Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMEM11_chr17_21192954_21219161	21203874	ATCACCAG others(4344): Show ATCACCAGCTGCCCCCTAACTGGTAAGGCCATGGGCTTTAGGAACTGGGT GATCTGAACCCTGGTGCATGGGAGATCTTTTTTTTTCCTTTTTTTTTTTT TTTTTAAATTATATGGACTTTTTTTTTTTTTTTTAAGTAAGAGCTAGTTG GAATCTTTTGAGCCCTGGGCTTCCTAAGGGACTGTATTTTTGCTTTTCAT TGCAGGTGTGAAATGACCAGTAAGAGAGCAATTAATAGAGTCTATGTTTA AAAAAAAAAAAAAAAAGAAAGAAAAAGTGGCCAGGTGCAGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGATC AGGAGTTCGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTGCTAC AAATACAAAAATTAGCTGGGTTTGGTGGCACGTGCCTGTAATCCCAGCTA CTTGGGAGCCTGAGGCAGAAGAATTGCTTGAACGCAGGAGGCGGAGGTTG CAGTGAGCTGAGATCATGCCATTGCACTCCAGCGTGGGCAACAAGTAAAA CTCCGTCTCAATAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGGTAGC AGCAGTAACAGCAAAGTCTCCAACTGAAAGCAAGTTCAGGGGAAAAGGCA GGGTTCAGAAGAGTGTTTACAGTATGCTATACGTAGTGTATTTTTAAAAG TCTCTATTTGCTTTTATATGCACAGAACACTTCTGAAAGGATACACAAAG ACCTGATTTTTATGACTGGTCACTAGGGAGGGAACTGAGGGGCTCAGGAA AGAAAAGGAAGGGAGGCTCTTTCTAGTAAATGACTTTTGATCCTTTTGAA TCTGGCATGATCTCTGGTACTTAAAGATCACTGTCGGAAGTGGGTCTTAA CATATGGAAGAAGAAAAGTAAAAGGATCAGTGTCATGATCCTAAACACAT CATGCCAGCACTGAGGAAGCTTTGGATTCTCTGAGCCTTTAGTGCTGGGA GCAGGGGTCAGCCCGTTCCAGCACCTCAGGGGGACTGCTGCAGACACTGA ATGGGACCGCTCTCTGCCGCCTCAGGATAGCTTGCAGGCACTCATAAAGT GGGCATCTTGAACTTCCTCCCTCAGCCTTCAACCAGAGTCAGCCTTCAGG CCCTCATCTCTCCACTTTTGAGCCCAACTCAATCAGCTCTCGCAGTCAGC AAAGGAATCCCCTGGCAACACTAGCATTCCAGTTAAAAGGCGGCCACAGT GAAAACTCAGCAGGGCAACTCCACGGCCCCTCTGGGATGTGGGCAGCCTG TGCCTGTCCCAGCAGCCACAGTCTGGAGGCGTCTCCCCAAAAGGCAAGAG CCGCACAAGAAGGTTCAGAGCAGAACTGTTCGGTGAGAGCAAAAGATGAC AGGAGCGGGGAGAGCAGAATCGCACCTCCTCCATTAGTGACATGAATCAG TTCCAGTGGCCTGAGCCAGGGATACAACTCTCACACATTCTAAGGCGGCA GAGCTCAGGGACGTGCCACTGAAAGCCAACTATAAGGACAGCAAGGGTGC TGTGGTGCACTTGGGGCACAGGGTCTCCGCTGCAGGAGGAGGCAGGCCAG GGTAACGCTAGTTCTCTATCGCGCTGGGTGGGGAGCCCACACAACTATCA CTTTGCCTTTTTTAAAGTGTGGTAAAATACACGTAAAATATACCACCGTA AGCACTTTTAAGTGTACAGTTCAGAGGCACTAAGCACATGCACACTGATG TACCAACCATCACCACCATCCACCTCCAGGATTCCTTTACCTTCCCAAAC TGAAACTCTACCCATGAAATGATCCCCCCATTCCCCACCAACCCCAAGCC CCTGCAAACTACCATTCTACTTTCTACCCCAATGAATCTGACTATACAAG TACTTCATACAAGTTGGATCATATATAGTATATGCCCTTTTGTGTCTGGC TTATTCCACAGAGCATAACGAGTCTTCAAGGTTCATCCATATTGTAGCAT GTATCCGAATTTTCTTCCTTTTTAAGGCTCAGTAATGTTCCACCGTATGC ATAAACCACATTTTGTTAATCCATTCATCTGTGATGGACACTTCGGTTTC CACCACTGGCTATTGTGAATAATGCTGCTATGAACATGGGTGCACAAACA TCTCTTTGAGTCCCTGCTTTTTTTGGGGGGGGGGTATATATACCCAGAAG TGGAACTGCTGGATCATATAGCAGTTCAATTTTTTAGTTTTTTTGAGGAA TCTCTATACTGTTTTCCAGAGCAGCTGCACCATTGTACATTCCCACCAGC AGCGCACAGGGGTTCCCATTTCTCCATATCCTCACCAACACTTGTTATTT TCCGTTTTCTTTTCTTTTGAGGCAGTCTCGCTCCATTGCCCAGGCTGGAG CGCAATGGCGCTATCTCGACTCACTGCAACCTCCGCCTCCCGGGCTTAAG CGAGTCTCCTGCCTCAGCCTCCCAAATAGCTAGGACTACAGACATGTGCT GCCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTCACCA TGGTGGCCAGGCTGGTCTCGAACTCCTAAGTGATCTGCCAGCCTCAGCTT CCCAAAGCACTGGGATTACAAGTAAGAGCCATTGTACCTGGTCTCATTTT CTTTATTTTTATTTGTTTATTTATTTTGTGGAGACGGAGTTTCACTCTTG TCACCCAGACTGCAGTGCAGTGGCACAATCTCGGAGCACTGCAACCTCCA CCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCAAGCAGCTGGGA TTACAGGCACGTGCCACAACGCCCAGCTAACTTTGTATTTTTAGTAGAGA CAGAGTTTCTCTATGTTGGCCAGGCTAGTCTCGAACTCCTGATCTCAGGT GATCCCAAAATGCTGGAATTACAGGCATGAGCCACCATGCCTGGCCTGAT TTGTATTTTTTAATGGCAGCTTTACTGAGATAGAATTCACAGCTTTACTG AGATAGAATTCACAGAGCAACTCCCCCATCGGAGGTGAACGATGAAGTGG CTTTCCCAAAGTTGTGCAACCAATAGCACAACTGATCCTGGTGCATTTTC ATCATCTCAGAAAGAAACCCTGTACCAATTAGTGGTCCCTTCACATCTCC CCAGCCCTCCACAACCACCAGTCGGCTTCCCAACTCTCTGGATATGCCAA TTCTGGGTATTTCATTTAAATGGAATCCTGTAACGTGGTCTTCAACAACT GGCTTCTTTCATTTTGCATTATGTTTTTAAGGGCCATCATGCTGTGGCAT GTTTATTACTTTTCACATATTGTAAACATAACTTTTGATGTGTTTAACAT ATAACTTTAAAAAATCTAAGATAAGGCTGGGCATGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGA CTTCAAGACCAGGCTGGCCAATGTGGTGAAACTGTGTCCCTACTAAAAAT ACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTGGTCCCAGCTACTTG AGACTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAAGCTGCAGTAA ACCGAGACTGCACCACTGCATTCCAGCCTGGGTGACAAAGTGAGAGTCCG TCTCAATAATATAATTTTAAAAACCCCTAAGGCAAGATATATAAGACAAA GTATCAAAGGTGCTATACATGAAAATAGATCAGGCTAGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACCTAA GGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAATTAGCCAGGTGTGGTGACAGGCGCCTGTAATCCCA GCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTAGAG GTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCAGGGGGACAAGA GCGAGACATTGTCTCAAAAGAAACAAGAAAATAGATCAACAGTGGTTTTC TTTGGATGGTGGCCTAATAGGTGACTTGTCAATTTCTTCATGCTTTTCTA TATTTTTTAAAAAAAAGTGTTTCTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTCAAGTGCAGTGGCGTGATCTTGGCTCACTGCAA GCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAG CTGGGACTACAGGCAATCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACTGTGTTAGCGAGGATGGTCTCAATCTCCTGA CC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01069.hp2 others(2): Show HG00099.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	5	420	0.0119	-4351	c.62+ others(15): Show c.62+5866_63-5035del	TMEM11	ENSG00000178307.10	transcript	ENST00000317635.6	protein_coding	1/1			chr17	TogoVar
NSD3_chr8_38264704_38387271	38365706	CAAGTGCT others(4341): Show CAAGTGCTGGCATTACAGGTGTGAGCCACCGCACCCGGCTTAGATTCTTA TTAAAAAACTAATGAAACCAAAACCAGGAATCAGTCATATAGAGAGGCTG GAAAAAGACAAGGAAAAAGATGATCATCAGGTACTTTTATTTCCTTTGAC GTTCACTCTGTTTCAGAGGCTTCTGAGTTATGGCTATAGTAAAAAGATTT AAATTACGGTTTACTCAAGTATTCCATGTAGTATAAAGTTTAAATCTTAA ATGTTATGTAAACATAACTGATCCAAAATATACTGAAATGGAACTCTCGG GAGGCTGAGGCATGAGAATCATTTGAACCTGGGAGGCGAAGGTTGCAGTG GGCCAAGATCGCACCTCTGCACGCCAGTCTGGGTGATAGTGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAGCTGAAATGAAGGCAATGCATTC TGTATTTAAATCATTTTGTTGGTCGGCAATCTATAGTCTGCTAGTAATTG CACTGATTAAAAGACTTTTAAAATATTCCAGCTTTCAAACAACTATTACT GATAAGTTATAGTTATCTTTCTTTGCCATGAAGAATTTATTTACCATCTA ACGTAGCAAACACACTGGAAAAATGAGATTTTAAACATCTAGCCCACAAA AACACACAAATATAGTAATCACAAGGCAAAGAATGTACAATTATGTTCAC ATCTACTTAATTCTTTTTTTTTTTTTTTTGAGATAGAGTCTCTGTCGTCG CCAGGCTGGAGTGCAATGGTATGATCTCAGCTCACTGCAACCTTTGCCTC CTGGGTTCAAGCAATTCTCTGCCTCAGCCTCGTGAGTAGCTGGGACTACA GGCGCCCGCCACCACACCTGGCTAATTTTTGAATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCATGATCTG CCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAACGTGC CCAGCCTATATCTACTTAATTCTTTCCCTTCACTAAGAATAGCTAATTCT GGGCTAACCACACGTAGCTATTTAAATTTAAACAAGTTAAAATTAAATTA CATTAAAAATTTAGTTCCTCAGTTACAATGGCCATATTTCAAGCATTCAA CATCAACATGTGGCTAAGGTTACCATATTGGTCAGTGCAGATACAGAATA TTTCTGTCATCATAGAAAATTCTATTAGACAGTGCTGATCTACATTATTT TTCAAATTTTACCTTAACAAAAACATCCTTTAAAAGCTTATATTAAATAA GAATTATAAATTTTTAAAGAAATCTGTTAATATTACTGTGATGCTAGAAA GAAGTCACATAAGAGGAAGTTCAGCAAATAGATCTCTATGCCAGAGTAAG ACAAACTCATATACCTAGGGACAAGCAAAATGTCCACAGAGTAGAAGGAT GTACTCTAACATTGGTCTTAGAGTCATAAGACTTGAATTTTAGTTCTGCT TCTACCCCTAACTTAGCTGCATAAATTCCGAGGACAGACAGTATCTTTGG GTTTTCATTTAACATCATAAGAAAGGTTGGATCAGGTGATCCACATATAT AAAATGACCACGAAAAATGGGAAAATGAGCTGTGATTCCTCCTATTATCA ATACATAAGTGTAGGGCTTGAGTTTTCATTCTGAAAAGAATATATATATA TATGTGGTTAAAATACTAACTTTTGGCCAGGTGTGGTGGCTCATGCCTAT AATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGCA GTTCAAGACAAGCCTGGCCAACATGGTGAAACCTTGTCTCTACCAAAAAT ACAAAAATTAGTTGGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTAG GGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCGGT GAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTC TGTCTCAAAAAAATAAATAAATAAAAAACTAACTTTAAATCTCATCTATC ACCTTAACATTATTTAAGATGACCATTATTTGTAATATCAAACAATTATA TGAAATTCACAACCAATACAGTTAGTGACATAGATAGGATTTTAGGGAGT AAAATCAGCATGGCCACGATTCTCTTTACAAAATCCTAGTAAGGAATCAA GGTGTGTTAGAGAAGTTGTATGTTTTCTCTTAACTTTTTTTAAACTTTTC TGAGTTTAAACTATTAATAAAGCAAAATATCTTTTTTTTTTGAGACAGAG ATTTGCTCTTGTTGCCCAGGTTGGAGTGCCCTGGCACAATCTCGGCTCAC TGCAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCA AGTAGCTGGGATTACAGGCATGCACCATCACACCCAGCTAAAGGGGGTTA CACCATGTTAGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACT CGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCA GGCAGCAAATTATCTGTAAAGAATAACTGTGCTACTCCATAATCTGTTTA ACTTTAGCGTTGTCACCTCAAATATTTTCTGAAATGTGTTCACTTTAAAT TTTCCACTAAAAATTTAGAGAAAGATGTTTAGAGAAGGATGATGATTAAA GACATTAAAATATCCTGAATTAGGAAGTAACCTGCGTGAAGTAGAACTTA GTTAACAAAATACAAAAAAGAAAACAACAACAACAAAAAAGTGTTTCATT TAACCATAAATCCTGTCACTAAATTCAATCATACAGTTTTCACTTGACTA TGATTCCATTAAGTTATACAACATTTTAGGTGGCTTTGTAGTTCATATTT TTTTCCTGACTAAACCACATTACTATTGAACTGCCTTTTACCAATACAAA GCTTACTAGTAAAACACCCTGTTTCCCTTATCTATCTAGTTTAACCTCAA CTGTCTTCGCTTTGTTGCTGACCACACCCAGCAACAACAGACATGGTATT ACCACTTGAAGGAAATTACATTATTTTCCAATCCTTTACAGCAAGGGTAG TTGCTCACAATGAAAATTACTACAAACAACTTTCATCAGTCATCTTGTTC CATTCACTATGAAATCTAGTAAACTAACAAGTTCATCCACATATTTTCTT ACCTATTTCCTGGACAAACTTTTAAATTATGGTAAAATGGTTTGAGATTG GTTCTTAAAATTTTGCAAGCATTCAAATTTACTTTCTTTTAGCTTGTATC CTCCATTCCCCCAAAAAAGGCAAAAGAGAATGTATGCCAAAGATGATATG TAGTTTTTAAGGCACTAAGCAATTTATTATATCTAAATAATAATTTACTA AGTTTATCTTTTCTATAAAGACCAGTTTGGGTTTTGTTTTTTTTGTTTAT CGCTTTAGTATTTTAGGTTCAACATGTAGTATTTTAGTATTCAACATGTA GTTTTCAAAATAAGTAATAAAAGTTAGAAAATTCAGAATTTCATACTATA TATCCAAATTTCACATCACCTGTTTGTTTAATCAGAACACCAAGCTTTAG TGAAGCTTTAGCCATCATGAGTTGTAATAAAACAGTGGAAGTAAAATTGG ACTGGAAAGTTAACTTCATGTTCAAACTTGAACCAGCATGAATTCTCTCA ACAATTAAGAAAAACTCATATAACCTAGGCAAAGATTCTCTTCAGGTATT AGTTGATGTTCAACTTTTAACTTCTATGAAAGTGAGTTTAGCCAATTGAG TTCAGTTCTTCTTCCATTAAACATGTGACTAAAGACTAGTTCATTTTGTG TACACTATTTTTCTTCTATTAAAAAAGTTATTCATTATCAACTATGTGTC TGGTACAGTTCTACGCACACTCTAGTACTTCTAATTTGAATCCCTGTAAC TCCAAGAATAATTTTCATTTGCACTTTTAGAGATAAGAACACTGATCTTC AGTGGTAAAGTGAAGTGGGGATAGGAACTCAGATCTCCTTGACTCTTGCC CTATACTTCACTGCCCTCCCAGTTTTGTTTTTTGTTTTTGTTTTTGTTTT TGTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGC ACGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGACTCTCC TGCCTCAGCCTCCTGAGTAGCTGGGACTACACGCGTGCACCACAACACTG GCTAATTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGACCAGG CTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCA	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	224	0.0045	-4348	c.-45 others(19): Show c.-45+11745_-45+16092del	NSD3	ENSG00000147548.17	transcript	ENST00000317025.13	protein_coding	1/23			chr8	TogoVar
STK17A_chr7_43578108_43632379	43585274	ATTACAAA others(4340): Show ATTACAAAACGAATGTCTTCAGGTGGCAAGCACTGTCTTGGAGATGTTAT AATCTGGAAACTGATTTGCACCCCACCAGGTGTTATGGTACCAATTCCTT CAGGAATGTTTCTTTCAACTTTTGTTTTAAACTCCATTATAAAATTAGCT TTCCGATCAGGTTTTTTTTTAAGATTGTGATATCTTCTACATATCTTTTC TTACATAAATTTCTTTACAAAAGGAGTAGATTGTAAAGCTGCATAACAAT GCAGTTATTAGATAAATACTTGATATAAGAGCCTGGAACTGAAAAATAAA ATTAAATCTATTCTTTCCCTTGTGGCACCCTTTTTTATCGCATAGGAGTT TAATGCAGTGCTTAAGAACATTGGCTTTGGAGTCAGACAGTGTGAGATTG AATCTTGGCTCTTACTAGTTATGTGGACTTGAGTGCATTACCTAACCGTT TATTGCCTCATAGGGTTGGTGAGAGAATTAAGTAAAACACATAGCCTTAA GGCTGTGCTTAGCTTAGGGGAAGCACTCAATAAATGTAATTCATGGTGTA ATTCAATAAATGTTATTATTTTAAATGTAACCCAAAAAGAAAACCTGCAC AATCTCAAAAAATGCCTCTATGTCTGGCAAAAGTAATGAAGTCACAGGAA CTGTTCAGAAGTCTCAGGAAGGAAAAGTTCTGTTTGTGTATAAGCAGTCC TTGTTTAAGTTTTATAAACTTTGCCTGTATTTATGGTTTTAACATAGCTA AGTGTGTCTCTGCTTCATCTTTGATAAGATAGAAAACCTATTTTTCCAAC AATTAACTCTGGTTGCATTTCTGATATAACTAATTAATCTCACGCTGATA AAGAACTTGGAGAATACCCGTGTTAATAGTTTAATGATGTGGGAAGAAAA ACAGATTTTTTTTTTCATTTTATTCTATGGCCTTTCATTTAGTAAAATGC AGAAGGGGTGTGATGAGTTAACTGTTCAAACAAATCATTCTTTTTCAGGT GCTACTATGTTATCACAGATCTAAAACTTTCAATGAGATGACTGTTCAAA GAGAATTTTTTAAATGGTCAACATTGATTCCAGAGTAATGACAGGATGTG ATGTTGATCATTTAAGAAATGTTGCATTCTTTCATGTCTCCAACAGAGTC CATAGCAGCGTAAATAAGGGTAAATATATGATGTAAAACATTCTTTTATT GCTTGAAGCTTGACTGGTTAAGGCTTGTTACCTTTCTTTGAGTCAGGATG TATGCCAATGTAAACCACATTAATGATTTCGTTACTGGGGCACACAAGAG AAATGACCTTGGGTTCTGATAATTTTTTCGTGTTGATTTCCCTTGAGTTT ATTGATAATATAGAAACAGAAAGATGTTTCAAGGAACTTAAAGATAACAC CAGTTTCATAGCAAATGATTTGCCTTACATTTGTTTTCATTATCTAGTCC TCAACTTTAATGTTTTTAATATACCGATAAATTTTTTCTTAAGAAAAAAA TATTTTAAGCCAAAAGAACACTTTAAAAATATTAGTACATGCTAATAGTT GGATTTTCCTAAGGAAAAAAGTTACAAATACAAGTTCCCATCTGAAACAG GTACTTTATAATGTGCAGGCCTTACAGTTTTACAAGTGCTTTCACATGCA TTATCTCATTGATTCTCACCACAAGCCTGTTTGGAAAGCCCCATTTTTCA GATGAGAAAACAAAGACAGATTTAAAAGTCTTGTGAGAGATAACAGAGCT GGGACTCCTGACTTTGAAATCATTCCCATTACACCACACATGTTTTTCAA AGAATAATTTGTAGTCTGTATCTTATGACTAAAGCAATTTCCTGTCATTT TAATGAAATGATATGTTTTTATTGTTTTTTGTTTTTTTTTTTTTTTTTTG AGATGGAGTCTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCTC AGCTCACCGCAAGACCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTATAGGCGCCTGCCACCATGCCTGGCTAATT TTTTGTATTTTTAGTAGAGACAGGGGAAAGGATCTGTTAATGAGTTCTAC ATTGGAACAAACATGACCAAGCTTCAGTGTCATATAGTTAAGTTCCCACT GGGGCCTTAAAGTAAATTAGGGATGTCCTATCTCATTCTCCTCAGAGCAG TCAGGGGTAATAGGGACAAGAGAGGATTTTTATCAGAGAATAAGAGAATA TTCAAACTGAAAGGGGACTCTGGGTGGGTATTTTGGGGACTGTGTGTCCT TACCTAGATTGATGGCTGTAGGTAATAGCTTCAGTTTTTGTATCTGACAA GAACTTAAGCGTGTGTCATAAGTTATCATTTTTTAACAAATAAAGACCTT TATTAAGTAATATCCATGCAGAAATTGCTTTGTTTTAACACAGATGTTAT TTAAGATTTCTTGACAGCTAGTCATTAGTTTGAAGAATTTTATTTACAAA CAGTTTTGGGTAATCTGATACTTTGGATAGATAAAAGAAAATTGGCCATA TTTGTGGTTCAACAATAAAGTTACTTGGAAAGTATGGCTTCTGCTCTTAG GCAGGTACTTTAAGTCAGTCAGCTGTTTAATTTTGAAAAGTTCATGCTTC AAATGTTAAAATCTTAATTTAAAATACATGAATGTAAGAATTTGAATTTT AATCTTTTCATAAAACCATAGATGACACAATTTTATAAAATATGATTATT GAACCAAATGCATTAGAAAGCTAAGTAGCTATAGTCACCTCTTCAGGTAA GTAAGAAGTTAACTAGATTTCTTGAGAGAATTTACACATTATGTAGACTT AATAGCTCACCTCCAGAACTCCTGTTCTGATATTTTTTTTAAATTATTAT CATTGGTTATATCATAGATCTGAAATTAATGCCAAAAACAATAAAAATAG CCACTGATTATTGATCATTTGCTGAATGCTACACACTTTAAAGATGTAAT TTTGTATAGTCTTCACTGCCCTGTATGGTAAAGTGCCATTGATCTCATTT TACAGATGAGGAATCCCAGGTTCCAAAGGATTAATAAATTGCCCAGTATT ACACACTTGTTAGCCAGAATTTAAAACCAAGTTTGACTTGTAAGGCCCTG CCTTTTCTTATCACGCATGCTAATGTCTTATTTGAATGGACTCACTGATT TTTACGCCTAGGGTCTTTTCCTTGGTCCTTTCAGCGATAAGGAAGACAAA ATCCATTCTAGGTTTTTCCTGAATGGAACTTCTTTACGTTTAAGACATGG CTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGCGGATCACT TGAGGTCAGAAGCTTGAGAGCAGCCTGGCCAACATGGTGAAACCTCATCT CTACTAAAATTACAAAATTAGCTGGGCACACACCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCGGGAGAATTCCTTGAACTTGAGAGGTGGAGGTTGTG GTGAGCAGAGATAGTGCCACTGTACTCCAGCCTAGGTGACAGAGTGGGAC TGTGTCTCAAAAAAAGAAAAAAGACATCACTCCAGTGTAATTAGGCAAAT ACTGTACTTATGTATCAAGTACATAAAAGCACTACCTTAGGCTCTGGAAG CTATTCCCAAATGTAACAGATCAATCACTGTCCCCTTTATAGGCAAGATG ATATGCCACTGGAAGGTCTTATGGGGGAAATAACATTTCAGTTGGGCTGT AAAGAATGGATGGAATTTCAGTAGTAGTTGCCATTGTCAATAAAACAGCA AGTCAGAGCAGTAGAAAAATTCAGTGAAGAGAGAATGGCAAGTAGTCCAG TATATTAAATGTCATGAGGTTAAGTTGCCATAAAACTTTTATTTAACAAA ATAATAAGCAGTATATATACTAGGTGTGCTGATTATATTTGCACACCTGC CATGTGCAGGGCACTATGGAGATAAAAAGATGAAGAATAAGTGAGGTCCC TGAAACTCACAGTCCAGCTGGGAGACATAGTACAACAAGTTGTAATATAT AAGATTGACATAAATATAATAAAGGTATAAACAAAGCACTTTAACCTAGA ATAAAACAGGACCTTGGACATTATTTTACTTCCCCTTTGTACTGCTCAAA TTAGCATGTGCATTTTCTGATGTTTACCTGAATGTTATATATTCTATTAT CTCTTCACCTTTGCTTATAATCCAACACTTGAATTTGTATTTGGAATCCC TTCAATAAATGGGATTCTCTTTACCAAAAAAGGCAGCTCAACCTTCTGTC CAACTATAACTCCTACCACATTACACAGTACTATAACTGGTACCACAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	390	0.0026	-4347	c.206 others(17): Show c.206+1831_206+6177del	STK17A	ENSG00000164543.7	transcript	ENST00000319357.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
