCCC others(1936): Show GTGGCCCCATCTCAGGTCGCTGCAACCTCCGTCTCCCAGGTTCAACCAGT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACCA AGCCCGGCTAATATTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTT GGCCAGGCTGGTCTTGAACTCCTGCCCTCAAGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCCAGCCTAAGT TGGATCTCTTGAATGCAAAAAGGTTCAATAAGAGGCAACAGAAAACCTTT TTTCTTTTATGCCAGGAACAAAATACAGTGGTACCTAGAACCAACATTAT TTTATGATATAGTGTGCATTAAACTACTGGGCACAAAGTGTAACAGGTAA TGAAATATTTGAAGGTAGAAACTAAAGTAATACTTATAAAATTATCTCTT TAGTAAAAATTAATAATTCACTATTAACTGAAACTCTTAAAACGAATGTG ACAATTGGAAAAGATATTAAAGTATGAGACAAATATGCAAAGTGGAATCT GAAAGCCTGAGAATCTTGTAATCCAAATAAATTACAATAGCAAAGAGACG AGTATAAACTTGGAAGAGAAAATATCACAGGGTATATTTGAGCTTGACAA ACAGTGAAGTTCACAGTTGTTTTCCTGCCATCTGGAACACTCAATTTTGA AATTAATTTTTCTTTAAATATTACATCTCTAACTTCCAGAAGGAAAATAG TCTCCTTATAACCAAGAGATCACAAATATTTTCAGTAGAAGATAATTAGT CTCCATTAAGCCTGTCATACCAAGGAATTAAGTGGAAAAGAAATATAATT CAGTAATTGCTGCTCAGACATACTGTTTCTTTTTTTTCCTTTTTTGTTGA GACAGAGTATTGCTCTGTCACCCAGGTCGGAGTACAGTGGCGCGATCTTG GCTCACTGCAACTTCCACCTCCTGGCATCAGGTGATTCTCCTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCTCCCGCCATCATGCCCACCTAATTT TTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCCCTGTTGCCCAGGT TGGAGTGCAGTGGTGCGATTTTGGCTCACTGTAAGCTCCGCCTCCCAGGC TCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGCAC CCACCACCATGCCCAGCTAATTTTTTGTATTTTTATCAGAGATGGGGTTT CACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCTG CCTTGTCCTCCGAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGG CCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGG CTGGTCTTGAACTCCTCACCTCAGATGATCCATCCACTTCAGCCTCCCAA AGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCCAAGATTTTTTT TCTTATGGTGAACTATGTATAACAATTTGCCATTTTAACAATTTTTTAAA AATTTTTATTATTTGAGACAGTTGCCCAGGCTGGAGTGAAGCGGCGCCAT CTCAGTCGCCACAACCTCCGCCTCTTGGCTTCAAGGATTCTCATGCCTCA GCCTCCTGTGTAGCTGGGACTACAGGTGCACGCCACTACACTGGGCTAAT TTTTGTATTTTTAGTAGAGGCAGGGTTTTGCCACGTTGGCCAGGCTGGTC TCAAACTCTTGGCCTCAAGTGATCCACCTGCCTTGGCCTCTCAAAGTACT GGGATTACAAGTGTGAGCCACTGCACCCAGCCTAACTATATATATATATA TATATATATATATATATATATATATATATATATATATATATTTTTTTTTT TTTTAATACGCAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02132.hp1 NA18977.hp1 others(1): Show HG00280.hp2 HG02132.hp1 NA18977.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0193 a0001c0001t0001g0196 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198	4	326	0.0123	-1943	c.-40 others(11): Show c.-4034_-2092del	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		1939		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2280332	GAGGAGGA others(1935): Show GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGG GAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAAT GGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGG AGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAG AGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGA GAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGG AACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGA GGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAG AGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGG AAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC GAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGA TGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGG AACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGA GGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAG AGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAA ATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAG AGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAA GGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAA CGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGAG GGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGG GGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATG GAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0010 a0002c0005t0008g0010	1	50	0.0200	-1942	c.388 others(18): Show c.388+9228_388+11169del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIP2C_chr10_269201_694668	402001	AGCATTAG others(1934): Show AGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCATCAG CACATGAATCCTGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTC CTTATGGACAAGTTTGGTACGTTTTCATCAGCACATGAATCCTGTGATTT TACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTA CATTTTCATCAGCACATGAATCCTGTGATTTTACACGTGTGGTAGCATTA GCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCATCAGCACATGA ATCATGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGG ACAAGTTTGGTACGTTTTCATCAGCACATGAATCCTGTGATTTTACACGT GTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTC ATCAGCACATGAATCCTGTGATTTTACACGTGTGGTAGCATTAGCATTAC TCTTCCTTATGGACAAGTTTGGTATGTGTTCCTCAGCACATGAATCCTGT GATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTT TGGTACATTTTCATCAGCACATGAATCCTATGATTTTACATGAGTGGTAG CATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCATCAGCA CATGAATCCTATGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCT TATGGACAAGTTTGGTATGTGTTCCTCAGCACATGAATCCTGTGATTTTA CATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATG TGTTCATCAGCACATGAATCCTGTGATTTTACATGTGTGGTAGCATTAGC ATTACTCTTCCTTATGGACAAGTTTGGTACATTTTCATCAGCACATGAAT CCTGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGAC AAGTTTGGTACATTTTCATCAGCACATGAATCCTGTGATTTTACACATGT GGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCCT CAGCACATGAATCCTGTGATTTTACATGTGTGGTAGCATTAGCATTACTC TTCCTTATGGACAAGTTTGGTACATTTTCATCAGCACATGAATCCTATGA TTTTACATGAGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTG GTATGTGTTCAGCACATGAATCCTATGATTTTACATGTGTGGTAGCATTA GCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCCTCAGCACATGA ATCCTGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGG ACAAGTTTGGTATGTGTTCATCAGCACATGAATCCTGTGATTTTACATGT GTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTACGTTTTC ATCAGCACATGAATCCTGTGATTTTACACGTGTGGTAGCATTAGCATTAC TCTTCCTTATGGACAAGTTTGGTATGTGTTCATCAGCACATGAATCCTGT GATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTT TGGTATGTGTTCATCAGCACATGAATCCTGTGATTTTACACGTGTGGTAG CATTAGCATTACTCTTCCTTATGGACAAGTTTGGTACATTTTCATCAGCC CATGAATCCTGTGATTCTACATGTGTGGTAGTATTAGCATTACTCTTCCT TATGGACAAGTTTGGTACGTTTTCATCAGCACATGAATCCTGTGATTTTA CACGTGTGGTGGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATG TGTTCCTCAGCACATGAATCCTGTGATTTTACACGTGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG00673.hp1 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0054 a0001c0003t0002g0040 a0001c0003t0002g0054	2	88	0.0227	-1941	c.115 others(19): Show c.1150-4723_1150-2783del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	9/36			chr10	TogoVar
ERBIN_chr5_65921575_66087546	65972197	CACCCTTG others(1934): Show CACCCTTGGGCCATGGAGTTTTATTGCAGCAAAAACAAAAATCCATATGT ATATAAGTGTTTTCTCAATAGGTATATTGACAGTGGACTTACTATGATGT GGAGCTTTGACATTTGTGGACCTGCTGCGGTGTCCTTACACTCATTGAGA ACCATTGATGTTACGCAAATGCTATTAAACTTTGCATCTAAGACTTCTTA TTTGTCCTGTGACCTTTGATTATATTTCAACATGCATAAAGTACTTTAGA GAGATGGGGAGTGCCATGTATGTGAATGAACTTGGCACTAAGCACCCCAT AGTTTCTACAGAAAAATTTAAAGAATATTTGTTACTTAAAATTAAGTACT TTCAAAATAATGTTTGGTTAAGTAGAAGCTTAAATTTTTGTTTTTCTTCT TTTCCTCTCCATATCTGTTATACTATTTCACTTACAAAATAAATCTTCAG CCTTAAGGGATGTTTGGGATAGTTTTACAGGATTATGGATTTTATTCCTA AAATAGATCTGAATGCTACAAAAAGTGAAACTTTTTAAAGATAAGATTGT CATCAAGTGGTGGTATTTTAAAGCTTTACTTATAAGCGGTAATAATTAAC CTTTGAAAATCCTGCTGTAATAAGGTGTTGAGAGTGATCTAGCTTTCTTT GGAAGGTTTTTGGTGTTCCTAATCATTCCCAGCCTAAATTAACCCCAAGG AAAATGAGAACTTCAACCTGACCTCTCATTGTTTTGCCAATTCCTACGTT TTTTTCGGTTTCCTTTTGGTTCTTTTATTTCTGTTCCTTCTGTTCAGTTT AGGGGAAAGAATAAACTTATAAAGAAATTCACCTTAAGAAATTAGGGCCT TGTCACATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAATT CATGTCCTTTCTAGGAACATGGATGAAGCTGGAAACCAACATTCTCAGCA AACTACCCCAAGAACAAAAAACCAAACACCACATGTCATAGGTGGGAATT GAACAGTGAGAACACTTGGACACAGGAAGGGGAACATCACACACTGGGGC CTGTTGTGGGGTGGGGGGAGCGGGGAGGGAAAGCATTAGGAGATATACCC AATGTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTAT ACGTATGTAACAAACTTGCACGTTGGGCACATGTACCCTAGAACTTAAAG TATAATAAAAATAAAATAATAAAATAAATTAAAAAAAAGAAATTAGGGCC TTGTCTCTTCCAGATTAATTTGCATTTTAATAGAGGATGTATGAAGAGGG ACCGGAAGAAATAACTAATGGTGGAATTTCATGCACTCTGGCACTCACAT CTAGGATTCTCAAATCAGGTCATGCTTTTCAACAGGTCTGGTTCAGTTTC TAGGGCAGTAGACACACTGCATAAAAACATTTTATTTATAGTCACTTTCA TTTAAAATACCACTTAAAGAACCGAAGAAGTAATTAGTGTCTTGAATTGG GTAGGTGGAATGAGGAGTCAGTAGTAAGGCAAAAGGCCTCACCTGAACAA AGGGTTTGATTCAGTAGTAAAGTTGTATAAAGGCAAATTGGGAATAGATT AAGGAGGTTTGGGGATTAAGAAATGTTTTTTAGGTTTTTAAAGGGGAAAG GGAGATAGTAAAATAAATGATTTTAAGGAAAAAAATTAGGTGCTGACTAA ATAGAATTAGGGAATCAGTTTAGAATCTATTGTGCTAATACATAAAAGTG GGCTGAGGCCAGGCGCTGTGACTCATGCTTGTAATTCCAGCACTTTGGGA GGCTGAGGCTGGGGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGG CAACATAGCGAAACTCCATCTCTACAAAATAAAAACTAAAAAAATAACCC TGATGTGGTGGTGCACACATGTAGTCCCAGCTACTTGAGAGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02257.hp1 others(9): Show HG01109.hp2 HG01243.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02647.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0007 a0005c0006t0015 others(1): Show a0005c0006t0002 a0005c0006t0007 a0005c0006t0015 a0005c0006t0016	a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 others(9): Show a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 a0005c0006t0007g0221 a0005c0006t0007g0222 a0005c0006t0007g0223 a0005c0006t0007g0224 a0005c0006t0007g0226 a0005c0006t0007g0227 a0005c0006t0007g0230 a0005c0006t0015g0225 a0005c0006t0016g0299	12	306	0.0392	-1941	c.-57 others(19): Show c.