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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AMDHD1_chr12_95938331_95973720	95960397	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	404	0.0025	0	c.588 others(5): Show c.588-1G>C		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	4/8						chr12	TogoVar
AMT_chr3_49411778_49427473	49419152	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	358	0.0028	0	c.697 others(5): Show c.697-1G>A		AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	6/8						chr3	TogoVar
AMY2A_chr1_103612427_103630780	103623865	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	312	0.0032	0	c.110 others(6): Show c.1102-1G>C		AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	7/9						chr1	TogoVar
ANKK1_chr11_113382779_113405416	113395358	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02630.hp2 HG03516.hp2 HG03540.hp1 HG02630.hp2 HG03516.hp2 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0019 a0005c0006t0001g0019	3	400	0.0075	0	c.633 others(5): Show c.633-1G>T		ANKK1	ENSG00000170209.5	transcript	ENST00000303941.4	protein_coding	3/7						chr11	TogoVar
ANKMY1_chr2_240474422_240562988	240557353	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00733.hp2 HG01109.hp2 others(24): Show HG00099.hp1 HG00733.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02273.hp2 HG02451.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp1 HG04199.hp2 NA18906.hp1 NA18948.hp2 NA18971.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0006 a0003c0004 a0003c0010 others(2): Show a0001c0006 a0003c0004 a0003c0010 a0003c0036 a0006c0007	a0001c0006t0001 a0003c0004t0001 a0003c0010t0001 others(2): Show a0001c0006t0001 a0003c0004t0001 a0003c0010t0001 a0003c0036t0005 a0006c0007t0001	a0001c0006t0001g0274 a0001c0006t0001g0276 a0003c0004t0001g0253 others(24): Show a0001c0006t0001g0274 a0001c0006t0001g0276 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0273 a0003c0010t0001g0255 a0003c0010t0001g0272 a0003c0010t0001g0275 a0003c0010t0001g0294 a0003c0036t0005g0013 a0006c0007t0001g0262 a0006c0007t0001g0263 a0006c0007t0001g0268 a0006c0007t0001g0269 a0006c0007t0001g0295	27	320	0.0844	0	c.-17 others(5): Show c.-17-1G>T		ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	1/17						chr2	TogoVar
ANKRD30A_chr10_37120598_37237567	37177323	GTCTTATT others(11794): Show GTCTTATTTATTTTTGATGAGGACTAGAACGTAAGTTAGATATTTTTAAG AGAGATACTTTTTGAAATATGCACGAGTGAATTTTTTGTGAAGGTGATTT GTTTTTCCTGCTCAGTCACCGAGTTAATGGCCACGTGAACGTAAAGATGA GCTTGATGTAGAGAGGGTTATGTGAGGTTTTCTATCAAAATGTGTTTGTT TTCTACATGTATCTGCTCTTAAGTCGAATTGTTTGCAAAGGAGGAAATTG TGTTTTTAAAAAAGAATTTAATTAGGAAATTTTGATACTCTTCATTACTA GGATTTATCCATTGAAATTATTTATTGCTATTACTTTTAACAGAGTCTCT GTGAGACTGTTTCACAGAAGGATGTGTGTTTACCCAAGGCTGCGCATCAA AAAGAAATAGATAAAATAAATGGAAAATTAGAAGGTAAGAACCGTTTTTT ATTTAAAAATCATTTGACCAAATATTTCTCTAAATTGATGAGGAAGGATA TCCTCTAGTAGCTGAAGAAAATTACCTCCTAAATGCAAACCATGGAAAAA AAGAGAAGTGCAATGGTCATAAGCTATGTGTCTCATCAGGCATTGGCAAC AGACTATATTGTGAGTGCTGAAGAGGAGCTGAATTACTAGTTTAAATTCA AGATATTCCAAGACGTGAGGAAAATGAGAAAATAAGAAAGAAGAAAGTAG TAATAGAGTAAATGAAGACTGAGAAAGACAGAGCGTACAGAGAGTACATG AAGGAACAAGAAACAGGTTTATGTAATGGAGGATGATAAAATGAAATGAT TGTTTAGGAAAAGATCGGGTATGGTTAGAAATTTGGGAAGAATATAATGT GACCTTCTAGAATCAAAATTTACCAGAGAATTACAGCAAAAATATTCTGA CTCTTAATGTCTTTCTCACTGGTGGGAAGCCATTAGGGATGGAAGCACCT GACCATGGAGAGCTGTGTTCTATTTGCAATAGGTGAGAATAAGCATATCT GCACGGCCACACATGTATATAAATTGTCATATACACTCCGTATAGACCAG AGGTTTTCAAACTTTAGAAAGTCAGCTGAAAACCTTGTTAACAATTCACA CTGAGATTCAGCCGACCTGGGATTCTGCATTTTTAAAAAGTTCTCAGGTG ATGCTGATGCTGGTGGTCCTTGGACGTTGCTCTGGGTAGCAAGAGGAGAG GCCTTTTGTGGGAAAAATGTGGAAGCAGAGCAACTGGATAGAAGGTCAGG ACAGAAAAGGTCAGGAGAAAACATCATGGTCCTCTTAATTTTGAGGATGT TTTTAGTCAGGGGAGAAGAAGAAAGGAGCAATGCAATAGAAATTATAGAT GGAAGGTACTACCACTCCTCAAAGTAAAAGGAAAGAGTGGGAAAAAATAA TTTTAACAGGTGTCGAATGGGAAGAATCAAGAGCACAAGTCTAGTGATTA TTTTTGCTAAAGCAGAGAGATTGTGAGGCAGGAAGCAGGGGACAAGAGAG AAGCCAGCTAGATGATTTTGGATTTTCTATGAAGGAAAATGGAGTGAGCT CACTTCGGAAGCATTTAGAAAAGTTTTACTGCAGAATGTTAGAGTGTGGG TGCTCTGGAGACTACTGGAATCATGAGGATTACTAGAATTGGACTAAACC TCAGTGACTCATTAATTTTCTTTATTACTATGAGGCGTCAAATATATATA TATATATATATATATATATATATATATATATATATATATATAGATGTGTG CATGTATGTATGTTTTTGACGTTCACAATTTGAATAAGATATACTTGAAT GTAAGAACCTTGGCTTTATTTTTAAGGAAGCAAATTGTGTTGGTAAAATT GCCATTTTATAAAACCTCATTAGTAAATAACATGCTACACGAAACCAGAC TAATTTTGAAAACCATAAAACTCTGAATTTATGACTTGAATACCTAAATT GTTGTTATTCGTAGGTATTTTACTGATTTTAACGTAGAAAATGTTATTAA TATTTAAAAGTCTGTTGTAACTAAATTTAAATGAAATACATCAATATTGA AAGCTTATTAAATTTGCTATTCCTGATGAGATTTGTACATCTTCCTGCAT GAGTGGATTAAGAGATATTGAGATGACTAAGCTAGAAATTACAAAAATGT TGGCATACTATTCCTACATTATGGGAATGAATACCCATATTCCAAGTATA TGGGTATGAAAATCAAGGAATATTTATATTTAATATTATGCTCTAAGTAT ATATCCAAGCTGATCAATTCATAACACTTTTTCTGATGAGATGTCAATTC TACATTCAGCTGAACTCTTATCCGAACTGTGTGGCTTCTCAATGACAGGA CATATTAAAGAACATGATGAATGTTTGTAATGCAATGATATAAATTATTA TAATGTGTTGCCTTAAAGACACATGGTGTAGCATTCTACGTTCAGCTTTT GCATTTATTTTCTCAGTGTCATGATTTGCTCCTGTGATTCCAGATCAGTT GTCTCCTTATCAGTCAGCATATACTTATTGGTATTAACACTTTTTGCAAA AATCATATATAAATGGTTGTACAATGTTGTTGTCATTCTACAGCAACTTT TTAATTTTTGTTCAGCGATTAGCTTGTTTTTCATTTATTTTAAGATTTCA GGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTAGGCCAA GGTGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACATGG TGAAACCTCACCTCTACTAGAAATACAAAAAATCAGCCGGGCGTGGTGGT GGGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAAGAGAATGGCGT GAACCCGCGAGGCGGAGCTTGTGGTGAGCCGATATTACATTATTGTAACA TTGAAATATGCAGGTGAATGATATATAAAAAGCCTCTGGAAGTTTACTTC TAGTTTTTGATACTTTCACGTTACGTGTTTTTTCTTTTTTAGAGACAGAG TCTCGCTCTGTCATCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACT GCCACCTCCAGCTCCTGGGTTCAAGTGATTCTGGTACCTCAGTCACCCAA GTAGCTGAGATTACAGGCATGTGCCACCATACCTGGCTGATTTTTGTAAT TTTAGTGGGGACAGTGTTTCTAAAATAGTGATTTTGGCCAGGCTGGTTTG GAACTCCTGGCCTCCAGAGATCCGCCCTCCTCAGCCTTCCAAAGTGCTGG AATTACAGGCATGAGCCACTGCACCTGGCCTGTATTGGTTTGTTGATGGG TACGCTTGGACCTTTTTGTATAAGTGGATCAGGAAATTTTAAGAGGACTA AACTAGAGAACCCTATGAATGTGAAAATACTCGTATTTCACAGAGGTACA AAAATGAATATATTTATTAACTTTTATTCTATAGGTAGATATGCTGCTGA ATTTAGAACATTCTCTGCAATGATAAGTACGTTGTACCTTTGAACTCTCA TCACAACTTTGCAATTCCTAAACTCCAGGACAAATTGAAGGACATAATAG CTACATGTATATATTGACATAAGTGATTCTGACGTGTTTCCTTAACAATA TGCCATAGCATTCTCCCATTAGCTTAGTCATTTATTCTGTTTTGGTGGGG TGTGGCATGACTTGGTCATCTTATTAAATACAACTTCTTTCCTAATACGG CCGCTTTCTCTTACTGATAGTAGGATATTTCTGCTTTAGTTATTGTCACC TTAAATATATTTTCAATGTTGAAATCCTCACAGCATGTTTGATGAAATCT AGTTTTCAAATTTTCTTAGGTATATTTCTGTCACGTTGGCATGATAACAA ATGCAATAACCCAAAAGACCCCAAAAGCTAGTGTAATCCCTTTTGCAATC CAAGCATGAGGATTCATCTTCATGTTGACAGTGCGTGAATGTTCGGTAGG CTTTGTCAAGCTTGCATACAATAAATTATATATGTCCCTTTTCTTTTAGG GTCTCCTGTTAAAGATGGTCTTCTGAAGGTAATAACTTTTATATTTTTAT CTTGAGTATTAACTACATATTTTATGAAGTATACATTGTATATTAATTGT TTTCTTTCCAAACCCATTTAGGCTAACTGCGGAATGAAAGTTTCTATTCC AACTAAAGCCTTAGAATTGATGGACATGCAAACTTTCAAAGCAGGTAAAT TTTGTAATTTTAATTTTACTCTGGAAAGAAGAATATTAAAATATTTGAAA TGCTGTGAGACTTTTCATTCCCAATGTTGTTTTCTATTCATAATTTGATG GGAAATTTCGATACAAATAATGCCAATGTGAGTATTTCTGTTTGAGAAAA TGCCATTTACAAGCATAAGATTTAGAGATTTAGAAAAAAAATTCTGCTTT ACCTCATGTGGTTCTACTTTAATGTCCTGATCGGATAAAGTTTCCAATTT GCAATTTCTGTACGCGCTTGGTTTTAAGGTAGGTGAATTTTGAGACTGTG AAATATTTGCAGTGGTTCGAAGGCTGATTGGAATTCTGATGTTTACTCAG AAGAAAGTTTCACTTGCTGACATGACAGTTGTGAGTGTTACCACTCTGAG AATCTTAAGAAAATCAGTTTTTTTTTTAATAGATGACTGTGTGTGTGTGT GACTTATAATTTTAAAAAATCAGTCAAGCAATCATTACTTGATGACTCTT TGCTAGGCACCGCATTTTAGAAGAGTGACCCCAAAGCATTTGGCCTTGGT GTGTTTTAATGCTACTGTAATGAATTGCCTAGAGATACAAAAGAGCCTGA AGTAGTTTTTGTCATTCCCGTGAACGTTTACAACATTTTACAACAGGCCT TGCACGGTGGCACATGCCTGGAATCCTAGCAGTTTGGGAGACAAAGGCGG GCAGATAAGTTAAGGTCAGGAGTCCCAGACCAGCCTGGTCAAACTAGTGA AACCCCATCTCTACTAAACATAACAAAAAATAGCCGGTTGTGGTGGTGGG TGCCTGTCATCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCTTGAA CCTAGGACGCAGAAGTTGCATGAGCCGAGCTTGTGCCACTTTAGCCTGAG TGACAGAGTGAGACTCCATCTGAAAAGGTAAAGAAATAAAAACACAAAAC TCACAACATATGTGTGGTTATAGACTATGTGTAGAATTTGTTTTCATGTC TTATAGGCTGTGTGTAGAATTTGTTTTCATGTCTTAAATTTTCTTTTTTT TTGTTTGTATTTTTTTCTTCAGTTTTTTTGTTTGGTTTTGTTTTTGTTTT TTTGAGATCACCCAGGCTGGAGTGCCATGGCGCCATCTCGGCTCACGCAA GCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAG CTGAGACTCCAGGTGCCTGCCACCACGCCCGGCTAATGTTTTGTATCTTT AGTAGAGACAGGGTTTCAGTGTGTTAGCCAGGATGGTCTGATCCGGATCT CCTGACCTTGTGGTCCGCCCGTCTCGGCCTCCCAAAGTACTGGAATTACA GGCATGAGGCACCGTGCCCGGCCGATGTCTGAAATTTTCAATAAATAGTT GTACACTGTACATATTGTCCTGGAACTTCCTTGTTTGCTTATCGAATATT TTAGATGGACCCAATACAATTAGCTCTGCTTTGATTTAAGGCCTCATAGT TTGCCATGTTAACTCTAAAACACATTTAATTAGACTGTGTTTCCTAGCCA CTAAAAGTCGACATTAAATGGCAGCTGATATCACAGAGCTTTTACTGAAG TGGGAGTATTTACTGCTTCATCCACTGTTAGAAATTAAAATGAAAATATT TAAAATACACGAATTGGAAAAGTCCTACTTTCCAATACGCATTACAACTG TTACTCATTAACCATGAAAATTATGACATTGTGACATGTCATGAGTCTGA AAAATTTTAGTTTACACTTTTTAGAAAATATCAGTAAATAGGAGAAATAG GAAAAACATTATGTGAACTATTAGGCCCCCGGTGTATTTGTTGAACTTCA GAGATGCTCAGATCAGAAGCTAGAACAAGAATTTTCAAAAATGCATAAGG TTTTAAAGTGCCAAATAACAAATGGGCTCTTGTATATGAAATAATGTCTG AAGTTGCACCTCTGAGTCTTTTCTCTCTTTTTCTTTTTTAAAAAGATATA AATCAAACAAAATCAAAATTTTGTTTATAATGAAAAGAGTTGGTTACAGA TTCATTCTGTGTCTCATGGCACTGTGCTCTCTTTTTCCCTAGAGAGGATC TAGACTTTTCATCTGTTTACATGGGAAGAAGTAGTTCAGTTTATGGTCTC ATTTCTCATATAAACTGTGAAAATTCTCCACGGCTTCACATGCTAGTTCA GAAGATATTGATGCCTTGAGAATAAAGCATCTGGTTGTAACTCCAGCAGT TTTATATTTAAAGTATACCTAATATAATTGTCAACCACATTACTTTAGAA AACATAAACAAAAGATAGTTACACTTATTTATTTAAAAAATGGTGACCGG GTGCGGTGGCTCACGTCTGTAACGCCAGCACGTTGGGAGGCCGTGACTGG CAGATCACGAGGTTAGGAGATCGAGACCATCCTGACTAACACGGTGAAAC CCTGTCTCTACTAAAAATACAAAAAATTAGCCGGACGTGGTGGCACGCAT TTCTAATAATTTCTCAGGCGATGCTGCTGCTGGTGGTCCTTGGAGCTTGG TCTGAGTAGCAAAAGGAGAGGCCTTTCATGGGAAAATAGTGGAAGAAGAG CAGTTGGATAGAAGGTCAAGACATAACAGGGTCAAGAGAATGCATTATAT TGCTTTTATTTCTGGGTATGCTTTTAGCCAGAGAAGAAGAAGAAAAAGAT AAACAGAAATTATAGATTTAAGATACTATCACTAAACAAAGAGAAAGGAA ATGTTGAACAAATAAATTTGAAACAGTGTTGTATGGGAAGAATTCTACAG AGTTAGAGGTTTTTTTTTAATTTCTTTTTTTTTTTTTTTTTTTTTAGTAG AAGCATTCAAGTCAGGTAACGGGACAAACAAGAAAGAATGTAGGCAGGTA ATTCTGGAGACTCTGAGAAGAACAGTTGAGTGAACTCACTTCAGATGCAT GTAGATTATTTGCACTCCAGAATGTAGACTGTGGGCACTCCAGAGACTAC CAGAATTGGGGGAACCACAGTGACTCATTAGGTTTCTCTGTTACAATCAG GCATGAGAAATATATATATTTTGTTGATGTTAGCTATTGAAATGAGATAT ATTGGAAACTGAGAACATTGGCTTTATGTTTAAGGAAGTGTGTTGTTTTG GTAAAATTGCCATTCCACAAAAATTTATTATAGACTAATGATACACCAAA CCAGGCGAATTGTAGGATCTGAAAAAATACTGAATTTATACTTGAATAAT AAGATTGCTTTTTAAGATAAATATTGTGGTGACTTAACAATGTAAAAAAA GTTACTTATGTTTATTTAATCTATTGCAATAAATTTTTATATAAATATGT CAATATTGAAAGCTTAGTATAGATTATTTCCATGATGAGTTTTACACATC TTGCATGAGTGGATCGAGAAGCATTCAGATGGATAAAGTAGAGGATACAG AATCATAGGCATATGATTACACCCTATGGTTATGGAAAAAAACGAATATT CATATTTAGTATTATGACCTAAGTGTATATCCAAGCTGATCAATTCATAA CACTTCAGTGATGAGATGTCAGTTGTACATTCGGCTGAACTCTCATCATA ACTATGTACCTTTCCAAAGATAGGCTATATTAAAGAACAGGATGAATGGA ATAATATAAGTGATTCTAATGTGTTTCATTAAGTACGTGGCGTAGCATTC CATGTTCAGCTTTGACATTTATTTTCTCATATCAACCCTTTTTACACGTG AAACACAATCTCGCTCTTGAAGTCTTAACTGCATGATCTGTGAAACCTGT ATTTATATTTTCTTCAGTGTATTCTTGTCGTGTGTGTGTCCTAAACAAAC CAAAAGAAAACTTTCCAAATCTAAAGTATTCATTCTCCAATTGGAGCAAG AGGAGTCAGTTAGATACTATCACGGCATTCATTTGTGGCTGGCTTGTCAT ATTTACTTATGATTGATAATAAATCTATTTTGCTTTTTAGAGCCTCCCGA GAAGCCATCTGCCTTCGAGGTATTTAGTTTCATGATTTCATTTTGAATGA CTTATTAACTATGTATTTTGTGAAGTATACATTCTTTATTAATCATTTTG CTTCCAACCCCATTTAGCCTGCCATTGAAATGCAAAAGTCTGTTCCAAAT AAAGCCTTGGAATTGAAGAATGAACAAACATTGAGAGCAGGTAAATTTTT TAATGGAACTATGCAAAGACCAATATTTCAATATTGGACATTTTGATGGT CCTTCTATCCCCAATGCTTTATTTTTTTCAACTTTGATGAAAAGATTTGA TCTAGGTAATGCCAATACTGGTATTGATGTTTGAAAAGCTGGTATTACAA GCACAGTAATTTTCAATATCTTTTTTTAAAAATGTAGGCTTAATCTCAGA TGTTTCTACTTTTGTATCCTGAAACTGTAATGTTTTCTATTTTGAACTTC TGTATTTCTTAAGGATTCAAGAAGGTGAATGTTGAAACTCCAATTTCTTT TTTTAGCTCTTCGAAGCTTGATTCAAATTCCACGGTTTACTTCGGGGATC CCATCTCTTACTGATATAACCCTTGTGTTTTAACATGAATTACCTTGTTT CCGGTGTTGTCACTTTGAGAATCCTAAGAAAATCAGTAACTCGGACTAGT GAACTCTGTGTGTTTATGTGTGTGTGTGTCTGCGTGTGTGCCTGCGTGTG CCTGTGTGTGTGTGGTACCTTTACCTTGTAAAGATGAGGAAAGGAATTAT TCATTTCTTTGTGAATATTTGATAAACACACTTTTTCATGAAACTGTGAT TCTGAAGCATTTGGCTTTAGAGTCCTTTTACGCTAGTACCATTTATTGCC TGGAAGTAACCAATATTCTAAACTGTTTTTAGAAACTCTTCTTATGCATG TTTAAACATTTTACAACATGTGTGCGTGGTCATATTTAATATGTACGATT TTTTTCAACTTCTAATGTGTACATGGTTGTAGAGTGTAGTGTTCGGCAAC ATTCTTTTTTGATCAGCATTATAATTTTTAGAGACATCCGTAAAGGACAC AATTAATTGTGTTTTTAAATATTAGGTTATTTATAAAATTCCATTGTATG ACAGTACCATAGTTAATTGCACAATTTTTATGCCGAGAAGTAATAAATAA AACTGAAAACATGCAAATTTGGGAGTCTTTAAAAAGTTAGTTTTATCTGC TGATTTCTTAGTCATTAGAAATTAAAAGTAACATATTTAAAGTATTTCCT TGTGCAATCATACACTCCACTAAGAATTTGAACTGTGCCCCACAGCTTCT TAGAGCTATGGTGTGGCAACACGTTAGATCTCTGAAACGATCCAGGGTAC GCTTCTAAAAATGAGTGAACATGGTGACTTACCAAAGTGTGATTTGAGTT TCCTGGACCCTCTGCATGAAATGTGAACATGAGCTATGCTGAGATCACAA