MREG_chr2_215937584_216018551	215970483	GAGCCATC others(4339): Show GAGCCATCCATGAAATATGAGTTTTTCTACTTTGAGACTTCTGCATCAAA GGACTGTGACTCAAGCCTCTCTAACAAGAGTCTCTTACTCATCTGCACAG CCATACATGCACAAGGGCAGCAGGGAAACAGCATGAGCTCTGGGTCTGAG TCTGAGCTTCACCCCTGACTAGCAAGTCATTCAGCCTCTGTGACCTCAGT TTTACGAACTGTAGAGTGGAAGACACTTGCCTGCCAATGCCACAGGCTTG TAAAGCTCAAACGTTACACGAGAAAGCACGCTGCAAAGAAAAGTGCTGTA CGAATGTTAATTATTAGGATAAGATGATCACAGCTTCAGCTGCTACAGTG GGTTAAAAATAATACTGATATTTACAATAGCAAAGACTTGGAACCAGCCC AAATGCCCATCAATGATAGACTGGATAAAGAAAATGTGGCACATATACAC TATGGAATACTATGCAGCCATAAAAAAGAATGAGTTCATCCATGTCCTTA GTAGGGACATGGATGAAGCTGGAAGCCATAATTCTCAGCAAACTAACACA GGAACAGAAAACCAAACACCACATGTTCTGACTCATAAGTGGGAGTTGAA CAATGAGAATACACGAACATGGGGGTGGGGAGGACATCACACACTGGGGC CTGTCAGGGGATGGGGCGCAAGGAGAGGGAGAGCATTAGGACAAATACCT AATGCATGCAGGGCTTAAAACCTAGATGACGGGTTGATACGGGCAGCAAA CCACCATGGCACATGTATGTCTATGTAACAAACCTGCACATTCTGCACAT GCATCCCAGAACTTAAAGCAAAATTTAAAAAATAAGAATAAAATAGTGAC AACTGCTATCCACGCTTGGAGGTAGGAGTTCAATAGAAAATCATCATTCT GACACATGTCAGCATTTGCCCTCTCTCTAGTTTCCATGTACCCTAAGGTG CTTTTTATTCCCCAACCATCACTTCAAAACAGGTAAGCGGTAAATACTAT GTCATGGATCAAAATATTAAGAAGTCAATGAAATTCTATGTTTTTGGACA CCTAGCAATCAAAAGCCTAGATCTATCTGGTCCTGAGCCAGTTCCTCCAG ATGACTGGATCTTGCCCTGTGTCAGATGAGAAGTTCGCATAAAGAAAGGT ACAGGCAGAATAAGGTAGAATATCCTGGACAAGCTGAATGTAGAAAAACA TGGATCAAAGGAGCAGAGGTCCTGCCTGCTTCCTTTCCTGTGTGTGTTAC AGGGCCCTGCTCTCAACTTACTGTAGCTGGGAGAAGAGTCCAAAGCAGCA GAGACAAAAGAGCAAGAAAAGACCTTTCAAAACTAGGGCAGAGGAACAGG TAGAGTGAGTATATGAAGGACAGTCTGTGTTTCAACATCAACCAAGGATC TGCCAGCGAGAAGGGAGATCATTTCTCAAACGCACTGCCTTACCTAACCC ATCAGATGGGAAAGACATTCCCGGCACCCGCAGTTAGTTGCCCGATGGTG CAACTCCAAGATATGCCAGGTGCTGATTGCCAGCTCATGCCAGGGATCAC CCCCTCTAGACCATTCAGTCCTTGGGCTCCACAAGATCGTTTTGGACAGG AAACCACCTGGATGGTCCAGTGCCGTGTCCTCTACCTTCAGGACCCTGTC TCCTTCCTAGGAATCCTGGATCCCAAGCCTCTGGCAGTATTTCTCAGATG ATGAGGCTGCTCCAACTCCAACGTGGGAAAGACCAAAAACTTCAGCAGCA TTATCCAAAGGTTATCTGGAACTCCAGCAAGAAAGCACTGAACTGGCCTA TTTAGAAAACCTCTCCTCTCCATAAAAAATTTAAAAAGAAAAGGAGGAAT AAGAAGATAGGATTAAAAAGAGCTGTGAGGCCAGGTGCAGTGGCTCACAC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGTGGATCACTTGAGGCC AGGAGTTAGAGACCAGCCTAGCCAACATGGTGAAAACCCATTTCTACTAG ATGTACAAAAACTAGCCAGGCCTGGTGGTGCTTGCCTGTAATCCCAGCTA CCTGGGAGTCTGAGGCGAGGTTGCGGTGAGCCGAGATTGTGCCACTGCAC TTCAGTCTAGCCAATAGAGTGAGACTCTCTCCCAGAAAAAAAAAAAAAAA AAAAAGGATAGAGGAAGCATTTTGGGATATGGATATGTTCATGACCTTGA TTGTGGTGATGATTTAATGGGTGCAAAAATTATCTAATTGTACATTTTAA ATATATGCAGTTTATTGTATGTCCATTATACCTCAATAAAATTGTTTTTT AAAAAACAACAACAACAACAATTCCCTCAATTTCACCAATTACGATGAAT TGGGGTTTACAGGTTCCTCTTCCAAAATTGGAGAGCAGGTTAAATTCATC CGCCATTCACACCCCTCACTGAATTCCTCTGGTTGTCTCCTAATACCTGC TTTTTAACAATTCCCAGGTGAGCTAAGCCTAGGTAGAGTGAATGGACATG TAACTGGGTGAAAAGAAGGGAGAAAAAAATATGAGTGTTGGGGTCCTTTG GGGGTGAGCCAGACTTGGTAAGGAGCAACCAAAAGGGGCACAGCCAGAGG ATGATAGGGCAAGAACCCTGGAGGCTGGATGACCCTGGAGAAGGGGCCCT TCGAGAGTTAAAAGGAGAGCCCAGGACAACAGAGGGAATGACCTTGCATG CAAAGGCAGCCCACCTTGCTGGTTACAAATACCTCTTTGGGTAGCTTCGT CCTACTCCAAAGCCCATTCCCTCCAAACTTCTGCCTGGACAAGCAAAGAG ATAACGGCTCAAGAGCATGTACTGCAGTCACTCCCCATTGAAAGCAACGC TGAAACCTCATTAACATTAAACAGATAACACCACATGCAGCATAAGATGA CAAAGAGCATTTTTGAATTTATTTTTGCAGACTGCCGAGGCCGGATTCAA AGAGTGGACACCCTGTCCAGTCCACAGTCCACAGGCCTCTCCCTCCTTAC AAGCTGTTGCATGCCCACTCCCAGCTATCCTCCAACTCCCCCAAATGTTA AGTGATTGCTGGGAAAGAGATTGGAGCAAATGGATAAACGCAGGTCCCTG AGGCATGTCCTGGGCTTTTCAACAAATTCAACTGCAGTAGATTTTTATCT CTACCACTTCAACCTGTTTTCCAAACTTTCTGGTACACTCACCAACGCTG GCAAAAAAGAAAAGAAAAGAAACTAGAACAGATTAAAGTACATTCAGTTG TACACTGGAACAAAAAATATTTTGGTTGTGCTGCAACAGGCTGACTCCCA TCACAGCCCTCTCTGAGGACAGCCTAATACCTGGGCCTGGTTAACCATCA AAGGCACCTGAACCTTCTACTTCTTAGTTGAAAAATGCAACTCCACAGCC AGGTCTGGCAATCTGTGGCTCCAACACACTTCTTGCATGCTTGTGGCCTC CTGCTGCAAAACATGTTTTTTATGGAAGAAGAAACTAGGTTAATTTGCAC TCGGGTCCATTGAAAATCACCCCATGTTAAGTGCTTTATTAACAACAAAG ACAACAGCATATTGGTAAAAGAGCTTGGGTGTGACTTTTCCTCACCTAGA TTGTAATTCGACATAGCAATTATTTCAAGAGGGTGTGCCCAGCTTGTATT CATTTGCTGTGTGGCCTGCCTCCTAGATTGCAAAACCATAAAATGACACA TCTCACTCCTGGGCTGTAAATAGCATGACCATGTGTAAGGATTATGTAAC AACAAGTATCCGGGGACCTGGCACCCAAAGGAAAGGACTGTTTCAGGTCA AGAAAAATACGGTCTCTTTCCAGAACACTGGATTTAAGTCTGAGAAGCAG CAGGTCTCAGCCCACATCAGAACTGGGCAGGTGCTCCCATTTCCCCACAT ATTCAATTAAAGCCAGAAAGCAAGCCCAGTGTTCTTATGGAGGGCTCCTC AGAACCCTCCTCGATGCCCCACCTGAGCCCAAGCATGTCAGGAGGTTCCA CTGCGTCTGTATCTGGGACTCTCCTGGGCTCCATGCAATTAAGAGCCATT TTTACTGTAAGAGGAGCCAGACCAACCAAGGGAAGAGGCAGGGCTAGGAG TGGTGGTGAGGGCACAGTGGTGAAAAAGGCAACACACAAAGATCTATTAA TTAGCATGTGACTTTACAGGCAGGGGAGGGGAAGACAGCTGCAAAGAAAG GTACTGATGTAAAGGAAGAATCTTAGACCCTTGGAAAGATAAATGCTGAC CAATGGCTTCATCGCCTTTCTGCTTTATCTACTCTGGTGAAATTCCTCAA AGCCTGCTCCAGTTCCTAAACACAGACACAGACACACACACAGACAC	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0390 a0001c0001t0027g0390	1	414	0.0024	-4346	c.255 others(19): Show c.255+21477_256-23371del	MREG	ENSG00000118242.17	transcript	ENST00000263268.11	protein_coding	2/4			chr2	TogoVar
SLC35G4_chr18_11604596_11615612	11611275	GCAAGTAA others(4330): Show GCAAGTAACACCAGGAATCTCTGGATAACATTGGTACATTGTATCAATGT CAGTATCCTGGTTGTGATATTACAGTCAACCCCCTGTAGCCTGAGGTTCT GCATCTACTGATTCAAACAACTACAGATGGAAAATATGTGAAGAATAAAG CAATAAAAAATAATATAATCAAAAACCAATACAGCATAACAGCTGCCATA CATAGCCTTGACATTACATTAGGTATTAAAAGTAATCTAGAGATGATTTA AAGTATACAGGAGGATGTGGGTAGGTTATATGCAAATACTATGCCATTTT ATATCAGGGACTTGAGCATCCATGGATTTTGGTATCTGCGAGGGTCCTGG AACTAATCCTGCTTGGATACTGAGGGATGTCCCTATAGTACAACTTAGCA AAATGTTACCATTGATGAAAACTGGGCAAAGCATACAAATGATCTGTATT ATCTCTAACAATAACATATAAATCTAGGGCCGGGCGTGGTGGCTCACACC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGATCAGG AGATTGAGACCCCCATCCTTGCTGACATGGTGAAACCCTGTCTCTACTAA AAATACAAAAAATTAGGCAGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCT ACTCCGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCAGAGTTTGCGCCACTGCACTCCAGCCTGGGCGCCAGAGTGA GACCGTGTCTTAAAAAAAAAAAAAAAAAAGAACAAAGTACCAGTTAACTG TAGGTCTACATCAAGCCATCTAGTAAACATACCATTTAATTCACAAAAAA AAAGTGGAGCTCTCTGACGGGACATAAAAAATACGTTAGCAAGTAATGGC CAAAAATTTTCTAAATTTCATGAAAACTATTAACCCAGAGATCTAAGAAG CTCAATGATGTCTCACACCCCTATGGGTCTTTTCAATGAAAACACAATGC CATATTGGCATGAAGGTAAATCTATAGATCAATGAAATGTAAAAAAGACT CTGGAAATAGAAAATTGGAGGCAAAGTAATGTGGAAAAGAATAATCTTTC CAACCAATGCTGGATTGATAGAAAAGCTGTATGCAAAAATAAATGAATAA CTCTCAACCCTTACACTTCACACCATACACAAAAATTAACTTAGAATGGA TAAAGGATCTAAAGGTAAAACTAAAAACTGTAGAACTTCTGGAAGAAAAT AAATTCTTAGTAACCTGTAAATAGCATGGGTTTCCTAAACAGAGTATCAA AAGTTGGAACTACTACAGAAACAGAATTATAGACTTCATTACAGTTAAGA TCTTTTCATCTGCAAAATACATTGTCTCTCCTCTCTGTCTCTATGGACAT GCCTATCTGGATATTTCCTATAATAGGAATAACAGCGTGTGACCTTTTAT GACTGGCTTCTTTCATGTAACATAAAGTTTTCAAGTTCATCCATGTTGCA GCCTGCATCAGTGCTTCATTTCTTTTCATGGCCAAATAATATTCCACTGC ATGCATACACTACATTTTATTTATTCATTCATCTTGATAGACATTTAGAC TGTTTCCACTTTTTGGCTGTTGTGGATAATGCTTCCATGAATATTCATGT ACAAGTGCCTGTGTGCACCTATGTTTTCAATTCTCTTGGATTTATGTCTA GAAGTGGAATTGCTGGGTGTGAACACCATTTCAAATATTGTTGAAATATT GTATTCACTGATTTATGTAATAGCTATTGCTGTGAAAAGATTAAAGCAAA AAGTGGAAGCTGGCTTTAAAAAAAAAAAAAGAAAGAAAATGAAAAGACCA GCCAACACCTCTGCACGGCTGCCCAGTCTGGGATGTGAGGAGCGCCTCTG CCCGGCCAACCCATCTGGGAGGTGAGGAGTGCCTCTGCCCGGCCGCCCCG TCTGGGATGTGAGGAGCGTCTCTGCCCAGCCGCCCATTGTCTGGGAGGTG AGGAGCACCTCTGCCCGGCCACCCATTGTCTGGTTGGTGAGGAGCGCCTC TGCCCAGCCGCCACCCCGTCTGGGAGGTGAGGAGAGCCTCTGCCTGGCCG CCCATCGTCTGGTAGGTGAGGAGCACCTCTGCCCGGCCGCCACCCCATCT AGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATTGTCTGGGAGGTGAGG AGCGCCTCTGCCTGGCCGCCACCCCATCTGGGAGGTGAGGAGCGCCTCTG CCCAGCCGCCACCCTGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCGCC CATCGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCACCCATCATCTGGT AGGTGAGGAGCGCCTCTGCCTGGCCGCCACCCCATCTAGGAAGTGAGGAG CGTCTCTGCCTGGCCGCCCATCGTCTGGGAGGTGAGGAGCACCTCTGCGA GGCCGCCACCCCATCTGGGAGGTGAGGAGTGCCTCTGCCCGGCCGCCACC CTGTCTGGGAGGTGAGGAGCGCCTCTGCCTGGCCGCCCATCATCTGGGAG GTGAGGAGCACCTCTGCCCGGCCACCCATCGTCTGGTAGGTGAGGAGCGC CTCTGCCCGGCCGCCACCCCATCTAGGAAGTGAGGAGCGTCTCTGCCTGG CTGCCCATCGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCGCCCCATCT GGGATGTGAGGAGCGCCTCTGCCCAGCCGCCACCCCGTCTGGGAGGTGAC GAGCGCCTCTGCCGGGCCGCCACCCCGTCTGGGAGGTGAGGAGCACCTCT GCCCGGCCACCACCCTGTCTAGGAAGTGAGGAGCATCTCTGCCTGGCCGC CCATCGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCACCCCATCTGGGA TGTGAGGAGCACCTCTGCCCGGCTGCCACCCCATCTGGGAAGCGAGGAGC ACCTCGGCCCGGCCACCACCTCTTGTGGGAAGCGAGGAGCGCCTCACCCT GGCTGCCCCGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCATCCCATCT GGGATGTGAGGAGCACCTGTGCCCAGCCACCCCGTCTGGGATGTGAGGAG CGCCTCTGCCTGGCTGCCCCGTCTGGGAGGTGAGGAGCACCTCTGCCCGG CCGCCCCATCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCACCCCGTCTGG GAGGTGTACCCAACAGCTCCGAAGAGACAGCGACCATCAAGAACAGGCCA TGATGACGATGGTGGTTTTGTAGAAAAGAAAAGGAGGAAATGTGGAGAAA AGAAAGAGAGAACAGATTGTTACTGTGTCTGTGTAGAAAGAAGTAGACAT AGGGGACTCCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGAT GCTGTTGATCTATAACCTTACCCCCAACCCCATGCTCTCTGAAACATGTG CTGTGTCCACTCAGGGATAAATGGATTAAGGGCGGTGCAAGATGTGCTTT GTTAAACAGATGCTTGAAGGCAAAAAAAAAAAAAAAAAAAGGGAGCAGGC TACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGTATGCCTGTAATCCC AGCTACTCGGGAGGCAGAGGAGGAGAATCGCTTGAACCCAGGAGGCGGAG GCTGTGGTGAACCGAGATCGCACCACTGCACTCCAGCCTAGGCAACAAGA GCGAAACTCCATCTCAAAAAAAAAAAGGAAACCGCATCTCTACTAACAAT ACAAAAAGTAGCTGGGCAAGGAGCTAGGTGATTAAGGTGATTATAGTACC AGCTACTCAAGAGGCTGATGCAGGAGAATCACTAAACCGCATCTCTACTA AAAATACAAAAATTAGCCGGGCAAGGAGCCGGGTGACTATAGTACCAGCT ACTCAAGAGGCTGATGCAGGAGAATCACTTGAACCCAGGAGGCGGAGTTT GCAGTGAGTTGAGATTGCACCACTGCATTCCAACCTGGGCAACAGTGCGA GACCCTGTCTCAAAAGAAAAAAATAATATAAAGTGACCAGGTGTGGTGAC TCACACCTGTTATCCCACCACTTTGGGTGGAAGCAGGAGGATCACTGGAG CCCAGAAGCTTGAAACCAGCCTAGGCAACATAGTGAGACCCTGTCTCTAT ATTAAACACACACACACATGCACACACACACACACACACACACAAAGGCA GCCAGACTATGCACTAGGAACTGCCCTGGGAATCCCTTGGCGTTCTCACA ACAATCCCATTTCACAGATGAAGAAACCAAGGCACAGAAATATTAAGTAA CGTGTCCAGGTGCGGTGGCTCACGCCTATAATCCCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	343	0.0029	-4337	c.66 others(10): Show c.664_*5000del	SLC35G4	ENSG00000236396.8	transcript	ENST00000588001.2	protein_coding		664		chr18	TogoVar
ADPRHL1_chr13_113394611_113458488	113395851	TCCAGGCT others(4328): Show TCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCT ACCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGAACCA CAGGCACCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGA TCCGCCTTTCTTGGCCTCCCAAAGTGCTGGGATAACAGGCGTGAGCCACC GCGCCCGGCCCCCTGTGTTTTCTTGAGTGCAGGGGGCAGAATCCATCCTG GGGAATTTGAGCAGAAAGGGACATGGTGAGCAGTGTGACAGCTCCCAGCT CCTTGCAGGACTAGAGGAAAGGCCTCCAAGCCCAGCTCTGCACTGGCTAA TGAGCTTCCTTCTCTCAGCTTCCCTGGAAACATCTTTCTCTGCACACCCA GGAGACTCCATATCACCGGCTCGTCCTCACCGTGGGCCCAGAACCTGCTG TGCCCTGCCGGCCTGGGGAGGTTGCGTCTCCCTGGCAGAGCTGCATGCGT CCCAGCAGCAAGGAAGGCTGGGGATGTGGGATGTGGGACTGCCGTGCAGA GAGAAGACAGGATTCATGTTGTGGGGAGCTGTCAAAACGTAGAAAAATAG CCCCACTTTTGGGGCTCCCATGAAAGACTGGGGTCTTATTCATATGTTTG AGCCCCTTTGGAATTTGAAATGAAGCCGAGTTCCCTTCCTAACGACACAG AGCTCGCAGAAGCCGCCTCTTCTCTTGGGCGTCCACCGTCAGCTCTTTCT GGACTTTGTTCTTCCTGTATGTGTGCGGCTTCCTGCCGTTATCAAAGTCC AAGAATTTCATCAGTTTCTTATTTTGTTTTATTTTTTAACATTTTATTCA TTTTTTTTTAAGATACAAGATCTTGCTATGTTTCTAGGCTGGCCTCAAAC TCCGAGGCTTACGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACC ACAGGTGCTGCCACCGCACCCGGCTTCTTGATTATTTTATCATCATCATT ATTGATTGAGCAATGGAAATCTGTAACTTATTTGGTGCTTTTTTTGGGTT CTTATTTCTTCAAGATTTGGAAAATTCTTCCCTACGTGCAGATTTGCTGG TGGGTTGAGCGCCTTCTTCCAGTTGGGGATTAAGACATGACTTCCAGTGG TACAGGCCGTAAGGAAACAGCCATCCAGAGAATTCAACAGCTCTTTCTCC GCTCTTCAATACAACATGACCTGTGGTCTTTTGTTCTTTTATTTTTTATT TTACTTTCATTTTTAAATAGAGACGGGGTCTCACTATGTTGCCCAGGCTG GTCTGGAACTCCTGGTCTCAAGTGGTGAGAAACAAACTCATCTGTCCAAA CCCAGAAGAAGGACTCGGAGACCCGGAGGAGAGTGAAAGGGAGACTTTCT TTCTTTCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCGGCTGG AGTGCAGTGGCGTAATCTCGGCTCACTGCAACCTCTGCTTCCCGGGTCCA AGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACA CCACCACACTCAGTTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCTGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTGA AAGTGAGACTGTTGATGATGGTCTTGCAAGATCGGGTGTCTGATGGGCAG CCACAGCCAGCACAGTTTCAACAAATAATTTATCCCCTAGTGCACAGGTG TCTCCCCGGGTTCCTCACAGGCTGAGTACTCTGGGGTCACAGTCTTCTGG GACGTCACCTATTGGTTGTTGGGCAGGGGCTGTAGGTGTTTTTTTTAGGG GTGTCCTGTTGCATTTTGTTGCAGCCCACAATGCATTGCAATCCCAGTCA GCCCAGGGGCTCTTCAAGTATTTGACTTATGACCTAAGTAGCTGGGCAGG CTGATAAGAACAGACAAAGCCAGCTATTTTGCAGGCTAGTAAACTGTTAT CTTAGACTAAACTTCTTTAGTTCAGGTGAGAGCACCTAAGGGCCGGGGGG AAGGGAGGGAGAAGGGGAGGCCGGCAAGCAGGCACTGGCGATCCAGGCAG GGGCCTCGGACCTCCTGTTTCTTCTGTAGTTTGCTGACTTAAGCCGATTC AAGGCACTTTGTCTTGGAAACGGACCACTGTAGACACTGTTGCCTTCACT CCCCGCTTGGCCTCCTTTGTTCTTCTAGGAGAAGATGCCTCGGCACTTTC ACGAGTTTGGGGTGTGCACAGATGGGGCTTCTAGTAGGCTCCTGTGCCTT CGAGTGGCTTCCCAGACACCGCCTGGGGTTGTGGACCTGAGCCAGGCCAG TCCTCTCGCTGTCAGAGAAACGGCGTGCACTGCTCAGCTGCTCAGTCCTG GGCTTTGGGGGCTACGTGACATCCATTCCTGTCAAAAATCCATGGCGGCC ATAAAGATTCAGCAAATGCACCGACGCTCAAACAGACAAATGTCCCGGCA CTTCCTTTTGTGGTTGGGGCTTTTTCTTCTGTTCAGGGAAACATTTGTCT ACCCCAAGCTTATAACAATATCCCAAGAATGGGGTTTGATCAGACTTCTA TGTACACCAGTCTCACAGACGCCCTCAATAAGTGCTTTTAAAAGTTCTAG CCGGTCGCAGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACGTGGTG AAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTCTTGGCGG GCGCCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCAGGACAGTGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCA GCCTGGGTGGCAGAGCGAGACTCCGTCTCAAAATAAATAAATGAAATAAA ATAAAATAAAAGTTCTAATGAAAGCCTGTGTCATAGCTTAATTGACAGGG GTTTTCTTTCAGGACAAGAGGTGCCTGCACCATCCCAAAGCCTCGGCTGC CGGGCCAGTGCTCTCAGACACGAGGCATCAGCTCGTTTCAGTGGAACAAG CTTTCCTCCTCACAAGATGCCAAGAACCCGCGCCACCCACGGGCACAGCA GGGGTTTGGAATGCAGGCATTCCCAGCTAGGTCTGGCGTGAGCTTAAACC ACCCGTTGTTAAATCCTCATGAAAAGTCACTTACAAAGTTCTCCTGCATA CAGAGTAGTGGAGGGCAGAGGGTGTCTCACAGGCCTGCTGGGCCCGTTGC ACCCATACTCCTTCCCTCCCTTCTGTCCAGTCTCCCTCCGTGTCCCAGAG GACACCCCAGCCCTTTGGCCCCCCGCGGCCCAGGTGCAGTGGCCGAAGTC CAGCTCCCTGGGTCTTGCTCCGAGGCCGGCACAGTCTTGACTGGACCAAG AGAGGGTCTGGGGAGTGCATGGCCTTGTCTCTCTAAGCACATCCTAAGGA GTTCTCCTCCCACTTGGGGCCTTGCCCCAGACCCTCCCTCCTGCCCAGGA TCACTGCTCCAGGCTGGCCACATTCACCCGATGGGGGCTCTGCCCCTCGC CCCAGGCCTGAGTCCTACTTCATTTATGCGGCTGCTTCAACAATGCAAGG AAGAGATTTGTAATGGGAAAGGTATTTTATTTCTTTTTGAAATTATTTCC AGCTGAATGATGTTAGTAAAAATACAGAGAGAATACAACAAATGACATTT AGTAATTTTTTCTGACTAACCCATTTTAGGGTTGTTTATATACAAAGAAG AATATGAACAAGAACAAATTTAATAAATAGCTGTAGCCTAATACACAACC GAAAGACCGTAACTCCAACAGCAGAGATACCCTGAGAACAGAATAAGGAG GTGGTGCTGAGCGTGTAAAATCCCAGACAACGACCCTCCCTGAGCGAGTG TCCTGAACATGACCACATTCTCGTCGCCGTCTCGGGACCTTCCTGCCGCC TGAGTGCACCGCCTCCCGCCCGGCTGTTGTCACTTGCACCCACAGACCTG CGGCTCACAGTGGGCCTGTCGACAGCCGGAGGCACCGTAAAAAACTGCAG GGAGGAGGCAGTCAACGAGTCGCTCAACTACACAAAATTAATGATGTTAA CTAAGAAGCTAAAATAAATATCCTGTTTTCTTTTCTTTTCTTTTCTTCTT TTTTTTTTTTTTTTTGACGGAGTCTCGCTCTGTCAC	T T	splice_region_variant splice_region_variant	LOW	HG02135.hp2 HG02135.hp2	a0015 a0015	a0015c0051 a0015c0051	a0015c0051t0105 a0015c0051t0105	a0015c0051t0105g0177 a0015c0051t0105g0177	1	244	0.0041	-4335	c.31 others(11): Show c.3192_*7526del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8			chr13	TogoVar