-57-16347_-57-14407del	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	113984173	CACTCACC others(1934): Show CACTCACCCCTCAGTCCATCCATCACTCACCCATCTGTCCATCCATCACT CACCCATCTGTCCATCCATCCATTACTCACCCATCTGTCCATCCACCCAT CACTCATCCCTCGGTCCATCCACCCATCACTCACCCTATCCATCCACCCA TCACTCACCCATCCGTCCACCTACCCATCACTCACCCATCCGTCCACCCA TTCATCACTCACCCATCTGTCAATCCACCCATCACTCACCCCTTTGTCCA TGAACTCAACACTCATCCATCTGTCCATCCACCCATCACTCACCCATCCG TCCATCCACCCATCACTCACCCATCCGTCCATCCACCCATTACTCACCCA TCCATCCATCCACCCATCACTCACCCACCCATCCATCCATCCACCCATCA CTCACCCTTTGGTCCATGAACCTAACACTCACCCATCTGTCCATCCACCT ATCACTCACCCATCCATCCATCCACCATCACTCACCCATCCTTCCATCCA CCCATCACTCATCCATCTGTCTATCCACCCATCACTCACCCTGTCCATCC ATCCATCACTCACCCATCTGTCCATCCACCCATTACTCACCCATCCATCC ATCCACCCATCACTGACCCACCCATCCATCCATCCACCCATCACTCACCC TTTGGTCCATGAACCTAACACTCACCCATCTGCCCATCCACCCATCACTC AACCATCTGTTAATCCACCCATCACTCGTCCATTGCTCCATCCACCCATC AGTCACCCATTGGTCCATCTGAATTCCTGCTGTCTGTAACCACCCAGCCT ATGGTACAATTTTTACGGCAGCCCAAACTCACCAAGAACTTGGTACTGAG AAGTGGCTGCTGCTGTACCTTCAAATGTGGACTGGCTTTGGAACTGGGTG CTGGGCGAAGGCTGAAGGGGTTTGGGGGTGCAGAGCGGAAAAGGCATGGC TGCCATGAATGTCCTTAAAGGACAATGCTGGGGGCTCGGGAGAGGAGAGC TGCAGAGAAGTCCTGTCTTAGGGGATATCTAAGTAACCCTGAACAGAATG GTGGCATGAGCATGGGTGGCAAGGCTGTTCTAACAACATCTCAGACAGAA AGGACGGCCATGCTACTGGACCGTGGAGAAAAAGCCATCCTCGTGACAAA GTGGACCTGTGTTCATGCCCTCGTGTTCTGGGAGGGTGGAACTCGCGAGT GATGACATCAGACACGCAATTGAGGAGATTTCTAAGCAAAATGCTGTGGG AGCGGCTTGGTTCCTCCTGACCGCTGACAGCAAAATGGGGGAAGAGAGAT GATTTGAAGGTGGAATTGTTGAGCAAAAAGGAACCAGAACTCAAAGGCTG GTTGAGTTAAAAGATTTGAGAATTAAAATTCCAGCCTACCCATATCTCAA AAAAAATGAGACAGCATGTTTGGAAGAGACCATTAAGCAGGTGGCTGTGT GGCTATCTGATAAGGAGACAAGTGTGGGGCTGAGCCTTGGACTTGACCAA CCATCTCAGCAACAGCCGGGAGCAGAGAAGGAACCGCACCAGCAGAGGCA CTGCCAGAAGAAACCAGGAAACAGAGAAAACAGGATGAAATGAAGGCAGG CTGCGGTGTCTTAAGCCCTACAAGCCAGGCCATAGAGCTATTCAGCTGTG AACATGTGCCATTCTTCAAGACGAGGGAAGAAGGACCCTGAAGTGGGTAG GGCCATCAGAATGCCACTCTCACCCAGAATGAGTCCATGGACCATGTATC AGATGCAAAATTCTCAGCTGGAATATTGATTAAAAAATAAAACTGGCAAT AACTAGAAAAAAAATCGCAATAAGGAATCTGTCCACCCAGCCATCACTCA CCCATCCGTCCATCCACCCATCTGTCCATCTACCCATTACTCACCCATCC ATCCCTCCACCCATCACTCACCCATCCATCCATCCACCCATG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0011 a0001c0001t0006g0012	2	67	0.0299	-1941	c.224 others(19): Show c.2246-4256_2246-2316del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	22/23			chr13	TogoVar
BAG3_chr10_119646380_119682819	119678407	CTCCAACC others(1932): Show CTCCAACCTGGGCAACAGAGTTGAGACCCTGTCTCTAAAAATTAAAAAAG GAAGCGCACAGGGAAGCCAGCTCCCACTATTGCCCAAGGCTGGCCAAAGT GTTCCTTGGAGTCTAGGTCACTGGGGGTTGGAAATGTGCTCTGAGAATCT TGGGGTCATCTTTATTAACACCTTGTGAGTCACCAAACCAAACTGAGACC AGATTTATCTTCCTGGATTGGGTTCCTAGAAGCCTCTGGAGTTAGGGACG AGATACACTCAGGCCTGGGTAGAAGGAGATTCTTCTTGCTGTGCCAGTGG CTTTTTTTTTTTTTTTTTAACCTTGGGAGGGACCACAGCCCCACAGCATG GAGATGTGCTGGATTTGTTTATTTTTTATTTTTATTTTATTTATTTATTT AACTACTTGCCAAATAAAGTGAAAAGAGAAAGGCCTGAGACCTTGGAACT CTCAGTGAAGTGCTGACTTAAGAGCCCCCGAGCTGAATTTCTCATGACTG TATTGAGTTTAATACTGGTGCCTGACGATGCTGCACAAAAATACACCCTG GTGTGCTTGCCACTGTTAGCCTGCTGAGGAAGGCTGAAGTCATTCCCATG GGAATCTGCCAACATCATTCCTGGGTGAACTCATTTGGGGAGTACAAGCC GACATGCCACTGATTCTAGAAACTCGAACATGTAAATAGGAAAAAAAAAA AAAAATACTAGACTATTTTAAAAATGAACCAGGCTGGGTGCAGTGGCTCA TTCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAG GTCAAGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCCACCTCTAC TAAAAATACAAAAATTAGCCGGGCGTGGTGGCATGCACCTATACTCCCAG CTACTTGGGAGGCTGAGGCACGAGAATTGTTTGTACCTGGGAGGCAGATG TTGCAATGAGCCGAGATCACGCCACTATACTGCAGCCTGAGCAACAGAGT GAGACTCGATCTCAAAAAAAAAAAAAAAAAGAACCAAAGATGATGTGACC ACTTCTCTTTGGGACTCAATGGACCTCATACGACGTTAAGCCTCCTTGAG TGGTTACTGGATTAGGTTGATAGTATTTTTATCACTAAACATCATCAAAT AAGTAGCTGTTTAATGTGGTTGGAATATTTTCAATCATCCAAATGAGACA TGCTGTGGGCATCAGGACGGGAGTTATCTGGCCTGTGTTGGTGGCCCCTG GGCCTTGTGTGGGGAGCAGGGCATAGAGCTAGCTGTACGCTCTTGGTGAC ACAACTGTCTTGGCCCCTGTAGGCATTGGGGGGCTACAGCCACTGAGCAT CTACCGAGTGTCAGGGCTATTTCCTGCGATGCCTGCTCAGGCCCTCTCTA TCTGCTTTTCCAAATCTTCCGACTCCATTTTTTTTTTTTTTTTTTTTTTG AGATGGAGTCTTACTCTGTCGCCCAGGCTGGAGTGCAGTGATGCAATCTC AGCTCACTGAAACCTCTGCCTCCCGGGTTCAAGCGATTGTCCTGTCTCAG CCTCCCGAGCAGCCGGGATTATAGGTGTGCGTCACCCCGGCTAATTTTTG TATTTTTTAGTAGAGATGGTTTTTTGCCATGTTGGCCAGGCTAGGCTAGT CTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAGTGCT GGGATTACAGCTGTGAGCCACCATGCCCAGCCTCCAGATCTTCCCACTCT GAGGCCCACCTTGGGTTGAAACTTTCCCCACCTGGACCACGCATTCCTTC TCAGACTCTCCCTTCCCAAAGCTCCTAGCACCCTTCTGTGCATTTGCCAA AACCCAGTTGTTTTCTCAACATCCTGAGTCATTTCCTCAGCAAGACAGAA TCCCCGGAGGGGTGGCAGGTTCATTCCGACACTTCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0076 a0002c0003t0002g0076	1	420	0.0024	-1939	c.11 others(11): Show c.1126_*3064del	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding		589		chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55407113	CTGAGGTA others(1932): Show CTGAGGTAGGAGGATCATCTGAGACTGGGAGGTCAAGGATGCAGTGAGCT GTGATCATGCCACTGCATTCCAGCCTGGGCAACAGGGCAAGACCCTGTCT CAAGAAAAAAAAAAGAATATACTGTCTAAAAATTTTCCATGAAGGACTAC TGAGATATCTCACAAAGTCTGATTTTTAACATAAGGATTATGTTAATATA AAAAGTTATGGGCTGGGCAAGGTGCCTCATGCCTGTAATCCCAGCACTTT GGGAGACTGAGGCAGGTGCATCATTTGATGTCAGGAGTTCGAGACCCGCC TGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCCA GGCATGGTGGTGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGACACAG GAAAGTGGCTTGAAACCGGGAGGCAGAGGTTGTAGTGAGCCAAGATCGCA TCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAATA AGTAAATAAAATAAAATAAAATAAAATGTTATAAACAATTACCTTTTTTT CCTTCCCCACTATTACATTATTTCTTAATTTATTCATTGCCCAGCTTTCT AGTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTTCCAG GCTGTAGTGCAGTGGCATGATCTCAGCTCACTGCAGCCTCCACCTCCCAG GTTCAAGGAACTCTCCTGCCTCTGCCTCCCGTGTAGCTGGGATTACAGGC ACCCACCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTGGCTTGGCTGGTCTCGAACTTCTGACCTCAAGTGATCCAC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC TGGCCCTTTCTACTTTAATTCAAAATACTAACTTCTACCTCTAGTGTTAA ATCAAGAGATCATAGTTTCATTAAAAAAATAAGGAAGAAAGTTCCTTCTC CACTTTACGTATCTTCATTTTATTCTATTTTATCCACCCATTAGTACTGT CTAATCTTGGTCCTAATCACTATTCAGAATTGCAACCTCCAAAATCTCAA ATTCTGAAAATCTACTCTGACCTTGACCTCCTATCTTTTCACCCTCTCTC ATGCCCTCACTTCTAACCTACTCTTCCTTCATTCTTATTACAACTCTCAG AGGCGTTTGAACCAGAGCAACTCCATCTCGAATAGGGGCTAGGTAAAATA AAGCTATGACTTGCTGAGCTTCATTCCCGGACAGTTAGGCATTCTAAGTC ACAGGTTGAGATAAGAGGTTGGCACAAGATACAGGTCATAAAGACCACGC TGACAAAACAGGTTGCAGTAAAGAAACTCACCAGAGCCCACCAAAACCAA GATGCTGACAAGAGTGTCCTCTGGTTGTCCTCACTGCTACACTCCTACCA GTGCCATGACAGTTTACAAATGCCATGGCAATGGCAGGAAGTTACCCTAT ATGGTCTAAAAAGGGGAGGCATGAATAATCTACCCCTTGTTTGGCATATC ATCAAGAAATAACCACAAAAATGGGCAATCAGCAGCCCTCATGGCTGCTC TGCCTGTGGAGTAGTCATACTTATATTCCTCTACTTTCTTAATAAACTTG CTTTCACTTTATAGACTTGCCCTAAATTCTTTCTTGCCCAAGATCCAAGA ACCCTCTCTTGGGGTCTGGATTGGGACCCCTTTCCAGTAACACAACCTTT ACTCTGTAAGTTCCTCCTGATACTTGCTTTCTTCCTCACTTTAATGCTCA CACATTATTATTCAACTATTCAGCTAAGAATCTGTAGTATGTTTTTTCTC TCATCCCACGTCTGTTTATTCAGAATTTCCAATTCTGAATAAATTCTACA GGTATTTTCGTCAGTTTCTGAGCAGCTAAGCATTACTGGT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	316	0.0032	-1939	c.164 others(18): Show c.164+9764_164+11702del	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	2/32			chr2	TogoVar
NRF1_chr7_129606720_129762076	129660224	ATTATGAG others(1932): Show ATTATGAGAGTACAATTCAAGATGAGATTTGAGTGGGGACATAGAGCCAA ACCATATTATTCCACCCCTGGCCCCTCCCAAATTTCATGTCCTCACATTT CAAAACCAATCATGCCTTTCTAACAGTCCCCCAAAGTCTTAACTCATTTC AGCATTAACTTAAAAGTCCACAGTCCAAATTCTCATCTGAGACAAGGCAA GTCCCTCTGCCTATGAGCCTGTAAAATCAAAAGCAAGTTAGTTACTTCCT AGATACAGTGGGGGTACAGGGATTGGGTAAATACAGGCATTCCAAGTGGG AGAAATTGGCCAAATAAAAGGGCTACAGGCCCCATGCAAGTCCGAAATCC AGCAGGGCCGTCAAATCTTAAAGCTCCAAAATGATCTCCTTTGATTCCAT GTCTCACATCCAGGTCATGCTGATACAAGAGGTGGGGTCCCATGGTCTTG GACAGCTCTGCCCCCTGTGGCTTTGCAGGGTACAGCCTCCCTCCCAGCTG CTTTCATGGGCTGTTGTTGAGTGTCTGTGGCTTTTCCAGGCAAAAGATGC AAGCTGTCGGTGGATCTACTATTCTGGGGGCTGGAGGACAGTGGCCCTCT TCTCACAGCTCTACTAGGCAGTGCCCCCGAAGGGACTCTGTGTGAGGTCT CCGACCCAACCCCACATTTCCCTTACACACTGTACTTGCAGAGGTTCTCT ATGAGGGTCCCGCCCCTGCAGCAAACTTCTGCCTGGATATCCAGGAGTTT TCATACATCCTCTGAAATCCAGGCATAGGTTCCCAAACTCCAATCCTTGA CTTCTGTACACTTGCAGGCTCAACACCTTTGTGGAAGCTGCTAAGGCTTG GGGCTTGCAGCCCCTGAAGCCATGGCCCGAGCTCTGTGTTGGCCCCTTTC AGCCACAGCTGGAGCAGCTGGGATACAGGGCACCAAGCCCCTAGGCTGTG CCCAGCACAGGGACCCTGGGCCCAGCCCTTGAAACCTCCTAGGTCTCCAG GCCTATGATGGGAGGGGCTACTGTGAAGACCTCTGACATGCCCTGGAGAC ATTTTTTCCATTGTCTTGGGGATTAACATTCGTCTCCTTGTTGCTTATGC AAATTTCTGCAGCCAGCTTGAAGTTTTCCTCAGAAAATGGGATTTTCTTT TCTGTTGCATTATCAGGCTGCAAATTTTCCAAACTTTCATGTTTTCCTTC CCTTATAAAACAATGCCTTTAACAGCACCCAAGTCACCTCTTGAATGCTT TGCTGCTTAGAAATTTCTTCTGCCAGATACCCTAAATCATCTCTCTCAAG TTCAAAGTTCCACAAATCTCTAGGGCAGGGGCAAAATGCCACCAGTCTCT TTGCCGAAGCATAACAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTTC TTATTTCCACCTGAGACCACATCAACCTGGACTTTATTGTCCATATCACT ATCAGCATTTTGGGCAAAGCCATTCATCAAGTCTCTTGGAAGTTCCAAAC TTTCCTACATTTTCCCGTCTTCTTTTGAGCCCTCCAAACTGTTCCAACCC CAGCCTATTACCCAGTTCCAAAGTCACTTCCACATTTTTAGGTATCTTTT CAGCAGCACCCCACTCCTGGTACCAATTTACTATATTAGTCCATTTTCAT GCTGCTGATAAGGACATACTCAAGACTGGGAAGAAAAGAGGTTTCGGTGG ACTTACAGATCTATGTGGCTGGGGAGGCCTCACAACCATGGCAGAAGGCA AGGAGGAGCAAGTCATGTCTTACATGGATAACAGCAGTCAAAGAGTGAGA GAGCTTGTGCAGTGGAATTCCTCTTTTTTTAAACCCCCAGACCTAATGAG ACTTATTCACTATCACAAGAACAGCACCGGAAAGACCTGCCCGCATGATT CAGTTACCTCCCACTAGGTTCCTCCCACAACATGTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01943.hp2 HG02970.hp2 others(5): Show HG01361.hp2 HG01943.hp2 HG02970.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 others(5): Show a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0018g0139	8	384	0.0208	-1939	c.223 others(17): Show c.223+2681_223+4619del	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