GTTAAATTTACTTTTGAAACCAGGTATACAGTTGATGGATGTCAAATGAT AAACGTATGCATAGTGATGAAACGGTCTTTTAAGTTTTAGGTGTGCATGT TTGCTTTTTTCCTGAACCTGATTCAAATAGTTGTAATTTGTACTTTGTGC TGATAAAGAAAACTGGACGTTATTTTTGGTATAAATTCTTTTTCTGTCTT ATGTCCCTGAGAACTCGTCAAGTCTTGAGTGGGCCTTGATTTTATCCTAT TACACGTGGGAACATTAGATTACTTAAGGCAATTATATTTTCCTATACAT TTCTGATGTTTCTCCAAGGTGTCACAAGCTGACTCTGAAGATATTGTTGC ATTAGGGAAGAAGTGTGTCATTGTAAATGAAGCAGTTCTTAATTTATACG CAATAAAAGTTTTTTAAGCTTATCTTCCTAAAGCTTATACACACGCAAAA CACACCCAATACACTGTCATAGCATACTGAAATGTAAAAGGGTTGGACAT ATAGTTGACTGACATCAAAAAGTTAATATTTCTAAAACATCTTATTCATT GATAAATCATCTTTTTTGAAGAACTGTGTAAGAGAGATTGCTGAGTCAAT CAATGTAAGTAATACTACCAAATAAAAAGTAACAAAGAAATGAGAGATGA TAGGTAATTCCAGTTTTCTGAATGAACAGGAAACCTAGGGCATACTGCGC TTCACAGGAGAATAGGATATGACTGCTTTGTGAAGAGATAATTCATACAA GTTAGTTAAATTTCTATTTTTCTGCATTCTAATGAAATAATGTTAATTTT CAGACTTTTTAGATTTCAGTTCTATTGGAATGACTATAGAAGTAGTCATT GCAATCAACAAAAAGAATATACGGGCTACAGAGGAAAAACCTCAGATTCG TGAATGAAAGTAGATTTGTATATGTTTTTAAAATTTTTAGTAGAGAACTG TGCTCATGAATGTATCTGTGATTAACCTTTTATAGATGAGATACTCCCAT CAGAATCCAAACAAAAGGACTATGAAGAAAGTTCTTGGGATTCTGAGGTA CTATGTGTTATTGATTTTTTAAATATTAGTATTGCATGATATGAAAACAT AAAATCAGATGCTTAGACTTTATGTTCTCACCTCTGCATGTGTCACCCCC AAATTATTTTTGATATTTTTCAGTATATGCTTAACGGAGAATCTGTGTGC TAAGTAGATTCCTGCTTCACAGTGAAATTCTGGGAATTTGTACGATTAAT TTAAGAAGCCAAAGTGGTATAGTGTAAAAACTAAGGCTTAGAATTCACTA GAAATTCACATGGGATCTGGAGTACTTTTGTCTAAAAGGAAAAGAATTAC ACTGAGTCCAGCTATGGGCAAATATATGATTCTGTCTTATATCTAGAGGT AGAAAAGTTCTAATTGTATTCATAGAGAGACACTTTAAACTGCAATATTG TAAAAGTTGGGACCTGAAAATTTAATGCCTGGGACTTGAACGTATTGACA TATCTTTATTGTTCAGTATAGATCTGAAGGAACATTTCAGCAGAAAGGAA AGCATGAGGAATAGGAAACCTTGTGGGAGTATAATAACAAGAGTATTGGT TGAGTAGTCTTTTGAAAAATATAAATTATATTTTCGCAAATAGAACTCCT TGAGTCCCCTTATGGCAGTCAAGCTGAAGCAGCATGAGCGTCATATCATA GTGATGTATTTTAAGGTCACAACGGCGGAAAGACATAGAAAGTATCTGAC CTCTTAGAAACAAGCAGCTGCTGCCTGGTGGTAACAGCAAAGGGTGGAAG TCAATAGGTAGATTTTATCTGATATTTTATTAGACAGAAAGACTTTAACA CTTGTTTGCTTTCATTTAGATGTGACATAATTTTTTTCTTACTGCATTTA CATTCTATTCAAACACTTTTTCTATCACCAAAAATTTTGTCAAAAACATG TTGCTTATTTTAAGCCCCTGTTTACCGAAAGAAAGCAGCTTTTTCAAATT CTGTACATACATTCTATGACAGACTCTAAAAGTTCTCTTCGTGACATGCA TGATTTTTAACAGTAAACAGTTCTATGATCGTGAATATTTTAAATGTTTA CTGCTGTATGTGTCCCGGCAAGTAGCAAATGTGTTGTATTTTGTTTGAAA TT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	286	0.0035	-11801	c.242 others(14): Show c.2421+1496_2469del	p.Ser others(13): Show p.Ser808_Thr824del	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	25/36		2422/4194	808/1397		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37177714	GCGCATCA others(11794): Show GCGCATCAAAAAGAAATAGATAAAATAAATGGAAAATTAGAAGGTAAGAA CCGTTTTTTATTTAAAAATCATTTGACCAAATATTTCTCTAAATTGATGA GGAAGGATATCCTCTAGTAGCTGAAGAAAATTACCTCCTAAATGCAAACC ATGGAAAAAAAGAGAAGTGCAATGGTCATAAGCTATGTGTCTCATCAGGC ATTGGCAACAGACTATATTGTGAGTGCTGAAGAGGAGCTGAATTACTAGT TTAAATTCAAGATATTCCAAGACGTGAGGAAAATGAGAAAATAAGAAAGA AGAAAGTAGTAATAGAGTAAATGAAGACTGAGAAAGACAGAGCGTACAGA GAGTACATGAAGGAACAAGAAACAGGTTTATGTAATGGAGGATGATAAAA TGAAATGATTGTTTAGGAAAAGATCGGGTATGGTTAGAAATTTGGGAAGA ATATAATGTGACCTTCTAGAATCAAAATTTACCAGAGAATTACAGCAAAA ATATTCTGACTCTTAATGTCTTTCTCACTGGTGGGAAGCCATTAGGGATG GAAGCACCTGACCATGGAGAGCTGTGTTCTATTTGCAATAGGTGAGAATA AGCATATCTGCACGGCCACACATGTATATAAATTGTCATATACACTCCGT ATAGACCAGAGGTTTTCAAACTTTAGAAAGTCAGCTGAAAACCTTGTTAA CAATTCACACTGAGATTCAGCCGACCTGGGATTCTGCATTTTTAAAAAGT TCTCAGGTGATGCTGATGCTGGTGGTCCTTGGACGTTGCTCTGGGTAGCA AGAGGAGAGGCCTTTTGTGGGAAAAATGTGGAAGCAGAGCAACTGGATAG AAGGTCAGGACAGAAAAGGTCAGGAGAAAACATCATGGTCCTCTTAATTT TGAGGATGTTTTTAGTCAGGGGAGAAGAAGAAAGGAGCAATGCAATAGAA ATTATAGATGGAAGGTACTACCACTCCTCAAAGTAAAAGGAAAGAGTGGG AAAAAATAATTTTAACAGGTGTCGAATGGGAAGAATCAAGAGCACAAGTC TAGTGATTATTTTTGCTAAAGCAGAGAGATTGTGAGGCAGGAAGCAGGGG ACAAGAGAGAAGCCAGCTAGATGATTTTGGATTTTCTATGAAGGAAAATG GAGTGAGCTCACTTCGGAAGCATTTAGAAAAGTTTTACTGCAGAATGTTA GAGTGTGGGTGCTCTGGAGACTACTGGAATCATGAGGATTACTAGAATTG GACTAAACCTCAGTGACTCATTAATTTTCTTTATTACTATGAGGCGTCAA ATATATATATATATATATATATATATATATATATATATATATATATATAT AGATGTGTGCATGTATGTATGTTTTTGACGTTCACAATTTGAATAAGATA TACTTGAATGTAAGAACCTTGGCTTTATTTTTAAGGAAGCAAATTGTGTT GGTAAAATTGCCATTTTATAAAACCTCATTAGTAAATAACATGCTACACG AAACCAGACTAATTTTGAAAACCATAAAACTCTGAATTTATGACTTGAAT ACCTAAATTGTTGTTATTCGTAGGTATTTTACTGATTTTAACGTAGAAAA TGTTATTAATATTTAAAAGTCTGTTGTAACTAAATTTAAATGAAATACAT CAATATTGAAAGCTTATTAAATTTGCTATTCCTGATGAGATTTGTACATC TTCCTGCATGAGTGGATTAAGAGATATTGAGATGACTAAGCTAGAAATTA CAAAAATGTTGGCATACTATTCCTACATTATGGGAATGAATACCCATATT CCAAGTATATGGGTATGAAAATCAAGGAATATTTATATTTAATATTATGC TCTAAGTATATATCCAAGCTGATCAATTCATAACACTTTTTCTGATGAGA TGTCAATTCTACATTCAGCTGAACTCTTATCCGAACTGTGTGGCTTCTCA ATGACAGGACATATTAAAGAACATGATGAATGTTTGTAATGCAATGATAT AAATTATTATAATGTGTTGCCTTAAAGACACATGGTGTAGCATTCTACGT TCAGCTTTTGCATTTATTTTCTCAGTGTCATGATTTGCTCCTGTGATTCC AGATCAGTTGTCTCCTTATCAGTCAGCATATACTTATTGGTATTAACACT TTTTGCAAAAATCATATATAAATGGTTGTACAATGTTGTTGTCATTCTAC AGCAACTTTTTAATTTTTGTTCAGCGATTAGCTTGTTTTTCATTTATTTT AAGATTTCAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTG GTAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGG CTAACATGGTGAAACCTCACCTCTACTAGAAATACAAAAAATCAGCCGGG CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAAGA GAATGGCGTGAACCCGCGAGGCGGAGCTTGTGGTGAGCCGATATTACATT ATTGTAACATTGAAATATGCAGGTGAATGATATATAAAAAGCCTCTGGAA GTTTACTTCTAGTTTTTGATACTTTCACGTTACGTGTTTTTTCTTTTTTA GAGACAGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAATGGCATGATCT TGGCTCACTGCCACCTCCAGCTCCTGGGTTCAAGTGATTCTGGTACCTCA GTCACCCAAGTAGCTGAGATTACAGGCATGTGCCACCATACCTGGCTGAT TTTTGTAATTTTAGTGGGGACAGTGTTTCTAAAATAGTGATTTTGGCCAG GCTGGTTTGGAACTCCTGGCCTCCAGAGATCCGCCCTCCTCAGCCTTCCA AAGTGCTGGAATTACAGGCATGAGCCACTGCACCTGGCCTGTATTGGTTT GTTGATGGGTACGCTTGGACCTTTTTGTATAAGTGGATCAGGAAATTTTA AGAGGACTAAACTAGAGAACCCTATGAATGTGAAAATACTCGTATTTCAC AGAGGTACAAAAATGAATATATTTATTAACTTTTATTCTATAGGTAGATA TGCTGCTGAATTTAGAACATTCTCTGCAATGATAAGTACGTTGTACCTTT GAACTCTCATCACAACTTTGCAATTCCTAAACTCCAGGACAAATTGAAGG ACATAATAGCTACATGTATATATTGACATAAGTGATTCTGACGTGTTTCC TTAACAATATGCCATAGCATTCTCCCATTAGCTTAGTCATTTATTCTGTT TTGGTGGGGTGTGGCATGACTTGGTCATCTTATTAAATACAACTTCTTTC CTAATACGGCCGCTTTCTCTTACTGATAGTAGGATATTTCTGCTTTAGTT ATTGTCACCTTAAATATATTTTCAATGTTGAAATCCTCACAGCATGTTTG ATGAAATCTAGTTTTCAAATTTTCTTAGGTATATTTCTGTCACGTTGGCA TGATAACAAATGCAATAACCCAAAAGACCCCAAAAGCTAGTGTAATCCCT TTTGCAATCCAAGCATGAGGATTCATCTTCATGTTGACAGTGCGTGAATG TTCGGTAGGCTTTGTCAAGCTTGCATACAATAAATTATATATGTCCCTTT TCTTTTAGGGTCTCCTGTTAAAGATGGTCTTCTGAAGGTAATAACTTTTA TATTTTTATCTTGAGTATTAACTACATATTTTATGAAGTATACATTGTAT ATTAATTGTTTTCTTTCCAAACCCATTTAGGCTAACTGCGGAATGAAAGT TTCTATTCCAACTAAAGCCTTAGAATTGATGGACATGCAAACTTTCAAAG CAGGTAAATTTTGTAATTTTAATTTTACTCTGGAAAGAAGAATATTAAAA TATTTGAAATGCTGTGAGACTTTTCATTCCCAATGTTGTTTTCTATTCAT AATTTGATGGGAAATTTCGATACAAATAATGCCAATGTGAGTATTTCTGT TTGAGAAAATGCCATTTACAAGCATAAGATTTAGAGATTTAGAAAAAAAA TTCTGCTTTACCTCATGTGGTTCTACTTTAATGTCCTGATCGGATAAAGT TTCCAATTTGCAATTTCTGTACGCGCTTGGTTTTAAGGTAGGTGAATTTT GAGACTGTGAAATATTTGCAGTGGTTCGAAGGCTGATTGGAATTCTGATG TTTACTCAGAAGAAAGTTTCACTTGCTGACATGACAGTTGTGAGTGTTAC CACTCTGAGAATCTTAAGAAAATCAGTTTTTTTTTTAATAGATGACTGTG TGTGTGTGTGACTTATAATTTTAAAAAATCAGTCAAGCAATCATTACTTG ATGACTCTTTGCTAGGCACCGCATTTTAGAAGAGTGACCCCAAAGCATTT GGCCTTGGTGTGTTTTAATGCTACTGTAATGAATTGCCTAGAGATACAAA AGAGCCTGAAGTAGTTTTTGTCATTCCCGTGAACGTTTACAACATTTTAC AACAGGCCTTGCACGGTGGCACATGCCTGGAATCCTAGCAGTTTGGGAGA CAAAGGCGGGCAGATAAGTTAAGGTCAGGAGTCCCAGACCAGCCTGGTCA AACTAGTGAAACCCCATCTCTACTAAACATAACAAAAAATAGCCGGTTGT GGTGGTGGGTGCCTGTCATCTCAGCTACTCTGGAGGCTGAGGCAGGAGAA TGGCTTGAACCTAGGACGCAGAAGTTGCATGAGCCGAGCTTGTGCCACTT TAGCCTGAGTGACAGAGTGAGACTCCATCTGAAAAGGTAAAGAAATAAAA ACACAAAACTCACAACATATGTGTGGTTATAGACTATGTGTAGAATTTGT TTTCATGTCTTATAGGCTGTGTGTAGAATTTGTTTTCATGTCTTAAATTT TCTTTTTTTTTGTTTGTATTTTTTTCTTCAGTTTTTTTGTTTGGTTTTGT TTTTGTTTTTTTGAGATCACCCAGGCTGGAGTGCCATGGCGCCATCTCGG CTCACGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCTGAGTAGCTGAGACTCCAGGTGCCTGCCACCACGCCCGGCTAATGTTT TGTATCTTTAGTAGAGACAGGGTTTCAGTGTGTTAGCCAGGATGGTCTGA TCCGGATCTCCTGACCTTGTGGTCCGCCCGTCTCGGCCTCCCAAAGTACT GGAATTACAGGCATGAGGCACCGTGCCCGGCCGATGTCTGAAATTTTCAA TAAATAGTTGTACACTGTACATATTGTCCTGGAACTTCCTTGTTTGCTTA TCGAATATTTTAGATGGACCCAATACAATTAGCTCTGCTTTGATTTAAGG CCTCATAGTTTGCCATGTTAACTCTAAAACACATTTAATTAGACTGTGTT TCCTAGCCACTAAAAGTCGACATTAAATGGCAGCTGATATCACAGAGCTT TTACTGAAGTGGGAGTATTTACTGCTTCATCCACTGTTAGAAATTAAAAT GAAAATATTTAAAATACACGAATTGGAAAAGTCCTACTTTCCAATACGCA TTACAACTGTTACTCATTAACCATGAAAATTATGACATTGTGACATGTCA TGAGTCTGAAAAATTTTAGTTTACACTTTTTAGAAAATATCAGTAAATAG GAGAAATAGGAAAAACATTATGTGAACTATTAGGCCCCCGGTGTATTTGT TGAACTTCAGAGATGCTCAGATCAGAAGCTAGAACAAGAATTTTCAAAAA TGCATAAGGTTTTAAAGTGCCAAATAACAAATGGGCTCTTGTATATGAAA TAATGTCTGAAGTTGCACCTCTGAGTCTTTTCTCTCTTTTTCTTTTTTAA AAAGATATAAATCAAACAAAATCAAAATTTTGTTTATAATGAAAAGAGTT GGTTACAGATTCATTCTGTGTCTCATGGCACTGTGCTCTCTTTTTCCCTA GAGAGGATCTAGACTTTTCATCTGTTTACATGGGAAGAAGTAGTTCAGTT TATGGTCTCATTTCTCATATAAACTGTGAAAATTCTCCACGGCTTCACAT GCTAGTTCAGAAGATATTGATGCCTTGAGAATAAAGCATCTGGTTGTAAC TCCAGCAGTTTTATATTTAAAGTATACCTAATATAATTGTCAACCACATT ACTTTAGAAAACATAAACAAAAGATAGTTACACTTATTTATTTAAAAAAT GGTGACCGGGTGCGGTGGCTCACGTCTGTAACGCCAGCACGTTGGGAGGC CGTGACTGGCAGATCACGAGGTTAGGAGATCGAGACCATCCTGACTAACA CGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGACGTGGT GGCACGCATTTCTAATAATTTCTCAGGCGATGCTGCTGCTGGTGGTCCTT GGAGCTTGGTCTGAGTAGCAAAAGGAGAGGCCTTTCATGGGAAAATAGTG GAAGAAGAGCAGTTGGATAGAAGGTCAAGACATAACAGGGTCAAGAGAAT GCATTATATTGCTTTTATTTCTGGGTATGCTTTTAGCCAGAGAAGAAGAA GAAAAAGATAAACAGAAATTATAGATTTAAGATACTATCACTAAACAAAG AGAAAGGAAATGTTGAACAAATAAATTTGAAACAGTGTTGTATGGGAAGA ATTCTACAGAGTTAGAGGTTTTTTTTTAATTTCTTTTTTTTTTTTTTTTT TTTTAGTAGAAGCATTCAAGTCAGGTAACGGGACAAACAAGAAAGAATGT AGGCAGGTAATTCTGGAGACTCTGAGAAGAACAGTTGAGTGAACTCACTT CAGATGCATGTAGATTATTTGCACTCCAGAATGTAGACTGTGGGCACTCC AGAGACTACCAGAATTGGGGGAACCACAGTGACTCATTAGGTTTCTCTGT TACAATCAGGCATGAGAAATATATATATTTTGTTGATGTTAGCTATTGAA ATGAGATATATTGGAAACTGAGAACATTGGCTTTATGTTTAAGGAAGTGT GTTGTTTTGGTAAAATTGCCATTCCACAAAAATTTATTATAGACTAATGA TACACCAAACCAGGCGAATTGTAGGATCTGAAAAAATACTGAATTTATAC TTGAATAATAAGATTGCTTTTTAAGATAAATATTGTGGTGACTTAACAAT GTAAAAAAAGTTACTTATGTTTATTTAATCTATTGCAATAAATTTTTATA TAAATATGTCAATATTGAAAGCTTAGTATAGATTATTTCCATGATGAGTT TTACACATCTTGCATGAGTGGATCGAGAAGCATTCAGATGGATAAAGTAG AGGATACAGAATCATAGGCATATGATTACACCCTATGGTTATGGAAAAAA ACGAATATTCATATTTAGTATTATGACCTAAGTGTATATCCAAGCTGATC AATTCATAACACTTCAGTGATGAGATGTCAGTTGTACATTCGGCTGAACT CTCATCATAACTATGTACCTTTCCAAAGATAGGCTATATTAAAGAACAGG ATGAATGGAATAATATAAGTGATTCTAATGTGTTTCATTAAGTACGTGGC GTAGCATTCCATGTTCAGCTTTGACATTTATTTTCTCATATCAACCCTTT TTACACGTGAAACACAATCTCGCTCTTGAAGTCTTAACTGCATGATCTGT GAAACCTGTATTTATATTTTCTTCAGTGTATTCTTGTCGTGTGTGTGTCC TAAACAAACCAAAAGAAAACTTTCCAAATCTAAAGTATTCATTCTCCAAT TGGAGCAAGAGGAGTCAGTTAGATACTATCACGGCATTCATTTGTGGCTG GCTTGTCATATTTACTTATGATTGATAATAAATCTATTTTGCTTTTTAGA GCCTCCCGAGAAGCCATCTGCCTTCGAGGTATTTAGTTTCATGATTTCAT TTTGAATGACTTATTAACTATGTATTTTGTGAAGTATACATTCTTTATTA ATCATTTTGCTTCCAACCCCATTTAGCCTGCCATTGAAATGCAAAAGTCT GTTCCAAATAAAGCCTTGGAATTGAAGAATGAACAAACATTGAGAGCAGG TAAATTTTTTAATGGAACTATGCAAAGACCAATATTTCAATATTGGACAT TTTGATGGTCCTTCTATCCCCAATGCTTTATTTTTTTCAACTTTGATGAA AAGATTTGATCTAGGTAATGCCAATACTGGTATTGATGTTTGAAAAGCTG GTATTACAAGCACAGTAATTTTCAATATCTTTTTTTAAAAATGTAGGCTT AATCTCAGATGTTTCTACTTTTGTATCCTGAAACTGTAATGTTTTCTATT TTGAACTTCTGTATTTCTTAAGGATTCAAGAAGGTGAATGTTGAAACTCC AATTTCTTTTTTTAGCTCTTCGAAGCTTGATTCAAATTCCACGGTTTACT TCGGGGATCCCATCTCTTACTGATATAACCCTTGTGTTTTAACATGAATT ACCTTGTTTCCGGTGTTGTCACTTTGAGAATCCTAAGAAAATCAGTAACT CGGACTAGTGAACTCTGTGTGTTTATGTGTGTGTGTGTCTGCGTGTGTGC CTGCGTGTGCCTGTGTGTGTGTGGTACCTTTACCTTGTAAAGATGAGGAA AGGAATTATTCATTTCTTTGTGAATATTTGATAAACACACTTTTTCATGA AACTGTGATTCTGAAGCATTTGGCTTTAGAGTCCTTTTACGCTAGTACCA TTTATTGCCTGGAAGTAACCAATATTCTAAACTGTTTTTAGAAACTCTTC TTATGCATGTTTAAACATTTTACAACATGTGTGCGTGGTCATATTTAATA TGTACGATTTTTTTCAACTTCTAATGTGTACATGGTTGTAGAGTGTAGTG TTCGGCAACATTCTTTTTTGATCAGCATTATAATTTTTAGAGACATCCGT AAAGGACACAATTAATTGTGTTTTTAAATATTAGGTTATTTATAAAATTC CATTGTATGACAGTACCATAGTTAATTGCACAATTTTTATGCCGAGAAGT AATAAATAAAACTGAAAACATGCAAATTTGGGAGTCTTTAAAAAGTTAGT TTTATCTGCTGATTTCTTAGTCATTAGAAATTAAAAGTAACATATTTAAA GTATTTCCTTGTGCAATCATACACTCCACTAAGAATTTGAACTGTGCCCC ACAGCTTCTTAGAGCTATGGTGTGGCAACACGTTAGATCTCTGAAACGAT CCAGGGTACGCTTCTAAAAATGAGTGAACATGGTGACTTACCAAAGTGTG ATTTGAGTTTCCTGGACCCTCTGCATGAAATGTGAACATGAGCTATGCTG AGATCACAAGTTAAATTTACTTTTGAAACCAGGTATACAGTTGATGGATG TCAAATGATAAACGTATGCATAGTGATGAAACGGTCTTTTAAGTTTTAGG TGTGCATGTTTGCTTTTTTCCTGAACCTGATTCAAATAGTTGTAATTTGT ACTTTGTGCTGATAAAGAAAACTGGACGTTATTTTTGGTATAAATTCTTT