SAYSD1_chr6_39099063_39120186	39100787	ACCATAGC others(4328): Show ACCATAGCGTGGATGATCTTTTAGAAATGAAAATTGGGGGCCGGCTGCAG TGGCTTATGCCTGTAATCCCAACACTTTGAGAAGCCGAGGTGGGCAGATC ACCTGAAGCCAGGAGTTTGAGACCAGGCAGGCCAGCATATAGTGAAACCC CATCTCTACTAAAAATACGAAAATTAGCTGGGTGTTGTGGCACATGCCTG TAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGG AGGCAGATCATGCTACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTG TCTCTCAAAAAAAAAAAAAAAAAAAAAAAAGTAAATTGGATCATATCACT CCCTTACATAAAAACTTCAAATGCACATAAATAAAACTCAAACTCCTAAG AAAGAAAAAGAAAGCAAGGGAAAGAATAGCGTGTTTAGAATGGTGTCATT TGCAGGCTTGAGAAAGAACAAACATGGCAGGGTGGAGGGAGATGTTCTCA CTATACACCCCATGTACCTCTTGGCTTCTAAAATATATGCATAGAAGTAC AACAATATTTTATTCCTTCCTGTATTTCCAAAATGTTCTAAAATGAGCAT GTACTTCTTGTTGTAATCATTTAGAGAAAACCTCAAAAATAAAGGACTTA ATTTCCACGTAGTCTTTGGAGTTAGCTCCTCATTGTTTTAAAGCTATGTT TCTTCGTCTCTCGCTTTGGTGTTCCAAATGAACAGTTTGAAAAATAGCAA GCCTCATTGCTCCCTTTAAAAATGCACACCAATTTTCTTTGCTTGGATCT AATAATCACTAAATTTTCTTCCTATTTTAACATTTATTGTTTACGTCAGC GGCTCTTAATCTTTATTGTGCCAGAGATCACACCTGGGAGGCTGTTAAAA TGCAGATTCTCAGGATTCTACCCTCAGACATTCTGAGTCAGTGGGGGCCC TGGAATCTGCATTTTAACATTACTACAGGAGATTCCTATGCAGGTGCGTG GTCTATAGACCATACTTTTCAAAACGTTCATCCATGACTTGTTAAGGAAA GAGTATTTTTCACATAGAAGTGAAAATCCTATATAGTATAGAATTTAGGA CTGCAAGTGATCTCTCCCTTGAACACACACACACACACCTTACACCTTTA TAAACATTCACATTATGTCCTGTACTTTATAATACAGTTTGTGTGCACTC ATCTTGTCTTCTCTCTCAGATTTTTGAGAATGGGATCCAAGTCTTTATGT AGCCTAGTGCTCCAAAGTTGTGAAATAAAATTATGTGTGATAGAAACCAA AGCATATGGTTCAAAAGTTACTTTCTTTGGCTTAGGGAGTTGGTTTTCTC TGCCAACTATGTAAATTCTTAGTCATTCCACCTCCCCTTCCCGCAAAGCT TAGCTATGTGCAAGCAACTGTAACACTGCCTGCTAAGTCTAGAGAGGGGC TGCTGTTTTATTTTTAAATACATATATAAATCACTTCTGGTAGCTTTCTA TGCCTTTCCCAGGACCTCTGATGGGCCCTTTCCTCTGTGAGTTTTAAACT GAAAAAAACATCTGAAAAAGCAGCACAAGCGGTTGAGATAAACATCCCAG AGGGTTTTCCACATTACGTAAATTTTCAAGTGTGATGTGAAGGGACCCGT GAGGTATAGTGGCAGCTCTACGCCACCGCCTGGCGGCAACATGCTTCATG ACATCCCAACCCCACCCCTGCATCCCCGGGCTCTTAGGGACGCTCATCCT ATGCAGGAGCTCATATGTGTGTGTCCCCAGCAGCGCCAAATCCAGGGCAT CTACAAATATTTGCTGGTATGAGTGGCAGGAACTAAAAACACACAGCTCG AATTTTGATGTCTTCTGCCCAACTGAGGGTCACTGGTTCTTTCAATTCTG TAACTTTCTAAGATTTTGCAGCACAGAGCTTTTTGATTGACGCACAGATC AGTCAAAAGGCAAATGTGAAAGACAGCCTATACTCAAAGCATAACTCTAA TAGCACAAAATACACATGCCTAAGTCATCACTGGCAAAGCTCCAAAGCTT TTGAGAAAGATCATTATACCCATCCACAGGGCCACTCACCCCCACCCAAA CCTGAAACACTTAGAATAGGTCAGGGCTAGCATGAAAGTGATTGAGTCCC AGAGGTATAGCTCAATGACTTGGCCTAAAGAGCAGAGAGAAAAGAGAACT GAGTAAAGGTTTACCAGTGTGAAGGATGCTCACATAGGCCTCCAGGGACT CCACATCCACTGAGATTAGGAGACAAAATAACCCCAGATGGCGGGGATGG GGGTGGCAAAAGTTCTTTCAGTAAACATAAAGAACTTCCTAGGAAGTACC TGGAATCTTCTTTAGGGGTTCACTAGAAACAAATTATCTTTAGTTGGGAA TAAATGATGGCCCTGCCCAAGGTTGGGGGTGGGGAACACACTTGATGGTA TTTTGGGGTCCCTTCCAACTTTAGATGTAGAGTCTTGTTGAACAGTCCCT ATCAATAGGCAAGATGGGATAATGTGAATAAAAGCAAAAACCAAGTTACT TGTTAGACTTGGACACAAACGACTTCACTCGTGTATAAAGCTATCACAGT GACTGCATCTACCTCTGGGATTTCAAGTTCCCTGATGACAGAAGAATCCT TTAATGGAAGCTGCATGCTGGGTTAATGGTCAGGCTGTGAGTGGAAATTC TGAGATCAATAGGCCTAAATTCGGAAAATCAAGGCTGCACCTAAAACCTA ATGGTCTGATCAGAGCACCAAATACTTATTGTTCTTTCTTCTTCTCCCTG CCAGGCCATTAATTGATTCACACACTATTTTTCCTAGAAGTTAATGCCAT CATTACATGCACCTTTGGTAAGAGGTTAGAAGTGACAAATTGTTCACAGA AAATCTCATGCAAGATGGGTTTGAGGCAATCTAGACTCCACCTCAAAAAC AGCTGCATTTCAAAAATCACTACTGAGGTCCACCCATAGGTCAAGTCTCA TGCGTGCTTAAGTCTTTACCCCACTGGGATTACTAATTGGATCAAACCTA ATTCAGAGTTACAGGCATTTTGTTTTAGGGGAAAGTCTGAATTATATGTT TTTAAAATACAAATTAGTTCTTTCCTACAGCAATGCTTACTGCCCTGAGC ACTGCAGTAAAACTTAAGATTAGGGAATTACTCCCTTGTATGGGGCTTTT ATGAAACAGAAAAGCCCAAGGAAAGTATCAAGAAAATTAAGAAAGCCTTA AGAAAATAAATCAGTCAACAAAATTGTATCTTAAATACAATCAAAACTTC ATGTTTAATAGGGATTCATCTGTTTCCCATACTTTTTACATGTTCAGTTC AGACAGAACTCATGGAAGAAAAGACTTTTCTGTGAGATAGAACAGACCAT CTGCTTGACCGGATGGCTCTGAGGGACAGCCAAACTCCCAATGGCCAAAG GGCTGTGAGGAAGGGCAACACATATCAGAAGAATTTTCAGCAAGGGCTGA AACACAGTAAGGTTAGCCACAAAATGGAATGAGAGAAGCCCTAACCCAAT GGGAGTTTGCCTAATTTTAATGAACCCAAACTCTAACATTGTACTGGAAA AGCAGCATTAAAATCCAGCCTGATTATCACAATTTACAGAATTTCTCACC AGAGGCCCACAGGTGAAAAAGCTGCTTACTCTAAAGCCCTTAGAACCGTA TTGTGAACTGCGCATGCGAGGGATCTAGGTTGCGTGCTCCTTATGAGACT CTAATGCCTGATGATCTGAGGTGGAAGTTTCATCCTCCACCACCACCCCG TCCATGGAAAAACTGTGTTCCACAAAACTGGTCCCTGGTGCCAAAAAGGT TAGGGACTGCTGCTTTAGAATATAAGAAACAACTCAAGCAGCCAACGGGT CTGGAGTTAACACTTCCAGCCCTCCCCTTTGTACACACTCAACACTTCTT GCTGAACTGGCCGTTAATAACCACTTGTGAAATCCCTCCCCACACCTGCA CTTAGGCGTTTGTCTCTTCCTACCTTCCTTTACTGAGTAGTGGCAAAATA ATAGGAGAGTGGAAGATGGTGATGGGCAATGAAGAGGGACCTATTTCTGA AGAGGAGATGTTTTAAAGATATTTTATTTTTCAATACCAGTAATGACTGA AAATTAAAGAATTAAAGCAGGAAGCAAAACAAAAACAAACAAGAAACCCA AAACTTGCAACCTAAACTCTCCGGGAAAAAAAAAATTGCTATAAATGTTA AAAGACTTAAAGAGAACATTGACAATGCAGCCCTGATGTACCTAATCATA CTTCAAACTGCTGGATGTTTTAAGCTGAGAATCTCC	A A	splice_region_variant splice_region_variant	LOW	HG00639.hp2 HG02615.hp2 NA21309.hp1 HG00639.hp2 HG02615.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0003c0003t0004 a0001c0001t0008 a0003c0003t0004	a0001c0001t0008g0148 a0003c0003t0004g0037 a0001c0001t0008g0148 a0003c0003t0004g0037	3	458	0.0066	-4335	c.31 others(10): Show c.310_*4644del	SAYSD1	ENSG00000112167.11	transcript	ENST00000229903.5	protein_coding	2/2			chr6	TogoVar
SCN8A_chr12_51586233_51817864	51707763	CCAAACTC others(4320): Show CCAAACTCATTGTACTAACGTGCATTCCCACAACAGGTAAACTCTTTGCA TTGGCTCAATAAGCCTAAAAACATCTGGTTTTTCTAATCCCACTTGATTT TTGTTTTCCCCTTTGGCCCTATGTTTTCCAGGCCCATCCCTGCATCCTCA TTTCTACCTCACTATGCTCCATATTGTTCTCCTCTGGGAGGAAGTGTTAC CAGCACATTTGGAACATTCTCCATTCTAATCCTGCCCTCCCTTCTCTGAT GTAAAAGCCAACCCTAGACTATGTGATCACCTTTGGCAGACTTGCTTGGC AGTAAAGTATATGTCACACCAGCAATCTTCATGTTCTAAAACATCAGGGA GAGCTTTTCTCCTCTAAGCATCAGAATTTAGCTCAAACATCTCTGTTTAA GAATTGCATTTAATTATAGGGGATAATAATAATAGGAGTCATGAAACAGG ACATCTTATTTGAGCATGGCAAGTTCTACTGATTAATTATTCTGGATATG TAGTATCACACTGATAAGTTAGCCTATGGTAGATTGAAAGCCTCCAGTTT TTCCCAACTTTGATAAATAAGGAAACTAAGCAAAAAAGAGAAGAGAAGAC TTAGGGTAATTGTTGAGCATTCTGTTACTATAGATGTCATCACATAAATA GGTATTTTTGAATTTCAGAGAACACCACCAAAATCTAATTCTTAGGCCAT TTAATTTCCCATTTTAAAGAAATGCTGGAAAGTTGGTAGGTATAGAATAG ATTATAGTTACTGTTTATGGCAGTATATCCAGTGTCTTTTCTTTTTTCCC AGAGATGATTCATTTTCCCACTTGCATCTCTCACTTTCCGGTTCAGTCTT TTGCCAGTCTTATTCATTTCAGGGGATGAGCAAAATCCCTCATGTCCATC CCTTTCTTTCCATTCCTTAACCTTATCTTAGTTTTGGCTTTACAATTGTA TTATTTTGTTCTACTGCGTTTGTCCACTGCAGTTTTGTTTTCTGTAGTCT TTCTCCTTCTCCTTTGTATTTTATATACTGTCAACAGATTACGTCCTAAA ATGTAGTTCTCATCATTCATGTAGTAGGCATTTATGGAGTACCTACTACA TATCAAGGATTGTACTAGGTCCTAGGGCTTAAAAGGTGATTAAAACATCA TCCCTACCCTAGAGAGCTTACAGTACAGTGAGACAGCTGAATACACTAAA AAATTATGTAGTAGCATGTGTTATTCCATAATTGAGATATGCTGGGGGTG TTAGAAAAGCACAGATCTATCCCAACATGGAGATTCAGTAAAGATTTTCT GGGAAAGGTAAATTTCTGAACTGAAGCTTAAAGGATAGACAGGAATTAGG TAGTGTATGTGTGTGTTGGTGAGGGAACAATAAGAAAAAAGGGATGGTCT AGGTTTAGAAGGGAAGCATATTCCAGTTTAGACATCCAAAGTTTGAATTA TTTGTTGGATAACCAAGTACAGATTTTTTTAGACAAGGATAGGCAAATGA TAGCTCAGGGAAGAGGTCCTGAGCTGAGAGGTGGTGATTGAAACCATGAG ACTTGTGGAGATTACTCAAAGAGAATGTGTCAGTTGGAAGAATAGTGAGC CAAAGGCATGACCATTGCTGTTCACTGGCATAGAGATGGAGTTCAGGAAA GAAAACGGATAAACAGTGTTAGAGAAGCTGAGAGGGCCAAGAGTTCAGTG AAGTCAGGAGAGTAGCGATGTTGGAGAAGGCAGGGCCATGATCAATGGAT TGAAATTTAACAGAGATGCTTAGTGAGCTCAGAATTGAAAGTGTCCATCG GATTTGGCAATATAAAGTCATTGAGGACTTTAAAGACATGTTTTAGTCCA GAGTAAGGAAGGATGCCATGTTGAGTGGGGAGTGGAGACAATGAGTATAG ACTTCTCATCCCAGCTTCTTTAAAGAGTGTGGGTGGAAATAAGCATGTTT ATACTTTGTGGAAGAAAAAAAAACAGAAAAGGGAGACGTGTTAGAAAATG AAATAGAATAGATAGAAGTAGAGCACAATCTTGGAAGATACCGAAATAGA TGTGGTTTTTAACAGAAAAGGGACCCTTGTTCCCTGAAACCTTAAGAAAA CAGGGAAGGATGAGGTGGATAAATTTGTAGAAAAGGAGTAGGAAGTTGAG GAAGATAACCCCTGACAGTTTAGTGTTTTGATAATGTTGGGAATTAAAAA TCAAGGAGTTTGAGATCAGCCTGGGCAACATAGTGAGACCTCTGTCTCTA CAAAAAATGAATTAATTTTTTGATAATGTAGGGAATTAAACATCTTATTG AAGGGAATGAGAGGTTGTGTTTGGAGGTTTAAAGAAAATATTGACAGTTT AGAATAGTTTTTAAGAAGAATGGGAGAGGGAATTCCCCTAATCAGATTCA TTCTATTTACTAATTAAGTCCCAACTCCTTACCCTGGAATTCATAGCATT CCCCATCCCCTTAGTACGGTTACAACCTATGTGTTCATTCTCCAGTCTCT GTGCCCCATCAAGCACCCTATACCTGAACCAGAATGAGCTACTAGATATT TCTCATATATGATGTTTGTTTTCTACCCTCTGTGGTTTGCTCAAGAAACA CCCTCTCTAAAATGTCCTGTTGGCCAGCACAGTGGCTCACACCTGTAATC CCAGCACTTTGGGAGGCCAAGGTGAAAGAATCATTTGAGGCCAGGAGTTC AAGACCACCCTGGGCAACATAGAGAGACCCCTGTCTCTACCAAAAAATTG GCCAGGCGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCCGGAGTCTGAG GCGGGAAGATGGCTTGAGCATGGGAGGTTGAAGCTGCAGTGAGCTGTGAT CTTACCACTACACTCCTGCTTGGGCAACAGAACAAGACCCTGTCTCCAAA AAAACAAGAACAAAAACAAACCAAAAAATTAAAATTAAATAAAATGCCCT ATTTTTCTGTCTTTGAATTTCTGCATCATAGTTATTCTCAATATCTTCCT TTCAAGAAACCTTCCCTGACTCTCCTGTTTTCTAGTTGGAAATCTTCATT TTATCTTTCTGTTATGTTTTATATGTACCTCTTTATTTGTTGCTTTTTAC TCTACATATAGAAAGTACTCTACATATACTCTGTGTGCATATTTATTTAT GCTCATATCCTCTTCTCTCTAAATAAAGTGTTAAAGTCAAGGTCTGCTTC TTAGCACATGGCTAGATATTGTTAGACAAATGAATGCAAGACTTTTAGAA ATTTGATTTAACCCTTTCTGAGAGACTTCTTTATAGCCTGAAGCCATCTC TATCTCACCTTCACCTCTCCTTTCTTCTAGTTCAGCCTCTTTTGGGGAAA GTATGATAGTAGCTTTGTTGTAATTTTACCCTTGTCTTGAGAGACTCACT GAGCTATGAATACCTTAGCGCTGTTAACGCTTTGCTATTGAATGGTCTCT GATTATTCTATAGGCTTTAGTACAAAGGTACACTGATTGCTCCTTAACTC AAAAAATAAAACCAGGTTTTTGAGATGCCCTGCTGTGCATGAAAATATTC ACTTAGTCTAATCTCTCCATTCAAAAAAAATAGTAAATTCCTAGAGGCCA AGGCTGACTGCCAAGAGTAGCTTAAGATGCTACAAGGGATAGTAGTATTC TTTGTCCCAGGACTTTCCTGCAGTTTCTCTGGAAGAGTGACTGAGGAAAT CGAGGCCTAGAAAGAATCACTTATAACTATAACTAGTTATAGAAGGTTAT ATAACTAGTAAGTGTTCAAGCCAAGATTTGAACCCAGGTTCATCCAACTC CAGAGCCTGTGCTCCTAACCACCCCTTCTTTATTCCTGCACACGTACATG ATCATCTCTTCTGTTAGTTTAACAATGAATGTGGCTTCAGTTTTCTCACA ACATAGTTCAGTTATGTGTCAGTTTCTTTTATTTCCATAGCTTCTGAGTT CTTTTTTTTTTTTTTAGAAATTTTGAGATTTTTTTCATTTGAAGGTAATC GTAATGCTATTAAATTCACAAATGCTAATTTAAATATTCAATCCTATTTA TCTAAAACACACATTGCAAACACACAAATTATCTATTCTCTCCACGTCAG TACCCATTCATATAGTGGTTTGGAAATGGGGAGAATAGATTCCCCTTAAA CTGCAAGTCAGCAGGTGTTTCTTTACAGTTAACTTTAGCAAAATTCATAC AAAATAGTAATTAACAATGATCTTTACTTGTTAACTCACAAGGAAACACC TTCAAAACTGCATTTTGTTAAAGTTTCTGTACTAAAATGTAGAAAAACTG AACTACATAAATATTGAAAAGTTAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	200	0.0050	-4327	c.163 others(19): Show c.1635+1049_1635+5375del	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26			chr12	TogoVar
TENT2_chr5_79607441_79693246	79629603	GGATCACG others(4319): Show GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATCGTGAAACC CCGTCTTTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCA GGAGGCAGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTG GGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAATAATAACCATACATAG GCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAG GCGGGTGGATTACCTGAAGTCAGGAGTTCGAGACCAGCCTGACCAATATG GTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTG GCGTGTGCCGTAGTCCCAGCAACTCGGGAGGCTGAGGCGGGAGAATTGCT TGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAACATCGCGTCACTGTACT CCAGCCTGGGTGACAGAGCAGGACTCCGTCTCAAAAATACAAAAATTAAA AAAATGCAGATCACAATTTTATTTATATAAATGCTGTGCAGGAAATTAGT GAGTGCTGAGAGAATGCATTTGAGGTCTCAGGGAAAGCCTCTTAGAGGAG GCAGTATTTGAGTTGAGATCTGAAAGATGAATGAGTTAACTAGTTAAAGA GTGGTGGGAGCCAGGCGCAGTGGCTCATGCCTGTAATCGCAACACTTTGG GAGGCCAAGGTGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAACATG GCAAAACTCCATCTCTTTTAAACATACAAAATTAGCTTCGTGGCAGGTGC CTGTAATCCCAGCTACTTGGGAGCCTGAGGCAGAGAATTGCTTGAACCCA GGAGGTGGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCTAGCCTG GGCGACAGAGTGAGACTCTGTCTCAAAAAGTAGTGGGGATGGGGAGACTG CTTTAGAGAGAGGAAATAGCATGTTTGAGGGTGTTGATGCAGAAAGGAGA ATGGAGTGTACAAATAACTGAAAGGAGGTCAAGATGGCTAGTGTTTGGTG AATTGAGGGGAAGTGGTTGAAGGTGTGGTAGGGGAGATGGGAAGAGGGGC ATATTTTGCAAGGACTATTAGGCCATTTTGATCTTTAGCCTAATAACAGC AGTAACCTATTCAGGTTTTTTTTTTTTTTTTAATGCAGGGGACAGATGAG TTAAAAAGTTTATTTTCACTGCACTATGGAGAGTAGATTGAAGTTGAGCA AGCATGGATGTAGGGAAGTTGTACTGTAGTATTTCAAGTGAGAGGCAATG GTACTTGAATTAGGAAATGCTAGTAGTTAAGATGAAGAGAAATTGATGGA TTTAAGCTGTATTTTAGAGGTGGAATCCATAACATTTGATGATATATTAG ATTACAGTGTCTAAGCCTCTACAATATCGACATTTTAGGCCAGCTTACTT TGGTGTGGAGGGGCTGTCCTGTGTACCCTACTACATTTAGTAGCATTCCT GCCACCAATCCCCAGTTGTGACAGCCCAAAATGCCTATGGACATTGCCAG TCATCCTCTGGGGCAAAATTGCCCTAGTTGAAAACCATTGGGTTCGATTG AGAAGAAGGTTTTGAGGATTACACTCAAGTTTCTGGCTTCTACAGCTGGT GGCCTCATTTGCTGAGACAGAATAGAATGGAAGAGGAGGAAGATTTATAT GTGTGCTTAATAGGGATTGACTCATGAGTCTGTGGACATGTGCCTTTAAG AAGCTTTTGAAGCATCAGAGTGGATATTTAGCATTGATAGTTGAATATAC TGTGTATAGATCTGGAATTCAGAGGTTATTCATTGGCTAGAAATGTGTAT TTGGCCATCATCAGCATACAGATGGTAATTGAAGCCCCAGGAAGAGAGTC TATGTCCAAGACTCGTTGAAATCGGTTGAGGAAAGAATAGGAGAACAAAT GCAAACTAAGATTATACACAACTGTTTTGGGACATTTGGCAGTGAAAGGG AGGAGCAAAAGGTGTGAAGTTAGGACAGGCTTTTTTTGGTAAGGTGGGAG AAACTCTGGTCACAAATAAATGTTTGTGGGGAAGATTCATAGAGAGGAAA GAGGTTGACCACTCTGGAAAGAAAAGAACAATCATGAATAAGGTTTCCCA CAAGGTGGAAGGGGAATGAGTCCTGTGTATAGGTGGAGTGATTGGCCTTA GGTAAGAGAAAAACTTTTTTGAACTGGCTGATAGGAGGAGAGGATAGGTA TAGATACAGGGAAATTTGTAGATACGGTAGGGAGAAGTTAGTGGAGTTTC CAGAGTTGAATGGCATCTTCCCGTTTTCTCTCTCAATTACTATGCAAGAT AATCTGTTGAGACTGGAGAAGATAAAGTAGGATATCAGAGGTTTGAGAAT AGTGGAGAATGTTTGAAATACCATTTACTGAATGTAGGGAATCAAACTGA CCAGAGAAACAGAGTGCAGAAGGTTTGAAACATTTTCTGGGTAGTATAGA GGGCTCACTTAAGATTGGTAATAATGAATTCATTAATAATAATAGTGAGT CAGTCAGCTGAATCTGCCAGCTCCAGGGAAAGATTTTGTTAGAAGTTTTT TTAACTACTTTGAGGATAAACATAAAGAATTGAATTTTGAAAATGAATAC CCTCTGAGTTTAAATTTTTTCATGAGTTTTTTTTGTCTTTTTTAAGTTAC TGTGTTAACAACTCTTTAAAGTAGAAATCTGAGTTATTCCTGAATTTTAA CTTTTGTTTTTACTCTAGGTTTTAGAAGAATATATGGTTTTCTGCACAAA AATGAGAATGTAATCAGTTATCTAAGCCCCTGAATTCCATCTACAGTATT AAATTGTTCTTTGAAATTTCTGGTTAGTAGAAGGTATTATGTGAATTGAC TTATTTGATTTTGAATTTTGAGTTGAAATGAGGTTAGGCTGAGGTTTTTC TTGGTATTGATTGTAAAATAAAAAGACAATTATTAAAGAATTGTTAAATT CCCTGTGTAATGTTAAATTTGAGAAGGGGCAAATTTTATGGAGCTTCTTG GCATCCTTGGAAGAACAGTTTGGGGATAGTTATCTTACAGATCTCTAAAG GACTCTGTCTTTTTAATTTATGTGTTTGTCAGAAAAATTCAAAAACCACT GAGATATAAATTTACATAGAACACCTAAGAGAGAACTCAGACAAAAGAGA TCAAATAAAAACTTGTTTTTTTCCTATCTTTCTTTTTTGGGCAATTCTTT GGCCAAGTTCAGGTAATAGTAGGCGCCTAAAGTAATCAGACTTCAGGGGG AAAACAATCAGTAATCCAAACTGCCTTCTCAACCCACCAGTTTATAAATT AAGAATACTCCAACTTTGTCCTTACACAAAAACATAGTAATTTAACACAC AAGAAGTGGGTTGTTTTAGGCATGACATTTTTCTAGTTCTATTTTGTTTC AGAATTGTTTAATTTGATGGGAAAGGGAATTGACTGTGAAGAATGAATTT AAACTTTTATTACACATCTGGCTTTATTTTCCTCAGAAAATTAATACCAG CTCTTTCTATAGCTACACGTAACAAAGATTAAGGCAATGAGAGAGCCTGA GAAATTGCCAGTTTTTATTGCAATGTTTATATGCTATAATGACCTGTTTT CTGGACCATAGTTTAATTTTATTTCTCCCATTTTGAAAGCTCATTGCTGA TTGTGTTTGTAGATAGCACTTAGGCAAAAAAAATTTACATTGTAGTATAT GATTAGGTCTCGGTATTTCCAGCTAAAAAGTTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCT TGATCTCAGCTCACTGCAATCTCCGTCTCCTGGGTTCAAACGGTTCTGGG ATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAG ACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTGCCAACCTCAGG TGATCCACCCACCTTAGTCTCCCAAAGTGCTGGAATTACAGGCATGAGCC ACTGTGCCAGGCTAAAAAGTTTTTTTTTTTTTTTTTTCCACTTTCTTTTA CTCAAGGGCCCAGCTATCAGGGACAGGTGGTGAACTGCTGAGTATACCAT GTGAAGGTTATACAGTGTTAAATACCATGTGAGAGCTTTATATATTGGTA CATATAAAAACTTTTCTGGGGCTGGGTGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	342	0.0029	-4326	c.465 others(17): Show c.465+6155_466-6882del	TENT2	ENSG00000164329.15	transcript	ENST00000453514.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