BRINP3_chr1_190092658_190482864	190340695	GAACCTTT others(1930): Show GAACCTTTCTTATGAATGAGAAAACAAAATCTCATAGGCCCTGTCAAAAA AAAAAATCTGTGTAATGTAATGTCAGCCACACTTCTCAATGCTAAGTACT TGGTCCTCAGCTCAATCCTTATTCTCTAAAAGAGGATCAAGAGTACCTGG ATTCTAATGTAGAGAATACTCTATGTGAGCAGATATAAGCAATGAATTTG TCTGATACTCATTCTTTTTTTTTCCAAGAAATACTTTTTAAGGCTTAAAG ATGTATCATTTAACAGGAAAGACAAAATTTTCTGCTCTTGTGCAGTTTAT ACTCTGTTGAGTAGAACTTATATTCATCATGTTAGGGACAAAGAGAAAAA CTAGCACTAATTATCTGCTTGAGATAACTGCTATGCTCCAGTAGTTTAAG ATGAAATCCGTGGTCCAGTCATCTGGAATTTAGAAGATCCATTACCATCA CACTTCACAGAAAAGCAATCAGCCACTAGTTAGTAATTTTTGTTCTTCAC ATTGGTTAGTTGAACAAACACCTCTGTCTTTTTCAATGCTAATCTATGGT GAACACACCTACAGTAATGTCAGCAAACAAATTAAAATGTAGTAGGACAA ATAATCACTTTTAATGTTTTTCATGTTCTGTTAGTATAAAATCTCTAACT ACTTTTATTATACATGATAATATATGATGTTTAATATTTCTTCTATATTT ATCATGTTTTATTTGCACAAGAGCTTTAAAATGTACTTTTCTTTCAGTGT GTGTTCCCTGGTACAAAGGCACTTCAAAACGCAATTTTATTTTTAATGTA AAAGTAATGCCACCCATTTTGTAAGCACATATAGCATAATACTTCCAATG AACAAAACAACAAAAAACGTGATCTATGAGTAAAGACCACACATATATTT ACAGAAGGAAACCATTACTCTAGATTTCAAAGAGTTATCTTTTGACTGGC TTTACAAGATGACATTATTTGGAGATGACTATAAGATGGGAAAAAGAGGC AGAAATATCAAAGTTCCATAGTTGAAAAAAAATTACATGCACAAAGACAA ATACACAGATGTAAAAACATACACAGACACAGACATATATATGTGTGTGA CATTATCAGGAAGCAATACTAACACTTTCATGTTTCTGCAGTGTATTTGT TTCCTGTTTCTACCTAACAAATTATCACAAATTTAGTGGCTTAAACATTA TACAATTATGTTAAAGTTTTGCAAGTCAGAAGTCTGATGGATGTCACTAT GCTACAATCAAAAAGTGTCAGCAGGACTGAGTTCTTCCTGGACACTATAG TGGAGGCCCTATTTCTGTGTTTTTTTTTTTGCAGTTTCTAGAGTACCCCA CATTCCTTGCCATGTGACCCCATTTCTATAACTTCAAAGTCAGCAGGGTT GCGATGGGTCTTTTTCTCAGTCTTGCATTTATCTGGTTCTCTGTCTTCTG CCTCCCATTTCTACTTATAAGAATTACTGTGATTATGTCTGGGTCACCTG GATAATCCAGAATAGTCTCCCCATTAAGGAGGCTATCATATAGTATTTTT TAATTAGCAACCTTAATTCCATCTCCAAGTTTACTAAGTAACCTAGCATA TTCACATTTTCAAGCATTAAAATGTTGACATTTGGGGGGCCACTATTCTG CTTACATATTCATGGTTAGGGCTTTCTGTGCAAAAAAAAAAAAAAAAATG ATGGGTTATAAAGATTCTGAATGTTTTTCCACAGGCCCATTTGCTTTTTA CATCCTACTGGTGTTTAACCTGGAGTCTTTTGCTATTTTACGAAGAGTAT TGAAACATGTCTCTCTGGAGTCAAATATTTCATTTCAGGTAGGCACTTGC CCATATATATATATATATATTTCCAAGTAAGATGTTTATATTAGGGATGT AAGATTTTTCTTCCTCTCTCATGAGGGCTACTGTTGGC	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	240	0.0042	-1937	c.237 others(19): Show c.237-60882_237-58946del	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
DHRSX_chrX_2214506_2505976	2280359	AAGAGAGA others(1930): Show AAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGG AGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGAGGGAGAGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	50	0.0200	-1937	c.388 others(18): Show c.388+9206_388+11142del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2280406	GGGAGAGA others(1930): Show GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAA GGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAA CGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGG AAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAG AGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGA GGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGG AAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAG AGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAA AGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGA GAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATG GAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAA ATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAG AGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC GAGAGAGGGAGAGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGG GAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAAT GGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGG AGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAG AGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGA GAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATG GAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0030 a0004c0004t0005g0030	1	50	0.0200	-1937	c.388 others(18): Show c.388+9159_388+11095del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
RTN4IP1_chr6_106565771_106634498	106599365	CCTGTGTC others(1930): Show CCTGTGTCCCTAAGCCTCCCAATTAAAACCTCCTCAACTCCCTTAAAAAG TAACTACTAACTGGACCTTTAGTGTAACCCTTTTTGCTTTTTTTTTTTTT TAAGAAGTTTTACTAAGTAGACACCACCCTTAAACACCACTGCTTAGTTT CACTTGTTCTTGAATGTCATTAAATGGAACGATATAGGATGTACTTTTGC ATCTGATTTCTTTTACTCAACACTCGGTTGTGGTATTCATCCACTTCACT GTGTGCAATTATAGTTTTTTCATGACTGCATAATATTCCAATGTAAGAAT ATACCACAATTTACTTACTCATTTTACTGTTGATGGACATTTGGGTTTTT CTAGTTGGGGAATTTTAACAGGAATAGCCCTGCTCTGAAATTCTGGTACA TATCTTTTGGTAAACATACTTGTATATCTATCTATAGGTTATAATCCTAA AATAGGAATTCTTGTGCTGTCCTTTTTTTTTTTTTTAGAAATTTTACAAT TTATATTGACATTTAGTAGATGCCAAATGGTTTTCTTAAGTGGCTGTATC AATTTATACTCTAACCAACTGTGTATGATATTTCTCTTTTCTTTTTGCCT CTCTCCCTCTTTTCCTTTCTTCTATTTATTTATGTATTCAACTCATATTT ACTGAGCCTCTGGATTGGATTCTGATTATCAAATGATGAGTTAAAAGAAG TTAAAGTGTGCATCCCAGGAATCCTCGCCTCCTTCACCTAGTTCAGTCAG CAGACAGACAGGAAGCCTCCAGCACCATCTGGGTTCTCAAAAAGTCTAAG CTGGGTCTGGGGTGGTCTATAACACCCAAACCTCCCTCCTGGAAAGTAAT GTGGCAGAGCCTCTGAGGCTACTCGCTGGCCCCTACTGGGGAAAAGAATC TCTCCCCTCATCCTGAGAGAGTCTTAATCAAGCTCCCTCTTCTAGGAGCC AGTCAGTTACACATCTGACCACAACAGGAGCAGTCACTGGGCCCCATCAT GTTTCTGGAGGCTTGGGGAACTTTTGGTTTGTTTTGTTTTATTTGAGGTA AAATTCATATATATCACCATTTTCACAATTTTAAAGTATTTAAAGTATAC AGTAGTCTCTAGTACACTCACAATGTTGTGCAACCATCACCACTAATTCC AGAATATTTTAAGTGCCCCAAGAATAAGCCTCACACTCATTACGTAGTCA TTCCCCACTCCCTTCTCCATCTACCCCCAGCCCCTGACAACCACTAATCT GCTTTCTGTCTCTGTGGATTTGCCTATTCTAAACATACGATATAAATGGA ATCATACAATATGTAGGACCTTTTGTTTCTGGATTTTTCTCACTTAGCAT GTTTTGAAGATTCATCCATGCTGTATCATCATCAATATTTTATTCCTTTT TATGGCTGATATATAATATAGATATATAATATTCCATTATATGTCTATAC CACATTTTGTTTATCCATTCATCAACTGATAGTTATTTCCACTTTTTTTC ACTATTATGAATAATACTGCTATGAATATTCATGAATAAGATTAGGCTTA AATATATGTTTTCATTTCTCTTGGGTATATACCTAAGAATGGAATTGCTG GGTCATATGGTAATTCTATGTTTAACATTTTGAGGACCCAAGAAACTCTC CCACAATGTCTGCACCATTTTAACTTCCCACCAGCAATGTATGAGTGTTC TAATTTATTTACATCTTTGCTAACATTTTTTATTTTCTGTGTTTGCTTTT TATTGTAAGACACAGTATCTCACTGTGGTTTGGATTTGCATTTCTCTAAT AAATAAAGATATTGACCATCCTTACATGGACTTACTGGCCACTTGTATAT ATTCTTCGGAGAAATGTCAATTCAAGTTCTTTGCTAATTAAATACTGTGC TGTCTTTTTGTTGTTGAGTTATAAGAGTTCTTTATATA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0206 a0001c0003t0004g0206	1	396	0.0025	-1937	c.669 others(17): Show c.669+1572_669+3508del	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	5/8			chr6	TogoVar