TTCTGTCTTATGTCCCTGAGAACTCGTCAAGTCTTGAGTGGGCCTTGATT TTATCCTATTACACGTGGGAACATTAGATTACTTAAGGCAATTATATTTT CCTATACATTTCTGATGTTTCTCCAAGGTGTCACAAGCTGACTCTGAAGA TATTGTTGCATTAGGGAAGAAGTGTGTCATTGTAAATGAAGCAGTTCTTA ATTTATACGCAATAAAAGTTTTTTAAGCTTATCTTCCTAAAGCTTATACA CACGCAAAACACACCCAATACACTGTCATAGCATACTGAAATGTAAAAGG GTTGGACATATAGTTGACTGACATCAAAAAGTTAATATTTCTAAAACATC TTATTCATTGATAAATCATCTTTTTTGAAGAACTGTGTAAGAGAGATTGC TGAGTCAATCAATGTAAGTAATACTACCAAATAAAAAGTAACAAAGAAAT GAGAGATGATAGGTAATTCCAGTTTTCTGAATGAACAGGAAACCTAGGGC ATACTGCGCTTCACAGGAGAATAGGATATGACTGCTTTGTGAAGAGATAA TTCATACAAGTTAGTTAAATTTCTATTTTTCTGCATTCTAATGAAATAAT GTTAATTTTCAGACTTTTTAGATTTCAGTTCTATTGGAATGACTATAGAA GTAGTCATTGCAATCAACAAAAAGAATATACGGGCTACAGAGGAAAAACC TCAGATTCGTGAATGAAAGTAGATTTGTATATGTTTTTAAAATTTTTAGT AGAGAACTGTGCTCATGAATGTATCTGTGATTAACCTTTTATAGATGAGA TACTCCCATCAGAATCCAAACAAAAGGACTATGAAGAAAGTTCTTGGGAT TCTGAGGTACTATGTGTTATTGATTTTTTAAATATTAGTATTGCATGATA TGAAAACATAAAATCAGATGCTTAGACTTTATGTTCTCACCTCTGCATGT GTCACCCCCAAATTATTTTTGATATTTTTCAGTATATGCTTAACGGAGAA TCTGTGTGCTAAGTAGATTCCTGCTTCACAGTGAAATTCTGGGAATTTGT ACGATTAATTTAAGAAGCCAAAGTGGTATAGTGTAAAAACTAAGGCTTAG AATTCACTAGAAATTCACATGGGATCTGGAGTACTTTTGTCTAAAAGGAA AAGAATTACACTGAGTCCAGCTATGGGCAAATATATGATTCTGTCTTATA TCTAGAGGTAGAAAAGTTCTAATTGTATTCATAGAGAGACACTTTAAACT GCAATATTGTAAAAGTTGGGACCTGAAAATTTAATGCCTGGGACTTGAAC GTATTGACATATCTTTATTGTTCAGTATAGATCTGAAGGAACATTTCAGC AGAAAGGAAAGCATGAGGAATAGGAAACCTTGTGGGAGTATAATAACAAG AGTATTGGTTGAGTAGTCTTTTGAAAAATATAAATTATATTTTCGCAAAT AGAACTCCTTGAGTCCCCTTATGGCAGTCAAGCTGAAGCAGCATGAGCGT CATATCATAGTGATGTATTTTAAGGTCACAACGGCGGAAAGACATAGAAA GTATCTGACCTCTTAGAAACAAGCAGCTGCTGCCTGGTGGTAACAGCAAA GGGTGGAAGTCAATAGGTAGATTTTATCTGATATTTTATTAGACAGAAAG ACTTTAACACTTGTTTGCTTTCATTTAGATGTGACATAATTTTTTTCTTA CTGCATTTACATTCTATTCAAACACTTTTTCTATCACCAAAAATTTTGTC AAAAACATGTTGCTTATTTTAAGCCCCTGTTTACCGAAAGAAAGCAGCTT TTTCAAATTCTGTACATACATTCTATGACAGACTCTAAAAGTTCTCTTCG TGACATGCATGATTTTTAACAGTAAACAGTTCTATGATCGTGAATATTTT AAATGTTTACTGCTGTATGTGTCCCGGCAAGTAGCAAATGTGTTGTATTT TGTTTGAAATTTCTTATTTATTTTTGATGAGGACTAGAACGTAAGTTAGA TATTTTTAAGAGAGATACTTTTTGAAATATGCACGAGTGAATTTTTTGTG AAGGTGATTTGTTTTTCCTGCTCAGTCACCGAGTTAATGGCCACGTGAAC GTAAAGATGAGCTTGATGTAGAGAGGGTTATGTGAGGTTTTCTATCAAAA TGTGTTTGTTTTCTACATGTATCTGCTCTTAAGTCGAATTGTTTGCAAAG GAGGAAATTGTGTTTTTAAAAAAGAATTTAATTAGGAAATTTTGATACTC TTCATTACTAGGATTTATCCATTGAAATTATTTATTGCTATTACTTTTAA CAGAGTCTCTGTGAGACTGTTTCACAGAAGGATGTGTGTTTACCCAAGGC TA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18983.hp2 NA18983.hp2	a0043 a0043	a0043c0025 a0043c0025	a0043c0025t0001 a0043c0025t0001	a0043c0025t0001g0092 a0043c0025t0001g0092	1	286	0.0035	-11801	c.242 others(18): Show c.2421+1851_2512+312del		ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	25/36					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD36_chr2_97108153_97269521	97147001	TTAAACCA others(3856): Show TTAAACCATCAAAATTTTAAAGGCAGATATCAGTTACCTGTGGCCACAAG ACCGTAAGTTTTTTGTAAGCAAGACTAGGCCAGTCCTAGAAAAATATTAT TTTACTGTGCATGGAGAATACCTAAATATAGACCATGTTATGACAACTAT ATTTAGCATATATTAAAATGATATTTCTAATTCATGTCTCTACTTACTCC CTACCCAGTTAGGTTTTCTCTTTAAGTGAGCACCCTGCCTAGTTTGCTGA AGCTTTTTCTTATTTTGTGGATTCTTCTTTTTTCCTTCTATGACATTTTA GTATTTTCTTGATTTCTTTTCACTTTCTCTACCACTTTTCTTAGGGTTTA AGATCTTCTTTTATAGTTTTCATGTATGGCAGCTAAATATTCCCCATTTT CCTATAGACACAATCAGAGGTGCATAAAATTTCAGAATGTTAAGAAATCC TAGAGACTAAACAAAGTATCCTCTAGTGCTTGAATCCTTGCTTAACATCC TGATCAAGTGGTTGTTCAGGTGGAGAACCTGAAACTCAAAGAGAGAAAAT TATTTGGATACAGTAAATCAGAGAAATGAGAATTGCACTCAGGTTTCTTA GTTCAAAACGCAGTCTTCTTTTACATCATTCTGTCATTGAGTGATTTTAG TTTTAGAAAGAGGGAGTGGCTCTAGTGAACACAGTGGAAGAGGATGAGAA TTGAATGAGCTGTTGAACCTAATGAAAGTGAATAAGAATGGAATTTGCAG GGGGCAGCCAAATTTGAAGAGAAACAAACTCTTAGTTTGATAGAAATGAG GATTTTAGGGAAAAATCTGAATATTTGGTTTAATGCAAGTTTGATAAAGA TAAGGGAAATGATAACACAGGATGTTGGGAGCTATCAAGAAAGGCATATT AGAATATGGCGTTCAAGGAGTTCTGAAGAGTTTGCTGCCTTTTTGTTTGT TTAACTGGAGGAACTAACAAACTTCAAGGTTTTATTGAAAAATGTTAAAA GAATTTGAGCCACTGGAAAGAGTCTCCAGAGGAGATAGGAATGTGGTATC ATCTTCTTCCATCCCAGCTTACAGAGGGCTTAGAATCCCTCAAGAACCAG GGAGCTGGAGATTGCTTAAGTACATAGATCTGTGATCCAGGGTGGATGTC TCTTTTTTTCTGACTCTTTTCTCAATTCTCTCATGTACATGTAGGGTGGG ACAAATGTAGGATTGGCCGGCAAACCAGCAATGAAGCTTCATTTGGGTAG TTGGTAACATGCGTATGCTTGGGGTGGATGACTGAGACTAACTTACTTTC CAGAAGCAGAGGAATAGAGAGCTCCTACTCTCAATTATGTTAGCCCATCT TTTGAGAAATCTGGGCTTTCCTAGGCTGAAGATGTAGATTGGAGATTGCC ACAGATCCCTGCAGAAGAGGGATCCAGAAGTGGGAGCCCATAGGAAGGAA GATATTTAGATAGGGATGAATGAAATGGAGCTATAAGTACTTAGGAGGGA GACTTTTCCAGCAGTCTCTCTCTTGGGTATCTGAGTGTCTATGAAGGTTC TTAAGCTTGCTGGTTTTTGTGGATCTGAATAAGGCAGAATCTATATAATG ACGATAATTGGATTTTAAAATTTTTAATGTTTTAATCTTCTGTGAAGAAT ATTCCCAATAACAATCTAACAACATATACATTTGTACTTTGACTTTTGTA CACTCAGCTTTCAAACATTTGCAGTGTTTCAGGGGGCTCCCTGTAGTGTT CTAGGGTGAAAAGAATCAATGGGCCCTCTTTAAGTAGCTTACATGCTGAA GATCCAAGACTCCCATTTTCCAGTGACACAGATTAGTCTTTGAATCAGAA ATAGATAATGGAGAAGAGACCGTGCCTTTTCTACCTTGTTTTAGGTTATC AGGTTTACTGCAGTTCAGTAACAAAAGTTGTGTCAGATATCAACTGGATT TTCAGTTTAGTCTTTAGGGTAGATAATTTATAAGGACAAATTATTGTCTG GCTGTGCCATTATAATGCCTGTCACTATTTGTTATGGGTTTAAGGGTGAG TCTGCATTGGATATTTCATAGGTTGGGAGAAGTGGCAGCAGAAATAGGTA ACTGAAATGTTTTCTAAAATGGAAGCCATATCTTAATTATACCAAGAAAT ATTATTTAACATGCAGATAACTGAGTTTCCTCAGACTTTGTTTTACCATT TTTTTGGAGTGGACATACGTGTATAGACTGACGGTTTTTGTTTTCTTTTA AGAAATGAATGAGCTCATTTTTGTAATATCTTTTTGCTCTGTAGGAGTCT CTACAGACCTGATGCTGTTGCACAGCCTGTGACAGAGAATGAGTTTTCTT TGGAATCTGAGGTAGAGTACTCTCTTGTGAAATTAATTTTCTCCCTCTGA ATCTCATTTTTTATATTATTTTCTTCTAAAACTTAGCAGTTGTCTACCTA TCATTGTTTTATGTTACTATTAAAACTTTTATTAGAGATAACCATTTTAA AGAAATGGGAGGGGTTAATTTTAATTTTTTTTACTTTGGCAAATAAGAAA TAGTTGATAAATACTTTGAGAGGTGTGATCTGAAAAAAAATTGCTGGAAA ATACACAGTGACAGAAAAATGATGTTCGGGAATGCTTTCCCACAGTAGAG GATATACAAATTTTGGTCTAGGCTTATTTGAGTGTTTTTACTTTGAGTTG TATATCATATGAGTATGACTAATAATACCTCTGTTTAAATGAATCTTTAA TACATCAGATGACTTATCAAAGAAATCATGGAATCACTCTGTTACACATA GCATATAGTTTCTTTTTATTTCTTGTGCACATATTTTGATATCATACTGT ATTTTTGCAGAGCTATTTCTTTATTTTTATTCCTGGCTCTGTAATTAGAC TAAAATAATATTAGAAATTGTGGAAATTTAACTAGACATGGTATCATGTG CCTGTAGTCCCACCTATTCAAGAGATCAAGTCAGGAGAATTTCTTGAGCC CAGGATTTTAAGACCAAGCTTGACAATATAACAAGTGCTTATCTCTAATT TTAAAAAGTTGTGGAATATTAGAAATTCAAATTCTGTTCTCAAATCTGTA TTAGAGAGGGTTTACACTGTGTTTTCCAAGCCTTTTTTATTTAGAGTATA CTTTAAACTCTTTATTTAATTGAAAAATATGCATTTTGTTTAAATAACCT GTTTGATAAACAGAGACTCTTCATATTTTATGGTCAGACTTTAATTTCAC AATGTTTTTGAATTGTAATTAAAAAGAATCCACTCAGGGTCTTTGTATGG CATTCTAAATTTCAAATTTCAGAGGCTTTTGTGCTTAGTTATTGAAAAAA TAATTGTAAAGCTCCTGCATTACTATGAGGCACTTGAAACTAGAAAACCT ATTTGTATGTGTCCTGGAATACACAGAATAAGGTCTTGCATGTAAGAAAC ACTTTAATAGTTTTTAATGTGAATCAACAAACAGGTAAATGGGCTTTCTC ATGATGGAATGTTACAGGTAACCTAATATGCATGACATATCTAATAATTA AATCTATTAAATGTCTTGAATGTTTTGAATTTATCTTTTTTTCTAATGTT GAGAATGTATAAGTTGAGGTGAGTTATGTTGAGAAAATATGTCATATAGA AGAAAATAAAATTTAGAAAAGATGAAAAGGAAATAGGAGAGGTGGATACA GCCTAATATCTTCCAACTGGAAGCTTAGATTAGGATTTTAGATTAAATTT TCTTAAATTTTTAAAGCCCCAATCATGTTCTATTAAATACCTTTTTTTTG GGACATACATTACTCTTTCAAATTCTGAATAAAAATTCTTTCTCCAGGTG TTAAGTTGCTGGAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19056.hp2 NA19056.hp2	a0019 a0019	a0019c0032 a0019c0032	a0019c0032t0007 a0019c0032t0007	a0019c0032t0007g0127 a0019c0032t0007g0127	1	212	0.0047	-3863	c.103 others(18): Show c.1034+487_1102-1014del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	12/76					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97147002	TAAACCAT others(3855): Show TAAACCATCAAAATTTTAAAGGCAGATATCAGTTACCTGTGGCCACAAGA CCGTAAGTTTTTTGTAAGCAAGACTAGGCCAGTCCTAGAAAAATATTATT TTACTGTGCATGGAGAATACCTAAATATAGACCATGTTATGACAACTATA TTTAGCATATATTAAAATGATATTTCTAATTCATGTCTCTACTTACTCCC TACCCAGTTAGGTTTTCTCTTTAAGTGAGCACCCTGCCTAGTTTGCTGAA GCTTTTTCTTATTTTGTGGATTCTTCTTTTTTCCTTCTATGACATTTTAG TATTTTCTTGATTTCTTTTCACTTTCTCTACCACTTTTCTTAGGGTTTAA GATCTTCTTTTATAGTTTTCATGTATGGCAGCTAAATATTCCCCATTTTC CTATAGACACAATCAGAGGTGCATAAAATTTCAGAATGTTAAGAAATCCT AGAGACTAAACAAAGTATCCTCTAGTGCTTGAATCCTTGCTTAACATCCT GATCAAGTGGTTGTTCAGGTGGAGAACCTGAAACTCAAAGAGAGAAAATT ATTTGGATACAGTAAATCAGAGAAATGAGAATTGCACTCAGGTTTCTTAG TTCAAAACGCAGTCTTCTTTTACATCATTCTGTCATTGAGTGATTTTAGT TTTAGAAAGAGGGAGTGGCTCTAGTGAACACAGTGGAAGAGGATGAGAAT TGAATGAGCTGTTGAACCTAATGAAAGTGAATAAGAATGGAATTTGCAGG GGGCAGCCAAATTTGAAGAGAAACAAACTCTTAGTTTGATAGAAATGAGG ATTTTAGGGAAAAATCTGAATATTTGGTTTAATGCAAGTTTGATAAAGAT AAGGGAAATGATAACACAGGATGTTGGGAGCTATCAAGAAAGGCATATTA GAATATGGCGTTCAAGGAGTTCTGAAGAGTTTGCTGCCTTTTTGTTTGTT TAACTGGAGGAACTAACAAACTTCAAGGTTTTATTGAAAAATGTTAAAAG AATTTGAGCCACTGGAAAGAGTCTCCAGAGGAGATAGGAATGTGGTATCA TCTTCTTCCATCCCAGCTTACAGAGGGCTTAGAATCCCTCAAGAACCAGG GAGCTGGAGATTGCTTAAGTACATAGATCTGTGATCCAGGGTGGATGTCT CTTTTTTTCTGACTCTTTTCTCAATTCTCTCATGTACATGTAGGGTGGGA CAAATGTAGGATTGGCCGGCAAACCAGCAATGAAGCTTCATTTGGGTAGT TGGTAACATGCGTATGCTTGGGGTGGATGACTGAGACTAACTTACTTTCC AGAAGCAGAGGAATAGAGAGCTCCTACTCTCAATTATGTTAGCCCATCTT TTGAGAAATCTGGGCTTTCCTAGGCTGAAGATGTAGATTGGAGATTGCCA CAGATCCCTGCAGAAGAGGGATCCAGAAGTGGGAGCCCATAGGAAGGAAG ATATTTAGATAGGGATGAATGAAATGGAGCTATAAGTACTTAGGAGGGAG ACTTTTCCAGCAGTCTCTCTCTTGGGTATCTGAGTGTCTATGAAGGTTCT TAAGCTTGCTGGTTTTTGTGGATCTGAATAAGGCAGAATCTATATAATGA CGATAATTGGATTTTAAAATTTTTAATGTTTTAATCTTCTGTGAAGAATA TTCCCAATAACAATCTAACAACATATACATTTGTACTTTGACTTTTGTAC ACTCAGCTTTCAAACATTTGCAGTGTTTCAGGGGGCTCCCTGTAGTGTTC TAGGGTGAAAAGAATCAATGGGCCCTCTTTAAGTAGCTTACATGCTGAAG ATCCAAGACTCCCATTTTCCAGTGACACAGATTAGTCTTTGAATCAGAAA TAGATAATGGAGAAGAGACCGTGCCTTTTCTACCTTGTTTTAGGTTATCA GGTTTACTGCAGTTCAGTAACAAAAGTTGTGTCAGATATCAACTGGATTT TCAGTTTAGTCTTTAGGGTAGATAATTTATAAGGACAAATTATTGTCTGG CTGTGCCATTATAATGCCTGTCACTATTTGTTATGGGTTTAAGGGTGAGT CTGCATTGGATATTTCATAGGTTGGGAGAAGTGGCAGCAGAAATAGGTAA CTGAAATGTTTTCTAAAATGGAAGCCATATCTTAATTATACCAAGAAATA TTATTTAACATGCAGATAACTGAGTTTCCTCAGACTTTGTTTTACCATTT TTTTGGAGTGGACATACGTGTATAGACTGACGGTTTTTGTTTTCTTTTAA GAAATGAATGAGCTCATTTTTGTAATATCTTTTTGCTCTGTAGGAGTCTC TACAGACCTGATGCTGTTGCACAGCCTGTGACAGAGAATGAGTTTTCTTT GGAATCTGAGGTAGAGTACTCTCTTGTGAAATTAATTTTCTCCCTCTGAA TCTCATTTTTTATATTATTTTCTTCTAAAACTTAGCAGTTGTCTACCTAT CATTGTTTTATGTTACTATTAAAACTTTTATTAGAGATAACCATTTTAAA GAAATGGGAGGGGTTAATTTTAATTTTTTTTACTTTGGCAAATAAGAAAT AGTTGATAAATACTTTGAGAGGTGTGATCTGAAAAAAAATTGCTGGAAAA TACACAGTGACAGAAAAATGATGTTCGGGAATGCTTTCCCACAGTAGAGG ATATACAAATTTTGGTCTAGGCTTATTTGAGTGTTTTTACTTTGAGTTGT ATATCATATGAGTATGACTAATAATACCTCTGTTTAAATGAATCTTTAAT ACATCAGATGACTTATCAAAGAAATCATGGAATCACTCTGTTACACATAG CATATAGTTTCTTTTTATTTCTTGTGCACATATTTTGATATCATACTGTA TTTTTGCAGAGCTATTTCTTTATTTTTATTCCTGGCTCTGTAATTAGACT AAAATAATATTAGAAATTGTGGAAATTTAACTAGACATGGTATCATGTGC CTGTAGTCCCACCTATTCAAGAGATCAAGTCAGGAGAATTTCTTGAGCCC AGGATTTTAAGACCAAGCTTGACAATATAACAAGTGCTTATCTCTAATTT TAAAAAGTTGTGGAATATTAGAAATTCAAATTCTGTTCTCAAATCTGTAT TAGAGAGGGTTTACACTGTGTTTTCCAAGCCTTTTTTATTTAGAGTATAC TTTAAACTCTTTATTTAATTGAAAAATATGCATTTTGTTTAAATAACCTG TTTGATAAACAGAGACTCTTCATATTTTATGGTCAGACTTTAATTTCACA ATGTTTTTGAATTGTAATTAAAAAGAATCCACTCAGGGTCTTTGTATGGC ATTCTAAATTTCAAATTTCAGAGGCTTTTGTGCTTAGTTATTGAAAAAAT AATTGTAAAGCTCCTGCATTACTATGAGGCACTTGAAACTAGAAAACCTA TTTGTATGTGTCCTGGAATACACAGAATAAGGTCTTGCATGTAAGAAACA CTTTAATAGTTTTTAATGTGAATCAACAAACAGGTAAATGGGCTTTCTCA TGATGGAATGTTACAGGTAACCTAATATGCATGACATATCTAATAATTAA ATCTATTAAATGTCTTGAATGTTTTGAATTTATCTTTTTTTCTAATGTTG AGAATGTATAAGTTGAGGTGAGTTATGTTGAGAAAATATGTCATATAGAA GAAAATAAAATTTAGAAAAGATGAAAAGGAAATAGGAGAGGTGGATACAG CCTAATATCTTCCAACTGGAAGCTTAGATTAGGATTTTAGATTAAATTTT CTTAAATTTTTAAAGCCCCAATCATGTTCTATTAAATACCTTTTTTTTGG GACATACATTACTCTTTCAAATTCTGAATAAAAATTCTTTCTCCAGGTGT TAAGTTGCTGGAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19079.hp2 NA19079.hp2	a0019 a0019	a0019c0031 a0019c0031	a0019c0031t0007 a0019c0031t0007	a0019c0031t0007g0126 a0019c0031t0007g0126	1	212	0.0047	-3862	c.103 others(18): Show c.1034+487_1102-1015del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	12/76						chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97179736	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0153 a0003c0003t0001g0153	1	212	0.0047	0	c.163 others(6): Show c.1634-2A>G		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	22/75						chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97224796	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(32): Show a0000 a0001 a0002 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0035 a0036 a0037 a0040 a0041 a0042 a0043 a0044 a0045 a0047 a0048 a0049 a0051 a0052	a0000c0016 a0001c0001 a0001c0036 others(40): Show a0000c0016 a0001c0001 a0001c0036 a0001c0044 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0010c0012 a0010c0059 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0016c0023 a0016c0053 a0018c0018 a0019c0031 a0019c0032 