DHRSX_chrX_2214506_2505976	2277392	AGAGGGAG others(4317): Show AGAGGGAGAGAGAAGGAGGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAG AGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAG GGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGG AAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACA GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAA ATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAG GGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAG AGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAAC GAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGA GAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAG AGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAG GGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGG GGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGG AAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAG AGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0030 a0002c0005t0004g0030	1	48	0.0208	-4324	c.388 others(18): Show c.388+9786_389-10446del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2277972	AAGAGAGA others(4317): Show AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGG AGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGA GAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAG GGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGG GAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAAT GGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGG AGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAG AGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGA GAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGA GGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAG AGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAA ATGGGGGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAG AGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGG GAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATG GAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAA ATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAG AGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC GAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAG AGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGG AGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAG GAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGA AGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAG GAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAG AGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGG AAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGC AAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19066.hp1 HG03130.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	2	47	0.0426	-4324	c.388 others(18): Show c.388+9206_389-11026del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
HMGCLL1_chr6_55429373_55584192	55548779	AGAGAATA others(4305): Show AGAGAATATTAAGTAATAGAGAAAATGAAGAATATTAAGTTTATAAAACA TGGATAGTAACAAAATAATAGAAAAAACAAAAATGAGACAAAGTACATGT AAGAAGAAAAAAATCAAAGAAATCAAGAATAGGAATTTTTAATGCAAGAA TTTAATAAAGCATTAAAATAATTCAAAACAGAAAAACTTCTATGAATTGA TAGAGCACAAGATGCTGTAAACATGATAATGCTTCTTTAAATGGTGGCTG TTATTTACATTATTTATTTTAATAAATAAAATTATTTATTCTTGTATTCA TGGCAATTTAACATTGAAACAAAATAAACTATGAAAAATAGCCAACATGA CCTATAGGTGTTTCATTACAATTACAATCATTATTGCTATATTGAAGGTT AAGATAGTAATAAAAGTGTTACTTTGAAAATCAAAAGGAAATGTTTGACT TCAAATATTTTATATAGAAAATTTCTTCTCCTTAGTGTCTTCACCAACAA AATTTGTTTGATCTCACACTCTCCCACCTTGCTGTCAGTCCCAAAATTTA TTTTGAAAACTACGAAAATTGTTTTTGCCCCCTGCAAATACAGAAGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTATTTGGTAAAGCT TAATTTTCTGGGATAAAATTGTGATATGCCAAGTTTCCTCATGGAAATAT TTTCTGGGATGATACATTTCTGAAAACTACGGTTTATAATAGAAAATGAA ACTATTCATATTAAGCCAGTTATACCAGCAGCATGTCCTGATAGCCACAA AGTTGAAGGAAACTATTAAAATGCATAAATTGTCAGAGTTTTCAAGTTCA AACTCCTAAGATGGCATAGCAGTGTGTTAGCTGAGGACACTTGGTTTAAT ATTTAGCTAAGAAGACATAATTCATCATTCTAAATAGTTATTTTAATTGA GGCTGTTATTATTTATAAAAAGCAATCAAATTTCATTACTTTTTTTTTGT TATGCCATATTGATTATATAACAATGTCAAATTGGGAAATCACATCAGTG ATGTGCTATGAGTTTTCAGCTTTATAATACACTCTATTAAGCACAGTAAG ACTACTCAGTCATCCACACAGTCATCAACCCAAATCCATTCAAACTTCAA ATAAAAATTTTCAGATATTAATGAAACTTCCATCAAAATACAGCTTTATG TAATGTTTCTTTTCTGATTGGCAAAAATAAAAATGAGCATTTGCGTGACT ACAGACACACAACAAAAATTCTCAGAAAACAACAATCTATGGTCCCTTAT ACTTCTTGATATGTGAACAGTGTTTTATATTTGTTGGAGATGAATTATTG AGTGCTAAAGGTGGCAGAAGGGGTTGAGAAAAATGTTACCATATCCTAGT GAAGTTAGGTGAAATCTATACCTTTGGAAATTTTTATTTCTGATTAATAG ACTACAGCGGATGTTGTGAGATGTTGCTCAGGTACTCCTAGGGTGGAGAA ATTCTCAGAAACTAAAGTTTTGGCAGCTGATGGCATTTCACTGGGCCCCT TTTCTGTAATCACCCTCAGCTACAGCGCCACTTTATCCAAGGTCATGCCC CCATCCTAACTGGAAAGGCCATATCAGCTCCTGGGATTCCTGTGTGACTC ACTGAAGCCTCTGTTGTGAGTACATCATAGTTCAACTTATTCTTCTACCT AGTTTTATATCCTTTACTTCCCCACAGTTATTGAATCCAATGGCAATAAC GTCCCGCAAACAAATCCTTGTCCAGGAGACTGTTCCCAGGGAACCAGACC TAAGAAAATTAGTGCCAGGAGTGAACTGAGGAAGTGGTCTCCAAAATGGG ATTTGGGAGCTAGATGAGTTGCTGGTTAATTTTCAGTTATTTCATATTCT TCGAAGTAGGTGGGATATTGCTACTCCCTGGCAACCTGCAGCAGTGTAAT TATTAACATATTCACTCGTTCTCATTCAGGACAATTTTGCACCCCAAGGG ACACCCGGCAATGTCTGGAGAAATTTTGGTTGTCAAAATTGCTGGGCACT ACTGGCATCTAGTAGGGTAAAAATCTTACAATGCACAAGACAGGACTCCA CAACAAAGAAGACATCCAAAATCCATAGTGTTAAGGTTAAGCCATCCTGA CCTATACAATAAAAATTAATGAAGGCTATAGCTCATCAATTAGCTTTGGT TAGCTGCTTCAATGTAAAAGTCATGATCCCTTGCCTAGTCTATACATCTT AGCCAATTTTCAGACCAAAAAAAAAAAAATAAACCACAAGTGACTGAAGC AGCAGCCAGATGTTTATGATGAGGACCTTGTAATACTAAGAGAACTATAT AAAGTAATTCATATAATCTTTCCCCAAAGAGATCTATAGGCATTCATTTG AGTAAATTTACACTGGGTAAAGAAGAATACCAAAAATTTCAGATTCTTGG ATACAAGGTTCAATTTGACAATGACACTTGGAGACCCAAAGTATCATTAT ATCCCCATTGTTAAAATGAGAAATAGGAGGACCGCATAATAAGTGGAGTC CTGGGTCCTTATTCCCTGTGGTTATTTCTCAGTCCCTGAGTATATAATTG GAAATAACATATTTAGTATTAGGAACAGGCCTTACTGCATCTTAGTTCCT TGACTTGTAATGTAAGAGCTATTGTAACAAGGAAGGGCAAGTAGAAGCTT CTGAAATCTCTCCCTCCTCTCCTTCAGCTGAAATAGTAAAAAAAGAAAAA GAAGAGGAAGGGAAAGGAGGGGGAGGAGAAGAAGAAAGCATATTAGGTGA GCCAGCAGAGATTATTACCATCCTCAAGAATCTAAAGAAAGTAAAAGATA CAGGGGTGATGGCCTCATCAGCAACCCCCTCTAATCACCAGTACAGCCTC TACCCAAACCAGAAAGATGTTATGATTTTGGAGGATGACACTAAGCTACC ATAAATAAACCCCAATTGTAGCTTCTGTCCCAGTTGCAGTATTTTTGCAA AAGCAAATTAACACTGCCTTATTTAAATGGTATGCAGCCTCCAATGGATG AAAGCTTTCTTTTCTGTACCTGAAAGAAAAAACAGCATTAAAATTCCAAT TTGCTTGGGACAGACAACAGCAGATTTTATAGAATTCTCTCAGTGCTATA TTCATTCACCTATTGTCTGTCATAATATATTTCAAAGGGACCTGAAATAG CTGGACATTCTGCAGAACATCACATTGATCCACTGTATCAAGACTAACCA AAGTTCTAACTATATGAAAGGAAACTCAATTAAAATGAATTAATAAATTA TAAAAGTAATTTAAGGGGCATTTTAAAAAAATGCAGGGATCCAAAAACAA ACAAACACACACAAAAAAGATAAATGATTGCTGAATACTCATTACAGAAT CTAAAGTCTCAAATAGACAACCCCGTAGTGATCTATCTCTGTAGGGCATA TACATGTAGCATAGAGATTTAAAATCCTAAACATGAATGCTACCAGTCCT CCATTTCAAACTCGGGACAGACAATAGTAATTCAATATGGCAGTTTTTCA CAATGAGTACAGGTGCATCTTCTAGGCATTCTCAATAGAGCTACCTACTC CAGTATCTGCTATCCAGGTAGAAACTATTATCTAAATTCAGGTATCTACT ATCAATGATTGACTCTATTCTGCAATAAAAAATATATTTTCCATCCCTAG TATAGTGAAAAATTCTATTACCACTCTGTACCTCATTTACTCATCTATAA AAAATGGAGGTTACAATAGCTAAAAAGAGTTGTGGTAAAGCCACATATAG TGCTGTATGTATATATGTGATGACCATTATACAAATAATAGGTACAGAAA ATTATTTTTTGTTTATTTATTCATCCACTTACTACTGAGTGGACATTTAA TGTGTGTAGGACCCTGTGCTAGAATTTGGTCAAAGAAAGCCTATTTGGAT ACAGAGACTAATTTTGAAGGAGATACCCTAGTTAAAATATTCCTAAAATA AAGCATTAGTTTATTTAGCAGCTGTGTTTCCAATAGCTCTACTGAAGGAA ATCTTACAAAAGTTTTAAAAATGATGGTATATGCCGGGCGTGGTGGCTCA CACCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGCTGGATCACCTGAG GTCAAGAGTTCAAGACCAGCCTGGCTAACATGGTGCAACCCCGTTTCTAC TAAAAATACAAAAAATTAGCTGGTCACTGTGGCACGTGCCTGTAATCCCA GCTACTCAGGAGGCTTAGGCAGGAGAATCACTTGAATCCGGGAGGAGAAG ATTGCAGTGAGCC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02559.hp2 HG02622.hp2 HG01358.hp1 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0143 a0001c0001t0001g0208 a0001c0001t0006g0151 a0001c0001t0001g0143 a0001c0001t0001g0208 a0001c0001t0006g0151	3	332	0.0090	-4312	c.109 others(18): Show c.109-10951_109-6640del	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	1/8			chr6	TogoVar
RAVER2_chr1_64740075_64838232	64749458	GCCTCGGC others(4304): Show GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCG GCCAGTCCTGCATTGGATTCTATTCCACATTTATCAAACTACCTAGATCC CCAAGTACCTCATGCCACTGTGAATTGAATATTTATAGTTATATCTTTGT TTTGGAATGTATTTATAGTGAGTACTTTATAGTGAATAATATTTATAATT ATTTTTAATGAATAATTTATAGTCAATAGTAATGTTGCAAATGCTGGTTC CTATTCATAGCCATTGTATATGTGTGTGTCTGGTCTTTTGCAACTGAATT TAGAATTTTGATTGGTTGAGGTAATGTTTTAATATTTTTTCTAATATATG TGTTATTGTATTTCTATAAATTGTATTACGGTTAACCTGGTTCTGTTTCA ATATTGTTGTCATTGGGGTTTCAAAATGGAGAAAACAGGGGCATTTGCTT CTTAGATTATTTGTGTTCACTTAGGTTTTTTTTCTTACAGGTCTTATGTG TGTGCATGTGTTTTGTTTTTGTCATCTTGTTTACCCTAAAATCTTGAAGA GAGTCTCTTGTGAAATTAGAAGACAATGTGAAGTGCTTAGGGCCAACATT CAGGATCAGTAATAGAGGAAACAAAACATTCTATTGTCACTTTGGATATT ATAAACTTACATTTCAAAGTACTCTAATATGATAGTTAATTTGAGAAGCT TGATGGTTTATTTACAGAGACCCATTTGAAACCATAATATTACCAAGTAA GCACTTTTTAGAATCACAAACAACCAAATGTAAGAAACTCTAGTTAATCT TTTTTCGTAATTAAATTTTTTTCTGCTCTTTCTCTTTTCTTTTTCTTTTC TTTTTTTTTTTTTTAAAGAGACAGAGCAAGATTTCTCTGTCTCCCAGGCT GGAGTGCAGTGGTGTGATCATAGCTTACTGCAGCCTTAACTCCTGGGCTC AAGTGATCTTTCCATCTCAGCCATCTGAGAAGTTGGGACCATAGGCATGC ACCACTGTGTCCAGCTAATATTTTTTAATTTTTTGTAGAGACACGGTCTC TCTATGTTGCCCAGGCTGGTCATAATCTTATTTATAAAAGCTACGTATTC CTGTTTATACATCAGTATAAAAAAGAATTATCTTACATATTTTATGTCCT TTAACTGTGGGATTTAAAAATGTACTTTGTTTTCTCTAACAATATATTTG GTAATTATTGCCTCTTTTTAAAATAGGGCTATTATTCTCTACTTTTTTCC TGACAATATTGGGGTGTTTTCTCTTTTTGAAATTATCCTTTCTTTAAAAT CAAAATGCCATTGCTTACCTCCAAAAGTTACTTTTCTTAGTGTATGCTGT GCAAAAATTATCTATTAAATTTTCTTTTCTAATGCAATTAAACAGAATTG AATTATGGGTTCTACTTCTTTTTCATGTGTTTTGTTATCCTATTCTCAAT GTAACAAGAACACTGAAAGCTGCTAGGGAAATGTACTTCTAGATTTCTGG GACACCACTGTCTCCTTAAGTTTCTAGTTTTGGAAGAAATTCTTGAAAAG TGTTTGAGAAATGCAGTTCTCTGCTATGAAAACACATTCAAGAAGAGGAG GAATACTTTGTGGTTAGCATCAAAATGCTGTGTTAACAGCCATTCCAAAG AAATCTCATGTAATCTATAGCCCATTTCCCAGTTAATGACTGGGTTATGC TTAGAAATTCTTTTTTGAACTTGTGACATGTTTTCACATAGAAAGAATAT AGTAGATGGTATTTAGTTTTCAGGTTAGCATTTTAGCCTCTATTTAAGTT ATGATTGTTTATTAAGTGTAAGATTACACTAAGTAGTACGACAACATCTA ACAAAGCTCCAGCTTTGTGCAGGAGCAGAAACTCTCCCAGCTTCAAATCA TCAGTAGGTACTCCTGCATCTTATGGCAAAAGCTCAGGAAGAAGGGAATT TAAGGAAATTGCTCCTTGAATTAACAAGACTCAGATCAGGGAAGCATTAA ATGAAGTCAACTCTGATCAAAGGCTGTTACTGCAAAAGGGGTTCCTATTA CTAACTACCTGAGTTTTGTCTCTTGATTCTTCTATTTGCACTTATTCTTC TTTCCTTATGGACAAAAAGTTTTTGTTTTTCATTTTTAGATACGGGATGT TGCTATGTTGCCCAGGCTGGAGTGCAGTGGCTATTCACACATTCACAGGC ATAATCATAGTGCACTGCACTGTGGCCTCAAGCTCCTGGCCTCAGATCCT GTGCTACCAAGCCCAGCCTTGATTTTTTTAAAATCTTTACTTTATTTTGT AAATTTATTTTTAATTTTTAATTTAATTTTTTTAAAAAAAGCTTTATGCT TAACTTTCCTCGCTCAGCTAAAACAGGCAAACCAAGGAATATTAAAATGT AAATAAAATTATTTATATATTTTTAAATCCTAAAATTGCTTATCATGTGT CTCGGCTGTTTGTATTTTGTTTGCCTAATTACACAATTGCCTGACTCTAA GGAGATAGTATGAACTGAGAGGGGTAATAAGTGAGAAGTCGGAAGATCAG ATCACCTAGAACATTTGGCTATACAGTACTGTATATTTTTTGGCTGATGA TTATGGGCAGGATAGCCCTTGGTGGTTGTGCTGAATAGCTTCCATTTGCT CTTCCAGATCTATTCTCGACCCTTCTCACCCACTCCTTATCCAGGGAGGC TAACCTGTACTGTGGATTGCACCAACAAGGCTCTCTCTTATCCTCTGTTT TATGGTTGCACTTGGCCAGAGCCACTAGTGGGGGATCAGAGGGTTGAGGA GAGGAGCATTTATTCACCCAGCATTTATTCACAGGTGACTGTGGGTTGGC TGCTTCCTCTTTAAAAGTCGGTTTCTATCCAGTGGCTCCCTCCATACCAC CCAGCTCTCCTGGTTATCATAACCATTCTTCTTGTCTCTTTGGGTCCAGG AGGAGTACAGGAATGTTGCTAGCCTAGGATTTCTTCAAATCTTTGTAGAT AGTCTCTTTTAAAAGTTCTCCCCAGTTAGTTTCTGAGTGTGCCTTCTGTT ACTTGCTGGGGCCCTGATTCTGTTGCCTACTCAGTTGCCTTTCTTCCTCT TGCCTGTCCTAATTACACCCAGATTTCCCCTTGAAGACCTACCTCTTTTT TAGCAACTGTATGATTTGGGTGGATTTCATCTCTATCCCCATCTGTAGGG GTGACATAAACCAAAGAACACAGTTCTTCCCTTTTTCGAGAGGGATTGGT TAAAGACGGGCAATAACCTGGACCAAAGCCCATCAATACATGATAGCCCC TTGGTCATAGTGATTATTTCAGCCTGGCTTAGCAGACAAACTTAGGACTT GTGTTTGGTTGTTAAAGTAAGTGAATCTCTTTCTCTCTGCTGGATATGAA TGCAGAGACATATGGCTCTGGCTGCAGCTGACAGTCATTAAGGGAGCAGA CATGCAAAGGAGGACTGACCTTGGAGGGGAAATGTAGAGAAGCTGAGCTG GAGCCCTGATCGAACTATATCTGAAGCTTAACCTGCCTCTGGACTTCATA TATATGCAAGCCACTAAATCCCTTTTATTGTTTCACTTATTTCAAGTTGG ATCTTTTGTTACTACCAACCAATAGTATCCCAGATTAACAGGTTGGAGTA CAGTGGCACAATCATGCCTCACTGCAGCCTCGACCTTCCTCGCTCAAGCA ATCCTTCTACCTCAGTCTCCTGAGTATCTGGGACCACAGATGCATATAAC CATGCTGGCTAATATTTTGAATTTTTTTCTAGAGAGGGGATTTTGCCATG TTGCTCAGGCTGGTCCCAAACTCCTAGGCTCAACCAATCTGCCCTGCTTG GCCTCCCAAACTGTTGGGATTATAGGTGTAAGCCACCATGTCTGGCTTTT TTTAAAAAAAATATTTTTGTTTCAAAGAAATCCCCACAAATAAGGTATCC TATTCCATCTTCAGACAGCTTTCTTTGTTATAAAGGTCTTATTTATGTGT AATATATACAATGTATTCACTTGAAGTCTTGATCCAACGTCTACCCTCTG GCAATGTATAGAATTCTTTTTTTTTTTTTTTTTTTTTGGAAACGGAGTCT CACTCTGTTGCCCAGGCTGGAGTGATCTCGGCTCACTGCAACTGTAACCT CCGCCTCCCAGTTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTA GAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTT GTGATCTGCCCA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	362	0.0028	-4311	c.249 others(17): Show c.249+4090_249+8400del	RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227257297	TGCCACTG others(4302): Show TGCCACTGAATTGTACATGTAAAAGTGGTCAAAATGGCAAATTTTGTTAT ATGTATTTTACCACAATTTTTAAAAATTAGTAAGATATCAAAACCACTGA ATTGTATACTTCAAACAGGTGAATTGTTTGGTATGTCAATCATGTCAGTA AAGCTGTTTTAAAACAAAATAGGAAGATGCTGGGCACAGTGGCCTGTAAT CCCAGCACTGTAGGAAGCCAAGGCGGGTGAATCACCTGAGGTCAGGAGTT CAAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACCAAAAATACA AAAATTAAATGGGCATGGTAGTAAATGGGCGCCTGTAATCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATCACTAGAACCCAGGAGGCGGAGGTTGCAG TGAGCCAAGATTATGCCACTGCACTCCAGCCTGGGCGATTGAGTGAGACT CTGTCTCAAAAAAAAAAGGAAGAAAACTTTTTTAAAAATCACACGCAAGT TTGACAAGGTGGGTGAAACCTTTTTTAAAAAAAATTACACACAAGTTTGA CAAGGTGGGAGATACATACAGACCTACTAGAACTAAAAATGGGGCCGGGT GTGGTGGTTCACGCCTGTATCCCAATACTTTGGGAGGCCAAAGCAGACGG ATTGCTTGAGTCTAAGAGTTCAAGACCAGCGTGGGCAACGTGGCAAAACT CTGTCTCTACAAAAATACAAATATAAAAATCGGCCAGACACGGTGGCTTG TGCCTGCAGTCCCAGCTACTCAGGAGACTGAAGTGGGAGGGCCACTTTAG CCCAGGAGATGAAGGCTGCAGTAAGCTTAGAGGGCGCCACTACACTCCAG CCTGGGCAACAGGGTGAAACCCTGTCCGGGAAAAAAAAAAAAAAAAAAGA ACTGAAAATGGGAGCCTGACTATCCCCCCAAATAATTGTAACACCAGTCT TCTATACTTAAAAGCAGTTTTGATTTCTACTATATCACAAAATCACAAAA CAAAGGCATCCTTAAACCGAAACCTAGCTCCCCCACCCAGACTAAATCAG AAATTCAGAAAAAGTGTGCTGCAGAGCTGACACTTCAGGTAAATTATACC TATTGACTATTCTAATTTGGGGTAAATATGAACACAGAACAATAAATATT AACAATATTAAGTGTCTATACAGGGGTATACAGTTATCTTGTCATATGAT GATACCCTAAGTAGTATAAAGAAAATGAATCAAAACAAAGCTAAGGGTTA TACAAATCATTACTGAGCACTCCATTCATAATGTCTGGGATAATTTAAAA GATGCCTTAACAAGTTATAGCTGAGAGTTCAGAAATTCAATGATAGAACC AAAAGAATCATGTATCAATTACTTGAATATTTCTTATTTCTATGCTGCAT TTGAAAAAAAACTGATTATACGTTCAACTTATTCCTGAAAAAAGTTCATT AGCAATATTTAACAAAAGTGCTTTTATACAAAGATATGTTCTTAAAAATT ATATCCACCAAAAAGTTCATTTCAAGCACACTCTATGATTAAAATAATTT TGAATATAAAAGACAAATTGCAAAAGACTTTATATTCATTACAACAATTG AAAAAGATATAATAATCACTACGCTACTGCCCTTGACAAAAATCAAGGGC ATATAAGGGACTAATCAGATCTGTTGCGCTGGTAGATAAATGACATGCTA TTCTGAATAGATGCTATTAGTGATATTTCACAAAGTACTACATCATCTAA TGATAACAATACCTTGACTTTCTTCAGTGCTGTATACTTAAATGACTTCA CTTGTGGCACACACTTTCTGAGGTATCTGCCACGCCGCCTCCCTCCCTTT TTCTGAAAATCTCCCCCTCAGTTCTCAGGGGTGGGCCAAGTGCATATTGT GAGGCCCCATTTAACTGGCCAGTGTTAACTGAACCAATATGGAAATCTGA CCTAAGCTGGGGGACAAGTAATTTCAAACCTAACTCAGAGTCAGTCTCTG CAGATGATTACAAGAATTAACATACAAACTCAGCAAGTGTTGAGGCAAAC ATCCTACTATGACTCTAAAAGCAAAAGAGAAAATCAGTTCCACATAATGA AAGAGAAAAACAAAGCAGATGCATAGAGAAAGGCAAAGACAATGAGAAAA GGAAGTGTTCCGATAGCTTCCTTATTCCCGGTGTTCTGGCGATTCCTGAC ATTTGATTGCATCCCCGCCTTGTATTTCCCGAACAAGCCTGAATCTTACA CTAAATACTTGGTTTTTAGCTCACAACTAGACACGGTTAGCTTCCAAACT AATACGTAATTTAGTTATCATAAAATCCATAAGGTACATATTATTAACCC TCATTAATATTATAAGGCCTAAACATAGTATGTGACTTGCTGGCCTAAAC TTGACTAGTAAGTCACAGTACTACTATGACACTGCTAGCTCAGAGAAGGA CACACCAACTTAGAAGTAATAGCTTAGAAGTAATAGTTTTATGTAAATTA TGACAACTTGTCCAAACTTCAAGAATGTGATATAAAAATAAACAAAACAG AATCCTTTAATCATTGTCTTAATGTACTCTAGTTTTAAAAGTACTTCTTG GCAAAACAAAAACAAAAACAAAAAAAATTGATTTGGTACTAAGGACAAAC TTTCTGTGTGATAATAATAATCTTAGCAGGCATTATTTTATTGGGAGCCA TCTAAGCCAAGTACCATACTAAGAACTTCCCATTTTACAGAAAAAAAAAA AAAAGGTTTAGAAAGATAATATAAATTCCTGAATATTAAATACCTAGTAA GTGGCAAAGACAGGATTAAAACTCAGATCTATCAGGCTCCAAAAGCCTTT CCAACATAACAAGTTGCCTCTTTATTCCCAAAAGGTTTGAAATAAATACA GATGCTGAAATTAAGAGATTCAAAAGTGAAATAATTCTAAGTTAAATAAA AAAGATCTCTGAAACTGAAAAGAACAAAGTATGTTTCTATGTGAGTTCCT AAAACACTGCCTGGGGTTCATTGTTTACTGTTTAATGAACAGATAAATGA ATAATTCTAGAAGAAAAAGAACTCAAAGTTCCAATACAAAATGCCTGGTA TACCTTGCAAGGTACATCTTTCTCCCTACTCTGTGTAGCCCAAGATCCAA CAACAGAGTCTCCTTCAATTCTCCCATCCAACCTCCTTCCTCCCTACAAC TACTGGCCAGGTGGTAGGAACATAGATTGCAAGCCACTAGTGATAGCTAC CATGGTGTCAGAAAGAAAGTGTCCAATAGAAAGAGAGAGTGGAAAGGCAG AGGCATAAGTGAGAAGAAAAGATGAGAAATGAAGACAGAGTCTGAAGGAG TAAGATAAGGCCTGGAAGAGAACAGAGAGTGCTGGAGCAAGAAATTTTAA CCTTCCCTTCACCCATTATTTTCCTTCTTCTCTTTCGTCTCGAATTTCTC CAGTGGGTTTCCATTCTACCATTCTTCTTCTCCCTTATCTGCAATGGAAT AACATAAGAATCTGGAACCAACAGTAGGGCAGGAAAAGAGAATAATCCAT GCAAAAGGGAGACTAGAAGAGAATAGGGAAGAATGAGAAAAGAGTAGTTA ATAAAGCCATGTTAAAACTGTTATCAATTATGCCAGGCTCTGTGTCTAAA TTCTGTAATACTGTGACTATACATTAATGAGTTAAAATATACAAAGAACA AAGTTACAGGTGGTATATTTGAGACTTTTTACAATCACAGACACATGAAG GTTAAAAACAGTATTATTCACCTTTAAGCACCAGTATCTTTCATATTAAA ATTTTTTAACAGAATAATTGAGTTTTTCTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCACCTCACTGCAA CCTCCACCTCCAGGATTCAAGCAATTCTCATGCCTCAGCCTCTTAAGTAG CTGTAATTACAGGTGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAC TTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAATGCTGGGGTTACAGGCC TGAGCCACTGCACCTAGCCTGAGTTATTATTAAACAAAGTTTCAAAATAG TCCTTGTGCATATATGGGCTTGACAACACAGTAAGCAGTAACACAGACCC ACACATACACAAATACACATAGAAATGCTAAATAAAACAAACAACCATGA GAGATTTTAAATATACAATCAAACTAATGAAGGAGAAGAAAGGAAGAGAA ATCCCCAAGA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG02109.hp1 others(10): Show HG01106.hp1 HG01109.hp2 HG02109.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 NA19043.hp1	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0006 a0006c0014 a0011c0028 a0001c0006 a0006c0014 a0011c0028	a0001c0006t0011 a0001c0006t0026 a0006c0014t0011 others(2): Show a0001c0006t0011 a0001c0006t0026 a0006c0014t0011 a0006c0014t0062 a0011c0028t0011	a0001c0006t0011g0323 a0001c0006t0011g0325 a0001c0006t0011g0326 others(10): Show a0001c0006t0011g0323 a0001c0006t0011g0325 a0001c0006t0011g0326 a0001c0006t0011g0327 a0001c0006t0011g0329 a0001c0006t0011g0330 a0001c0006t0026g0346 a0001c0006t0026g0347 a0001c0006t0026g0348 a0006c0014t0011g0324 a0006c0014t0011g0332 a0006c0014t0062g0331 a0011c0028t0011g0328	13	350	0.0371	-4309	c.179 others(17): Show c.179-7451_179-3143del	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
NUBPL_chr14_31556404_31866224	31793809	TTTGTGCC others(4302): Show TTTGTGCCCCCTTATCTTTCTTTTTTTTTTTTATTTTTTTTTTTATTTTT TCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAG TGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCAC CTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTA CTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAA CTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACA TTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTC TTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTT ATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGG CTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACT GACTTCCACAATGGTGGAACTAGTTTACAGTCCCACCAACAGTGTAAAAG TGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTT TAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATAGCGGTTTTG ATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTT TTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCG CCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGT TCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCGAA AATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTT TTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTG TCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCAC GCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGG TTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTA TAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCA GTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGT TTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATT TTTGAGGCCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCA GTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAG GTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCA ATGCAGGCTCTTTTTTGATTCCATATGAACTTTAAAGTAGTTTTTTCCAA TTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGT AAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACC CATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTTCCTT GAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAA GTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGT TCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGC TTGTGATTTTTGTACATTGATTTTGTATCCTCAGACTTTGCTGAAGTTGC TTATCAGCTTAAGGAGATTTTGGGCTGAGACGAGGGGGTTTTCTAGATAA ACAATCATGTCGTCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAA TTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTT CCAACACTATGTTGAATAGGATTGGTGAGAGAGGGCATCCCTGTCTTGTG CCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATT GGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCCCAT CAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTG TCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTT GGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGAACC AGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTT TTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGC ATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGT CTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAGTTA GGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAAAGG TACCAGTTCCTCCTTGTACCTCTGGTAGAATTCAGCTGTGAATCCATCTG GTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATTTCA GAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCT TGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCCAGATTTTCTA GTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATT TCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTCTAT TTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAA TTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTTTGA AGGGTTTTTTGTGTCTCTTTTTCCTTCAGTTCTGCTCTGATTTTAGTTAT TTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTT CTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTC TTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAATGC GTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAAGA ACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGG AGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATTCTT AATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTGTTA TAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACTATG TGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTC TGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGT GCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACTTTCTGTCTCGTT GATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTAATGT GTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTTGCTTTATGAATC TGGGTGCTCCTGTATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCT TGTTGAATTGATCCCTTTACCATTACGTAATGGCCTTCTTTGTCTCTTTT GATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCC CTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCATCCTTTT ATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAATACA GCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCAGTCTGTGTCTTT TAATTGGAGCATTTAGTCCATTTACATTTAAAGTTAATATTGCTATGTGT GAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTTTGCTCATTAGTT GATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTTTGGCATGATTTT GCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGCGCTTCCTTCAGG AGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGCTT GTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTG GATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAATATT GGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCGCTGT TAGTCTGATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02451.hp1 others(4): Show HG01884.hp1 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0002 a0001c0003t0021 a0001c0003t0027 others(1): Show a0001c0002t0002 a0001c0003t0021 a0001c0003t0027 a0001c0005t0006	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 others(4): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0003t0021g0001 a0001c0003t0027g0172 a0001c0005t0006g0033	7	266	0.0263	-4309	c.607 others(18): Show c.607+5958_607+10266del	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
DLGAP2_chr8_732628_1713476	1393895	GTCCTCCT others(4294): Show GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGT GCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCAT CCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTC CGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTTGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGAGTCG TATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGAGCTTACTGAGCGCTC CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCA TCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTC GTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCCACCTCCTCATCCTCCGGGGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCACCACCTCCTTGTCCTCTGGAGTCATGTATTGAGAACTTACTGA GCGCTCCCTCCTATGTCCTCCGGAGTCCTGTATTGAGTGCTTACTGAGCG CCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCGTCATCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTCGTTCTCCTGAGTCGTGTATTGAGTGCTTACTGAG CCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTA CTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT TGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTC CTCCAGAGTCGTGTATTGACGGACCTTTGCCAGGTGATGGCACAGTAGTG ATGCTCATGGGCTGTGTTCTTTCTTCGGGATAATTGCAGCTTGAAACTCC TGGGCATCTGTGATTGGACTTTGGCAAAGTGAATGTATGTGTGTTGGAAT GGGGCGTGTGTCTTTGTTAAATGTGACGTTTCTGTTTTTTTTTTGAGACG GAGTCTCTGTGACTCTTTTTTTACAACTATTCCCCCCAAATGGAGACAGA TCAGTTTTGCTCTAAATGTGAATCCGAGGCCTCAGGAAGGCATTCGAGGT TTTCAGAACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCA CCTCCTCGTCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTGCCTCCTCA TCCTCCTGAGTCGAGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGT ATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTTGTCCTCCAGAGTCGTGTATTGATGTTTTTACTGAGCGTATC TCTTCATCCTCTCTTGAGTTGTTATTGATGCGCTTACTGAGCTCTCCCCC TCTTGTCTCCGGATTCTGTTTTTTCACTGCTTATTTTGTCTTTCCTTCTT CCCTTTTTTAGGTGACTGGACTTTGGCAAAGTGAATGTATGTGTGTTGGA ATGGGGCGTGTGTCTTTGTTAAATGTGACGTTTCTGTTTTTTTTTTGAGA CGGAGTCTCTGTGACTCTTTTTTTACAACTATTCCCCCCAAATGGAGACA GATCAGTTTTGCTCTAAATGTGAATCCGAGGCCTCAGGAAGGCATTCGAG GTTTTCAGAACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGC CACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT CA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG00639.hp1 HG01361.