CXCL9_chr4_75996275_76012509	76010573	AGACCGGG others(1929): Show AGACCGGGTTTCACCACGTTGCCCAGGCCGGTCTCGAACTCCTGACCTCA AGTGATCTGCCCGCCCTCCCAAAGTGCTGCAATTGCAGGCGTGAGCCACT GCACCCGGCCCTTCTCTCAGTTTTCAAAGGGGACAATGCTCCTTCCCATG GCACTGTTTTTGCTCATGCCATTCTTCTGCCTGGAGCGACTGTGCATGCT CCTCATTCCTGCCCTCCTGCATAGTAGTTACTCACCATAGTTACCCAGGC CAGCATCATTTCCCTGGGAAGACTTTCCTGAACCCCAGAGGGGCTCTCAC CGCACACTTGCAGAGGCCTTGCTGAGCCCGTGTCCGCAGCAACGCTACGT TTCCCTGCAACCCTATGGTTAACATTTCCTTCCACCACTAGGCAAGGAAG GCCTGCGACGCTCCCCGTCTGAGCATGGTGCTAAACACAGTGCCTAGCAC CCAGTAAGCGCACACGCATGAGGGAAGGAGCTGGGAGCTGGCTCGGCAGG TCTGGAAGTTGGATAGGGTCTGTAAAGGGCTGCCTGGCTCCAGGGGCCTC ACACGCAGCGACCTCAGCCGGGCCCAAGGTGCGTGTACTGCGCATGCCCA GCCAACTGGTCTTCCAGAACCTTCTTCAGTGAGGAGGTTATACCCGGAGG TCTCGACGCTCGCTCGTGCTGCTCGTGTTGCCGCTGGGTACGTTTGCTGC CAGTGCTGATCCAGCCGGAGGCGAAGAGAAGCACTTTGGGGGCAAAAGGT AGGGGTTGTGCCTTCAGGATCTCTCCTCTCTGTCCCCTGAGCGGCCCGCA GCCTCCCCAGCCGAGATGGCCGTGCTTTTGGGGATGGGTGGGAAGGTTCT CAGCGGCGGTGGCCATGAGCGAAGAGGCCCGTTTTGCAGGTTTCACACGA GGCTTGGGTGAGGCCAGCAGGGAACGACGGCCCCAGAAGGGCCAGGGCAC TGGGCTTAGGGGTAACCCTGGGCCGTGGGCTTCAGTGACTGGGAAAGAGG CCCTTCGGATAAGAGAAAGGAGGTGTTGGGGTCAGTTGGGAGTCACTGAG GCCAGATCTTATTTGTTACCCAAAAAGGGGCTAATTTTCTGAGATAGCAA GCGGAATGGGAGGGCTTCTCTCGCCTGACCCTACTTCGTGGTGAAACTGT TCTGCCATGGTAGGGTAGGGCCCCGCCCCTCTGAGCAGGCTGGGGCCGCT GCGCCCAGCTCAGGCCTGTCCAGACACTAGTTTCCTGGGCTTCGTTTAGG AACTTGTCATGCAAAGTCTGAGAGCAACCACATTCTCTCAGGAAGCAGGC AGCGGGAAGGAGAAAATCCCATTGATCGTTGCATTTATGGCTAGACAAGG CTTTTAGGAGAAACAGAAACCTGATGAGAGGATGTTGCAGGCGTTTCTCA CAGCCCTGGGAATGGAGCCAAAGATGATCTAGAGTTGAAATCAACAGTTA CCAATTCCTTTTTGGACAAGAATTTTAACTTCCTGTGCCTTGAAAAATTC CAGTTCTGTGTCCGTAGGGGATCCAAATGCTAATGTAACCCCAAAGAACT TTACAAAGCGGAATTCTTAGTTTTCACAAGTGTGGCCCAGCCTCCCTCTT GAATCTTTTTGGTTGTGGAATCGAGGTGTTCTGTTTAATTATCCAGTGTG ACTGACTCTGTGGCAGGGACGGTAAGAGCCTTCCCTTTTTACTTGTGAGA GGAGAAGTTTCTCTCATAAAGAAACCTCCAGGCCTGTTTGAATTTCTCAC AGTGTGGATTTCCCCTCCTCTCGGCAGCTGTTGTTAGTATTAAACTGACT AGAAAGGGGTTTATTTCTTGAAAGTCTTAGAAGCCCCAAGAGAATATTCT GATTTTTCTTTTTCCCTCTCCTCTCCCCACGCAGGGAGTCATTCCTTCCT TCCTAAATACAACATGGTGAGTTACATGCAGGCAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	436	0.0023	-1936	c.-50 others(11): Show c.-5060_-3125del	CXCL9	ENSG00000138755.6	transcript	ENST00000264888.6	protein_coding		3065		chr4	TogoVar
EMC3_chr3_9957682_9991841	9980228	GGTCTCGA others(1929): Show GGTCTCGAATTCCTGACATCAGATGATCCGCCTGCCTCAGCCTCTCAAAG TGCTGGGATTACAGGCATGAAAAACCATGCCCAGCCAGGTCCCACTGTAT TTTGATCACTGTCTTAAGAGCAAAAGGAAACTAATGAAGGATTTTTTTTT TTTTTTGAGACAGGGTCTTACTCTGTTGTCCAGGCTGGAGTGCAGTGGTA CAATCTTGGCTCATGGCAACCTTGACCTCTGGAGCTCAAGTGATCCTCCC ATCTTAGTCTCCCGAGTAGCTAGGACTACAGGCACACACCATGACACCTG GCAAACTTTTGTGTTTTGTTTTTTTTGTTTTTTTTTTTTTTGTAGAGACA GGGTCTCACTATGCTGCCCAGGCTGGTCTCTAACTCCTGGACTCTAGTGA TCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC ACACCCAGCCAAGTGGAGAATTTTAGGCTGAGTTCTTCACATATATGATC TTATATGACTGTACCTGGCACATCCTAAGCACTAGATTAATAGTATCTGT TATTTTTTCCTTTGCATATTTTATTACTTGAACAGAAACTCTGAGAGCAG GGTCGTGACCTTGTCTTACACTGTACCCCACAGCATGCAGCAGAGTGCAA GGCACATGATAGGCCATCAAAAGGCCATTGTTCACAGCCAGGCGTGGTGG CTCTCGCCTGTAATCTCAATACTTTGGGAGGCTGAGGTGGGAGGATTGCT TGAGCCCTGGAGCCCTGGAGTTCAAGAACAGCCTAGTCAACATAATGAGA CCACTGTCTCCACAAAAAAATTTAAACATTAGCCAGGTGCAGTGGCGTGT GCCTGTAGTCCCAGCTACTCGGGAGGCTGTGGGAGGATCACTTGAGCCCG GGAGATCGAGGCTGAAGTGAGCCATGATCGCACCACTGCGATCGCAGCCT CAATCACTGCAGCCTCAACCTCTTTAGTCCAGCCTGGGTGACAAAGCAAG ACCCTGTCCCCAGAAAAACAAACGAAAAAACACTTGTCCAGTCTACGATA ACTCAAGACTTTCCCAGGCAGTGTAATCAAGAGAAATTCATCTAAATCTC CTACAATTACACTGCTGAACAATTTTGTAAAAATGAAGTTGAGTATTGTG ACCCTGAGGTATTTCAAGACCTAAATAAGCAATCTTAAATTATCCTGTAT TTTCTAACACTCACTTTCTTAAGCTGAGATCCATAGCTGTGTTCTCTGAA GTTTGCAAATTCTAAAAGAAATTTTTAATTTTGTATTTTTATTTTCATGA ATATCTAAAAATAAGTCTCTGTACTGTTATAAAGCTTTGTAATTTGCAAC TGAAGGACATCTTTTATTTATTTATTTATTTATTTTTTGCAGAGACAGGG TCTTACCATGCTGCCAAGGTTGGTCTCAAATTCCTGGGCTCAAGGGATCC TCCCATCTCAGCCCCCCAAAGTGCTGGGATTATAGGTGTGAGCCATTGCA CCAGGCCTGAAAGATATTTTCTTGGAATAAAACTTTAAAGTCAGTACTTC TCAAACCAGAGTTCCAAATTCTTAAGAATCAGTGTTTCTTCCTTTCCAAA ATGTCAGTAGTATATTTGTCAAGTCTGAGAACCATTTTTTACACATAATC TATCCCCAAACCTAGTCTAATATATTTCATTCATGTATTTTACAGCTTTG GTTTAATACCTGTTAAAAAAAATTTTTTTTTTTTTTGAGACATTGTCTCA TCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTCGGCTCACT GAAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCCGCAGA GTAGCTGGGACTACAGGCGTGCACCACCACCCCAGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCGCCATGCTGGCCAGCCTT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0300 a0001c0001t0004g0300	1	322	0.0031	-1936	c.155 others(17): Show c.155+4343_156-2783del	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