a0020c0022 a0021c0021 a0022c0020 a0023c0019 a0024c0060 a0026c0058 a0029c0055 a0030c0052 a0035c0062 a0036c0041 a0037c0040 a0040c0047 a0041c0045 a0042c0043 a0043c0039 a0044c0038 a0045c0049 a0047c0033 a0048c0030 a0049c0029 a0051c0027 a0052c0026	a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 others(46): Show a0000c0016t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0036t0001 a0001c0044t0001 a0001c0046t0002 a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0004c0005t0008 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0010c0012t0001 a0010c0059t0001 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0016c0023t0001 a0016c0053t0001 a0018c0018t0002 a0019c0031t0007 a0019c0032t0007 a0020c0022t0002 a0021c0021t0002 a0022c0020t0001 a0023c0019t0003 a0024c0060t0002 a0026c0058t0001 a0029c0055t0002 a0030c0052t0002 a0035c0062t0004 a0036c0041t0001 a0037c0040t0002 a0040c0047t0001 a0041c0045t0001 a0042c0043t0002 a0043c0039t0001 a0044c0038t0001 a0045c0049t0001 a0047c0033t0002 a0048c0030t0002 a0049c0029t0001 a0051c0027t0001 a0052c0026t0003	a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 others(144): Show a0000c0016t0006g0018 a0000c0016t0006g0076 a0000c0016t0006g0108 a0000c0016t0006g0119 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0001t0007g0100 a0001c0036t0001g0080 a0001c0044t0001g0001 a0001c0046t0002g0051 a0002c0002t0001g0017 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0008g0035 a0004c0005t0008g0041 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0010c0012t0001g0072 a0010c0012t0001g0075 a0010c0012t0001g0083 a0010c0012t0001g0092 a0010c0012t0001g0103 a0010c0059t0001g0090 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0016c0023t0001g0091 a0016c0023t0001g0093 a0016c0053t0001g0104 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0019c0031t0007g0126 a0019c0032t0007g0127 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0022c0020t0001g0097 a0022c0020t0001g0098 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0026c0058t0001g0074 a0029c0055t0002g0023 a0030c0052t0002g0128 a0035c0062t0004g0042 a0036c0041t0001g0113 a0037c0040t0002g0211 a0040c0047t0001g0082 a0041c0045t0001g0110 a0042c0043t0002g0210 a0043c0039t0001g0008 a0044c0038t0001g0067 a0045c0049t0001g0120 a0047c0033t0002g0025 a0048c0030t0002g0003 a0049c0029t0001g0122 a0051c0027t0001g0071 a0052c0026t0003g0193	147	212	0.6934	1	c.387 others(7): Show c.3878-3dupT		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	66/75					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97264169	TAGCATTG others(84): Show TAGCATTGAATCTACTTATGAATACGGTACATATCTCTTTTTGTTTCATT CTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 3_prime_UTR_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show HG00099.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18991.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0005 a0008 a0011 a0012 a0013 a0018 a0020 a0021 a0023 a0024 a0029 a0035 a0037 a0042 a0047 a0048 a0052	a0001c0001 a0001c0046 a0002c0002 others(20): Show a0001c0001 a0001c0046 a0002c0002 a0004c0005 a0004c0024 a0005c0004 a0008c0006 a0011c0011 a0012c0010 a0013c0013 a0013c0025 a0018c0018 a0020c0022 a0021c0021 a0023c0019 a0024c0060 a0029c0055 a0035c0062 a0037c0040 a0042c0043 a0047c0033 a0048c0030 a0052c0026	a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 others(22): Show a0001c0001t0002 a0001c0046t0002 a0002c0002t0002 a0004c0005t0004 a0004c0005t0010 a0004c0024t0004 a0005c0004t0002 a0005c0004t0005 a0008c0006t0003 a0011c0011t0002 a0012c0010t0002 a0013c0013t0003 a0013c0025t0003 a0018c0018t0002 a0020c0022t0002 a0021c0021t0002 a0023c0019t0003 a0024c0060t0002 a0029c0055t0002 a0035c0062t0004 a0037c0040t0002 a0042c0043t0002 a0047c0033t0002 a0048c0030t0002 a0052c0026t0003	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(64): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0050 a0001c0046t0002g0051 a0002c0002t0002g0031 a0002c0002t0002g0132 a0002c0002t0002g0209 a0004c0005t0004g0016 a0004c0005t0004g0032 a0004c0005t0004g0033 a0004c0005t0004g0036 a0004c0005t0004g0037 a0004c0005t0004g0039 a0004c0005t0010g0034 a0004c0024t0004g0038 a0004c0024t0004g0040 a0005c0004t0002g0002 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0005g0199 a0005c0004t0005g0200 a0005c0004t0005g0201 a0005c0004t0005g0202 a0005c0004t0005g0203 a0005c0004t0005g0204 a0005c0004t0005g0205 a0008c0006t0003g0184 a0008c0006t0003g0190 a0008c0006t0003g0191 a0008c0006t0003g0192 a0008c0006t0003g0194 a0008c0006t0003g0195 a0008c0006t0003g0196 a0008c0006t0003g0208 a0011c0011t0002g0011 a0011c0011t0002g0045 a0011c0011t0002g0046 a0011c0011t0002g0047 a0011c0011t0002g0049 a0012c0010t0002g0026 a0012c0010t0002g0027 a0012c0010t0002g0028 a0012c0010t0002g0029 a0012c0010t0002g0206 a0013c0013t0003g0186 a0013c0013t0003g0187 a0013c0013t0003g0188 a0013c0013t0003g0189 a0013c0025t0003g0185 a0018c0018t0002g0043 a0018c0018t0002g0044 a0018c0018t0002g0048 a0020c0022t0002g0015 a0020c0022t0002g0030 a0021c0021t0002g0012 a0021c0021t0002g0013 a0023c0019t0003g0197 a0023c0019t0003g0198 a0024c0060t0002g0024 a0029c0055t0002g0023 a0035c0062t0004g0042 a0037c0040t0002g0211 a0042c0043t0002g0210 a0047c0033t0002g0025 a0048c0030t0002g0003 a0052c0026t0003g0193	67	212	0.3160	-91	c.7- others(100): Show c.7-65_*32delATTGAATCTACTTATGAATACGGTACATATCTCTTT TTGTTTCATTCTTCGCTTTCTTTCATCAGATATGGACATTTCTGGAATTA AGAGC		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	76/76				14097	INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD46_chr8_100515772_100564759	100528004	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01167.hp1 HG02965.hp2 HG03139.hp2 HG01167.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0285 a0001c0001t0003g0048 a0001c0001t0003g0285	3	400	0.0075	1	c.312 others(6): Show c.312-2dupA		ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	3/4						chr8	TogoVar
ANLN_chr7_36384862_36458791	36425997	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG01934.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02717.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0001 a0002c0001t0010 a0004c0007t0001 a0002c0001t0001 a0002c0001t0010 a0004c0007t0001	a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 others(58): Show a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0015 a0002c0001t0001g0053 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0096 a0002c0001t0001g0287 a0002c0001t0001g0288 a0002c0001t0001g0289 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0296 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0300 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0307 a0002c0001t0001g0308 a0002c0001t0001g0309 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0320 a0002c0001t0001g0321 a0002c0001t0001g0322 a0002c0001t0001g0323 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0334 a0002c0001t0001g0335 a0002c0001t0010g0319 a0004c0007t0001g0382	64	408	0.1569	1	c.274 others(7): Show c.2749-3dupT		ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	18/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
ANO6_chr12_45211095_45437349	45377477	ATAGAAGC others(4750): Show ATAGAAGCATCTGTCAGTGATGGTAGAAAAGCCATCATTGGGTTTAAGAA AACAGAGTTCTCCTGGAGGAGAGCCACTTCGAGATAAACCTCAGCTTTGT ACGTCTCTTAACAGGAAAAACAGGAATTCTGAAACTTACCCTCTGACCAG GGTGGGATGATGATAAAATGTAAATCATATATCTAAAAGTTGCTTAGGGA TCATTGTATTTGTAGATCCATACTGCTTCCTCAAATCCATTATGACAGCT CATAAGAGGCTGTTATTCAAGCCCAATGGAGGCTTTAAACACAGTGGAAT TCTAGGAACTATACCTGTTTCCTTATTGGGATATGCAGAGTTTCACTGGA AAATACACTGGTTAATACAGCAAAGACTTTGCTTTGAAAAGAATCAAATT TCATCTATAAGTATGTAGTGGATACATTGAATGATGTATGATCATAGATG ATTGTTAAACTAGGCATCACCTTTGAAAAGAACTTCAAGACTGTAGAATA GACAAAGCATTTCATATTTACTGAATCCTAATAAGTGGAGGATATGACTC ATTTATATGTCATTTATATTTTCCAGAAATTGTGCATCTTCGACAGTTTT GGAACCCTGGTCTTTGCAGTATTTATGGGAGTATGGGGTAAGTTTTTTTT TTTTTTTTCATGCACTCAATTTGATAGTATTACACAGTTTTATGTAGGCT ATCAAAGTAACCCACTTTTAGGATCTTGTATTGCCCAGGCTTCAACTCCC CTAGAATTCCATTTATAACTGAGGGCATTTATCAGTTAACTTTTACTATA TTAAAATCTGCATCAAAATATAGTGGCTTAAAACAACAAACTTTATTTCT CATGTTTATTATTTCTCATCATTCTCTGGGTCAGCTGAGAGTTCTTCAGG CATGGGTTGGCTCAGCTGACTCTCCAGTAAGCTGGCAGCTCCACTGGGGA TAGATGATCTTGCAACTAGAAACCCGGTTTGGTCTGTGGGGCTCGGCTGG GAAGGCTTCTCTGCTCCACATGGTGTCTCATCTTCAAGTAGGCTAGCCCA GGAGTCTTGGTTTCAGGGTTCCAAAGAGAAGAGAGGACAAGCTTCAGTGC ATATGCATTTTTAAGCCTATTGTTGCACCAAGTTAGCTAATGTCCCATCA ACCAAAGTAAGTCATATGGCCAAACCAGCATCAATGTGGGGCGGTGGGAG TACTACCCAGTGGCTTGGATGTAGGAGGCATGATTTGTTGGAAGCCATTA TTGCAACAGCCCTCACAGTGTGATACAACCTAACTTTTATGGGGGTGGAG ATCAGGAGGAAGCAGCAACACAGTGATTATGGGTGAGCTTTCTTTCTCAT ACACTTCTATGTGAGCGGATATTTAATGAGTATCTGCTACTCGTATAATA ACAACAAACTCTACTTACTAACTAGAACAGATATAATTCTACAGGATCTA ATTCCCATATGGGAACTTTACCACTATATATTATTTACTTTGGGATAGAA TCATTAATACAATGAGGCAATTATCATTTTCTTTAAATGCAAACTTTAAA TGTTTAATTGATCTGAATGTTCTAACGTAGAAGAAAAATTTCCATTTTCA AAATTAGATGCATTTCCAATTTCATTGTGTAAGTATGAGGAACAACAGAA TTCAGGTTATAGGAAGGCAGAGGAAAAAACTGAACCAAGTTTCTTATTCT TTAAAAGACAACACGTCAATGTGTGTAACTCACAGAATCAGTTATTTACG GTGTCCTCAGCAGTATTTCTGTTTGGTAGTGATTGTGCCTATGAAGAATT ACCAAATGGATCACAGAACAGACAATCCAGTTATTTTGCTCACTTTTTAG AGATATTTGTTGCCGCTCCACAGATAAAGTGCACTGTAAGGTGGCCAAAC ATCCCAGTCAGTTACATTGGCATTCAGCCATTTAGCATGTTTTGGCTGGA GACCAAACTCTGACTAATATTTGACCCATAGAAGAATAAAGATTGAATGT ATGTATTAAGATCCTCTGTGCTCCTCCATTGTAATACACCTTTCTCCGCC CTCCCCTTCCGCCCAGTAAGAGCTTAGGTGCTGAACACATGGGTCAGCAT TTTAACTATTAACCGTACTCTCAGCGTTGAATCATAATGTATAACATTCT AACACATCTACTAAACTGCATATACTAATGGATGCTGATAGCCCCAATTA AAGAAGACATTTGAAATAAAGCAAAAAATGTTAATTTTGACACTAGAAAG ACAAGCCTCAAATTTACTAGCTAACCTTCCTTTCTCTGATCATTAACTAC ACCATGGTTATAGAACTGACTTACACATTAGCTGCTGATTTTATCTGATT TTTGAATGCAGAAAGTATTTCAGCACTGCCTATAGCATCGTATGTATATT TTTAAGGATATGTATGATAAACTTTAAGTGCTTTGTGTGGCTTTCCTTGT TACTTCTGCTTTGAGAACTACTGCTGTGAACCACTTTACAGAAAGTTTGA AATTGCAGAACCAAACAGGCTACAGCCTCTTGTGAAGTTATTCATATCAC CACCATTATGTTCCTGCAGCATCTTTTTTGTGCCCAGACGCATATGGCAC TTATTTTTCTGCTCCCTAGAAATTATGAAAGTTGAGAGTAGAAAACCTTT TGTAATCAATATAATATAAATCATATACGTACCTTAAAAATGTCCATCCT TTCAGGACAAGGCAGCCCACCTGTTCATACTGATTCATAGAGTCCTAAAC ACCAACCCATGGTTGAAGTAAAGGTTCTAAACACATCCTGCCCACTCCCT TCCTTGTTGCATCTTGCCTACTTACACCTGATTCTCCCTGGATCAGACTT GGCTGCATGACTGCAATGTTTAATTTTCACCTTTGAGGGGTGAGTTCTAA ACTAGGCCTACTTATTTCCAGAAAACCACCAGTCATCTGGCTCACTAAGG ATCTGGGGAACCAGGAAGCCTAACTAGCTGCACTTGGGGATCAGAAAACA GCTGCTGTGACTGTTACTTTCAGACCTGTGCTGCTTCTGCTAGGTCCACA CCAGCAAAATAATGCATCTCCTGCTACCACCACCCTGACTCTGTTCAGCC CAGTTTCTGACTTAAGTGACATACAGATGCTTCTGAGAGGCATTTTAAAA AATCAGATCTGGAACCCTAGCTGCAAGAGAGTTTCTAGCCCTTGAATTAG GAGGTTGGAATAAACGGCTGGGTGTGGTGGCTCACGCCTGCAATCCCAGC ACTGTGGGAGGCTGAGGCAGGTGGATCACTGAGGTCAGGAGTTTGAAACC AGCCTGGCCAACATGGTGAAACCTCGCCTCTACTAAAATACAAAAATTAG CCAGGTGTGATGGTGCACACCTGTAATCCCAACTGGAGGCTGAGGCACAA GAATTGCTTGAATCCAGGAGGCAGAGTTTGCAGTGAGCCGAGATCACACT ACTGCACTCCAGCCTGAGCGACAGAGTAAGACTCCATCTTAAAAAAAAAG TTGCAATAAAGGCTGAGGAAGTTAATCTAACTTCTCTGCCTCTGTGGGTT ACGAGGCCTAAATGGTTTCAAGGCGTTAAAACATCCTAGACCTTCAGCAG CAAACTCTTACAGCAACCAGAACATTCCCATCTACCAGAGTGTGTCTCAT CCTTAGACAATGCAGGATATAACACCATAACACTTTACTGCTCTGAAACC TTTTTATGTATATGTGCATCTTCTTCATCTGATGCATATTTTGTTTAGAT ACAGTAATATCCTGATTAAGAGGAAGAGCTGTTATTGATCCCCAAGTTCC AGACAACCTTTCTCTTTTCTTATTATATGTTGATGTAAGAGTTTTAACTG TGCCTAATCAGCTAGCACCTCTGGATTGCCAGAGAACAGAAGTGTGTTGC TCCCTGCTGAAGTTCTATCAGTTGTCTTATTGCAGGGGGAGAGAGCAAAA GATACGGAACAGAAATTTCTGTCTGTGATCATGCACGGTCACCCCAGGGC TTGGTGCCCTCAATCTGGGACACACAGCATTGTGAGTCAGCACTGGCGTG GCCCAGGAGTACTCCAAAACACTGGATGACTACTAGGTTAGCAGTGCCTT CCATAGACCCTGCAGAATCTGTGGCTGAGTGAAATAAGGAACTAAAACAC TCACCTGTCGCTGCAATTCCCAGGGGTTTTCCTTCAAGGCTGAGGATTTG CTAACACCAGACTATGTCTTGCTTGCATTGCAATCCTATCACTTCCCAGG CAGAACTGCTTCCTATAGTTCAGAATTTCGTAAACAGAAGCATTTTACCC AGTATGTTCAAATTCAGGGAGGAGGGAAGAGGACATCCACTGTTCTTCCC TTATAGCACCGACTAGAGTTGCTTATGTTACTCTTTGTGAGAAAAGTTAA GAATATTATCATGAATTATCTCCTGTTGATACCTTATAGATACTGAGATA GATACTAGATAGGTACTGAGTAAATGAGTGGCTATCACACTCCGATTTTA AAGATGAAGAAGATGACACTCAGGAAGATTAAGCCAATTACCTAAAGCCC CACAGACAGAAAGTGACAAGCATAGAATAAGAGTTCTGCCAATAATTTGG CTATTATCAGTCTTTAGATTGATGACAAAATACAGTGTATATTAATGAAG TTGCAGCAAGCTTTGAGAAAGATGCAGAAATAATTTGGTTTTTACTGACA TAATTGCATTATTTTTGGTGCTGTGAAAAAAATGAGAATGGGTTAGAAAA TGTCAGTT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18994.hp1 NA18994.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0003 a0010c0014t0003	a0010c0014t0003g0163 a0010c0014t0003g0163	1	234	0.0043	-4757	c.110 others(18): Show c.1105-572_1165+4124del		ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	10/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