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0019 a0002c0001t0001g0018 a0001c0002t0001g0019 a0002c0001t0001g0018	2	39	0.0513	-4301	c.107 others(21): Show c.107-107434_107-103134del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF586_chr19_57764676_57785616	57774856	ACTACCTC others(4286): Show ACTACCTCACATGGTCTGAGTGCAAATCTCCCTCCCCACTCTGCTCTTTG GGATAATGTGTCCTAGCTTAACTACCCTTTTAATCAAGAGGACTAGACAG AGTTCCTGGTTATTATTTATTTGTAGCAGGTTTCAGTTTCTTTTTTTCTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACA GTGGCAGATCTCATCTCACTGCAAGCTCCGCCTCCTGGGTTCATGATTCT CCCGCCTCAGCCTCCTGAGTACCTGGGACTACAGGCACCCGCCACCACAC CCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACAATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCGGCCTCCCA AAGTGCAGGGATTATAGGCGTGGGCGTGAGCCACCGCACCCAATGCAGGT TTCAATTTCATTTCTACCCACAGAGTTACTCAAGCCAGTTGCAGCTGGGT GTGGTATCGCACACCTGTGGTCCCAGCTACTCAGGAGGCTGAGATGGGAG GATTGCTGGAACCCAGGAAGTTCAGGCTGCAGTGAGCTGTGATTGTGCCA CTATGCTCCAGCAGGAGTGACAGAACAAGACCCTGTCTCAAAAATTAAAA ATAAAAACAAGCCAGTTGCATTCTTTTATGGGAATCAGGGACTATCACAC CCTCTTGATTGAGCAAAGCTTACATACCACAATCCCTGGTTGCTCTTTTT TTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCCGTTGCCCAGGCTAGAGT GCAGTGGTGCCATCTAGGCTCACTGCAACCTCCATCTCCTGGGTTCAAAT GATTCTCCTGTCTCAGGCTCCTGAGTAGCTGGGACTACAGGTGCATGCCA CCATACCCAGCCAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCTTGT TGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGG CGTCCCAAATTACTGGGATTACAGGCGTGCGCCACCGCGCCCGGCCACTC TCTCTTATGCATAGTGCAACCCCCATGTGGCTCTCTGTGGTGAGTGGTGT CCTCTTCTCTCAAGCGCTGAGCATATTTGATTAATGAACTTTCGTGATGA CTTGTGTTCAGCGTCAGGTGTTGTGTTTGGCCATCATCATAACCCTAGGG TGAAACTCCTACTCTTTACCAGTAGAAGAAAGGGGGATTAAAATACTGTA ACTTCTGGCAAGACCAGAGAGAGGCCTATAGTGTGGGCAGTTAGGTGGTG GTGGCAATTGGCATGTGTCTGTGGTGTCCAAAGATGGGAAGGATGTGTAC GTACATAAGGATTATGTTTGAAAGGCCTCAGGCACTGCACTGGGATTCAT GTGACCTTTGCTGTACCAGGGGAATTGCTAGAAAGGAGAGGATGGAACCC TTTATTTCAGGACCACAGCATAGATACCTGTGTGCTTATCTGCCTCTTGT TGCTGACGGCTATGTGTCATGATTAATGGTCCCATGAGGACACAGTGGCA CTAGTGGGCAAAATTTCTCCTCTGAGTTGGGGATCCTGGGAGGAGGAGGA TGGGCAAGGGTAGATATGTTGGGGAAGTGGACTGTGGGTCTTCAGCATAG GGGCCATTTGTGGTTTCATCTATCCCCATCATAACAGAGCAGTGTGACCT TTGAAGATGTGGCTGTAAACTTTTCCCTGGAGGAATGGAGTCTTCTTAAT GAGGCTCAGAGATGCCTGTACCGTGACGTGATGCTGGAGACCTTGACACT TATATCCTCCCTGGGTAAGGTACTCATATTCACCTGTGACCTGAGTTAGT CTGTGCCCCTCACCTTTATGCCTTATCTCTTTCTCACACCAGGACCATGG ACACAGCTTCATTCTCCAGTTCTCTGGAGAGGTTCTGTTGTTGGTCGGAC TGAGGTGTACGTACTGCCCTGTCCTTTCCTTGAGCAGCCCCAACCTGCTT TGTTGCAGGCTTCCAGGGAAGGAGTCAGGGTCAGGAGTCTTAAAGTCACC CTAATGCCTCCCACCTTGGTTGTCCTCTGCCTGTCTGGGTGACTGTGCAG ATCCAAGGCTTCTGTTTGTCTCAAGTTCCGTTTCCCTCCTTTAGTTCACA TTTGTTCATGCTACGAATTGTCGTCACTGATGTGGTCATTATGTACATGA ACCACAGCCTATTCTTGCAATACCCTACTTCAAAATTCTTTTTGTAGTAT TTCATCAGGCACAATAACACCTGTCATCCCAGCTCTTCAGAGGCTACTCG GAGCCCAGGAGTTTGAGGCCAGCCTGGCCAACATAGCAGGTCCTCATCTC TAAAAATATATAGGAAGGAATTCTTTTTGTAATATTTAGTTTCTTTTCCT GTGGAATATCAAATGCAGAGTTGTTCTGAGCCAGCATTGGCTGTTCGTCT GTCCTATTTTTCCCTTAGTACTTACATTATCGAGTTTCCATGTAGTTGCT CATCTTGGTGGTGAAATGAAGAGCCCGTGGTTGTCCCTAAGATGTAAATG AGTCCAGCCTTAGCAAGGACTTGGGGCAGCTTGGTTCTGAAGAATAGCAT GTGAGTAAGGTCATGACATCAGGGCTCTATTCAAATTATGCCATAGACCT CTTCTATTTGACTAGTATTTTCATGCCAATAGAAGTAGCCCCACTTTATG TCTTTCCTTCCCCATTCTTGAGAGTGCCAGTTTATTAGTCCTACACCTTG TTGCTTCTGCTGTTACATCCAGCCCAGGACTAATTTTCATATATCTGGAC TCCACGTCTCACCTATTTTTCTCACGGCTCTGTCTGCAGTGGTCTTCAAT ATTGGCTCATGTATTTTGTATTACGAAGTATATACCCATTCTTTTTTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTTCCCAGGTTGG AGTGCAATAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCA AGTGATTCTCTGGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGGGCCCA CCACCACGCCCGGCTAATTTTTGGGGTATTTTTAGTAAAGATAGGGTTTT ACCATGCTGGCAAGGCTGGTCTTGAACTGACCTCAGGTGATCCACGCCCC TCAACTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCC TCTATGGAGTATATAATCTTTTTTTTTTTTTTTTCTTGAGACAGTTTGCT CTGTTGCCCACGCTGGAGTGCAGTGGCACAGTCTAGGCTCACTGCAACCT CCGCCTCCCAGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCGAGTATCTG GTATTACAGGTGCATGCCACCACACCTGGCTAACTTTTATTTTTAGTAGA GATGGGGTTTTGCCATGTTGGTTGTTGACCAGGCTGGTCTCAAACCCCTG ACCTTGTGATCCACCCACCTCGGCCTCGCAAAGTGCTGGGATTAGAGGCA TGAGCCACGGTTCTCGGCCACGTATATACCTATTCTTAACAGTCCCTGAC CAAAGGATGTTGTGCTCTAGTCATGTTGGGGGGGGCCTGGACATATTTAT ATAGTACTCACACGTCATCAGCAAATAAGGTTCCACAGGCAAGTTGTTTG CAAATGAAGGAGTTATAGACCCTGCCTTTATTCTGTCTGTTGACTCATTT AGTCATGCCCTTGACAATATGAGGCCTTCTATATCTGTGATAATGCTAAG CAGCCCCAACCTCAACCTGAACCCAACTCCCTGTTTGTGCAAATAATTCC ATAGACTAGTTTTTTGGTTTGTCAGATACTCTTGTGGGTAGGCTGCATAC TCAACAAAGTCAACATGTACCTCACCAGCATTTCTTTGCTTTTAGGTTGT TGGCATGGAGGGGAAGATGAGGCAGCACCTTCTAAGCAGAGCACGTGTAT ACATATATACAAAGACCAGGGAGGTCATAGTGGAGAAAGGCCTTATGAGT GTGGGGAATATAGGAAATTATTTAAGAACAAGTCCTGCCTCACTGAACCC AGAAGAGATCACAAACACAGGAATGTTCGCACTGGAGAAAGGCCTTATGA GTGCAGCAAATATGGGAAATTATTTCACCAAAAGCCTACACTCCATATTC ATGAGAGATTTCATACTGGGCAAAAGACCTATGAGTGCAGTGAGTGTGGA AAATCATTTCACCAAAGCTCTTCACTCTTGCAGCGTCAGACACTTCACAC TAGAGAAAGGCCTTATGAGTGTATTGAATGTGGGAAAGCCTTTG	A A	exon_loss_variant exon_loss_variant	HIGH	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0088 a0002c0002t0006g0088	1	408	0.0025	-4293	c.37- others(11): Show c.37-1684_564del	ZNF586	ENSG00000083828.16	transcript	ENST00000396154.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
NCOA7_chr6_125785960_125937034	125861898	GTGGTGGC others(4285): Show GTGGTGGCACATGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAG AATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTCCACCA TTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTTTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAGTGATAAGATGACAGGTAGGGGAGACGTG AATGAAGAGTCTGAGGATCAAAGGTGTTCTTGGTGAAGAGGATAGAACCA CGGGAGTAAAAACAGTCATCAAAGCTGGAATCAGATAAGAAGATGCTTTC ATGAGCTAAAACTCATGCCTAAGTGGAGAAATAAGAGCTTACCTTAGTTA GGCAGAATTATGGGGAATACTCAGTCCTCCGAATAACTGTAGCAAATGTT TACAGGTCATGAATAAATGATAAAGAGATGATCTTTTTAAAACATTATCT ACAAAGGAGCAAAGAAAAAAGAAACAGACTTCTTCATAGTGGTGAATGCC AGAGGAATTAAAATCTCTTCAGACTTATGAGGCAAAAGCTGTTTTTCAAG GTCAAAGACAAGACATTCTCAGACATAGAAGAACTCAAGAAAGAGACCTT TTGTGTTGTAGATTACCTTAAACAAATTTATGAACAAATTAGGTCATTTT GGCAGTGCCCACGTGAATGGCATTTTTGCCACTGTGGGCTTCAGTGGACT GTTGCTGCTTTTTTTCTCTCTCTTTTTTCTGTTTTCTACATCATCACTTT TGAAAATGTTTGATAACATTTTCAACATTATTGACTTTTCCATTCACACT GTTGGCAAAAACTACTTTACCTGTGGCTAGGTGTGGTGGTTCATGCCTAT AATCACAGCACTTTGGGGGGCCAAGGCAGGCAGATCACCTGATCAAGACC AGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAACATACAAAAAAAT TAGCTGGACATGTGGTGCATGCCTGTAGTCCCAGCTACTGGGGAGGCTGA AGCAAGAGAACCGCTTGAACCCAGGATGCAGAGGTTGCAGTGAGTCAAGA TTGTGCCACTGCATACCAACCTGGGTGACAGAGTGAGACTTCGTCTCAAA AAAACAAAAAAACAAACAAAAAACCCTACTTTACTTAAAAACTAAAAATA TTAAAAATATGGTAAACTGTGTTCTGTAGAAAATTGTTCCAAAAGGGAAA AGGAATTTAGAATCTAGAAATCAGTTATATTTCCTTAGAAACTCCAGTAG TTAGGGAGCATGAATGTTCACAGTTAAGTAGCTGTAAAACAAACACCCCT GAGTACACCTGTGATTGCACCAGCTTTGTTTCAAGGGACACTCCTTTCCT GACCTCTCACAGCCCCAGCACTCTAATTAACACAATATTTTGTAACCCAT TCTTGTCATTGTTGAAACAAAAAGGTACAGTCACTATACAAAAGCAACTG TATCTTAACAAGCCTGTTGTACTGTGTGTGAGCTTGAACTCAGAGTTTAG TTCCATTATAATCATAGTAGTCTGCATAATGCAAATCTCATACCCTACTT AATCTGTCTTGTTATATTCACTTGCATTATAAAAAATCTCATTGTAAGAG AAATGCCCAAATGTGGTTTGGGCTGAGGGAAAGATAACAAATAAACTAAG TACAGTCAGGGGTTTTAAGCTTTGAAAAATTAAATTAGAAGTAAACTAGG AAGGATAAAAGAGGAAAAATACTCTAATTCTGTCTTCGGCCTGCTCGATC CACAAAATACCATATAACTGAGTGGCTTATAAATAACAGAAATGTATTTC TCACAGTTCTGGAGGCTGGAAAGTCCAAGATTAAGGCACTGGCAAATGTG GAGTGTGTTGAGAGCCCATATCCTCATAGACCACCATCCTCTCACTCTGA GCTCACATGGTAGAAGGGTGAGGGGTCTTTGGCCTCTTTTATAAGGGCAA TAATCCCATCCATGAGAGTACTGCCAAGATGACCTAACCACCCCTCAATG GCTCCTTTTCCTAATACCACACACTTGTGGGTGAGGATTTCAACATATGA ATTTTGGGGGAACATAACATTAAAATCTTAGCAAATACATTGATGGTTGA AGAGTGATGTGGTCAGGTTTTTTTGGGGGGGGCAGTTTGGCTGTTTTTAT CAAGACCCTTTTTGCATACTCTTTGACCCAACAATTCTGTTTTTAGAAAT TCATCCTAAGCAAACAGTCATGAGCATATTAGAAGATTTAACTGCAGTAA CTATCATTGCATTGTTTAAAGTAGCAGGAATATGAAAAATAACATAAATG ATATAAAATGGAATACTATGTGCCATTTTAAAATGAAGTAGAAAAATAGT TAATGATATGGGAAATTTTCACCAAATACTACAGTAAAAAAGTCGGTTGA CAATAGTTACTGATTATGATTCCATTTTTGTTTAAAAAAATAATTCACCT ACATGCATATAAAAAGAGGTATAGAGAATTTCTAGAAGTGTATTCACCAG AATGCAAACATCAGTCTCTCTGATTGGAGGGAAAATGGATGACCTTTATT TTTTTTTTAAATTTATTTGTGTTTTAAAATCACTACTATGATCTGAATAT TTGTGTCCCCCCACCCACCCCCAAATTTACATGTTGAAATCCTACTTCCC AACGTGATAGTATCAGGAGGTGGGACCTTTAGGAAGTAATGAGGCCATAT GGGTGGCGACCTCATGATTGGGATTAGTGTTCTTAGCAAAGAGACTTCAG AGAGCTGCCTGGTTGAGAATGCGCTATCTACGAGCCAGGATGAGGGAAAA ATACGCCGAGTTTGCCAGTGTCTTGATCTCGGACTTCCTAGTGTCCAGAA CTCTGGGAGATAAATTACTGTTGTTTCTAAGCCACCAGTTTATGGTATTT TGTTATAGCAGCCTGAATATACTAAGACAATGGCTGTATATAGTTTTGAT TCACGTGAAATTGGCTTTCATATTTCTTCTGTTTTCTTCTGAAGTGTTCA TATGCACAATTATTGTCCTTGATCCATTTATGAAAAGAAAAAGCTGTTTT CAATAAAGTATTTTGGAGGGTGGGAAAGAGGGTAAGAAGAGGAGGAGAAG CAACATCAGACACGAGGAAGAGCAGAAAGAACTATTTTCCATGAATGTCT CCTTTGTGTTAGATCCTTTATTTCACTATTTAATTTAGGACTTATGATCT GCTACAAAAAATGTAGCCTATTTTACAAACGTAAAAACTGAGAAGCTGAG TAACTGGCCAGGGATCCACTGTTGGCTAGCATGCAGCCAGGATTCATACC CTGCCCTCTTTGGCACCAAAGCCTGACTTATTTCCACAAACGAGGAGGAC CTTCTCCATGCTGAGTGCAGTAGTAGATTCTAGAGCAAAACGTTTTATAA GATTGGTAACTTCCCTGTGCTTTAAGCCTTGCATTTTAGATTTTAGCACA GTATGACTCATTTTAGTCGAGAACTATGTTACCTGTGACTTGCTTGAAGG AAGGAAGGTAGGTAACATGTACTGCATGACATTTTCCTTTGTGCCACAGG TTAAAACAGAGTTCATATTGAGTATAGGGTTCATTCTTCCCTGACACATC TTTTTTTTTTTAATTTAATTATAACAGCTTATACTTTAGGTTTCTCTTAA AGTGCTACCTAACAATACTGAATGTTTTAATTGTGCTTTTTATAGAGTCA GGTCAATAATTTGAGATGTGTGCATCGCCAATAGAGAAGGTGTTATTTCT TTTTAAAGTTTATTTATTTTATGTTTTTTAAAGACAGGGTCTCTCTCTCT CTGTTGTCCAGGCTGGAGTGTAGTAGTGCAATCATAGCTCACTGTAGCCT TAAACTCCTGGGCTCAAGTGATGCTCCCACCTCAGCCTCCCAAGTAGCGG GGACTATAGGCATGTAGCACCACGCCTGGCTAATTTTTATATTTTCTTTC TTTCTTTCTTTCTTTTCTTTTGTAGACACAGGGTCTGCCCATCTTACTCA GGCATGTCTTGAACTCCTGTCCTCAAGCAGTCCTCCCACCTCAGCCTTCC AGTGTTCTGGGATTACAGGTGTGAGCCACTGCATCTGGCCAAGAAGACAT TCTTTAGGCAGATATAAGTGCTATATTTTCTTCAAAGACATATAACTTTA GGCCGGGCACAGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGACCAACAT GGAGAAACCCCGTCTCTACTAAGAATACAAAATTAGCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01175.hp1 others(59): Show HG00280.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02257.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18946.hp1 NA18950.hp1 NA18960.hp1 NA18972.hp2 NA18973.hp1 NA18985.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19077.hp1 NA19078.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0007 a0008	a0002c0002 a0002c0004 a0003c0003 others(3): Show a0002c0002 a0002c0004 a0003c0003 a0006c0011 a0007c0012 a0008c0014	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0012 a0002c0004t0002 a0003c0003t0003 a0003c0003t0018 a0003c0003t0019 a0003c0003t0020 a0003c0003t0021 a0006c0011t0003 a0007c0012t0003 a0008c0014t0003	a0002c0002t0001g0059 a0002c0002t0001g0131 a0002c0002t0001g0135 others(59): Show a0002c0002t0001g0059 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0255 a0002c0002t0002g0107 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0004g0137 a0002c0002t0004g0204 a0002c0002t0010g0133 a0002c0002t0010g0141 a0002c0002t0012g0143 a0002c0004t0002g0031 a0002c0004t0002g0152 a0002c0004t0002g0161 a0003c0003t0003g0019 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0051 a0003c0003t0003g0078 a0003c0003t0003g0104 a0003c0003t0003g0105 a0003c0003t0003g0109 a0003c0003t0003g0111 a0003c0003t0003g0112 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0118 a0003c0003t0003g0119 a0003c0003t0003g0120 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0130 a0003c0003t0003g0134 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0142 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0149 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0208 a0003c0003t0003g0226 a0003c0003t0003g0247 a0003c0003t0003g0249 a0003c0003t0003g0251 a0003c0003t0003g0256 a0003c0003t0018g0128 a0003c0003t0019g0210 a0003c0003t0020g0122 a0003c0003t0021g0207 a0006c0011t0003g0129 a0007c0012t0003g0113 a0008c0014t0003g0248	62	265	0.2340	-4292	c.271 others(17): Show c.271+6679_272-8679del	NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
GALNTL6_chr4_171808404_173046559	172067488	ATCTACTT others(4284): Show ATCTACTTGGCCTCTGCACTTGGACATCTAATTGGGAATTCAAACTTAGT GTGGTCAAAGCAGATGTCTTGATGTCCACCCCATCCCTCTCTTATCCTTA GCAAAGTTGTTCAGGACAAAAATATAGGAATCATTTTAATTTCCATGTTT CATATATCTATTACCTAAATATCCAACTTTAACTTTCACTGTTACCCACA CAATGGGTGGGTTCTATCCTTTGGTGAGTGACAGTCCAATGATCATTACC AAGGAAAATTTAACAAGGAGATTTTATTACCTGCAAGTAAGGAGGGCACC CAGGTTAGCTGCTAAAGCAGTGCCTTCCTGACCAAAGGTGAAAACAGAGC TTTCATTGGGCTGATTAGTTGAGCCATTGCATGTAGAAGTGGAGTAAAGG CAGCAGAGGCTCAGTCACCAGTCATGCTTGTTCATGCTTTGCATGTATTG AAAATGGTGAATCAGTTCCTCTTGGGGTGGGGGTGTTAGTATGGTAATGC TGAGTTCACCAAAGTTTATCTCCAACTCTGACATCTCTGGATCCAACAGG TTTTTGTTGTTGTTGTTGTTTTTCCTGGACTGTGCTTCTTCCTGGAACTT TTGAAACTACAAAATCTCAGGGTGAAACAATTACCAGTGGGTAGATTTAT ACAGTGTGTACCTGAAAACCCAGGGACCCTGGGTTACCTCGCCAACACCA CCTCTGAAACATGTTCTGAAAGTGTCTACTTTTTTCCCTCCTCACTATCC GCACCCTAGCTCAAGCTACCTCTACTACTTCGTCTTCTCTAATAGCTTCT TAATATACTATAGTAGCTTCCCTGCTTTATGTGTTCCAAACATACTCTAT CAGTCTCAGAATGAAATCTAGGCACCATGCTTGCTGCATGATCTGCTTTC TGGCTTCTGCCTGATGTTATCGCATGTTCTCTTTCTTAAGTTCTATGTTC TAATCTCCAATTTATAGAACATGCTGATCTGTTTCTTGCATTCAGGCCTC TGCATTCACTGTTTCCTCTCTCTAAATTAGAATGTTCTTTTGTGCCCTAC GAGTCCTGTGAATGTTTATCTCCTCCTATGAAAGGACTTTCCCCCACTTT AATTCTCAGTACTTCACTTCCTCCAGTCGCTCTTTATTCCATCACTCTAG TTTGTTCTTTTTTACACATTAATAGACACAATGTGAATCTGCTTACTAAT CTGCCCAGCCCTCTCCTTTATATTGTAAATTCCATTTCAGCAATGGCTTT GTTAGTCTTCCTCACTCTTGTATGCACAGCAGTTAGTAAAGATACTTTTG TGAAAGAATAAATGAAATTCCTTTACCCTTGAACGTGTAGAGCTCATTGA AGTCTTCTAACTTTATTCCCTAACATGGATATTTTACAAGGAGCATCTTT TAGCAGGCTTTGTAAGCAGTTTGGTGCCTGCATTCTTGTTCTGACTTTGT TCATCCATCTCTCTTGGCAGCACAAATCAGGGACAAGGAATCCCTCGTCT CCTCCTGCAGAAATGTCAGGTTTGGTTTGGTTGTCATCCACAGATTTTTA TTTATTCCAGCACACACTGATGGGCTAATGGGCCTCCTAAAGAGACTCAG CAGAAATTCTCCCTTCCAGCTGGAGACTGAAGAACTCTGGCTTAAATGAG GAGAAATCCTTGACAATGTTATTGCTAGATAAACTTTTATCCTGAATATG CAATTTTTTCCTATGTATTGATAACCTAGGTCATTAAAGATGATTAATGT CTGCCATATTCCACCAGCATTTAGAACAATTCTTAAAACCAGTTATAGTG GCACTAAAATTCATTCATCCAGCATTCAGCATAAAAGAGATTCTTTAAAA TTAACAAATCAATTATAAATATATGTAGTGTGTATATATATGTGTGTGTA CATATGTGTTATATATAACACATATATGTTATATATAACACACATATAAC ATATATATGTAATATATAACACACATATAACATATATGTTATATATAACA CATATGTTATATGTATAACACATATATGTTATATGTATAACACATATATT ATATATAACACATATATGTTATATATAACACATATATGTTATATATTATA TATATAACACATATATGTTATATATATATAACATATATATATATCCTAAA TTTCCTCATACATAGTATCTGACAACATATGTGTAATTTCTGCAGGAACA AGTAAGCCATAAATGGTGCTAGACACCTCATCCACAAAATTCCACTTAGA AGATTTGATATTTGCCTTGAGTTATTTAATCATTCCATAATAGTTGAAAA TGTACTCTATGGCAGGCACAGTTCTGGGTGCCAGAATCTGATATGGACAG ACAAGAAAACACACCTGCTTTCCTAGTTGTTCGGGGAAAAGTATAATAGG GAAATAAACCAGTACATTTATATTCATTATGTGATGCTAAGCCTTATGAA GAAAATCAGCTGGGTAAGAAGGTAATAGAAAAAGGGTGAACAGAGCATTG TATTCTCAATGGGTTGCCTCTCTGGCCTCTTCGATAAGGTAGTATAGGAA AATGTGAGCTATGGAGTCATCTTGTGGAGAACATTCCCAGCAGGAGAAAT AGTAATGTCGCTGTTTTGCTATTCTAGAAGTGGTGTGTTCTGAAAACGGA AAGGATGCATTCTGGCTGGAACAAAAAGATGAGATAACAATTTTGTTTTC AAATCATACTATTGTTCATAGCTGCTTATTGGCATTTCAGATTTGGGAAT TTGTGGGTTACTTGATTAGAAAGACATGGGAAATCAAGGACAAGGTTAAA CAACAAGAGAAAGAAATTAGAGTTCAATAAAGCAAAAACAGAACAGTGGA AGATGATTTAATAGTGTTATGATTTGAATATGTCCCCCAAAAGTTAAGGT GTTGGCAACTTCATCCCTCTGCTCTTATGAATGGATTAATGTCAGTTTTA TCCTTATGAATGGATTAATGTCAGCTCTACCTTCAAGAATGAATTAATGG ATTAATGTCACTGTCACAGGAGTGAGTTTGTTATATAAGCCAGCTCTGTC TGGCTCTCTTTCTCTTGCCTATTTGCCACATGATCCCCCACACCACGTTA TGACACAGCACAAAGGCCTTCACCAGATGCCAACACCATGGACTTGGACT TCCCAGTTCCCAGAACTATGAGCTAAATACACTTTTGAAAAAAATAAATT ACCCAGTCTGTGATAGTCTGTTATAGCAACAGAAAACAAAGTAAGACAGA TAGTAAAAAAGATCTCTGTTAATTCATGTTCTAGAAAGGATAAAATATAC TTCTAAAAGTATATTACTGAAAGCACTGTTTCTGTGATGACGCCTTCAAA AAATCATTGACTGGAAAACAAGTTTGATATATGCTTTGCTATGGTGACTA TAGAATAATATTATTTTATACTATATCCAGACATATGAGAGGTATAAAAA TAAATACTAATATAAAAAATACTAAGTTAGTTGTGTTGATCCCAGAATCA CAGAAACTTATTTAATCACAGAAGGTTTTACACATGTAATACATTTTGAA AACAATTGCCTCAGAAGTAAGAGTCAGATCTGATGTAGCGAGGTGAAGAC TGACTAATGAAGGTGAAAATTGTACTATAGTAAAAAAAAAGATCCAAATG CAATGGCTTAAATATAATGAGACATAGTTAGACTCAATGACATGAAGTTA TCCAGGTACCAAGGCTAGCATGGATGAAGTGGATGGTTGAGGGTGGAGGA TGGTCAGCTCTCTCATCAACGTGTGGTTTTCAAGGATTGTGCTATTACTC ATTACCTCTCAGCTGAGCCTCATCAACATTGGATACCAGCATTTTTCTTT GCTGTGTCCTGAAAGAAGAGTTTAATTATTGTTCATTTCTACACTGATGA TAAATGTGTGCCATCGTTATTAAAACATTATCCTGTCAGAACCCCTGTGT CTTACGTTAGCTTGTCTCATGTTCCTTGTACCCTACAATGTCACAAAAAA CAAAGCTCAAGATCAAGTATGGCAAATTCCCTTCAGTTGTAAAACCCTTT TGGTGTTCTGCTTTTCTCATTGGGTTCCACATTTAGTGTGTTTTGTTTGT TTGTTTATTTGTTTTTTCCTTATTTCTGGTCAGCCCATCAATGCATTTAA GGTAGTGTTTGTTGTATATAAATAAATTCAATTAGGAAAAAGGAAAAGCT ATTTATTCAGAGCTTGCTAGTGCAAGGGAGTCAGCAATAGTATCTTGCAT TTTGGCAGAGACTCAAATGCAGGCGGAAGAGTGGGAAAGCTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02145.hp1 others(16): Show HG02015.hp1 HG02015.hp2 HG02145.hp1 HG02258.