ANO1_chr11_70073317_70194530	70136446	CCTCGCCT others(1928): Show CCTCGCCTCACCCTGGCCTCAGTCCTGATTTAAATGAACATCGTCCTTTG GCCGATTTCATGTTTGGGGCTTCTGCCTGGAGTTTGTTAGGGGAAGATGG GAGTTCCTCTGCTGAGGTTCGAAGGCTCAGCCAGGGCCTGCAAGCCTCTG TGAGCAAGTGAGGGCCCAGGGAGAGTCAGGAGAGGCCTTTCCTGGTGAGG TCAGGTGCCTGTCGTCGGCGTCTGCACTTGCCTGGAAGCCGCCCTCAGAC ACGCTCAGCTCCACCACACGAGGGTGTGGGCAGAGCAGTGTGAGGGACAG GTCTTGCTTTCCCGGGATTCCAGTCACAGGTGGGGACAGACACGCACAGA AATCAGCATAGCCTCGAGATAAATGCAGTTGTTTCTCTTCGTGGACAAAG GCGTTCGATTTTCCAGAGGAGGCCAAGAATGGGAGCCGTGGGTCCGTAGC TTGGTGTAGGGCGTGAGTTCCAGTGGTGAGCAGTGAGACACGCTGAGCTG GGCTGGCCAGGGAGGGGGTGAGCGCCCCGTGCTGGGAAGCATTCAAGCTG AGGTTGGAGGACTTCTTGCTGGGGCAACTGCAGAGCATTGGGAGGTGATG TCTATGTGTGATCCAAGGCCACGTGGCTTATTGGGAAGATTCCCAGGCCT ACAACCCAGCTCTGGTTTTTAATTTGGGGATCAAAATGTATCGTAAATTT AGAATTATAAATGTAGGGTCAGCAGCAGTCTGTCACCGCTGAAGCACACG TGCCAGAGCTCCCGTTGTTTATCACACTGTATCCGAACAGCGGAGAACCT GTCCCCATTTCACAGAGGAGGAAAGTGAGGCTCCATTGGCACAGCCGGGA ACTGAAGCCACATCTCTCTGAGCCTGTCCTCTCTCCCCTGCCTGCCCCTG CCTGCCCCTGCCTGCCCCTGCCTGCCTCCCTGGACGCTGCGTCCATCTGG AACTATCTCCACAAACCCCCCACCCCCCCACCCGCCATCACCGCTGTCTG CTGCTCCTTCCCTCCCTCGCCTTCCTAGAGACCTCAGCACCGGTCAGATC CCTCCCTGTCTCCCTCTCTCTGATCATGACCCAGGAGGCTGTGACTCCCC AGCCTCCTGGTGCCCCAGCTCCAGGCTGGGAAGATCCACCCAGCGGGGCC CGGCCTGCCCTGGCAGCCCACTTGACGGTCACTGGATTACTCAGGCTGAC TTGGCTGCGTAGTAGGACGGTTAGATACAGTCAAGGGGTTCACAGTGCCA GCTCCGGGGCCCGGCTCAGGTTCAAATCCCAGCTCTGTCACCTGCCAGCC CTGTGACCTGAGAACTTGCTTCTACTCTCTGGGTCCCAGGTTCGCATCTG TAGAACGGAGACACAGTCCCACCCCACAGGGTTGCTGGGAACATGGAAGG AGTCACTGCATGCAAAGTTCTTAGGGCCATGCCTGGCTTGTGCCTGGTGC CAGTTGCTACGTTGCACTGGCTGTTAAAAGTGAGCTGTTGCTTTTTGAAA TTTTGAAAACGTAGCCTTGGGTCCTAGGAGATTGAGCTTAAACCTAACCT CTCACCTTGTGCTTGGTGGCCTCTGTCCATTCAGTGACTTCTTCTCCTTC AGAAAAGAATAACAGCTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGAAGCTCAAG ACCAGTCAGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAGA TTAGCTGGCCGTAGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGAGTCT GAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAA GATCACGCCACTGCACTCCAGCCTGGGCAAAAAGAGTGAAATTCCATCTC AGAAAAAAAAAAAAAAAAAAAGGCTGGGCGCAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00639.hp1 others(28): Show HG00438.hp1 HG00558.hp1 HG00639.hp1 HG01099.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01496.hp2 HG01515.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02738.hp1 HG03490.hp2 HG03688.hp1 HG03942.hp1 HG04184.hp1 NA18946.hp2 NA18952.hp1 NA18990.hp2 NA19056.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0015 a0001c0004t0001 a0003c0007t0001	a0001c0001t0001g0089 a0001c0002t0001g0041 a0001c0002t0001g0056 others(28): Show a0001c0001t0001g0089 a0001c0002t0001g0041 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0107 a0001c0002t0001g0133 a0001c0002t0001g0151 a0001c0002t0001g0298 a0001c0002t0002g0184 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0216 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0237 a0001c0002t0002g0240 a0001c0002t0002g0244 a0001c0002t0006g0064 a0001c0002t0015g0233 a0001c0004t0001g0007 a0001c0004t0001g0011 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0017 a0001c0004t0001g0020 a0001c0004t0001g0022 a0003c0007t0001g0182	31	302	0.1027	-1935	c.125 others(19): Show c.1258+4371_1258+6305del	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(1928): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG03516.hp1 HG02280.hp1 HG02630.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0037 a0002c0002t0001 a0002c0002t0037	a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0037g0317 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0037g0317	3	366	0.0082	-1935	c.462 others(15): Show c.462+36_462+1970del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1928): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19091.hp1 NA18960.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0066 a0001c0001t0008 a0001c0001t0066	a0001c0001t0008g0246 a0001c0001t0066g0091 a0001c0001t0008g0246 a0001c0001t0066g0091	2	366	0.0055	-1935	c.462 others(16): Show c.462+299_462+2233del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIP1_chr7_75528298_75743941	75565843	TGCCTCAG others(1927): Show TGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGCTAATTTTTGTATTTA CAGTAGAGACAGGGTTTCATCATGTTAGCCAGGCTGCTCTCAAACTCCTG ACCTCAAGCGATCCACTTGCTTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACTGCACCCAGCCTAAGTAAAGATCTTTTGTTTTTGTTTTTG TTTTGAGATGGAATCTCATTCTGACGCCCAGGCCTGAGTGCAGTGATGTG ATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCTGC TAATTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTG AACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCATGAGCCACTGCACCCGGCTGGTGTTAGCAACTTTTATTGA GGCGGCAGTGCACAGCCAGCAGCGGAGGTCCTGTTCCTTGCAGCGCAGGG CTACTCCATACGCAGTGAGCCCAGAATAGCAGCTGTTACATTTATACCCA CTTTTAATTATATGTAAATTAAGGGGCAGATTATGCAGAAATTTCTAGAA AAAAAGTGGTAAATTCCAGATTGTCAGGTTATTGCCATGGAAAGGGGCGC TAACTTCCGGATGTTGCCATAGCAATGGTAAACTGTCACTGCACACTGGT AGGTGTGTCTTATGCAGAGGTGCTTCCGCCCTTTCCCTGTTTTACTTGTC CTTAATTTGGTCCGATGCCCAAGCCCTGCCTCCAGAGTCCAGTCTCCCAT CCCACCTCAGAAGCAGGTCATATTTGTAGGGTATCAACCAAACCTGCTAG TGGATTGGACATGGGGGATGAGGAAAATGGTGACTTCCAGATCTCTGGCC TAAATGGATGATGGCAGTATTTGTTGAGATAGAAAAGAATGGGGAGGGGC TGGGCACAGTGACTCGCGCCGGTAATCCCATCACTTTGGGAGGCAGATCA CTTGAGGTCAGGAGTTCCAGACCAGCCCGGCCAACATGGTGAAATCCTGT CTCTACTAAAAATACAAAAATTAGTCGGGCATGGTGGTGGGCGCCTGTAA TCCTAGCTACTGAAGAGGCTGAGGCAGGAGAATCACTGGAGATGGGGAGG CTGAGGTTGCAGTAAGCCAAGATCACACCACCGCACTCAAGCCTGGGTGA CAGAGCGAGACTCTGTCTCAAAAACAAAAACAAAAACAAACAAACAAAAA CAGAATGGAGAGAGAAAGGTTTTTTTTTGTTTTTTTTTTTTGAGAAAACC TAAAGTACAGTTTGAGATTTAAGTATGCTATACAGATGTCAAATTGGGGA CAAGAGGCTGGCATTCAGAAGTAAGGTCTGGCTAGAGATGCATATTTAGG GGTTATCAGTCTATAAATGCTATAAGACCAGAACTTAGGGAGACAGAAAA GAGAAGAGGATGAAGTCTGGGGCATAAGCAGGCAACTAATGAATGGATGA AATCTCTTTCTTCTATATGCTTCTATGGGATTTATTAGATAACCAATAGT TACCCTAGCTATAGGTAGATTTGCCTCTGTCTGAGCTATTTTCTGTCACT TTATCACCTTAGAATGAAGATAACCTCAGGTCGGGTGCAGTGGCTCACGC CTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAA GAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAA ATACAAAAATTAGCTGGGCATGGTGGTGTGTGCCTGTAGTCTCAGCTACT CGAGAGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCA GTGAGCCGAGATCGTGCCATTGCCATTGCACTCCA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02922.hp1 others(6): Show HG02145.hp2 HG02723.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0014 a0004c0008	a0001c0001t0004 a0001c0001t0023 a0001c0001t0030 others(5): Show a0001c0001t0004 a0001c0001t0023 a0001c0001t0030 a0001c0002t0004 a0001c0003t0016 a0001c0013t0004 a0001c0014t0026 a0004c0008t0019	a0001c0001t0004g0021 a0001c0001t0023g0253 a0001c0001t0030g0234 others(6): Show a0001c0001t0004g0021 a0001c0001t0023g0253 a0001c0001t0030g0234 a0001c0002t0004g0048 a0001c0003t0016g0024 a0001c0003t0016g0137 a0001c0013t0004g0089 a0001c0014t0026g0015 a0004c0008t0019g0101	9	254	0.0354	-1934	c.803 others(16): Show c.803+422_803+2355del	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	9/30			chr7	TogoVar
ARMC2_chr6_108843422_108979476	108930846	TGGCCTCC others(1926): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCC CCACCCCCTTTTTTTTTTTTTTAACTTTTATTTTAGGTTCAGAGGTACAT GTGCAGGTTTGTTACATAGGTAAACTCATGTCACGGGAGTTTGTTGTACA GATTATTTAATCACCCAGGAATTAAGCCCAGTATCCAATAGTCAAAAGAG TTATCTTTTCTGCTCCCCTCCCTCCTCCCACCCTCCACCCTCAAGTAGAC CCCAACATCTGTTGTTTTCTTCTTTGTGTTTATAAGTTCTCATCATTTAG CTCCCACTTATAAGTGAGAACATGTGGTATTTGGTTTTATTTTCCTGCGC TAGTTTGCTGAGCTAATGGCCTCCAGGTCCATCCATGTTCACGCATAAGA CTTGATCTCATTCTTTTTTATAGCTGCATAGTATTCCATGGTGTATAGGT ACCACATTTTCTTTATCCAATCTGTCAATGATGGGCACTTAGGTTGATTC CATGTCTTTGCTATTGTGAGTAGTGCTGCAATGAACATTAGCGTGCATGT ATCTTTATTGTAGAATGATTTATTTTCCTCTGGGTATATACCCAGTAATA GGATTGCTGGGTTAAATGGTAGTTCTGCTTTTAGCTCATTGTGGAATCAC TATACTGCTTTACACAATGATTGAACTAATTTATACTCCTACCAACAGTG TATGAGTGTTCTCTTTTTTCTGCAACCTTGCCAGCATCTGTTATTTTTTG ACTTTTTAATAATAGCCATTCTGACTGGTGTGAGATGGTATCTCATTGTG GCTTTGATTTGTATTTCTCTAATGTATTTGTATTTCTCTATGATACTGAG CTTTTTTTCCATATGCTTATTGGCCACATGTGTGTCTTCTTTTGAAAAGT GTTTGTTCATGTTCTTTGCCCACTTTTTTTTTTTTGAGATGGAGTTTCGT TCTTGTTGCCAAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCATAAC CTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGC TGGGATTACAGGCATGCACCACCATACCCAGCTAATTCTTTGTATTTTTA GTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGAC CTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCG TGAGCCACCGCACCTGGCCCTTTGCCCACTTTTTGGTGGGGTTGTTTTTC TCTTGTAAATTTGTTTAAGTTCCTTATATGTCCTGGATATTAAACCTTTG ACAGATGCATAGTTTGCAAATATTTTCTCCAATTCTGTAGGTTGTCTGTT TACTCTGTTGATAGTTTCTTTTGCTGTGTAGAGCTCTTAAATTTAATTAG ATCCCATTTGTCAATTTTTGCTTTTGTTGCATTTGCTTTTAGTGTCTTTG TCATGAAATCTTTGCCCGTTCCTATGTCCAGGATAGTATTGCCTAGGTTA CCTTCCAGGGTCTTCATAGTTTTGGGTTTTACATTTAGTCTTTAATCCAT CATCCATCTTGAGTTGATTTTTGTATATAGTGAAAGGAAGGGGTCCAGCT TCAGTCTTCTGCATATGGCTAGCCTGTTACCCCGTGATTATTTATTAAAC AGTGAGTCTTTTCTCCATTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGT TGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCGGTC TCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTATAGGTGCCCACCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGATGGGTTTTCACTGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCGCCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG03540.hp2 HG02451.hp1 HG02559.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0003g0132 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0003g0132	3	290	0.0103	-1933	c.149 others(19): Show c.1496+2651_1497-4084del	ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 2609 hits)