AOX1_chr2_200581014_200676495	200634789	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	370	0.0027	0	c.222 others(6): Show c.2222-2A>G		AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	20/34						chr2	TogoVar
AP1G2_chr14_23554567_23572791	23564142	GATGTCAG others(11): Show GATGTCAGGGCTACATACC	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00609.hp2 HG00609.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0094 a0010c0009t0001g0094	1	396	0.0025	-18	c.978 others(27): Show c.978-1_994delGGTATGTAGCCCTGACAT	p.Arg others(5): Show p.Arg326fs	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	11/22	1052/2598	978/2358	326/785			chr14	TogoVar
APBB1IP_chr10_26433341_26572803	26438650	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19009.hp1 NA19058.hp2 NA19063.hp2 NA19009.hp1 NA19058.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247	3	358	0.0084	0	c.-20 others(6): Show c.-202-2A>G		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	1/14						chr10	TogoVar
APH1A_chr1_150260404_150274016	150267790	C C	CTGGGG CTGGGG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02451.hp1 HG02572.hp2 HG02622.hp1 others(6): Show HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0005 a0001c0001t0001g0015	9	440	0.0205	5	c.285 others(16): Show c.285-6_285-2dupCCCCA		APH1A	ENSG00000117362.13	transcript	ENST00000369109.8	protein_coding	2/6						chr1	TogoVar
APOBEC3A_chr22_38952609_38968184	38962275	GGCCTTGC others(5902): Show GGCCTTGCCTTCCCCTCTGCTCAGAGCCTCCTCTGGGTTCCCTGCTCCCC ACAGGGCGCCCAGCTCCGTCCCTCCCTTTCCTTCTCACAGCCTCCTTCTC TTTCCCACCTCCCGCATCCCTCCCTCCTCTCCCGTCATTGTCACTGTCCC CAGGCCACCTCCCTGTGCCCTCTTTCCACTCTCTCACCTCCTGCTCCATT CAACCCCCCTGCTCTTCCAGAATCAGGGAAACTGAAGGATGGGCCTCAGT CTCTAAGGAAGGCAGAGACCTGGGTTGAGCAGCAGAATAAAAGATCTTCT TCCAAGAAATGCAAACAGACCGTTCACCACCATCTCCAGCTGCTCACAGA CGCCAGCAAAGCAGTATGCTCCCGATCAAGTAGATTTTTAAAAAATCAGA GTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCC AAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTG GCGGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGC GTGAACCCGGGAGGCAGAGCTTGCGGTGAGCCGAGATTGCGCTACTGCAC TCCAGCCTGGGCGACAGTACCAGACTCCATCTCAAAAAAAAAAAAACCAG ACTGAATTAATTTTAACTGAAAATTTCTCTTATGTTCCAAGTACACAATA GTAAGATTATGCTCAATATTCTCAGAATAATTTTCAATGTATTAATGAAA TGAAATGATAATTTGGCTTCATATCTAGACTAACACAAAATTAAGAATCT TCCATAATTGCTTTTGCTCAGTAACTGTGTCATGAATTGCAAGAGTTTCC ACAAACACTAGCAAATGTGTAGATGTCTTTCCTTGTGTAGCGGACCTGTA GCGGGGAAAGGTCACACAACATCCCTCTGGATCCAGAAAACTCAGCTAAA CCTCACAGGAGAGGAACCTAAATGCAGACCCCACCCTCACTCACAGAGCC CCGCCCACCCTCACTTACAGAGCCCCGGGCGCTGATTGGAAGGGACAGGC CCAGCAGTAAGAGGACAGCCAGCAGCCAGTCTCCCTGTTGGAAAGGAACC ACAAACGTGCAGTCAGGGGCCCTCGGGAGCCGCCCTCTGTCCACCCCTTC CTGATTCCACCCCCCTAGAGAGGGAGCCCAGGGGAGGCCATGGCTGAGAC CCAGGACAGGCCCAGTCGGGGGAAGGAGCCCAGGGAGGGGGCAGGTGTCT AGGCTGGGCCCAAAGAGAGGGCTGGGGAGAGGAGCAGCCCAGGAGGCAGA GCCCAGCCACAGAGGGGAGGGGAGCTGAGTCCCGGGGACAGGAGGCTCCA GAGGCAGAGACGGAGCCCAGGGCTAGGGCGGCAGGTGTCAGGGCTGTGGC TTCAGCTTGGCGTCTGTCCTGGGCCTTCTGCGCTGGTTCCCAACTCTGGG ATGTGTGACTTATATGCCTGATTACAGCGGCGGCTCCCACCTCACGATTT CTGGAAAGTCCTCAGAAGCCGCATATAAGACCAAGAACGGGCCTCACATG CAGCTGCTCCTGGGCAGAAACGACTCACTGTTTCCCTGGCCTAGACACAC ACAACACACAAACACACACAAGACACACATACACACAACACACACAACAC ATACACACACAACACATGCACAAAACACATACACACACACACCCACACAC AGTGACAGAGACTTCACACAAAGAAACCTCCTCCAGGTGCCCCAGAGCAC TCCGGGGCGCACCCCAGCCCCGCCCTGAGCAGAGGACTTTGGCATTTCCC ACGCAGGGGCGGGTGCGGGAGGGACCGGCTTGTCAAAGCTGCCCTTTGCT TGTGTCTCTGGGTTTGATAACAGTCCTAACTCCACTTGTTGGAAGCAAGT GATGAAAAACGTGCAGTCATTCTGGGCAAAGGGACCAGTGTAGGGGAGGC ATGAGAGGCTCACCTGGTGAAAGAACACCAGAGTTAGTCATGTCACAGGG CAGCTCCCAGAGAGACCTGCCCCTCGTCCCCCAGAACCCCACCTTCCAAG GGCCCAGGCTCCTGTCCCCCGGGCCTCAACTCACAGCTTTGCCCATGACC TGGGAGCCCTGGGGGTCCTGGTGAGGTGACTGGACACAGCCTCATGACAC TGCTGGGACCTGGGCTGGGAACTGAGAGCCTGTGGTCCCTCTGGGCTGTA GGGGTCGGGGCCCCACAGTGGCGGCAGAGCCGGGACCTCGTACACAGCAG CATGGACTCCAGACCCAAGTGGAACCTCCATTCTGGTCTCAGGGTGACCC GGGCTGCACAGCCCAGCACCTGCCCAGGGTCCCTCTGCCCTGCTCTGTCC CTCAATAGTCTGGACCCCTGCTGGGTACTTGCCTTGTCCCCCCCTTACAG GGGACCAGGGTGAATCTTGGGCGAAGCCTGCACCTGTGAAGGAGGCCATT CTCCTTGCTCCCATCCCTGCCGCCCACATGGGGAACCAGCTCCTTCTTGT TCCTGGGGACCTTTCCTGGGCTCTGGTGGAAACTCCAGCGGAATGTGGGG TCTTTCATTTTCCCTCAGTGTTGCAGAGGCCGAAATGGAGAGGGGCTGTC ACTCCCCAGGAAAGGGCACAATCTCCTTCCTTCCCTCCAGCTGGCCCAGG GACGGTGCACACTCTTATCCTAGTCACCCTGAGGACTGCAGCCCTGGTAT GAGCCCAGAGTCACCCCCAGGTTTTATGGATGCCTTACACACTCTGCCCT GGCCTGACCTCAAGAGGACCAGGAAGTGCCCAGTTGTCACTGGGTTTTGC TGCCCTGAGAGAGTCAGGCTCCAGTGCACAGAGGAACGTGTGTGTGCAGG GTGGTGGCACTGTCAGGGGGCACAGCAATCCCAGGGGAGCGTGCCCTGCT GTTCCAGGTTGTGGCACTTATGGAAGATCCTGGGTCCAGAGGCTGGAGTA AAATCGTTCCCACTCACATCTAACCTACCCTGGGCTGGCTCGTGGGAGTC AAAGGCCCAGACAGTGGCTGGCCCTGTCCATCCTTGGCCAGGGAGGGTCC TGGCCTCCCTCTGCGCTGGGGGGGGAGCCCCACTCACCCTCTCTTCTTTC CTCTCTGGAGGCGCTGCCCTGCTCTCCGGCTTGTACAATTTGCTACTGAG AATTTAACTCCAGACAGTATTTTTGCCCCAATTTGCTGTAAACATTTGAG CCTGAGGCCATGTTTGTCATCAGATGAAGTGGTTTACAGATGTGAAATTG TTGTTTGTAGTCTAACATTTCTGGTTTGTAAACCCATCCGTGATGGGCTC CCAGCCCAACCCGCTGCAGATGAGGCCGCTGAGTTTCTGTTGAGAATGAA GACCGGGTTCCCAATTAGGGCAACTCGTCCCTCACACTGCTCCTTACACC CCCATCTTCCAGATCCCAGCCAAGCCCCCTCCACCCAATACACCCCAGCG TCCTTGCATCCAATTAACATCTCAGAGTGGCCACCTTTGCAGAGACCTGG CTGGGGAGGGAGGTCACAGTAAAGACACAGCCTGGCTCCTGTGGGCCCCC TGGGGACAGCAGCCCTGCACACACACTCTGGGCCTTTCTCTCCCCCTTTC AGCCTTGTCCTTGGATATCCCCCAGGTCACTCTTGCTCAGGACCAAGCAG ATTGACTGGGGACAGCAAATGTAACCATAAAAGGGGATTCTACAAGGACT CCCCTCAGGGAGCAGGTGCCAGCGGTGGGGACTGGGGAGTAGATAAGAGG TGGCTGGGAGCTAGGATAAGAGCGACAGCCCAGAGTTCCTGGATCCTGGC TGAGGCTGGGTCCCGGGCCCCAGGACAGTCCTGCAGACCCCAGAATCAGA GACTGAGGAGTCAAAGACAGGCAGGAGACGCCCCTGGGGATGCCCAGCAA AGCACTGTCCCCTGCGTGCAGCTTTCCCGGGTCTCCCCACAGAAAGCTCA GTGAGGGCTGTCGTGGCCACTGGCGACCCAGGCACATTTGCTCCGGTAAG AGGCCATTGCTCTGGGAAGCAGCAGCCACACAGGAAGAGTTGGGGGAGGG CAAGGGCTCTGCCCTCCGAGGGTCCTGCAGGGCACAGGGTCTGCATAGCA GGAACCCCAGACTCTTTGTGCCCCACCCCCACTCTAACTCAGAGCTCTGT GCTAAGGAGAGCCTTATCATGCCCTCGGTGGATTCAGAAGCACTTTGTAG GGCTGAGTGACGAAACATTTGGGGCTGGGAGTAGAGCTGGCTGGGTCAGG ACGACACCCCCTCCTGGAAGGGCAGGCCTGTGGGGGGCACAAGCAGGGAC AACAGCCCATTCGTGTCTGCTGGTACAGGTGCAGTCTCTGTGCAGGTGGG CAGTGGGTACTGCAGGGCACCATGCTGTGTGTGCCTCGAGTGTGAACTGG GAAAGGTGGTCTCTGGTCAGACTCACACAACACACCAAGATGAGCTCACA CCGGAACCACCCGAGACTCAATTGGGAGTTGACAGCCCCCAGGGGATATC CTCTTGACTAGAGAAGTCCAAGGTCTGGAGACAGAATGGGAGGTGGCATC CTCATGGCAGAGAACAGGGCCTCCTCTGGTCTGCCCATGAGGAGTGGTGC CCACCAAGATGGCAGGGACACTGTGCTGAGGAGGGTGGATCACTCCCACC TTCTTCTGAGGTTTCCACCTCAGCGAGCACCGGCCAGGCTGGGAGGGCGA GGAGCTGTGCTTGGTCCGGGTGGCCAGGGTGGGACTGTCCCCAGGATGTG GACTCTCTTGCATGAGACAGCTGGCCAAGGATGGGGGGTCTAAGAGGAGC CAAGACAGGGGAATCAGCAGGACAGGGGGCAGCCCCCAGGCCCACAGGGC CAGTGCATTCTTCGGGCAGCTGTGCTGGGTGCAGTAGGTGGACCTGGGAA AGGATGGCGCCAGACCTGCCGTTGGGACTCAGGGGCTCACTTGGGGCAGG AGCACAGCTTCCCACACATTTCTGCAGGGCTGGAGGTGGGAGAAAGGGCA CAGGGTGAGCCTTCTGAGGGCATTTGTGTCCCTGCATCACTCTGCTCACT GGGAGGGCCTGGGCAAGTCTAGGTACCTTTCAGAGCCTCTCGTATCTCCT CTAGAGGAGTAATGGGGATGAAAGCACCCCTTGCTCTAGTTTGCCGTAAT TAGATGGACTGACACAAACAAGGGCTCAGCATGTCTGTCTCCTTCCCTTC CCAGGGCCTGGGATCAAGACCCAGGACACACTCTGCTCTCTGCACTGCAC GCCCTGCAGGGCCCTGGATGCAGCAGGCATGCCCTGTGCTGGCTATAGTA GGGGACGTAGGGTCGGCTGCTCTGGAGCCTACTCTCTGGGGGCGCTGAGT CTTATTCGAGACCTTTCTCCAGGGTGTGGATACCTGTCCTCCTGCCTGTC CCCTGGCCTCCTGCCTTCCTGGTCCCTGCTGCCCAAAGTGACTGAAGTGT GGCCAAGGCTCGCTTTCCTCATTGTCACTCCACAGCATCCCTGTAGGGCT ATTGTCAGAGCAGGGAAATCAAAACCAATGCTTGTGGGAAGACACAGCAG AGAACTTCCTTATTCTGTGACACTGATGTGGGTGGCACAGGGGACCTGAG TTCAGGAAGGGGTGGGGCAGGTCATTGCTGACCCAGCAGCTTGCGGTCAC TCTGAAGTGATGTAAGCCTCCTGTGTCCTAAGAGCAACCAGAGGAGGACC ACAGGAGCACATGCTGTGACCGTCACAGAAGCAGGAGGACCCTGACCTAG GAACCGTGAAGGGACTAGGACATGATGGCTAATGGCTAACACGGTGCTGA CAGCCAGTCCTGCAGCCTCTCGAAGCCTCTGCTCCTGAGCCTCCTCCTCG GGTTCCTTGG	G G	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01255.hp2 HG01361.hp1 HG01978.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18971.hp2 NA18979.hp2 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2	a0000 a0000	a0000c0004 a0000c0010 a0000c0004 a0000c0010	a0000c0004t0003 a0000c0010t0003 a0000c0004t0003 a0000c0010t0003	a0000c0004t0003g0004 a0000c0004t0003g0045 a0000c0004t0003g0050 others(2): Show a0000c0004t0003g0004 a0000c0004t0003g0045 a0000c0004t0003g0050 a0000c0004t0003g0051 a0000c0010t0003g0004	37	360	0.1028	-5909	c.585 others(12): Show c.585+63_*5675del		APOBEC3A	ENSG00000128383.14	transcript	ENST00000249116.7	protein_coding	5/5						chr22	TogoVar
APOBEC3A_chr22_38952609_38968184	38962391	TCCCTCCC others(5786): Show TCCCTCCCTCCTCTCCCGTCATTGTCACTGTCCCCAGGCCACCTCCCTGT GCCCTCTTTCCACTCTCTCACCTCCTGCTCCATTCAACCCCCCTGCTCTT CCAGAATCAGGGAAACTGAAGGATGGGCCTCAGTCTCTAAGGAAGGCAGA GACCTGGGTTGAGCAGCAGAATAAAAGATCTTCTTCCAAGAAATGCAAAC AGACCGTTCACCACCATCTCCAGCTGCTCACAGACGCCAGCAAAGCAGTA TGCTCCCGATCAAGTAGATTTTTAAAAAATCAGAGTGGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCGGGTGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTC TACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGCGTGAACCCGGGAGGCA GAGCTTGCGGTGAGCCGAGATTGCGCTACTGCACTCCAGCCTGGGCGACA GTACCAGACTCCATCTCAAAAAAAAAAAAACCAGACTGAATTAATTTTAA CTGAAAATTTCTCTTATGTTCCAAGTACACAATAGTAAGATTATGCTCAA TATTCTCAGAATAATTTTCAATGTATTAATGAAATGAAATGATAATTTGG CTTCATATCTAGACTAACACAAAATTAAGAATCTTCCATAATTGCTTTTG CTCAGTAACTGTGTCATGAATTGCAAGAGTTTCCACAAACACTAGCAAAT GTGTAGATGTCTTTCCTTGTGTAGCGGACCTGTAGCGGGGAAAGGTCACA CAACATCCCTCTGGATCCAGAAAACTCAGCTAAACCTCACAGGAGAGGAA CCTAAATGCAGACCCCACCCTCACTCACAGAGCCCCGCCCACCCTCACTT ACAGAGCCCCGGGCGCTGATTGGAAGGGACAGGCCCAGCAGTAAGAGGAC AGCCAGCAGCCAGTCTCCCTGTTGGAAAGGAACCACAAACGTGCAGTCAG GGGCCCTCGGGAGCCGCCCTCTGTCCACCCCTTCCTGATTCCACCCCCCT AGAGAGGGAGCCCAGGGGAGGCCATGGCTGAGACCCAGGACAGGCCCAGT CGGGGGAAGGAGCCCAGGGAGGGGGCAGGTGTCTAGGCTGGGCCCAAAGA GAGGGCTGGGGAGAGGAGCAGCCCAGGAGGCAGAGCCCAGCCACAGAGGG GAGGGGAGCTGAGTCCCGGGGACAGGAGGCTCCAGAGGCAGAGACGGAGC CCAGGGCTAGGGCGGCAGGTGTCAGGGCTGTGGCTTCAGCTTGGCGTCTG TCCTGGGCCTTCTGCGCTGGTTCCCAACTCTGGGATGTGTGACTTATATG CCTGATTACAGCGGCGGCTCCCACCTCACGATTTCTGGAAAGTCCTCAGA AGCCGCATATAAGACCAAGAACGGGCCTCACATGCAGCTGCTCCTGGGCA GAAACGACTCACTGTTTCCCTGGCCTAGACACACACAACACACAAACACA CACAAGACACACATACACACAACACACACAACACATACACACACAACACA TGCACAAAACACATACACACACACACCCACACACAGTGACAGAGACTTCA CACAAAGAAACCTCCTCCAGGTGCCCCAGAGCACTCCGGGGCGCACCCCA GCCCCGCCCTGAGCAGAGGACTTTGGCATTTCCCACGCAGGGGCGGGTGC GGGAGGGACCGGCTTGTCAAAGCTGCCCTTTGCTTGTGTCTCTGGGTTTG ATAACAGTCCTAACTCCACTTGTTGGAAGCAAGTGATGAAAAACGTGCAG TCATTCTGGGCAAAGGGACCAGTGTAGGGGAGGCATGAGAGGCTCACCTG GTGAAAGAACACCAGAGTTAGTCATGTCACAGGGCAGCTCCCAGAGAGAC CTGCCCCTCGTCCCCCAGAACCCCACCTTCCAAGGGCCCAGGCTCCTGTC CCCCGGGCCTCAACTCACAGCTTTGCCCATGACCTGGGAGCCCTGGGGGT CCTGGTGAGGTGACTGGACACAGCCTCATGACACTGCTGGGACCTGGGCT GGGAACTGAGAGCCTGTGGTCCCTCTGGGCTGTAGGGGTCGGGGCCCCAC AGTGGCGGCAGAGCCGGGACCTCGTACACAGCAGCATGGACTCCAGACCC AAGTGGAACCTCCATTCTGGTCTCAGGGTGACCCGGGCTGCACAGCCCAG CACCTGCCCAGGGTCCCTCTGCCCTGCTCTGTCCCTCAATAGTCTGGACC CCTGCTGGGTACTTGCCTTGTCCCCCCCTTACAGGGGACCAGGGTGAATC TTGGGCGAAGCCTGCACCTGTGAAGGAGGCCATTCTCCTTGCTCCCATCC CTGCCGCCCACATGGGGAACCAGCTCCTTCTTGTTCCTGGGGACCTTTCC TGGGCTCTGGTGGAAACTCCAGCGGAATGTGGGGTCTTTCATTTTCCCTC AGTGTTGCAGAGGCCGAAATGGAGAGGGGCTGTCACTCCCCAGGAAAGGG CACAATCTCCTTCCTTCCCTCCAGCTGGCCCAGGGACGGTGCACACTCTT ATCCTAGTCACCCTGAGGACTGCAGCCCTGGTATGAGCCCAGAGTCACCC CCAGGTTTTATGGATGCCTTACACACTCTGCCCTGGCCTGACCTCAAGAG GACCAGGAAGTGCCCAGTTGTCACTGGGTTTTGCTGCCCTGAGAGAGTCA GGCTCCAGTGCACAGAGGAACGTGTGTGTGCAGGGTGGTGGCACTGTCAG GGGGCACAGCAATCCCAGGGGAGCGTGCCCTGCTGTTCCAGGTTGTGGCA CTTATGGAAGATCCTGGGTCCAGAGGCTGGAGTAAAATCGTTCCCACTCA CATCTAACCTACCCTGGGCTGGCTCGTGGGAGTCAAAGGCCCAGACAGTG GCTGGCCCTGTCCATCCTTGGCCAGGGAGGGTCCTGGCCTCCCTCTGCGC TGGGGGGGGAGCCCCACTCACCCTCTCTTCTTTCCTCTCTGGAGGCGCTG CCCTGCTCTCCGGCTTGTACAATTTGCTACTGAGAATTTAACTCCAGACA GTATTTTTGCCCCAATTTGCTGTAAACATTTGAGCCTGAGGCCATGTTTG TCATCAGATGAAGTGGTTTACAGATGTGAAATTGTTGTTTGTAGTCTAAC ATTTCTGGTTTGTAAACCCATCCGTGATGGGCTCCCAGCCCAACCCGCTG CAGATGAGGCCGCTGAGTTTCTGTTGAGAATGAAGACCGGGTTCCCAATT AGGGCAACTCGTCCCTCACACTGCTCCTTACACCCCCATCTTCCAGATCC CAGCCAAGCCCCCTCCACCCAATACACCCCAGCGTCCTTGCATCCAATTA ACATCTCAGAGTGGCCACCTTTGCAGAGACCTGGCTGGGGAGGGAGGTCA CAGTAAAGACACAGCCTGGCTCCTGTGGGCCCCCTGGGGACAGCAGCCCT GCACACACACTCTGGGCCTTTCTCTCCCCCTTTCAGCCTTGTCCTTGGAT ATCCCCCAGGTCACTCTTGCTCAGGACCAAGCAGATTGACTGGGGACAGC AAATGTAACCATAAAAGGGGATTCTACAAGGACTCCCCTCAGGGAGCAGG TGCCAGCGGTGGGGACTGGGGAGTAGATAAGAGGTGGCTGGGAGCTAGGA TAAGAGCGACAGCCCAGAGTTCCTGGATCCTGGCTGAGGCTGGGTCCCGG GCCCCAGGACAGTCCTGCAGACCCCAGAATCAGAGACTGAGGAGTCAAAG ACAGGCAGGAGACGCCCCTGGGGATGCCCAGCAAAGCACTGTCCCCTGCG TGCAGCTTTCCCGGGTCTCCCCACAGAAAGCTCAGTGAGGGCTGTCGTGG CCACTGGCGACCCAGGCACATTTGCTCCGGTAAGAGGCCATTGCTCTGGG AAGCAGCAGCCACACAGGAAGAGTTGGGGGAGGGCAAGGGCTCTGCCCTC