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0006g0020 a0001c0001t0007g0006 a0001c0001t0009g0024 a0001c0002t0001g0016 a0001c0002t0003g0001 a0001c0003t0001g0005	19	40	0.4750	-4291	c.139 others(21): Show c.139-162166_139-157876del	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDS5B_chr13_32581452_32783019	32633394	TCTGTCTT others(4284): Show TCTGTCTTAATAAAACTATTTAAGAAAACAAAAACAAAACCAGCTATCCG TGTTTGGACAACACTGTCACAAAACAAAGTTGTTGATTTTAGCCAGGAAG CATATAAGGTAGATGTAATCAGTGAGACTAGATTCAGATTAGATTTAGTA ATATTAATCCGTATGCAGTCCCTCAAAACTAATGTCTTTCAGGAATATAT CAAGTGTTTATGTACTATAATGATTTTGTTAAGTTTTCCCCATTATAGGG AAATTTATTGAGAAACTTATCAAATTAAACTTTTTGGTGGACTTGACATC CTAATTTTTCTTATAACCCCTCCCCCAGTTTACTCATTATTAATATTTTA TTTACAAGGTACATAACTTTGTAAGCAGATTTGTTGAATATTTGTTTATC TTTATGGATACTGTGTTACTTTTAATGAGGTAGAATTAATAGTTGTACTC TCATTTGTCCTGTATACAGTATGGTACATTGGGTCCTTACATATCAATAT GGGTGGTACTTTTATGCCCATTTTATTGTCATCTTAAAGAGCTACATTGT AATGTTATGCAATGCCTCCTGGATTTTACTTCTGTCTCAATCTCTTTTCT CCTACTAAACTATACTTCTCTCCTGTTTTCTGTTATATCCTCTCTTCAAA TACTCTTATGTTATCTTCCAGTTGTTCAGAGCTTCCTGTTACTGCTTCAG TGAGCCTCTTGCAGTCCCTCATAGATTCCTGCAGTCTTCCTGTGTTCTAG CTGGTATGTCTTTGTCTTTGGAAATTCTCTAAAATACAAATCTCATTTCT CTTTAAATTTCTTAGAAAAGAAAGAAAAAAAATGACAACTGCCTTATGTG ATAATGACCAGACTCCTTATCAGAGACTTAAAGCCTTAGATTAACTGGTC CCAATTTCTTTTATAACACCTTCACCAATATGTGCACATGTATATGTACA TGCACAGAATCTAGTTGATTCACTTTTGTTTCAGTACTTTTTTCCTTTTT ATTCCAATTAGTATCATTTTGTTTATCCATTCACCAGTTAATAGACATTT GGATTGTTTGTTGTTTTTGGGCATTATGAATAATACTGCCATGAATATTC TGGTAAAAGTCTTTGTGTGGATATAGGTTTTCTCTTGGATGGACACCTAG AAGGGGAATTGCTAGGTCATATTGTAAGTTTACATTTAACTTTTTTTTTT TTTTTTTGAGAACAGTGTCTTACTCTGTCACCCAGGCTAGAGTGCAGTGG TGCGATCTCAGCTTACTGCAACCTCCACCTCCAGGGTTCAAGCGATTCTC CTGCCTCAGCCTCCCGAGTAGCGGGGATTACAGCGCCTGCCACTGCGCCT GGCTAGTTTTTGTATTTTTAGTAGAGATGGAGTTTCACTATCTTGGTCAG ACTGGTCTCTAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAGA GTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACATTTAACCTT TTAAGATACTGTGAAACGTTTTTCAAAAATGGCTGCAGCATTTTACATTC CCATAAAATATGAGGGTTCCAGTTTCTTCACAACCTCAGCAATATTTCTT ACTGCCTCTTTTTTTTTTTTTTTTTTTTTAAAGAGGCCGGGCCTTACTCT TGTCACCTAGGCTGGAGTGCAGTAACTTGATGATAGCCTTGAACTCCTGG GCTCAAGCCATCCTCCTGCCTCAGCCTCCTGAGAAGCTAGGACTACAGGC ATGCACCACCATGTCCAGCCAATTACGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGTGGAGATGGGGGGGTCTCACTGTATTG CCCAGGCTGGTCTAGAATTCCTGCCCTCAAGTGACCCTCCTGCCTTGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTATGCCTGGCCTGTCTT TTTTTTTTTTTTTTTTTTAAAGACGGAGTCTTGCTCTGGTGCCAGGCTGG AGTGCAGTGGCATGATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCA AGTGATTCTCCTGCCTCAGCCTCCGAGGTAGCTGGGATTACAGGTGCGTA CCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACC ATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCATGATCTGGCCGCCTC AACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTG GCCTTTTTGATTAGTGCCATTGTAGTCGCCTAATTAAGCTAAAATATCTT TGTGCCTTGAGTTTCTGGTTGGGCTAACGTTTTTGTTTCTGTTCAGTTTG CTCCGATTTTTTAGTATTCTGATTTTTTTTTTTTTTTTTTTTGAGGCAGA GTCTTGCTCTGTCGCCCAGGCTGGAAGTGCAGTGGTGCTATCTCGGCTCA CTGCAAGCTCCACCTCCTCGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAAGTGCCCGCCACCACGCCTGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCATGATGGTCTCGAT CTCCTGACCTTGTGATCTGCCTCCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCTCCCGGCCTAGTATTCTGATTCTTAATTTCCAA TTCAGCATTCCCTAAAGAGCCTGAAGTAAAAACGAGAAAACTTGACCTCT TGTCATTGCTCTGCCACTTACTACAGGGTGACTGTATGCGAGTTCGTCAG CTTTCTGAACTTCATTTTCTTCATCTGTAACATAGGGATGATTCCTACTT TTATAGAATTTTGAAGGAAAATGTGTGCATGAAAGAGCTTTGAAAACCAT GATCTGTTTTTAAAAAATTAAAGCTGTCATGCTTACGTATATGAAGTATC AGAAATGCTTACAGAGATAGTAGGCAGAATTAGCACTATATTGTAGTGTT AAGGCATTTGTTACTAAACTTGGCATGTAAATTTCCTCATGGAGCTTTTT TCATATGGAAGTGTTTGGGTCTGATTATTAGAGGATTCAGCAGTGCACCA GAGATGGAAAACCATTAGGTTAAGGGCATAGGCTTTGGAATCAGATATGG CTCAATTTAAGTTCAGTTGTTGATAACTTTAGCATAGTTATTTAACCTCT TTGAACCTCAGTTTCCTTGTTTATAAATGGGCATAATTATATAGTTCATC TTAGTAAGAACATTTATTCAGCTTTTGCTTTTTAACCTGCATTGTGTTAT GCATTAGGTATGTAGCAGTGAACAAATTAGGATCCCTAAACTTTTCTCAT ATAGTTTACAGTTCAGAAGGGGAAACACATTAGAGAATTTGTATTTACAT TTATGATAAATTCTTTGAAGCAAAAGTGCAGGGGTGGTGTGAGAGCATGC AGTCAAGATTTTATTTAGACTGAGTAGATTTGGGACAGCTTCCCTGATTG ACAGGTGAGACTTGAAAGAGCAGTGTTAGCCAGGCATGAGGGCTAGAGAA GAGAAAAAGTTTATTGAAGCAGAAGGAATAGCACACCCTGAGACAGAAGG ATCTTGGTTTAGTGTCTTCAAGGAATAGAGATGTGACTGGAGTGTAATGA GCAAATGGTCAGATTAGTATATTTGGAACTTATTCGAAGGGCAGTGAGAA CCTATTTAAGAATTCTAAGTAAGGCAGTGATATGAAGAGATTAGCTTATT AAGATCATTCTGGTTGCTCTCTGAAGAATGAGTTGGATGTGGTGTAGATT TATGTTGTGGTGAAGTAATGGCTAATGATTTCATTTACATTTTGAAGTAA TGTAAATGATTTCATTTACATTTTGCAAGGTAGCATTTATAGGATTTGAT TGTTGATTGTAAATATTGAAAGGGAATTGCCAAGCTTCATTCCCAGAAAA CTGTGAGGAAGAAATGGGTACATGAAGGCAACACACACTGAAGAGGGAGA GGAATGAAGAATGAGGATTTTTTTGGAGGGAGAAAAAAATTGGGAGACAT TTTGTTTAGTTTTGAGTATCTTGAGTTCGCGGTATCTTTGAGAATACCCA AGTGGAAATGTTAAGTAGACAATTGTATGTGCGGACTGGAGTTGAAAAGA GAGATCTTTATGGAGTATGTATTAAAAGAAAGCTTAGGGCAAAAGCCTTG GGAGAAGAACATAAACAGTAAAAAGAGAATTGAACTCTGATGAGTTAACT GATATTTGGAGGTTGAGTAGAAGAGAAATCAAAGGAGACAGG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	332	0.0030	-4291	c.-19 others(19): Show c.-19-15359_-19-11069del	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34			chr13	TogoVar
TEPSIN_chr17_81223277_81244055	81238942	GAGGAGCC others(4283): Show GAGGAGCCGTGGGACCGGGGCCCGGGCGGACCGCCCTCACTCACCCGGTG TAGAAAGCTCAGGCGGTCCCGTAGCGGCGGCGCGGCAGCCATGATCCAGG TCCCCTCCCGGTCTGCCCCGCTTCCGCCAGGCCCGGGCCCTCCAATCACT GCGCGGGTCTGGGTCCGCCGGCCAATCCCTCACGGTAGGGCGGGCCCTGA GGTTGGCTTCGTAAACAATTGGAGCCTAGGCCAATCCGAAGTCCCAGAGC ACAGACAGACTAGGACAAGAGCCAATTGCGGGGGCTCGAGGCCAGGCAAA GCCTGGCCAATTAAGAAGTTCAGGAAAGGTTATGGGCGGAAGCGCCGACC TATCAAGCTGTTTGACACCGGAAGAGGACGGACCTAAGATGGCGGCCTCC AGGGGGCTGGGAATAGCCGCTCATGTCGGCTAACGGAGCGGTGTGGGGCC GCGTGCGAAGCCGCCTCCGCGCCTTCCCCGAGCGGCTGGCCGCCTGCGGG GCCGAGGTGAGGAGCCGCGGGCGGGCCAGTGCTGCGGGGCAGGAGGAGCC GCGCGGGGAGGTGGCTGGGAGGGAGGACGGTGACGGGGTCAGGGGACCCC ACGACCCACGCCCGTCCTTTCCGCAGGCCGCGGCGTACGGCAGGTGCGTG CAGGCCTCCACGGCCCCGGGCGGCCGCCTGAGTAAGGACTTCTGCGCGCG GGAGTTCGAGGCCCTGCGGAGCTGCTTCGCCGCTGCGGTAGGTGGGCGCG GGCCCCTTCCCCCCTTCCCAGCCCTTCCCCTCCAAGAGCCAGCGGGCCCC GGCTTTCCTTTGCTTTCCCGTTGGTTCAAGGTTTGAGCGCCTGCCGCGTG CTTTAGACGCCGGCTGACAAAATCACCGAGCCATCGACGAGCCCGCGAAA CCTCGGCCGTCCTGGGCTTGTCCCTGCATGTTTGTAAAGCGGGACTGGCA CCAACCTCAGAAAGGATGGGAGATGTGTGCAAAAAAGCGCCTTGTAAAAC GCGTAAGCTTTCGTGTTAGCACTGCCGCCGGGGGGTGTCATGCCAGGATT GACCCAACACAGGACTCCCGGAAAGTGCCCAGCACCTTCCGGGTCTTCAC CTCCCTGGCACTTGCAGCCCCTGTGCACCTGCAGTGGTGGATTCCTTCAG CACGTGTCCTGCGGGGAACCCCCAGCCACCCTCACAACTGGCACGATAGG GCTTCTTGCCCGTGGGGCTTTAAGTCATTCTGAGGCTGGTTCCCTAAGTG TCAGCCGCACCGGGTACCACCTCAGTGTATCTGGGTAGGCCTTGATGCCA GTGCTGACTCTGTTTACTGGGAGCTGTTAATCCGGAGATTTGGACCAGAG AAAGGGTATTTGAACAAGAGTTCCACGGCCTTCATCCCTACCCGGCCCCA GCAGCCTTGGATCCAGGGGTGGACAACTCATCAGAAGTTGCACTTTTTGC TGGGTGTGGTGGCGCGTGCCTGTAATCCTACCGCTTTGGGAGGCTGAGGT GGGTGGATTGCTTAGGCCTAGAAGTTTGAGACCAGCCTGGGCAACATATG GAGACCCCGTCTCTACAAAAAAAAAGAAAAAAAAAATTAGCCAGGCATGG TGGTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAAGATCACTTGAAC CTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCTGCTGTACTCCAGC CTAGGCAACAAAGTGAGACTGCATCTCAAAAAAAAAAAAAGGGGGGGGGC TCCTGCTTTCCCTCTATGAGAGCTTGAGACCAAATGTGGCATCTCGTGGG GGCTCAGAGGAGGGGGCAGCAGTGAGTTCTGTGATAGTGTCATGAGGCCC TTGTCCCGTGGACAAGTGACCCAGAGAACCTGCCCATGGGGCCCCAGGCT CCAACCAGTCGAGCCCCCACCATATGCCAGCACCCAAGTTCTCTGTAAGG TATTTGGTAGAACACAACGTGTGGTGTGGTAGCTTGCTTTTGAGGCGTAT CTAACTTGGAAGCAAGCCATTCAGACAAAACACTTTATCTTGCAGGCCAA GAAGACGCTGGAGGGAGGCTGTTAGGAGGGACTCTGAGCTTCACACCTGT CTGCTGCCATGGGTGCAGAGCCCTAGTCCTGATGGCCCCTGGTGGCACAT ATCGAATGCCTAGGGCAGAAAGGAAGTGGGAATGGCGAAGATGTGACATT CCTCGGTGTTAGATCCTGTTTTTTCTTAACAAGTTGAGGCGTGGGTAGAG CAGGAATTGGTTTTCCAGCATTGTGTCCGTAAACCTGAGTTAGAATAAGA TGTAACGGAAGCCACGATAAAGACTCGGTCAAATCCTGCAGCCTGGGGCT TACTGTGTGCAGACTGCAACATGTGGGTCTTGGCCTCTCTGAGATGGAAT GGGGCCCAGAGCCTTTCCCCCAAAGCTGGCAGGGCTGGGACTTGGGGACA CCCTGCCTCAAGGTCCCCGTTTTAAAACACTCTCACTAAGGTATTTAATG TGAATCTGGTGAAGCCTGCAGACCTTGCTGTGGGTATACAGCACACACCA AAGACAAGGACGTCAGCACCACGAGGGGACACTCCATGGGGCAGGGTCCT CGCAGGTGGCTTTCCTGGACACGGGGCAGGGCGGAGGCTCTTCACAAAAG GGCCTGAGTCTCCGAGAGGGGCCTGCGTAGAGCACCAGCAGCCAGTGCCC CTCCTGTGTGGGGTTGGTCGCCCCCTCGGCAGCCCAGGTACTTCACCGAT GGCGCCTGCCCTCTCGTTCCCCCTCCCTATCACATCACTTGACCTAAAAC TAAGGTGAGAAGGGCCACATCCTGACTCTGCCCGGGCACTTGTTGATGGT GAGACCCCGGAGTCCATGGGGCCTGAGCGCCACCTGCAGGGCGTGGCGGG GACTGCTTTGAGAGCCCCCCTGCTCCGGGGTGCAGAGGCTGCACTTTCCT GGGGCTGCAGCCTGCGCCTGCCCCCAGGCCCGTGCTAGCGGCTGACCCCG TGGGCTGAGGTCTGTTCCTCCATGTTTCCTCCTCCAGATGCTGCCCCAGA ATTAACCTGGTTTCCCCTAAGGGTCTGATCTGGGTGGTGGGTCTGCAGGA GCCAGGCCAGAGTGCTGGATTTTGTCCCAAGGGCCAGGATAGTGTCACAT CTTGGGAACCACGGAAATCCAGACCAGACTCCTGGGGTCAAGCCACCGCA GTCCATCCCTGTGCATGCCAGACTCAGATGCCCTGCGCTGGCACAAACCA CCCGACCCGCCTCCCCAGCGTGCAGGGCCGGCTGCCCCCCACCCCTGCCT TCCTCCTTCTTGTGCCCAGCACTCATCCATGAGCGAGCCTCAGTGTGCAG ACGTCCTTTTCTTAGCCCTGTCACGCCCTCTCCGTTCTCTGGCAGCTCAT TGGCAGAGCTTCCTGCATCTTCTCCCTCCAAATCCAGCCTCCCATCCCAC CCACAGACCTGTCTTGCCAGCACTCCCCCTCGCTGTCCTTCACCCTGTGT GTGAGGTGGTGACAGACCTGCCACTTCCTGTGGCCCAGCGTGGCCCACAC CTCCAAACTCAGCTCTCAGGCCTCCGGGGTACACCCTCTTTTCTGCCACC CCAAATTTCCTTGCAAACCTCCCACCTTTGCTCTGCCCTTCCTCCCTGAG TGACTGGATTTCAGCACCACATCGATTGACAGCTCAGGAAGCTGGGCGGG TGGGGGGGGGGGAGGCGGGGGGGAGGGGGAGGGGAGGTTGTGGGGGTTCT GCTGTTTTCGCACCGCAGGGACAGTGTGGAGCTCTAACTGCTTCAGGTGC CCTTGGGCCGTCCCTGCTGCCCTAACAAAGCACCTGAGACTGGGTGATTT ACAAAGAACGGCCTGATTTTTCACAGCTCTGCAGGCTGCGAAGCCCGAGA TCCAGGCATTGGTACTGGTGTCTGGGGAGGGCCTTTGTGCCGTGTCCTCA CACTGCAGAAGGCGGAGGTGCAGCCTCTTTTATAAGGCTCTTAATCGTAC GAGCGAGGAAGGAGCCCTCGGCCTAGTCACCTCTTGATACTGTCACTTAG GCAACTCCTGAATTTTGGAGGGGACACATCAAACCACAGCAAATGCCTTG GCTCTCAGGAGATACCCAAAGTTCTTTGAGGGCTCAGCTCCGCTCAATCC GTCCCTGGGCCAGCGTGCTGCGCAAGTCTGTTCCCGCGCAGAAGTACACA CCGGCGACGGGACAGCGCTATCCCTGCTCTGGAACTGAGCCCCCAGAGGC AGACTCCACAACCCAGCGACCTGCACCAGGACTGACCAGAC	G G	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	NA18994.hp2 NA18994.hp2	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0012 a0013c0028t0012	a0013c0028t0012g0039 a0013c0028t0012g0039	1	364	0.0027	-4290	c.-41 others(11): Show c.-4199_48+43del	TEPSIN	ENSG00000167302.11	transcript	ENST00000637944.2	protein_coding	1/13			chr17	TogoVar
EDDM13_chr19_56267748_56315454	56290059	GTGGTTTC others(4278): Show GTGGTTTCCCCAAACTGGCTAATTATCTGAAACTTTTTCAAAAAGACAGA TTTCTTTGTTCTACCTGGACCTTCTGCATGAGAATACCAAGGGGTGGGTC CCAGGAATCTGTCCTTTCAAAAGGTTTCTCAGGTGCTTCTGATGGTTTGG CTCAGATGGTTTGAGAACTACTGAGATAAAGTAGGACTCAGCAGAAAGGC CCACTGCTTGTTTTTATAAATAAAGTTTTACTGACACACAATCACACCCA TTCATTTAGGTATTATTTGTAGTTGTCTTTGTGCTCTAATGGCAGAGCTG CATAGTTGTGACTGGGGCCATGTGGCCTGCAAAGCCTACACTATTTACTG TCTGACCCTTTAGAGGTCAGACATTTATTGACCTCTGAGCTAGAGCAGTG CTTCTCAGGGTCTTTGTTTAAAATTAGGGCCTAGGACCCTACTTCATATC TAAAGAAGGAGGATGTCTGTGATGGAACTCTAAGCTCTTGAGTTTGCTTC CCAAATGGTGATTCTTTGGGTTGGACACGGTGGCTCATGCCTATAATCCC AGCACTTTGGGAGGCTGTGGTGGGAGGAAGGCTTGAGCCCAGGAGTTTAA GATCAGCCTGGGCAACATAGGAAGACCCCCTTCTCTATGAAATATAAATA CATAAACAGTTTAAAATAGTTTTACGATATTGAATGGAGGAATAATTGAA TGTCCTATACTGCTGATTCTATTCTCTTGCTCACTCTTCTCCACACTGAC TCCCCGAATGCTGGTTCTGCTACTTCCTCCAGTAAAAAGTAAGTTATTTT TCCTTTCCTATGGGTCACTTGGAAGTTTTCAGGTGCTGGGAAGAAGAGGC AACTATCCAAAGAAGGGAATCTTTGGATAGTTCTTCTCAATGTAGAACAC AAGTTGAGAGGGACCCTCCATCTGCTGCTCCCCTCTCTGAAGGGGTTTCA GGGTGGGCTGCAAGCCCCAGATTGTGTGGAGAGCCGTGAGGGTGTGTCTG GGATACGGTGGGTCTGGGGCTACATGCAGGACTGAGTATGTGAGCCCTTG GCATATCACGTCCCCGAGCTCACAGGACCGTTGCCCCAGAAGACAAGAAA GCATTGAGTTGTACATATTTGTTGGGAGGGCCATTGAGAAGAGAACCAAA GAGGGGCACCTTGCTCCTTCCTCAAGCTCCCTCCTGACCCTCGGGGGAGA AATGAGAGAGAACCCTGGAGACTCAAAGGGATGCTCTAGTATCTTCCTAA TCTCTGGAAGATGAATCCCCACGGAAACTGAATACCTGGGGCTTCTGTCC ACCTGGATTAATGCGTCTCTAAAGGAGTAAAGTCTCAAAGAAGCATCTCG AGTCACCCACCCTGGGCCCCAGCCTATCGCATTAATCTGGAAGACACTTT ATTTCTCTTTTTTGGGAAGATCTGTTTTGAGAACCACAGGGTGGGAGGAG CTAGGAAGAAGGCGTTATTAATTTCTTCCTTTTCCTCTCCTCTCCTTCCT TCCTTCCTCCACTGCTGCCCAACAATGCCCACTGGATCTTCTGCTCCTGG CATCTCATCTCAACAGCACTGAAACCTAAGAGTCTTGTTTCACATTTGAC CCCTTCTGTTTTGCTCCTGTTCTCATCTCTGCCAAGGGAGGTCCACTCTT AGCCATGGATCAACTCTCAGCTTTTGACCATCTTTTTTTTTTAAACTCAA GAACTGGGAAAAAATAGCTATATTACCATCATCTTCAAATAGATGGGATG TCTCATGGAAACCAATCCCTCCTCGAATCAGGCATTCATGTAATGCCATG ATGAGGATGGTGATGACAGTGATGGAAATTTACAAAGAGCTTTCTAGGTG CCAGGCGCGAGGCACCAGAGCAGCACTTTTCAATGTGTTATGTGTAGTTA TTCCCCACAACTTCTTCACAAGGCAAGTATTATTCATCTGCACTTGACTG AGGTATAAAGGTTAGGTAACTAGATCAAGACTGGGCATCCCAGTGGTGAC GGTGGGTTACGGATCCTGGGCTGCGTGACTCAGCTGCTTAACCACGGTGC TGTGCTTCCTCCCACTGCTGTGTGGCTCAGACTTATTTTCCCCAAGAACA TCTCTGACCATTTCATCATGCTGTTCCCTGAAAAAGTCACTGTTTGCCAC ATGTGGGTAACATACATCTTTTAAAAAGTCTTGAAATTGTAGTAAAATAT ACAAAACATGAAATTTACCATTGTAACTTGTTTTCATTTTTTAGAGACAG GATCTTGCTCTGTTGTCCAGGCTGGAGCACAGTGGTGCAGACCTCCTGGG CTCAAGCGATCCTTCTTTCTTAGCCTCCTGAGGAACTGGGACTACAGGTG TGCATCATCACACCTAGCTAATTATTTTTGGTTTTTTTGTCTGTTTTTAC TTTTTTTTTTTTTACTTTTTTGTTTTGCTTTGTTGCCAAGGCTGGTCTTC AATTCCGGGGCTCAAGCAATCCTCCTACCTCAGCCTCCCAAAGCACTGGG ATCACAGGCACGAGCCACTGCACCCACCTTAACCACTTTAAAGTGTGCGA TTTAGTGGCCCTTGGTACACACACAATGGTGTGCAACCATCACCACTGAC TCCAGAACTTTATAATCACTGCCCCACCAAAAAAAAAGTACCCATTAAAC AGTCAGTCCCCATTCTCCCTCTGACCTCAGCCCCGGCAACCACCATTTCA CTTTCTGTCTCTGCAAGTTTGAGGATTCTAGGTACCTCATAGAAGTAGAA TCGTACACGATGTGGTCTTTTGTGTCTGGCTTCATCACTCAGCACAGTGT CCTCAAGGTTCAGCCACATTGTGGCCTGTGACAGTGCTTCACTCCTTTTC ATGGCTGAGCAATACTCCATTGCATGGATAGACTGCATTTTTTAATCCAA TCATCCACTGATTGAATTTTGGGTTGATTCTACCTTTCGGCTGAGGACAC ACTCTTCTTTTGGTCCACATTCAAAGCCATCTAAACCCCAGTTCTGAGAC ACCATCCTGTCCATGCCCCACACCCACCTCCAAACCCCACTTCTATGCAG CTTGAGCCTCAGTGAAACCCAAGACATCCTGATCTGAAAAAACAAATTGA AAAATGGTATCCTGCAGCTCAAGAGCACGTTCTGGGTACCAGGCATGGTT GTTAAGTGCTTGACTCATGACAGTCCCCAAGTCATCGTCCTTGTTTTACA ACTGAAAACACTGTGGTAAGAGAGGGAGAGTCGCTTGCTCATGGTCACAC AGCCAGTCAGGTGCAGAGAATAACTTAAGCCCAGTCTGGATCCCAAACGG TGCTATTAAACAATGCAAACTCAAAAGTGTTCAAAGCGGCTCAGACTAAC GAGGTCCCTGCCTCATCCCTACACTGGAAGTATTATCATTATAATTGTAT GTTGTATATATTGTAAGGAAGATAAAATTATGCTAAGAAAGGGAAAGAGG AACTGGCAGAGAGTGTGCACTGTGGGCGCCGGTCCTGACTGCACCACTTT CTAGTTCCGTGGGCTTCGGACCCTCGCCTCCTGAAGGGCTCAGGCCCCTG GTCGGTACAATGCACATAATAGTTCCAGCCTCATATGGTTGTGAGGAGTA AACAGGATCATGCACTTGGCAGGATGATTCCCAATTGGGGAGATTTCGCC CCTCAGGGGACACCTGGCAATGCCTAGAGATATTTTTGGTTGTGAGGACT CAGGGAGGTGGTAGGGGAGGCTAACGGCATCTAATGGGGGGAGTCTCGAG ATGTTGCTACACATCCTACAATGCACAGGACACCCCACCCCCACAACAAA AAAACTATCCAGCCCCAAATGTCACTCGTCTGGAGGTTGAGAAACCCCCC GCTGAATAAAATGTCTGGCACGGGATAAGAGCTCAGCAAGGGTCTGTGAG GACCACCTCATTTACCTTTGTTCTGAACACTCCCATGTCTGCAGGAGGCC CCTCTGCCTTGCTCCTTTCGCTCCTTTTCCCAGGCCCTTCTCCAGCCTCC GTCCTCATGCTGCACTGACAGCACTTTGCAAACTGAAAGCAGACCCAGCA GGAAAATCCCAAACACCTGCCTAAGGGCCCACCAGGTGCCAAGCAGACCC AGCCCTGCTCCAGTAACGAGCAAAAGCCAAACCCAGCAGGAAAATCCCAA ACACCTGCCTAAGGGCCCACCAGGTGCCAAGCTCTGTACTGGGCGATTCA CGTGGGCTCTTTCTCCCGGACCCTCACATTAACCCAGGATGCAAGTGGTT CGGTGGAGACAGCCTGAGTTTTAAGGCAAAGAGGCC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19004.hp2 NA19004.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0105 a0006c0006t0001g0105	1	394	0.0025	-4285	c.227 others(16): Show c.227-778_233-1612del	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