CGAGGGTCCTGCAGGGCACAGGGTCTGCATAGCAGGAACCCCAGACTCTT TGTGCCCCACCCCCACTCTAACTCAGAGCTCTGTGCTAAGGAGAGCCTTA TCATGCCCTCGGTGGATTCAGAAGCACTTTGTAGGGCTGAGTGACGAAAC ATTTGGGGCTGGGAGTAGAGCTGGCTGGGTCAGGACGACACCCCCTCCTG GAAGGGCAGGCCTGTGGGGGGCACAAGCAGGGACAACAGCCCATTCGTGT CTGCTGGTACAGGTGCAGTCTCTGTGCAGGTGGGCAGTGGGTACTGCAGG GCACCATGCTGTGTGTGCCTCGAGTGTGAACTGGGAAAGGTGGTCTCTGG TCAGACTCACACAACACACCAAGATGAGCTCACACCGGAACCACCCGAGA CTCAATTGGGAGTTGACAGCCCCCAGGGGATATCCTCTTGACTAGAGAAG TCCAAGGTCTGGAGACAGAATGGGAGGTGGCATCCTCATGGCAGAGAACA GGGCCTCCTCTGGTCTGCCCATGAGGAGTGGTGCCCACCAAGATGGCAGG GACACTGTGCTGAGGAGGGTGGATCACTCCCACCTTCTTCTGAGGTTTCC ACCTCAGCGAGCACCGGCCAGGCTGGGAGGGCGAGGAGCTGTGCTTGGTC CGGGTGGCCAGGGTGGGACTGTCCCCAGGATGTGGACTCTCTTGCATGAG ACAGCTGGCCAAGGATGGGGGGTCTAAGAGGAGCCAAGACAGGGGAATCA GCAGGACAGGGGGCAGCCCCCAGGCCCACAGGGCCAGTGCATTCTTCGGG CAGCTGTGCTGGGTGCAGTAGGTGGACCTGGGAAAGGATGGCGCCAGACC TGCCGTTGGGACTCAGGGGCTCACTTGGGGCAGGAGCACAGCTTCCCACA CATTTCTGCAGGGCTGGAGGTGGGAGAAAGGGCACAGGGTGAGCCTTCTG AGGGCATTTGTGTCCCTGCATCACTCTGCTCACTGGGAGGGCCTGGGCAA GTCTAGGTACCTTTCAGAGCCTCTCGTATCTCCTCTAGAGGAGTAATGGG GATGAAAGCACCCCTTGCTCTAGTTTGCCGTAATTAGATGGACTGACACA AACAAGGGCTCAGCATGTCTGTCTCCTTCCCTTCCCAGGGCCTGGGATCA AGACCCAGGACACACTCTGCTCTCTGCACTGCACGCCCTGCAGGGCCCTG GATGCAGCAGGCATGCCCTGTGCTGGCTATAGTAGGGGACGTAGGGTCGG CTGCTCTGGAGCCTACTCTCTGGGGGCGCTGAGTCTTATTCGAGACCTTT CTCCAGGGTGTGGATACCTGTCCTCCTGCCTGTCCCCTGGCCTCCTGCCT TCCTGGTCCCTGCTGCCCAAAGTGACTGAAGTGTGGCCAAGGCTCGCTTT CCTCATTGTCACTCCACAGCATCCCTGTAGGGCTATTGTCAGAGCAGGGA AATCAAAACCAATGCTTGTGGGAAGACACAGCAGAGAACTTCCTTATTCT GTGACACTGATGTGGGTGGCACAGGGGACCTGAGTTCAGGAAGGGGTGGG GCAGGTCATTGCTGACCCAGCAGCTTGCGGTCACTCTGAAGTGATGTAAG CCTCCTGTGTCCTAAGAGCAACCAGAGGAGGACCACAGGAGCACATGCTG TGACCGTCACAGAAGCAGGAGGACCCTGACCTAGGAACCGTGAAGGGACT AGGACATGATGGCTAATGGCTAACACGGTGCTGACAGCCAGTCCTGCAGC CTCTCGAAGCCTCTGCTCCTGAGCCTCCTCCTCGGGTTCCTTGG	T T	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA19012.hp1 NA19012.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0003 a0000c0004t0003	a0000c0004t0003g0047 a0000c0004t0003g0047	1	360	0.0028	-5793	c.586 others(13): Show c.586-103_*5675del		APOBEC3A	ENSG00000128383.14	transcript	ENST00000249116.7	protein_coding	5/5						chr22	TogoVar
APOH_chr17_66207033_66234415	66226121	CTGGCTGT others(17): Show CTGGCTGTGATACAAAGATAAAAAA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG01069.hp2 HG01069.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0002 a0014c0017t0002	a0014c0017t0002g0107 a0014c0017t0002g0107	1	386	0.0026	-24	c.242 others(34): Show c.242-21_244delTTTTTTATCTTTGTATCACAGCCA	p.Pro others(5): Show p.Pro81del	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/8	280/1174	242/1038	81/345			chr17	TogoVar
APOOL_chrX_84998877_85098315	85054339	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0011 a0001c0001t0047g0011	1	256	0.0039	1	c.241 others(6): Show c.241-3dupT		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
AQP7B_chr2_94582311_94609628	94604251	TCAGCCCC others(55): Show TCAGCCCCCTCAGCAGGCCTCTGCCTCTTGCCTGCAGCGATGGGGAGAAC TGGTGGTGGGTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0169 a0009c0010t0001g0169	1	384	0.0026	-62	c.756 others(72): Show c.756-33_784delCCCCCTCAGCAGGCCTCTGCCTCTTGCCTGCAGCG ATGGGGAGAACTGGTGGTGGGTGCCAG	p.Asp others(5): Show p.Asp253fs	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	8/8		756/1041	252/346		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARAP3_chr5_141648402_141687230	141658466	AGGGTTGG others(9): Show AGGGTTGGGGACACCTG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18965.hp2 NA18965.hp2	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0001 a0021c0032t0001	a0021c0032t0001g0125 a0021c0032t0001g0125	1	416	0.0024	-16	c.341 others(27): Show c.3412-3_3424delCAGGTGTCCCCAACCC	p.Val others(6): Show p.Val1138fs	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	25/33	3499/5258	3412/4635	1138/1544			chr5	TogoVar
ARFGEF1_chr8_67192658_67348781	67251451	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	208	0.0048	0	c.269 others(6): Show c.2699-1G>A		ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	18/38						chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1864360	TCTTTCCC others(5): Show TCTTTCCCAGCAG	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	363	0.0028	-12	c.482 others(24): Show c.482-12_482-1delCTTTCCCAGCAG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	4/28						chr8	TogoVar
ARHGEF1_chr19_41878184_41912452	41904033	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00738.hp2 HG00738.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0089 a0006c0005t0001g0089	1	234	0.0043	0	c.191 others(6): Show c.1918-2A>T		ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	20/28						chr19	TogoVar
ARHGEF38_chr4_105547620_105685914	105656685	ATTATAGG others(5274): Show ATTATAGGCATTTTGGGTAAGACAAATCTTCATGGAGTGGCCTTTTGGTG GAGGATGTTCAGCATTTTTGGCCCACCAGGCTCAAAATCTCAGTAACATC CCCTCACATCAAGACGTTGTGACAACCAGTGAAGAGCCTCACATAATTCC AAACCCTAGGAAGTCATACAGCCCCCGATCTAGTAGAAAAACCAGGCAGG AGCATTTTGCTTTTCTGGCACTGGGGAATGGAAAGTCAGGCTTACATCTG AGCTAATATGATAGAGAAACAGGTCAACGACAGATGAATGGATGGATGGA TAGGTACAGGCAGATAGATGATGGTGATGATGAGATAGATAGATGATAGA TAGATAGATAGATAGATGATAGATAGATAGATAGATAGATAGTTTTTACA GTATATGTTTAATGGAAAAGGTGTGGCTAGTTCTTTATGTATTTTCTGCA TTTAATTATAGAGAGCACACATTCTAGAAGTCTTTAAAGGTTTGCTCTTT AGCTTAGTTCCAATACATTAAGTTAATATATATTTATTGAGTACCACCTG AAAGTGTGATATGTAGCTTCTCCCTCAGCAAGCATGCTCCAGACTTTGAT GGAAAGAAGCCAGAAGTGTCCTGCATACCTTGCATAAAACCACAAGATGA TTAATTAGGCTAAGTTAAAAAAATTGTGAGAAGGCTCAATATAAAAGTAA CTTTTATGGATAACATATATAGAACTCTTTTTAAAAATCAAATATTAAGA ACTCAAAATCTGTCTAAAGGCAGAGCAGTTATTCTTATCTAACCATGAGT AATACATATCTACACTTTTTTAGGACAAAATAATAAAGTCTAATTCTTAT TTGTTCTAACAACAATTCCTAAGTAAAGGTGAATCATTTTGTGTCTGTGA GTCACTGGATATATATATATATATAATACTGTAATTAGATTACCTGTAGA ATCCAGTCAAGTCACAAACATAGTAATTTATCCCAGATACAGTAAATAGA TTCTTTGTTTATCAAGGGACTCATTAAACAGTCTCTAGGTGTATATTGAC TATCTCATAAGCTAGACATCAAATTTAATTTGTGTTGGCTATTGCTGGTG CCAATAAGAGATTGGTTTCCCTCTCCCCTAGATTTCCCATGAGTTCAGAC CAACTTACCAGGGGCCATTTAAGTTAATTAATACAAGCTGCTGCTCAGAT ACTGATTCCCTAGGATAGCTTTCGGGTTACAAAAGAGAAACCTACTTCCA AATTATCATAAAATATCATATAAGCATATATGATAAAGGGTAAAGTAGGG CAGTCAGCAAATGTAAAACAGAAGAGAAATAGAAGAAATTAAATCTAGGA TGATCAGGTTATGTCATGAAGTTGGGCAGTTCTATGAAGTTCATTTTCAA TGACTCAGGCCAAAAAGTGTAAACAATTTAAGACACAGAAACAGCATCAG CTTAATCCTTTAATGTATTTAAAACAGAATGTGTAGGCCAAGGTGAGAGG ATTGCTTGAGCCTAAGTGCTCAAGACCATCTTGGGCAATAGAGTGAGACC GTATCTCTACCAAAAATTTTAAAAATTAGCCAAGCGTGGTGATACATTCC TGTAGTCCTAGCTATTCGGGAGGCTGAGGTGGGAGGATGGCTTGAGCAGA GGCTGCAGTGAGCTGAGAAAGTGCCACTGCACTCCAGCCTGGGCGACAGA GTGAGACCCTGTCTCAAAATTAATTAATTAATTAAAAATAAAACAAGTTA CAACTCTGTGGTCATTTCTGTTTCAAGATTAAAATACCTTTATTAAGGGG TTACTATCTGTATAGGGGATATAATTCCACTATCAAACATAAGCCTCCAG GGTAGCCAGGGATTTGGGGCTGATATGGGAAGAATAGGGTACAGTCTCCT ATGGGATGAACTATATTCCTTTTGCTGCCAGCAGAAGGTGGGAGCGATAT GGTGAATCTTTTACACAGTCTTGGTAGTCAAAGGCTAGAGATTCCCCCCT ACCCTCAAGTGCTGGCTCTGGGATGAGAAAGGAGGGGAATGAGAAAGTGT TGAAGGAGATGACAATGACAAAACCAAAGACTGTAGAGAAAAAAGTGGAG TTATATTTTGGGTGAGCAGGCTTTAACTTTTGTATTCCTCTTCCTGCTCA CTTTTTAGGTTCAATGTTACAACCTAGAGCTCCTGTTTTAAGTCTTTGAA TAGGTTTAGCCAGACACAAAATGATCAGATCCTCTTTTAATCTGGGTAGG TGCTTTCCTGTTTTCTTTTGTGCTTCTCGTGGGGGAAAAGGTAAACCTAT GGATAGCAGAACTGGACAAGGTATGGGCTGATCCTCTCTCTGAAATGGGC TCATTTTTTCTTTTGGCAGGCATCTCACTTACAGAGACTCATCCTGACCC CCTTGTCAGCCCTGCTGTCCTTATTCCCAGGGCCTCACAAGCTCATCCAG AAACGCTATGACAAACTGCTGGATTGCAACAGCTACCTGCAGCGATCAAC GGGAGAGGAGTCAGACTTGGCCAAAAAGGAGTATGAGGCCCTCAACGCCC AGCTTGTGGAGGAGCTCCAGGCATTCAACCAGGCTGCTCGGAAGATTCTG TTGAACTGTCTATGCAGCTTCATTACCCTCCTTAGGGACCTGATGCTCGT GGCACAGCAGGCTTACTCCACACTTGTGCCGGTAAGCACAGCACCAACAC CTAGCTAGCTACCTTGGCCTACTGGATCTGCTAGAAACCACACCCATACG AAAGCCCTGTTCAGAGTGTGCACATGTATGCCGTGTGGTGTGTGTGTATT TATTTTAACTAAATCCAGTCAGATAGTCTCCTGTTCCTTATCTGTCTTAT CCATGGGAAACTCAAAGAGGGTTTCCTAGTTCAGGTTTACTGTGACTTAC ACATTTGTAATTCTTTTTTGGAGATGCCTTTTCAAATACCAAACACCTTT CAGCCTTGCTCCACCTGCCTGATGCAACATTGAAGCTTATCAACAATTTA TATTTTGTATTTTTTTCTGATCAATAGTTCTTAGATGTTAACTGTGACTA TTTAAGATGTGGCTCTAAAAAGAAGGCCATCTCAGCATAATGAAAGATGC AGGATAACATTCAAACCATGCTTTGTTTTGATTTCATTTTTCCCCAAGAA AGAGAAGCCTGGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTAGCTTCGCCTCCCATTAGGATATAATTTTATAATTATTTTCCTGAT GAGGAAGAAAGATATTTACAACTTATATCAACTTTTGAAAAATTAGCTTG GTTTCTTGGCCCTACGTTTCAACTACACTAGTTCTCATCTGAATGAGATG GACAGCTATTCAATGGGTAACACCTGGAGCAGAAATAATTGTCCCTACTT TATTTTCTATTGTGCATTAATTAACTTTTAACTTATACTTTGAATTAAAT TAAATTGAATAAACGAGGGCTATGTTTACAGGGTTCAAAAGCCAAAACTG TGTAAATGTATAATCAGTCTCACACTCATACCTGTTCCTCTAGCATCCCA TTCGCCACTCTCATCCCCATTTTTGTTAGTTTATTTTTATGCATTTAGTG CTTTCTCATGCCAGTAACAATAAATGCAAGTATATATTTTTATTTCTTAA AAGTAAAAAACAGCATATTATATATACCATTCTGCACTTGCTCTTTAACA ATATATTCTGAGAATGCATCTATAATAGTACATAAAGAGCTTCCTCATTC TTTTTTTTTTTTTTGGTGGGGGGGGATGGAGTTTCACTTTTGTTGCCCAG GTTGGAGTGCAAAGGCCCAATCTCGGCTCACTGCAACCTCCACCTTCCGG GTTCAAGCGATTTTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGC ATGTGCCATCAAGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTT TCTCCATTTTGGTCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCAC TCGCCTCGGCCTTCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCC CAGCCTGAGCTTCCTAATTCTTTTTACAGCTTTATAGTAACTTACTGCAT GGCTGTATAATAATGTATAACCATTCCCTTTTTTTAAAATAACTTTATTG TGATATAATTTGTATACCATACATTCCACCTATTTAAAGTATACAATTTG ATTATTTTTAGTATATTCACAAGAGTTGTGCAGCCATTGCCACAACCAAT TTTAGAACATTGTCGTGGCCCCCTAAAGGAACCCTGTACCCATCCACATT TTTTCCTAACCTCCCCAGCTCTAGGCAACTATCAATTTACTTTCTGCCTG TACAGATTTTCCTATTCTGGGCATTTTGTATAAATGAAATCATACAGTAC ATGGTTATTTGTGACTGGCTTCTTCTATTTAGCATAACATTTCAGGGTTT CTTCATGCCTAGCATGTTTCATTATTTCATTCATTTTATCGCCAAATAAC ATTCCATTGTATGAATATACCACACTTTACTTATTCATTCGTCAGTTGAC GGGCATTTGGGTTATTTCCATTTTTTGGCTGTTATTAGTAATGCTTCTGT AAACATTCAAGTTTTTAGTGGATATATGTTCCCATTTCTGTTGATTATAT ACCTAGGAGTGGAATTTCTGGATCATATGTTAACTCTATGTTTAACCTTT TGAAAAACAACCAGACTGTTTTCCAAAGTGGCTGCACTATTTTATCTTCT CAGCAGTATCGACTGAGAGTTTCAATTTCTCCACACCTCTTTATTATTAT TATTATTATTATTATTATTATTATTATTATTATTGTTATAGCTATCCTAA TGGGTGTGCAGTGGTATCTCATTGTGGTTTTTATTTGTATTTCCCTGATC AGCACTGTTTTAAAACTCATTAAATTGAAGTAATAACTTCTATACATTAA ACTGCACCAGTCTGAACTGCACATCTCAATCAATATTTGCATATACACAT CTGTGTAACTACCACCCAGATCAAGATATAATCCCTTTCCAGTTCCCCAT AAAGATCACTCATGACCATTCCCAGGCACCTAAAGGTAACCATTTTTCTA ACCTGTATTACCATACATTGTTTGACCTGTTTTGTACTTCATATAAATGG AATCATACAATATGTATTCTTTTGTGTATTAACCTGTCCCTATTGATGAG TATTTGATCTATTTCCAACGTTTTTTTATTACAAATAATGCCGGGGTCAT GATACGTGGACAGATGTATCTGTAGGACAGAT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02004.hp1 HG02004.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0005 a0007c0019t0005	a0007c0019t0005g0005 a0007c0019t0005g0005	1	186	0.0054	-5281	c.123 others(18): Show c.1233+970_1545+2607del		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF9_chrX_63629967_63790214	63674168	CTG CTG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	168	0.0060	-2	c.816 others(13): Show c.816-3_816-2delCA		ARHGEF9	ENSG00000131089.17	transcript	ENST00000671741.2	protein_coding	5/9						chrX	TogoVar
ARMC10_chr7_103070140_103104759	103092476	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0081 a0001c0001t0017g0081	1	390	0.0026	0	c.529 others(5): Show c.529-1G>C		ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	4/6						chr7	TogoVar
ARMC1_chr8_65597458_65639177	65627435	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	390	0.0026	0	c.-35 others(5): Show c.-35-2A>G		ARMC1	ENSG00000104442.10	transcript	ENST00000276569.8	protein_coding	1/6						chr8	TogoVar
ARPC3_chr12_110429823_110455337	110436200	CACTTCTA others(6): Show CACTTCTAAAACAG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	334	0.0030	-13	c.380 others(22): Show c.380-9_383delCTGTTTTAGAAGT	p.Glu others(5): Show p.Glu127fs	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding	6/7	460/946	380/537	127/178			chr12	TogoVar
ASPSCR1_chr17_81972629_82022406	82016939	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp2 NA19030.hp2 HG02486.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0206 a0002c0002t0001g0207	2	366	0.0055	0	c.147 others(6): Show c.1476-2A>G		ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	14/15						chr17	TogoVar
ATAD3C_chr1_1444689_1475163	1459159	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0120 a0002c0002t0012g0120	1	410	0.0024	0	c.742 others(5): Show c.742-2A>T		ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	8/11						chr1	TogoVar
ATM_chr11_108218067_108374102	108250683	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010 a0013 a0015 a0021 a0023	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0020 a0001c0024 a0001c0025 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0009c0013 a0010c0014 a0013c0018 a0015c0019 a0021c0026 a0023c0033	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(31): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0008t0016 a0001c0010t0031 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0003c0003t0001 a0004c0004t0004 a0004c0004t0005 a0005c0006t0005 a0005c0006t0030 a0006c0007t0001 a0006c0007t0009 a0009c0013t0012 a0010c0014t0001 a0013c0018t0001 a0015c0019t0001 a0021c0026t0001 a0023c0033t0012	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(157): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0009g0238 a0001c0001t0009g0257 a0001c0001t0009g0263 a0001c0001t0010g0205 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0196 a0001c0001t0013g0237 a0001c0001t0013g0276 a0001c0001t0014g0151 a0001c0001t0014g0275 a0001c0001t0014g0279 a0001c0001t0016g0009 a0001c0001t0017g0175 a0001c0001t0018g0001 a0001c0001t0018g0294 a0001c0001t0019g0246 a0001c0001t0019g0253 a0001c0001t0023g0002 a0001c0001t0025g0268 a0001c0001t0026g0190 a0001c0001t0027g0258 a0001c0001t0028g0290 a0001c0001t0034g0152 a0001c0008t0016g0115 a0001c0008t0016g0116 a0001c0010t0031g0031 a0001c0020t0001g0273 a0001c0024t0001g0240 a0001c0025t0001g0274 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0298 a0003c0003t0001g0299 a0004c0004t0004g0168 a0004c0004t0004g0169 a0004c0004t0004g0176 a0004c0004t0004g0177 a0004c0004t0004g0178 a0004c0004t0004g0179 a0004c0004t0004g0180 a0004c0004t0004g0182 a0004c0004t0004g0183 a0004c0004t0004g0184 a0004c0004t0005g0004 a0005c0006t0005g0165 a0005c0006t0005g0166 a0005c0006t0005g0170 a0005c0006t0005g0171 a0005c0006t0005g0172 a0005c0006t0005g0173 a0005c0006t0005g0174 a0005c0006t0005g0181 a0005c0006t0030g0167 a0006c0007t0001g0150 a0006c0007t0001g0156 a0006c0007t0001g0157 a0006c0007t0001g0160 a0006c0007t0001g0161 a0006c0007t0009g0162 a0009c0013t0012g0117 a0009c0013t0012g0119 a0009c0013t0012g0120 a0010c0014t0001g0215 a0010c0014t0001g0281 a0013c0018t0001g0231 a0015c0019t0001g0209 a0021c0026t0001g0230 a0023c0033t0012g0118	160	304	0.5263	1	c.123 others(7): Show c.1236-3dupT		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	9/62					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP1A1_chr1_116368244_116409774	116398906	AGTAAAAA others(16): Show AGTAAAAAATCTTGGTTTTCATAG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0068 a0001c0003t0002g0068	1	336	0.0030	-23	c.229 others(35): Show c.2294-21_2295delAAAAAATCTTGGTTTTCATAGGT	p.Gly others(5): Show p.Gly765fs	ATP1A1	ENSG00000163399.16	transcript	ENST00000295598.10	protein_coding	17/23		2294/3072	765/1023		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5MK_chr10_103384050_103401475	103392467	CTT CTT	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01243.hp1 HG01243.hp2 HG02145.hp2 others(8): Show HG01243.hp1 HG01243.hp2 HG02145.hp2 HG02622.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0047	11	438	0.0251	-2	c.-9- others(11): Show c.-9-3_-9-2delAA		ATP5MK	ENSG00000173915.16	transcript	ENST00000369815.6	protein_coding	2/4						chr10	TogoVar
ATP6V0E1_chr5_172978771_173040445	173031700	TCCCAGCT others(6347): Show TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCGTGAACCTGGGAGG CAGGGCTTGCAGTGAGTGGAGATCGCGCCACTGCACTCCATCCAGCCTGG GCGAGAGAGCGAGACTCTGCCTCAAAAAAAAAAAAAAAAGCTTCCTTAAT TTACTCCAAAATCAGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCGC TTTGGGAGGCTGAGGTGGGCAGATTGCTCAAGCCCAGAATTTTGAGACCA GCCTGGGTAACATGGTGAAACCCCATCTCAACAACAACAACAAAAAATAC AAAAATCAGCCAGGTATGGTGGCACACGCCTGTAGTCCTAGCTACTTGGG AGGCTGAGATGGAAGGAACTTGAGCCCAGGAGGTGGTGGTTGCAGTGAGC GGTGATGGTGCCACTGCATTTACTCCAGCCTGGATGACAGAGCAAGACCC TGTCTCAAGAATAAATAAATAAATAAAAATAAAAATTTATTCCAAAATCA AACCGCATGCCTTTGCCATGTAACATAATGCACATTTACTTTTATTTTAT TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT TATTTTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGAGTCCAATGGTG TGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCATTCTCCT TGCCTTAGCCTCCCAGGTAGCTGGGACTACAGGCATGCACCACTACAGCT GGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGCTGGCC AGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCC CAAAGTGCTGGGATTACAGACGTGAGCCACTGTGCCCGGCCTACATTTAT TTTAAACTGGTATCATTGATCTTGAGTGAAAACTATCCCCCATTTGTATA TGGTTTTTCAAAAGTGAAGGCTTATTTTTCCCTTTTTTGATTGTTTCTTT GTCACAAAATGCCTGTACTATGAAGAAGTCTAATCAGTGTGCTCTTCATG GAAAATTAACAGACAAACCATATGTATTCACTACTTCAGTATTCTCAGAT AAAATTTATTTTATTGGCTGGGTGTGATGGCTCATGCCTGTAATCCCAGA ACTTTGGGAAGCCAAGGCAAGAGGAAACCTGAGCCCAGGAGTTTGAGACC AGCCTGGGCAATATAGCAAGACCCCATTTCTATGAAAAATTTAAAAATTA GCTGGGCATGATGGCGTGGGCCTATAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAAGATTGCTTGAGTCCAGAAGGTCGAGGCTGCAGTGAGCTGTGTT TGTGGCCACTACACTCCAGGGCAGGTGAGAGAGCGAGACTGTCTGAAAAA AATATTATTTATTGATTAGAGACAGGGTCAGGCTCTGTCACCTAGGCTGG GGTGCAGAATGGCATGATCATAGCTCACTGTAACCTCAAACTCCTGAGCT CTAGTGATCCTCCCACCTCAGCTTCTGGAGTAGCTGGGACTACTGGTGTG TGTCATCGTGCTGTAGAGAGTCTCGCTATGTTGCCCAGGCTGGCCTCAGG TGATCTTCCCGCCTTGGCGTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACCACGCCTGGCCTAAATTTATAATCTGCCTGGTACTGATACTTGTACAA AGAGGCTGTTCTGCTGGCCTAAGGAAGAGAACAGAAAATTATCCCTAGAT TAAGTGAAAGATATTATGAGGCTTTCACACTACTACAAGAAACAAGTAGC TCTGGTAATTACCACTCCTTGGCCTGATGTTGTTTTCCTAGTACATTGTA AATATAGTCTGTTTAGGGCATGATGGCTCATGCCTGTAATCCCAGCACTT TGGGAGGCGAGGATGGGCACAACGCTTGAGCCCAGGAGTTAGAGCCCAAC CTGGGCAGCATGGTGAAACCCTGTCTCTACAAAAAAATATAAAAATTAGC CGAATGTGTTGGCGTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGAT GGGAGGATCATTTGGGCTCAGGAGATTGAGACTGCAGTGAGCCGAGATCA CGCCACTGCACTCCAGCCTGGATGGCAGAGCAAGACCCTGTGTCCGAAAA AAACAAAAATAAAACAAAACAAAAAAAAAGATGGTGTTGAATTTAAGCTG CTAGAAAAAGAAAAGTGTCATTTGTCACCTACACTCGAGATAGCCAGAAC GGGGAGCAAGCTACAGGGCAGCCTCCAGTACAAGACCAATGCAAGGAGCC CGCTCCCCAGGAGCCTGGCCCCAGAGCAGAGTTCGCCATGCCTGCGGAAC CTCCCCTCCATGCTATAAGAGGGAAGGGAAAAATACAGACTCTTGAAACT GCGGTGAATTCATTAGATTCCAGCACAATCAATCTCAGTCAGCTTCATTC TTCCTGCTTTCTGTAACATAGAGTGTTACTTGTGCTCCTCATTTCAGCAG TGTCCTTGGTTACTGGACCTTTTGCCACAGCCCTGCAAAACCTGGCCAAA CTTGCACCAAGTTGATTATCCTGTGTTTCATATTTTGTTGAGCATCTGTG CATTTTAAAGTGTTGGCTTGGTTAACTTTCTCGATGTTAACTTTTTGCCT TCCTGAGGAATGTATGAGGACCAGTTACCAGAATGGTTTTGTTTTGCAGG TCACGAGAAGAGAATGCCTTCTAGATGCAAAATCACCTCCAAACCAGACC ACTTTTCTTGACTTGCCTGTTTTGGCCATTAGCTGCCTTAAACGTTAACA GCACATTTGAATGCCTTATTCTACAATGCAGCGTGTTTTCCTTTGCCTTT TTTGCACTTTGGTGAATTACGTGCCTCCATAACCTGAACTGTGCCGACTC CACAAAACGATTATGTACTCTTCTGAGATAGAAGATGCTGTTCTTCTGAG AGATACGTTACTCTCTCCTTGGAATCTGTGGATTTGAAGATGGCTCCTGC CTTCTCACGTGGGAATCAGTGAAGTGTTTAGAAACTGCTGCAAGACAAAC AAGACTCCAGTGGGGTGGTCAGTAGGAGAGCACGTTCAGAGGGAAGAGCC ATCTCAACAGAATCGCACCAAACTATACTTTCAGGATGAATTTCTTCTTT CTGCCATCTTTTGGAATAAATATTTTCCTCCTTTCTATGGAAATCTGGGC TCGGTGTTTGTAAAGTTCATTTTTATAAGCTTTTCTATCGCTACATAATG CCTTTTTAAAAAATGATTTTGTAGTCTAAACTTAGGTTGAGTATATAAAC CCTGCCATGTAGCTTGAGATGCCTGAAAAGACTGGTAAGTGCGTTTCTTA ATCGTTCAGTAACTATTTGAGTGCCTACTGCAGCCAAGGCACTGGAGGGA TCAAAGATGTGTAAATTTGGAGTCCCTGCAAGTTCACAAGCTATTTGGAG AGATAAGGTTAGTATACATAGAACTGTAATATAAGGTTGTGTTGGAGCAT TGTCCTTAAAGATGGTACCATGGTGAGCAGTTCAAGGTTACCTGCCAGCT GCAGAACAAGGCAGCAAATGCTCCTGAGATGGAACCATCACAGCCTCAGA CATAGGACTAAAGAAGTCAAGAGTGATTAAAAAGCCAGGGGCAGGAGACA GTAATTTTGTATTTCAGTAGCAGGCATCTCGATACACTAATTTGAGAGCT TTATTACTTTTAAGAAATTAAAAATTAAAATGAACCTAAATTTTCACCAG CTCATGGCTTTTTGACAGCCAGCCAAGAATGGATTTCCTGTTTTGCAGTT TCTACTTTCTATTCCTCCCAAACTGTCTGAACTCATTACTTTGCTATTCT TATGACCAAAGTGAGTTTCAAGTTGAAGTGACTCTCCTGCTCTCGTTTCT TTTCATTCTTTACTTTTGTTTTGCGCAGTCTGTTAGGCAACTCCATGCTT TACGTTTCCAGCAGGAGGGCCACATTAGCTAATTTCATGGAATACATGAA ACATTGATGATTTGAAGTTGAAGGGGGCTATGGTGATATAGGCTAACCCC ATCATTTTATGGATAAGGAAGCTGAGCCCAGACAGGGAGAATTTCTCGCC CAGCTTAATGCAGTTGGTCAGAGCTAGACAGGGGAGTAAGATCCATGTTT TCTTTCTTTTTTTCTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAG TGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAG CAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCTGCC ACCGCGCCCGACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAT GTTGGTCAGGCTGGTCTCCTGACCTCGTGATCCGCCCACCTTGGTCTCCG AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCATCATACTAT TGTTGAAATGTGGGAATGACGAAATCAGCTCAGGTTTTATGAGAGGAAAC TCGGTAAATTCCCTTTGCTCAGGAAGTCACTTCACCCTTGAGCCCTAGTT GTTTCATTTATTAAATTCTTGAGAAGGTTCAGTGCCATTAATACCTAAAC CCAGGCACATGTTCTCTCGTCACCTCACCCTTAATAGCAGAACTGTTTGT TAACAACATGATTAGGCATCGGAGATGGATGTTGGTGAATCATATTTTCC TGACCGTTGCCACACTCCATCCAGTGTTTGTCAGGGCCCAGACTGGAAGG ACCTCCATTTAGCCCGTTCAGAGGATACCGAAAATGTTCCTGCGCTCCAG AGCCCTTCCAGGCGAACGTCATGTGGCCTCCTGGGACAATCACTAGATTA GCAGAGGTCCTAGGTTTGCCATCTTACTCCCATCACTCGCTAGCTGTGTA ACGGGGCAAATCATTTAATTTCTGACTCTCAGTGTTTTCATCTGTAAAAT AGGGATAATGCATACCTTTTCTACTATACGAAGTTGTTACCAAATGAGAT TTTGGCGGGGAAGGTGATTTGTGAATTATAATAATACATCAAGAGTATTT TCCAAATAAATGACCAAATCCCCAGGGTACACTGACAGTACTTTTCTATT CAGATAGGACCCAGAGGGACAGCCAAGTGATTTTTTTTTTCTACGTAGGG TTACACTTTGGGTTCTTTGTGTTTTGTTTTGTTTGAGACAGAGTTTCGCT CTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAGCC TCCACCTCCCAGGTTCAAGCAGTTCTGCCTCAGCCTCCCAAGTAGCTGGG ATTACAGTAGGCTGCCTCCACGCCTGGCTAATTTTTTGTATTTTTGGTAG AGACGGGGTTTCACCATGTTGGTCAGGGTGGTCTTGAACTCCTGACCTCA GGTGATCCGCCCACCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACTGTGCCTGGCCTATGGTTACACTTTTGATTAGTCATTTGTACTTG GAGGTAGAGGTTTACAGAAAAATAAAAGGCACCCTTATTAGGCCCCCAGG CCTGAGTTCAGAGCCAGAGCCTAAGTGGCTGGACCACACCCTTCCTGCCC TTCCAGGTTCTACCAACTCTTATACCAGGATAGAAGTATTTCTGGCATGA TTTTGAAGATGAAGTGTGAGGATTGATTGGTTTCTTTTAGCACTGTTTTT GTTGTTTTCTTTAAACATATAATGATGTCTAGACGTGTGTCACTACCCCA ACTTAATAATATTTTATCTTTCCTTTGATGTTGCTTCAAAAGTAGCACCT TCTTGTTTAGCCTTTTTTTTTTTTTTTAAGCAACGGTAGGTGTTTGGTCA TGCTGAAGTAAATTTAGAATTTGAGAAATGATTTAAAATTGTTGCCAAGA ATCATGAAAAATTTGGCAAGAGTCAATTGCTCCTTTATTAACATAAATTA TGTTTAAAAATATATGTCTACACATTTTAGAACAGTTTCATACTCCATCC TCTATGCAAAAATTCTTTTTGGTTTGGGAGAATATATGTGTTTAAAATGG AGAGGGAGGCCAGGCGCGATGGCTCACACCTATAATCCCAGCACTTTGGG AGGCCAAGGCAGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGG CCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTGGCCGGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCA GATCATCTGAGGTCAGGAGTTTGAGACCAGCCTGAGCAACATGGAGAAAC CCCGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCT GTAGA	T T	splice_acceptor_variant others(4): Show splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	292	0.0034	-6354	c.37 others(14): Show c.37-2698_*3692del		ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	4/4						chr5	TogoVar
ATP8A1_chr4_42403373_42662105	42480282	CAGATGAT others(9892): Show CAGATGATTATTATGTTAAAGCAAACTATTGGCATTTTATGAAGTTATAA AGTGTATTCAGTGTGTCCTCTTTTAGCTGTACACGTATGAAAGAAATATT CTCTCAACATTTCCAACATTTATTCATATTTTCTTGGAAGCAAATATAGG GTTGACATTCATTAACAGTTTGTAAAAGTCTTTTCAAAGCCAAACATCTG CTTGGCATCCAATGGTGTTCACAAATTTTTTTCCTTAAAGGAATGTCTGT TGAGCATTTATTAGCTTCATTTGTGCTTTATGACTACTTTTTAAGTAGAA CATATATTTAGAGAAATTCTTAAAGCTAAAGACAATCTCTAAAGATTTAA GAAGTAGATGTGCCTTTATTTAATGCACTCATGCTATGACAGCAAATATT CAGTGTCCCTTTAGACTTCTTGCAGGACCCCTTGATAGGAGTAAGGTGAA AGGTTTTGCCTGGAATGCCACTCCCAAATGACAACACTCACTGAAGTCAA GTGTTTTTTTATACACTATGAGGAAAATGGCCTAAAAGGGGGTTAAACTT TGATTAGAGATGTTGCAAGTAGGAAAAAATGCTTACTTCAATTTAACTTT TGCTTTTCAGAAGACATGAGTACATAAATTATGTAGAACGATGATTACTA GACAGTCTAAAAGCTGGAGGCTCTAAGCCAATTTTCAACCAACTGTCACA GAACATAAGTTTCAAAATATGTTTAAACTAAACTGACAACTACAGAAAAA TGTAAAATTCTTTGAAAGGCTGGGTTATGTGAACTGATGAGGACCTCAGA AACCACATGCTATTTAACACACAGTAATACTTCACTGCAACATTCCCACT CTCTTCTGGAGGGAATATTAAAAGAGGTAGAACAGATGCTTCCCCAAATT AAGCTGATCCCAGCAGTAGAAAGACTGTTCCCAGCAGAGTGGCCAACAGA AGGAAGGTCCATCCACAACCTAAAAGGGCTATGAGAGGTCCTCTGGCCCA GCAGCTTTCCAACCAGGACAAGATAACCCAGGAAGGGGGCATGTGTGTAT TTCCCACCCTGCTATGACGAAGCTGGTCCACTTTTATTTGCTTCCTATAT CTGGGTTCCCTGGAAGATAGGAATCACTGATATTCCAATCTCTTCATTTT GTAGGTCACAAAACCAAGGCCAGAGAGATTCCATCAGATACCCAAACTGC CAAATCAGTAGAGCTAGAACAAGCATTCTGTGAATCTCTAGATAAAATGC TTTTATACCAATTATACAGACTGTAGGACCAGGGGGCATAAAGCACTGGT CCCTGAGACTAAGAATTACTTATTTAGTACAGTTACTCCCTGGGATAGTG CTTGATTTCAGCTGTATCCATAAATCTCCATGAGTCTTAGAACAAGCTTT TTTCCCTACGTCTACCTCTCCAAGGAGTTTCAGTGAGTCTGTAAAACCCC TGAAGGGCTTCATGAAATTTTACATGTTTGTGTGCATGTGTACTTCTTCT GGAAGGAATGGTCTATAACTTTCATTTATTCTCCAAAAGTATCCGTGATC ACACCAAATCATGAGAATCAGTGGACTTGTGTGAGGGAGTAGAGGGGAAG AAGAACCATAAAGGAGCAGTTTATAACTGGGAAAATGAATCAGAAACTAT CTATAAATTAGATGCATTCAGGTTATGCAGGTAAATACTCACAATGTTAA AAACAGAAGCTGCACAGTATCTATGAAAGAACAGTAGTTGGCCAGGTGCG GTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGTGTGTGGACT GCCTGAACTCAGGAGTTTGAGATCAACCTGGGCAACGTGGCAAAAGCCAG GCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTACATGCCTGT AATTCCAGCTACTCGGGAGCTGAGGCACAAGAATCGCTTGAACCCAGGAG GTGGGGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTCCACCCTGGG TGACAGAGTGAGATTCTGTCTCCAAAAACAAAAAAACAAACAAACAAACA AACAAAAAAAAAAAAGAAAAGAAAATACAGTGCTGTTAGACTGATACAAA CAGGTTTCATTCCACTTCTTGGGTTTTATATACTTAAGAAAAATATTTGA GGCACAACATTCAACCTATACTTTAGAAACCAAAACCACCAGGACTCCAG AGCCCTGAATAAATTTGGGGTGGGGGGATTAGTTCTGTCTCTGAAAATTT CCTTCAGAAAACAGTGGTGAGAGAGACATAATGTCTGCTGCCTGGGAACA ACTGTTTCTTTCAATTCAGCTGAAGACTCTGGAGGGACAACACTCATCTT TATAACTGTGTCAATGAGGCAAACACTAAAATCTGCCTCATTCTGCCCTG TATGCTGATAGTATCTGGGAAGAAAGTGGCTGATGCAATCCTGATGATGG AACTAACATGGAGACTCATTATCTGTTATAGGAAGGCTTTCCCCTCTACT TCCACTCCACCTAGGGCTAAAGAGAAGACTGCAGAGGAAGATCAGATTCT GAATTATCTGCATGTGTGTGGAATGACAAGCAGTAGATTGGAAAATAGTT TAAATTTGAGAGAAAAGCCCATAAAGCCAGTATGAACATAAACGAATTTG GGAAACAGTACCAAACTGTATTTAGAAATAATAATCAGTATTTATCTGGA GCGTCTATCTTCTAATGGAGTAAAATAGAGAATTTCCTGAGGCCGGGAGA TTGTAATCATCTGAGAAACGAGGAGTGACACTTGGGTTTAATTGGAAAGA ATGATACACAGAATGGCCCACCTATTCCTATCCAGGGATAGAAGCATTAT CATGGAAATTATATTCTGAGGTCAGTAAGCAAAATGACAAGAAGATGGTC TGTGCCAATAGTTTAAATGCCAAGAGGCACCAGGCCAAGAAGGTGCACAG ACATAAATCCGGCAGTGGCACTGATGTAATTATGGGCTTAGACCAATTCT CAAACATGCCAGAAGCTGAACCACAGTCCTTATGGGAAAAGAGAGAGTAT GAAGGTAGTTAGAAGAAAAAAGCTGAGGAAAGATATGTGACTTAAGAAAA AAAAAAAAAAAACCTTAAAACTGGAAATAAAACTCAGTGTCTGCGTAGGG ACCTCATGGTCTTGAAACATGCATAAAACAGAACCGAGGGAGGAAGGGGC CACACACATCTTTATAAGCTCAGTTTCAGAGCTGAGCCGCACGTGCACGG CAGGGTGTGATTCCCTTCTAGGGACCTGGTGCCTGGAGAAGCCCAGAGGT CCATGTGACTTGTGAGCATCCAGAACAAGGATTTCGGGAGGGAATTTCAC AAGCACAGAACATATTTTTTCTCCCTTGACTCTGCTTTCTAGTTTTTTCT CTCCCTCTGCTATTGTTTAATTTTGTGGTTCGACTTTTTGAAGAATGGTG GGAGGTACTGTGTTAAGCAATGCTTTAAGAATGAGGCTCAGCTGCAATCA CTGCAATATGAAAATTGGCCTCCCACATCTTTCCAACCAAACTGTGATTT GACTTAGAAAGAAAGATACATGAAGGAGAGCAGGTATCAAGTGTTACTCA TCTTTTATGTGTCGCACTGCGCCCAGCACACACAAAGTAGGCACATAACA GATGACTCTAGGGAACTGGCCATTTTATCTTAATACTTCTGTATTCTGTT TCATGTTGTTTCCAACTAGGAGCCAGCAATCATAACACTTGTGCTTTTGA GCAATCTTTTGTTGATCCTTATGATCCCATTAGTTAAAGTGATTAAGTGA CCAAATCTGCCACATTATTCTGATGAAAAGTGTCAAAGTTGAACATTAGT CACACTTAGTCAAGACATTTGCAAGGAATCCAGCAAAATCACTGTAAAAG TAAATTTTAAAAAGCATGAGAATACCAAAGTAAAAATGAGTCAAAATAAT TTCCAGTCTCTTTATGATTAAGCAAAGAGCCGGATGACTAATATTAAACA TCTGTACAATATATTGTCCAAGAACTTTATAGTAATATTATTTGTTAATA CATACCACAGAAAAGAAAAAGAAATTATATGACTAAAATAATTAGACTCC TGGGAAAGATAAGCAACTCTTAATTCTCTGAATATGGTATAATTTTATAG GCTAAAATGATGCTTATAAAGGATATTGAGAATAGTTTAAATTATATTTC AGAAAGTATGTCTCAACTGAAATTTAGGAAATGTCTATAAGGTATAGCTT ATAATTCATAAATAATACCATATACAAAATATTTAAGTGAATAAACCCAG ACAAAAGAGGTATAAAAAGCATAACTTTATTAGTAAATGTCTTTTTAAAG AAAACGATAAAAGCACATAGAATAGTTTTAAAGATAATACCAAAAGCACA GATACTGAGAAATCTTTCAGAATCTCTGCTAACATTTTATGTCCCAGGAA GAGAAGGCAATTTGAGAAATTGCTACCCAGGATCTAGACTGATCAACTCC TAAGATTCAATAGTGAATGACAAAGGGGAAATCCTTAGTTTTCATGGTGA TCACAAAAGAGGAGACTGGGCATATTCATCATATTCATGAACCTACTTTA GGTCTTAGGAAGACGGAGTTTAAACAATTTATACGTAAATATGGGGAAGA TTCCTTGACAAGAAACTCAGGAAGGACTGGAGCTATGTCGTTTACAAAAA TGCCTTTCTATGAATTAGGCCTTGATAACTCAAAAGAGATTTTAATTTAG GATATAGGCAATTTTATAAATTAGAGGGCAAAGGAATGTATAGTCAATAA ATACCTCTCAGAAAAATGCCCAGCTATTTGGAAAATGATTCAGTTTGCAT CTTTCATCATGCTATTCCCCCAAAATAAGTCTTAGCAGCTGGATCAAAGA TTTAAATATAGACAACAGGACCTTTAAAGAAAGGACCTAGGTGGAAATGC AGGTAGATAATGAATTTTAAACAAAGATAATGGCAAGAAACCTGTCGATT CAAATGAGGAAAAATACTTGTTAATGATTGTTAGGACTCACTTTTTAAAA CTAACAAATTCCATCCCAGTTTGTGAACCTCAAGTCTTGAGTGAACACAT TAGTAAGTAACCTAACTTTTGTAAACTCTGGATTACTTTCATTGACGTTT ATAAATCAAGAACTTAGATCAAGTCATTCTTTACTAAAATCTGACAATGA TAAGGAGAACTTACCGACAGCAAATGACAGCTTTGCATGACAAAGCTAAG TCCAGGAAATACTGTCGTACTCCAAAGGTTAAGGCATATTTGAGGGTTTT CCCATCAATTATAAGAGCAAAATCATTCTCTTTCCGGAGAGCATCACCAA GGGTAGTACAGTGACGACTGAGAGTTTCCCTTGTTCCCTGGAATATTAAA CAAGCAAAAATGCCATCAACATTTACTCCCATTTGTTCTACTAGGATGCC TTAAGGATATTTGGCAACTACATTTAGTTATTTTTAGTGCTTTTTATGTT TCAAATTGCTTTCACATACTTTCAGTCATTTGATTCTTACTAGCCCCTCA GGAGCCTGCACAATTGTTATCAGAAAAAGTTAGTTACTTGATTGAAGTCA CACATCTGTTCCTAGCAGGGTTGGGACTAGACTATAAGTCACCTGTTTCT CAGGTGATTCTGTAGTCTTTGCTCATTATTCTAACCATCATTGTTTGAAA TGCTTGTTCCCCGGTGCTGTAAAGAAATAGCACTTGAACATAAATTTAAT TTATTTAGTAAGGCCATTTTTACTTTTTGCAGAAAGGGTACACTCGCCAG CAGTTTTGCCACGAGAGTACACTGAACAAAGGAGACAGGGTCATTTATAA CCTGACGCGTTCACCCCACCGCTGTGTCCGGTTTCCATTGGCTGGAATGG GACCTCACATTCTGTATTTGTCCCGATTGGCTAGCAACTTAGAACCTTTT AAAAGAGGCAAAGGTAAAGGAGAACAAAGGAAGGCGGAAGTAACTTGTGG AATGCTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTA TGACCTAATCTTGCTTGGACCAGTATAAGCATGTCGGGGCAAATATTTAG GCTAAATTGTGGGAGCTAGGAACATAAAGTACATTGATTTCTTTATTATG GCTAGCACAGGTCTTTGAATAAATTTTGCTTTTAAGAGAAATTACTATTT ATTCCTAATTAGACGGGGAGGAAAGTCTTTGAAGAGGAACCTCTACTTTA CTTTTTACACGACCATGCAATCACAATACGGCAAACATATTTTCAGTAAA TTCTTTTGTTAAAAATCGTGTTAATTTATGAGCTAGTCAAAGTTGCTACT CCATGAATGAAGGGAAGAAGTTGGGGAATATATGCATCACTTAACTATGT TTTGGTCAACAGACTGAATATCCCATGGTGGGCCCATAAGATTGTGAGAC CATATTTTTACTGTGCCTTTTCTGTGTTTAGATATACAAATACCACTGTG TTACAACCGCCTACAGTATTCAGTACAATAACAGGCTATAAGGGCTTGTA GCCTAGGAGCAATAGGCTATCTTGTGTAGCCTGAGTCTGGAATAGGCTAT GCCATCTAGGTTTGTGCAAGTACCCTCTATGATGTTCATACAATGACAAA ATTGCCTAATGTCATGTTTCTCAGAATGTATCATTTCATTAAGCAAACTG TAATTTAAATAATTTACAGGCATTCTTTCAAAAATCCTCAATGCTATTGA ATTTAACTCCTAGTAACTAAGAGGAGGAAATGCACAATCTGTAAACTCTT GCCTCTTTTATGAACTGGCTTTTGTAATTTTAATCATGATTTCATGATGT TGTATTTAGTTGGGGATGGTGACCTGTGACTTGGTAATCTTGATGGATCA AATAAAAGAACGCCTTCTATCAATGAAGAGTTCACTTTCAGGGACAATAA AAGCCTTTAGTGTCAAGACAGCTTTGTTCACCTCAACTATTTGTCTCCCT TTGTCAAGAACTGCTTTCCCAGCTCTTCAAAGGGATAAAGTTTCAATACA TTTAGTTTTTCTCCCCACATCCTATAGATTCTTCCTATAACCTAATGGAG CCAATTTCCTATTTCACAAGAGCCCTACCGTGGTGAAGAAACACAACACT GGCCTGGCACAAGGAAATATAATGAGTAATTCCCCTCCTATCAGATTTCT GTTCTGAGTGCTAAGCCTACAGTTATTTATAAAATAAATACAAATATACA TATTTATATAATAAAATATACCTACAATAAAAATACAGTACACTTATATA ACAATTTTTATTATGTTCATGGGATTTACAATTATTGTTCCAATTTAAGC ATGTCGTTTTATATATATATGGTCATTTTGTAGTTATTTCACAGAGAAGC AAAGGCATAGGTAATTAAAATTTTATGTTGGGGATTTTTGAAAGTGTTTT TACATTTGTATGCAAATGCGGTTCACACTATGTTCTGGAATATCAGAATC CTTTTACCAAAATAATAGAACCAAGTTGTACTATAAAGAAAGACTGCCCA ACTTTCCTAATGCTGAAGCTTCACTTAACAGTTGCCCTGTTCCCCATTAC ACACAGTGACACAAAGGACCACCATATAGCAGCATTCTTTGCAAAATTTT CTGTTCACACTTTACATCAGGGATGGGGGGAGAGTAGCTGTTTTAATTTA CAAGCCTCACCCTCCTGTTTCCTGCTGGAAATTTTTGGCCCAAGAGGACT TAAAGAAGTGAAAAATGTTGGTAATAAATTCCACAAGCAAAATTTACTAA TGACAATCTATAATAGATATCCCCTGGATTATCTTAACAGCAAATTCATA TAGATTAAATGAACAAATAAGTCAATGAACTGATACAAAATATTTAGCAC ATACTACACACTAAGCACAGTTCTGAGATGCAACACAGAGATGCAGCATT TAAGTTAACACTTGCTACCATCCTGAGCAGGAGGCACTACTGTTATCTCC ATTCTGCAGATGAGAGTGTTTCAGTTCCTTGCTTAAAAATATGTGGCTAT TAAGTAGTGACATCAAAGTGAGAATGAAATTTCTGCGGTAGCCTGTCTTT TTCTATGCAATCCAGCAAAAAAAAAAACAACAAACCAAACTTCAGACAGT ACCAGGCGCAGCAAGTTAGAAATGGAATGCCCACACCAGTCCCTCTGTTG CTTCCCTTGAGCCCTCATCATCTGTCTCTCATCTTGTCTTTACCACCAAC AGAGACATCTCTTTATAAAACAAATTTAAAACACAAATCTTGTCTCTTCT TGCTTTAAAAATTTTCTAGGGCTTTCTACAGCTGACACAATAAAGTCTAA ACTCCTTAAAATGGCATGTAAGGCTTCCTACATTCTGAGCCTAACTTTCC TTCCCAGTGCCCTTCACAATCTTGGTTTCTTTTGTTTCCCTCTTCCTGGA ATGTCCTCCTCTCCAGAGGATCATCTGCTGCCTTCAAAAACCAAGCTTAC CCTGTAAGCCCTCCCAGGTTCAGTCCACGCTACCAAGTGTAACTCATTCT ACTGCAGCAAAACCCTGAGTTTCTTGACAGGAAAGACCGCGTTAAACCTG TTTCCCAGCAACAAAGGCAGTGTCTGCAATTACAGATGCTCATGAAATAC ATATTTATTGAATGAGAGCATTGATAAATTCTGATTTCATCCCGTTGGCA ATGCTCCATTTCCCCCTTTATTATCACTTCTGATTAGAGAAAGAGAGAGA GTAAGAGAGAGACACACACAGAGAGAGGTCTTCTCTTTGCTCCCTAATTT TCCAGGGAACAAATAATCCATTACTTTAACAGACTTTCAAACAAAGGCAT TGCTCACTAAAAAGCCTCTGTATTTTCTTTTAAGCTATTGCCCAAGTGAT TTCTGAGCTGAAAACCTGAAATGAAACCTGAGACGGACCTCAGGAGGACT TCGAATTTCTTGAAAGCTCAGCTGCAAAACAAGACCGAAAGTCAAGTAAA CCCCAGAACTGTGAAACGCCCTCATGAACCAACATAGGGTATGCAGTCCT GTGGTCCCCGCTCTCCCTCCTTTATAAGGCATTCTCTAACACCTTAAAAT TTATTGAAAATTCTCTAAATTCGTGACATCAGTATCCCTAGGTTTTGTTG GTGACTATCACAGATCTCTGGCAAATCAGAAGGTGTCAAGAGATGTGATA GAAATAACATTTCAGAAGGTGAGTCAAAAACTTCTCACAGTGAATTCACT CGTCAGCCCACCTAGGGTGCAAGGTAACAACAACAAAAAAAGCTGCAAAC ATTTTCTCATTTTAGTTTATAGTTTTCTTTTGTAAGCTCTGTTGTTAGCT GTGTGCTGCCAGTTACAAGTTATATTTTATCCTTATTTACTGCCGGGAGT ATTTTCAAATTCTTTTATTTATGAAACTTTATTGCTTCTCCCCTAAGTCC AGGAGCCATACTTTATGGCTGCATTGCATTGAAGCTTATCTCCTGTAGCT AAGGATAAATTTATTACTATATTAGCTGTTGTTTTGTTTTTTTGGCTACT GAAGGGGGAAATTTTTAAATATTGAAACTTAGTGACTTGTAAAAGTGAAA ATATAGCAATGAGAAGCTAAATCAGAAAAAGGATCAAAGACCACAGGCTC AATGAAATAAAAGATCTCTATTTCCTTGTTCTGCATATTTTCACTCGTGG GCTGAAAGTCCAGGAGCATCAGAGACATTGCAAGGTAAAGGCAATCTGGG GAGATGGACAGGTAAGAGGAAAGGCTGGGGTTCAAACACTCAGCCAGGCA AGGGAGGGAGCCACAGTGGAAAGTGAGATTCTCGTGCCCCTTCCCTGACC TGCAGCCTGTGTGGTCATTCTGGACAACCATTCTGCTCTGCTCTTCCCAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0014 a0005c0010t0014	a0005c0010t0014g0277 a0005c0010t0014g0277	1	310	0.0032	-9899	c.215 others(19): Show c.2152-4513_2324+5213del		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/37						chr4	TogoVar
ATP9A_chr20_51591514_51773390	51608628	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	312	0.0032	0	c.263 others(6): Show c.2637-2A>T		ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	24/27						chr20	TogoVar
ATRN_chr20_3466018_3656118	3582133	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	220	0.0046	0	c.254 others(6): Show c.2545-2A>C		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	15/28						chr20	TogoVar
AVPI1_chr10_97672424_97692241	97679916	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00738.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0070 a0001c0001t0002g0150 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0007g0331	101	446	0.2265	0	c.-10 others(5): Show c.-10-1G>C		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	1/2						chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63147647	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	448	0.0022	0	c.971 others(5): Show c.971-2A>C		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding	1/1						chr12	TogoVar
B3GNTL1_chr17_82937149_83056770	82957251	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0008 a0001c0016t0001g0008	1	266	0.0038	0	c.817 others(5): Show c.817-2A>C		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	9/12						chr17	TogoVar
BAALC_chr8_103135725_103235305	103227988	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	332	0.0030	0	c.328 others(5): Show c.328-1G>A		BAALC	ENSG00000164929.17	transcript	ENST00000309982.10	protein_coding	2/2						chr8	TogoVar
BAIAP3_chr16_1328645_1354439	1346751	CGGAGGCC others(94): Show CGGAGGCCCTGTGGGAGCTACTCCTCCAGGCCATTCTGCAGGTGGGGCCA GCGGGGCAGGTGGGGCTGGCCCGTGGTCACTGATGCTGCCCTGCAGGGTG CT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01123.hp1 HG01123.hp1	a0010 a0010	a0010c0035 a0010c0035	a0010c0035t0008 a0010c0035t0008	a0010c0035t0008g0075 a0010c0035t0008g0075	1	358	0.0028	-101	c.264 others(12): Show c.2643-54_2689del	p.Arg others(5): Show p.Arg881fs	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	28/34		2643/3459	881/1152		INFO_REALIGN_3_PRIME	chr16	TogoVar
BDP1_chr5_71450651_71572820	71495239	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00733.hp1 HG02622.hp1 HG03130.hp2 others(2): Show HG00733.hp1 HG02622.hp1 HG03130.hp2 HG03453.hp2 HG03540.hp1	a0016 a0017 a0041 a0016 a0017 a0041	a0016c0014 a0017c0017 a0041c0047 a0016c0014 a0017c0017 a0041c0047	a0016c0014t0001 a0017c0017t0009 a0041c0047t0001 a0016c0014t0001 a0017c0017t0009 a0041c0047t0001	a0016c0014t0001g0004 a0016c0014t0001g0005 a0017c0017t0009g0115 others(2): Show a0016c0014t0001g0004 a0016c0014t0001g0005 a0017c0017t0009g0115 a0017c0017t0009g0116 a0041c0047t0001g0228	5	325	0.0154	1	c.164 others(7): Show c.1641-3dupT		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	11/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BEST1_chr11_61945351_61969461	61955084	TCCACCC TCCACCC	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01496.hp1 HG02109.hp1 HG02257.hp2 others(11): Show HG01496.hp1 HG02109.hp1 HG02257.hp2 HG02486.hp1 HG02622.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0045 others(4): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0045 a0001c0002t0001g0065 a0001c0002t0001g0113 a0001c0002t0001g0128 a0001c0002t0001g0129	14	410	0.0342	-6	c.153 others(17): Show c.153-7_153-2delCCCCCA		BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
BLVRA_chr7_43753680_43812342	43792713	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19075.hp2 NA19075.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0261 a0005c0014t0001g0261	1	414	0.0024	0	c.255 others(5): Show c.255-2A>G		BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	4/7						chr7	TogoVar

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