RAI14_chr5_34651328_34837612	34700132	ACATTTTT others(4278): Show ACATTTTTTGTTTTAAAATAACAAAGGGTATGATTTAGCCTAGGTTGGCT GTGCTTGTGAAGGTTTGGTGCACAGTTTTCCCCTGGGTGGTGGTTTCTGA TGCTGGGTTCAGGTCTTTGGGAGTTGTAGGTGCCTGGTGAATAACTGGAG GGCGGACTGTTTTGTAAGCTCTGGTCAGTGTTCAGTGAGTTAAGTCCAGC AGTCATTGGAGTCTATTGCTGTAGACTCTTGCCTTTTTAGGTGCATTTGG AAAATCCACCTAAGCCCTTTCCCCATGGTGAACAAGTGGCTTTAGGTGGC AAGTGGCAGTCTTGGACACAGTAGGACATGTGGGATACTTGTCCTTGCTC TCCCTGCAGTTCCAGCCCAGTTCCTACACTAGTCATTGTGTTGAATGAAT GAGTGACTAAATGTAAAATGGAAATACTGACAGTTTATCGTCAACACCCT GTGGCCCCTCTCTGTTCAGCATTTACCACTTTATCCATGTAATGGACAGA AATAAAAGGTCAGTAGGGTTTTCTGGATGTGTTTCCTTTAGGATGCTCTG CATGCCCTCTTGGCCATGTCTGTGCTGTGTGAAATTAACAAGTATCATTG GAGGCCTTGGCTTGTTACCTACAATCTACCTGTGTGCTTATTTTGTACCC AGACTGTGAAATTATTTTGTATCTATAGCTCATTAGCTCAAGTGGTTGAA GAACCACACTAAAGAGCCACAGTTATGAATTTAGACCTTGTGTAGGCTAA TTAACTAGCCTGTGTTCCTTGGGCAGAAAATTACCTAAATTTAGACCCAA TTTAACTGACTGGCATCTGTGTCTGTGGTCAAAAAAGAGACTGACTTCTT AAGAGCATTGCAACTCCTTACCAGAAACATAAGAAAAGACAGTCCTTCGG TCCTGGTTTTGATGGGGCAGCTATGTCAACCTCATGTAAAGGACACTATT GAGGACGAAACTCTGATTTTTTTATCTTGCACAAATTCCTATGTAGGGGG TCTGGGGAGTCATGCCCTACAAACCATGAATTCCCATCAGATGGGTTTTA TTTAACCCTATATATCATGACTTATTTTCCAACCTGACTCTGGCATAACA TTACGAGACAAGGAAGAAAATTAAAATATTTTACCCTAAAATATGTTTAT TTGCCATATTTTGAAATGGCCCTGCAAAGCTCCTTCTTTGTGGGGGGAAA ATGTGCATCTGTAAAGAATCTCTGTTAACATAGTTACATCTTTTTCTTCC AGACCCTCCCAAATTCTAAAGAGATTAAGATCTGAATAGGAAACATGTGT CATCTGTTCCCTCTAAGGACAGCCACTGTAAGACTTCAAAAGAACTTTGG TCTCCACAATCTTTATCTTAACCTGAATGTTCCCTTTCTACCAATCCCAA GTCTTTAGACAAACTCAACCAATTGTCAACCAGAAAATGTTTAAATTCAC CTACAGCCTGGAAGGCTGCTCCCCCGCCCGCCTTACAGTTGTCAAACTGA TGTATTTCTTAAATGTATTTGATTGATGTCTCATGCCTCTCTAAAATGTA TAAAACCAAGCTGTGCCCTGACCACCCTGGGCATATGTTCTCAGGACCTC CTGAGGGCTGTGCACAGGTCATGGTCACTCATATTTGGCTCAGAATAAAT CTCTTCAAACATTTTACAGAATTTGACTCTCCCTTTTTTTTTTTTTTGAG ACAGAGTTTTGCTCTTGTTGCCCAGCATGGAGTGCAATGGCATGATCTTG GCTCACTGCAGTCTCCACCTGCCGAGTTCAACTGATTTATCCTGCCTCAG CCTCCCAAGTAGCTGGGATTACAGGTGCCTGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTC TTGATCTCCTGGCCTCAAGTGATTCACCGGCCTTGGCCTCCCAAACTGCT GGGATTACAGGCCTGAACCACCACGCCCGCCCAAGAGTTCAACTCTTTTC GTCAACACTATGATTTCATTATTCAGTTCTTACACATTTGTGAGTCATTT ATCCATAGTTTGTCAGAAAGACTCTAGACAACCTCCTCCTAGCTAGGGAA GAAATTCTCCAGAATGGTCAACCAACTCTCAAGACAGAAACAAGTCTCAA TTCCAGCTTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATATGAAA AATTAGGCTGGTGTGGTATGCGCTTGTATTCCCATCTATTCAGGAGGTTG AAGCAAGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACCTAG AACGAGCCCCTCACGCCAGCCTGGGCGATCAAGCAAGACCCTGTCTCAGG CGGGGGGCAAGTGAGCGGGGGAAGAAACAGGTCTCAAATATTTAATCAGG TTAAAAGCAGTGAATGTTCAGTATCCCAGGCTCTGTTACCTTAATCAAGC CCATTATGGACCCCGTTCACATTAGCATCTCACTTCTCTACTACAAACCT GTGCTTTATAAACAATGCTCGGGTTGGCCACTGTTATAATTTTGGACACA CTTAAGGAAAGCTATGGCAAGTAAATAGTCTTTTTGTTTTTTTGAGATGG AGTTTTACTCTTGTTGCCAGGCTGGAGTGCAATGGCATAATCTTGGCTCA CCATAACCTTCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTCTATAT TTTCAGTAGAGACGGGGTTTCTCCATATTGGTCAGGCTTGTCTCGAACTC CTGACCTCAGGTGGTCCGCCTGCCTCGGCCTCCCAAAGTGGTGGGATTAT AGGCGTGAGCCACCATGCCCAGCCATAAATAATCTTTAAAAAGGAATTTA TTGTAGTATTATTTATATTAATGAGAAACAAAGTGTAACCCAGATGTTGG GAGTAAACAAATTGTTATATCCACAGAGAGGAAAGTTTTAGAGTCATTAA AAATGTTAAGCTTAAAACTATGCAGCAACTGGGAAAATGCGTATAATAAA ATAAGTGGAGAGAAATTCAAGTTACAAAATTGTACATTACATTATAATTA CAACATATAAAAAATGCATATGGTATACATCAACACCTCTTCTTAGAAAT ACTAGGGAAATAAGGATGGGCATAAATATTTAGCTTTAAGGATATTCAGC ATAAAAAAGACCTAAAAATTAGAAACCACTTAAGTAAAAATTTGTTGAGT ATATTTTGGGTATGTATTCCACAACCATTTAAAATGTTGCAGAAATTCAT TAAAGAAAGCTGTTTTATGTATTATTACTAAGAGACAAAAGCAAGTTCTA GACATGCTTGTGATGCTTAAAATGCTTTCAATGTGTTTCTATTTCTTAAA AAACAACTTGGAAGATATAAACAAGGGTGAGAAGTCTCCAAAGACAGATC CAAGTTTTGTGGAGCCTGAGGTTTATATAAAAATCTATGGGAATCCTTCT TTAAAAACATCTTACTTTTGCAAATTTTACAACAACAACAACAGAAAGAA TATACTATGTGAGCATATTGGTAGGCCTTGCAAGGGGCCCTGAGGTTTAA GCTTTAGTTGCTTTATGGGAAATTTTCTCCTGGGCTGTAGGTCTGCATTT CGGGGGCATCCAGCACACTGCTTCAGATTCTAGCAGTTACCTTGTAGGCA CTCAGCTGATAAAGATACAAGCCTCGTAAATTGCCCTAAAGAACAAGCTC CTTTAATGTGATGGTTCTTTTATTTACCTCAATTGAGTACATCCATCTTT GTTGTAGTTCAGTGTTCTCCGAGTGTGATGCCTGGACCATCAGTATCAGC ATACTTGAGGAATTGTTAGAAATGAACATTGTGGGGCTCCACCCCAGAGC TACCTAATCTGAAATTCTGGAAGTGCGGCCCAGTGATCTGTGTTTCAAAA GCACCTTCCCACCTTAGGGGATTCTGATGCAAATTGAAGTTTGAGGTCTA ATCCGGCTCAGTCGTTGCCAGCCCTCATTACAATACCAGGAAAGCTTCTT AAACTACTGGTTACTAGCTTCTGCATCCAGAGGCTCTGTGTCCAATGAGA GAGAATGTTAACTCACCATGGCAAGCAAATAATTTACAGATTATGGCACT TTGAATAGAAAGAGGTTTAAATGGATGGCTGTAGAGATGAACACTTCCGT CCGGGTACTTTGTCCTGTTTGTCTTTCCTAAACTCCTCCAGATAGTCAGT ATCCTTAATTACTTGACTGAATAGCTGGACAGTGTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0032 a0002c0008t0005g0032	1	252	0.0040	-4285	c.36+ others(17): Show c.36+13178_36+17462del	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	2/17			chr5	TogoVar
PHC2_chr1_33318626_33436095	33406643	TAGTCCAT others(4273): Show TAGTCCATTTACATTTGATGTAATAGAGGCAAACTCTGTTTTTGTTTGCC TCAAAATGCCTTTAATTTTCCTTCTGGGATACCCATCTGAGATAAATTTT CCTTCTGCCTGGGTCTACTTGTCAGAAGAATAAATTTATTAGGCTTCTTT AATCTGTGGATTGCTGTTTTTTATCAATTAAGGAAAATTCTCTGCTACCA TCTCTTCCAATATCCTCTGTCCCAAAACTCTCTTTCCTTATCTTCTGGGA CTTCCATAAGGGTATGTTAGTAGGTATTCTTATTCTGACCTGCATGTCTC TTACCCTATCTTGCATATGATCTATCATTTTCTCTTCTCTGCTACACTCT GGATGATTTCTTCAGACTCATCTTTCAGTTCTGACCTCAGCTGTATATGA TCTACTGATTAATATGTTCACTGAGTTCATAATTTTGATGGTTATATTTT TCACTTTTGTAAGTTCTATTTAGTTTTAAAACAATCTGTTACAATACTTT TTATAGATTCCCTTCTTGCAGATATTTTCAAGCTCATTAAAAATCTCTTT ATACATAGTCAGGATAGTTACTTTACAGTCTGTCTCATGATTGCAATTTC TGAAGTTTCTGTGGGACTCTGTTGTTTCTGCTGTTTACTACTCAGGGTAT CTTGTTATTCTGTGAAAGTGTTATCTTTGACTGTTGGTCATTATACTAGA AAATAAATATTTTCAAGGTTAATAAATGTCCAAAGATAATGGCTCCATTC TCTAGAAATGATTTTTTTTTGATTCTGTCAAGCACCAGAAACCACTACTA GTATGGAACCATCCTAGTCTATCTATGTCAAAAGTTTGAGGTTCCCTGGA CTACCTGAGTAACACAAACTTGAGCTGCTCCAGTAATGGTTTACTTCTAG TTCACTCTTACTTTGAAGGTGGAGCACTTGAGATTCCTGGATTAAACAGG GAGGTGGTTTATCAGATTTCTTACCCTGGGCAGGCTCTCAGCTTTGATTC CTGTCTTCCTTCCCCTATAAGACTACCAAAAACTCAGCCTGACTACACAG ATATTTCATTCAGACTAGTAAATGCCTTCAGAGAGAGAGGTATTTTTAAA ATTCATTATTCTAAGAGATAGTATTTTTATTTAAAAACAATTGCAGCAAA TTTACATACCTAATAATCTTAACACTTTAAAAAAATGGTACAATCAATGT GTTTCATAGAAATAGATGAAGTTAAAAACAATGAAGTAGTCATCAGGTTA GCTTTCTCAGGAGCTGGCATTCCTGATACCTGTGGTCAGGTTTCTGGCCT GTCCCTGATCATGTGGGTCTAGAGCACAAACAAGGTGTGAGGGGGGAGAA AGAGGCTTTGAATGGTGAGTTTACCTCGTGGGTTCTTGTTTTACCCTAGA TTTTGGCCCAAGCCTATTTTATTATTTTGTTACCTTTTTAGTACATGTAA GAAAATTTAAAAAATTTATTTCTCTCAGTTTTTTAAGTTGTCCTTGTCAT CCTAATTATCTAGCTCGCCATTACTGGAAGTGAAAGTTTCTGGATTAAGT GTGATGGAAAGCTGGAGAGGGAGTGAATCAGTTAGTCTATTTTTGTCACA TCACGTCAGAATCTGTTCACAAGCAAAAAGAATAACATATTTAAATCATC AACCAATAAGAAAATAGTTTGAATTGTATGAATTTATTTGCACTAGTTTG CTTCAAATGGAGCTGCACTAGTTTGCTTCACATGGATGTATGTTCTTTCT CCTGACTAGACAGTAAGCTCTTGAAGATTAGATACCCTTTCTGTTTTTAG TAGTTTTTTTGTTTTGTTTTTGTTTGTTTTTGTTTTGAGATGAAGTCTCG CTCTGTCACCCAGGCTGGAGTGCAGTGGGACGATCTCGGCTCACTGCAAC CTCCGCCTCCCAGATTCAAGCGATTCTCTTGCCTCTGCTTCCTGAGTAGC TGGGACTACAGGCATGTGCCACCATAACCGGCTAATTTTTTTGTTTGTTT TTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTC CTAACCTTGTGATCTGCCTGCCTCGGCCCCCCAAAGTGCTGGGATTACAG GCATGAGCCACCGCGCCTGGCCTGTTTTTAGTAGGTTTTAAGTATATCTC TCATCCTTTCTCTAGGACCTGGGACAAAAAGATAAAATGCCAGTCTTCTT GACTTCCTTGTTACCATCCCAGGGCTTGAGAGCCCCAGGAGAGAACCAGA CTCTCAGGAATTCATCTCTTTCCCCATCTCCCACCTACTTGTTGTAGACC ACTAGTTGAATACTGAGAACAATGAGAACTACTTTACATGAAGTTTGAGA ACTTAATCAGAGTGCAAGAATATACAAGTAAGTAAATACAAATACAGAGT TTGATACTGTTCAATCATGAGTAGCTTAGAAGTCAAATTTTCTCATATAC TCACTGCTGAAAGACATATAAATTGGGGTATATTTAAAAAATATACATCT AGAGCCATAGTATTTTACATAGGTTTTAACCCAGTAATTCCATGTTTATT AATTTATCTTTAAAATAATCCCAGGGGTTCACAAAGATTCAGCTACCTGA GTGGTCATTACAAGAGGGGAAATTGAAGATTTAAAATCCCATTGGTAAGG ATTAGTAATTGTACTTTCATATAATAGAATATCATATTTAAGGACACAAA AAGGTTCATAGTAAGGTGATAAAATCAGTTTAAGAAAGAGTGTGTAACAA GATCTTTTTTTAAATAAGAAAATGTATGCACTCATAAATTTAAAAAACTA GAAGGATATAAAACAAAACATTAACAGCATTACTTCGGGGTGCTAGGATA ACAGGTTTTTTCTTGACTATGCTTATTCCTCTCCCCCAAATCTTCTATAA TGAAAATATATACTTTTGTAATAAAAATAACATTCATTATTAAAAAATAA ACTAGAGTTCCCATATCTAATAGGCCACCTCAGACCAGCCCTTTCCAGGC CCAATCTATCTATCACTGGTTGGCAGAGAAGTCCACATTCTTCCAATTCT ATAGTCTGTCCCACTTGGTCCATACATAGGTTTTTAGCCACCAGAAGAGT AACATTCATCCATCATTGGATAGGTGTCTCATAATATATATTTGGTGAAC TGAACTGATTGCAGAGAGACAGAAATTTATTCACATAATGCTAACAGAAT GTCACATACTTAAAACGTGATAGTTTTCTACCATTTTAAACTATCCTTAT AGGCATTATATTATCTCTCACACTCAAACTAAATAAAAATATTTTGAAGA ATACCCAAAGGGGAAACTATTACTATAATGACCTCATGTATTTTCTCTGG AAGGTCTGTTTGTTGAATATTTAGTAGTTTTGTATAGTGCCGGTCAATAA GGCTTAATTGCCTCTGCTGCTGAATTGCTTGTCACATGGAGAGAATCAAA CCTGCCCCCACTCCTTTATGGAAAAAATGAATGCCTGGAATGAGCTGGAA TTTCCAGGAAAAACATACCAGTTCAATTTGTATTAATCCCTGTGGGATTA CTGCACTGATGTCATTTTTAATATGCCTTACTCTTCCCCTCTGGTTGGCA TGATCCATCATCTCTTTCCTCAGCTGGCTTTGCTGCTTTTCCTTGGAGAG CAGATTGTCTTTGTGAATGACTCTCTCAGGGAGCATGTGCAGGAGAAGCC AGAGCCTCACTCCATGGGAACGTAACAGACAGAGCTAAAGAATGGGCTAA GAACAGCCGCTGAATGGAACAGGTCATGCTGCTTCTCGAAGCTGAAAAGG CCAATCCTGTAAAAGAGTTGATGAGAGCACCTAATCGGGTTTGACCCCAC AGCCTGTGTGTATGCAGAAAGGACTGGGAAATGTAGCTTTGCAAATGAGA AGGGTAGCGATATTCCAGGGCTGCTATCCAGACACACTTACTCACTCATC TGCTTGATTCAATTTTATTTGTACAAAGGGTTTGTTGAGGCAATGGGCAG ACTAAGCCTTTAGGGATCAAGGGCTATGCAAATAAAACCTTAATGGAAGA TTAAATCAGCTGATGTCCTCCTCAGTGCTATTTCCATTTGTAGGACTGGA ACTGGCATTGGGGGAATGAATCATTTTTACTACATTTAAGCATTGATTTT AAAATACCTTCTTTACAAAAATAGTAGCCATTATAATTAAACAGGACTGG AAATACTCAGTAACAAACAACAAAAACCTTCCTTTATATAAAGAGAACAA ACATCATATTATGGTCACAGTTAAATAGCAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	368	0.0027	-4280	c.-55 others(19): Show c.-55+20053_-55+24332del	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	1/14			chr1	TogoVar
GNAL_chr18_11684264_11890685	11825628	GGCTGAGG others(4272): Show GGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAG CTGAGATTGCGCCCTTGCACTCTGGCCTGGGCGACAGATGAGACTCTGTC TCAAAAAAAAAAAAAAAAAAAAGGAAAAGGACACTTGGTGCCAGGGCTGG CTCATTGTTTTTCCCTGAAACACTTACTTTTCCATTTTGTTTTGCTATGT TAGATATATTCTATTGCTATTAGAAAATAATGGTCCTTAGAACAATGTTA AATTATTAAGAAGTTCTAGATATGTTTGCTGTTTTGATAATTAAAAATTG TAGTTGACTAGTTGTTTTATGTAAAGCTGTGGATAGCAAGAAATGAAAAA TTTTACATTTTAAATCTCTAAACTCTAAAAATTCATATACATAGAAGAGA TTCCATAGCATAAAATCTGGGAATTCATAGTATTTGGAACCAATCAGTGG AGCTGCATTGTGAATGTTGATTTCCAGGAGGGAGTGGTTGTGTTGGCCCA AGCTCCTGCTTACTAGGTTCTACTTCCACTCACCATCCCCCATGGGATGG GCCTGAAGCACCCAGCGAAGCCCAGAGAGCCAGGCTCCAAGGGGCCCATG GCAAGGGCCAGAGGAGGAGGAGGAGCGGGGAGGGGGAAGGAAGAGGAGGA GGAGGAGCGGGGAGGGGGAAGGAAGAGGAGGAGGAGGAGCGGGGAGCGGG AAGGAAGAGGAGGAGGAGGAGCGGGGAGGGGGAAGGAAGAGGAGGAGGAG GAGGAGGAGGAGACACTAAGCATGGCTGGGGAAAGAAAGAGTGCTCATAA AGAAGTGAGGGAGGTCAGTGGGGCCAGACACCCCCAGGGCTGAAGACCAC AGCAAGGAACTTGGGTTTTCTTTCAGCTACAGCAACCAGCCATCCCAGCC ATAGGCTCCAAGCATGTGGTTGTCAGGGAAAGTAGATTGCAGAAGGCAGA GACCCTGTGGGGTGCCTTGGGTTGGGCTGGGGTAGCCATGCAGGTGAGTG CTGGAAACTGAAGGGCAGAACTAGCTGGTGGACTTAATGAGGAAAGGGAT CCAGGAGGGTACAGGGTGAACCACGGTGCCATTTACTGCAAAGGGGACAT CTAGGAGACTTAGGGAAGAGATCCAGCTCTGATTTGGAGAAGTTGAGTTT GAGATGCCAAATGGAGAGCCATGTGGAGGCATCGAGCAGTCAGTCTGTTG TCAGAGCCTGGAGCTCGGAAGAGAGGCAGATGGCCCCAGTGTACCGGTCA TCAGCTACTGATGGTATGCAGAGCCTGGGAATCCAGAGCACACGAGGAGT GCCCGCAGAGAGGCAAGGGCTCTGGGCCTGAGAAAGTTCAGCTTCAGACA AGGAAGAGCCTCACAGCACATCTGGGAGAGAGGGAGTGCCCAGCAGAGGG CACAGGTCGTCCGGGCCAGATGCTGGAGAGACCCGGAAGGAGGAGGGCTG ATGGTCCTAGTAAGATTGTACTTAACCTCCTTCTTACCTTGTCCAAGGAC AGGATGTCCCATGCTCAGTCCGCAGGCATGTGGTGAGCGCGCTTGGCAAG GCAAAGTATAGTAAAGCATCGAGAATGGAGCGCACACCTGCTGCAAACAC CCTCAGAGGACCGTAGAAAGGGTTAGCCACCTCCATTATACACTAAAGAA AGTATTTACTCATGAAAATTTTTAATTAATGAAAAAAGTATTTAAAATGT CCTGGCCGGGCATGATGGCTCATGCCTGTAATCCCAGCACTTTGGTAGGC CGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAA CATGGTGAAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATG GTGCTGGACACCTGTAATCCCAGCTACTCGGAGGTTGAGGCAGGAGAATC GCTCGAACTTGGGAGGCGGAGGTGGCAGTGAGCCGAGATTGTACACCTGC ACTCCAGCCTGAGTGACAGAGCAAGGCTCGTCTCAAAAAAATGAAAATTA AAAAATTAAAAATGTCCTGTTTCCTGCCATGCACGACAAGTCCTTCAAGA TTTTCTTTAAATAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACT TTGGGAGGCCGAGATGGGCAGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTGGCCGGCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAGGAAA AAAAAAAAAAAAAAAGATTTTCCTTAAATAATGTTTGTAAATTGGCCCTG CCCTTGAGTTTACATTTGTGAATACAGTTCTGTGGTTGCTCTCATGTTAT TTGGTTGCTTTCGGTTTGGATGTGGGAGTTTGGAAAGGCTCTCAGGGGAA CTCCAATGCAGTCTGAGCAGCCTTGGGAGGCTTGCAGGTGCTGAAAAGGC CTTTTATCTTTTCCTCTTACTCTCACTCACTCTTTCTGCAATACTTCAAT CGTTAAGCAGTCATTTAAGGCACAATAGAAGCTGGGCATGGTGGCACATG CCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCC CAGGAGTTGGAGGCTGCCGTGAGCTATCATTGTGCCACACACTCCAGCCT GGGCGACAGAGTGAGACCCTGTCTCAAAAATAAAAAGACACAATAGAATT ATGTTAAACTCACGTGCTTTAGAGGTGGGAAGAATATACCAGGAAAATGC TAGCAACTGGAATTTCTAAAGCAGTTCTTAATAATATTAAAATTCATACA CCTCTGCATTTGAAGCTGTTGTGGAATATGCGTTCTATCATCCTTTTTCA GTATTTCAGTATTTATTGGACAAAGACTGGCCTTGGAGAACACCACAGTT CTGCTCAATGCCACATTAGAAATTTTTCTGTTGTAAAAAAAAAAAATGGA CAAGTTATTCCTGCATCACCGTAGTAATAGAATTAATAATTTGATTTAAA ATAGAATATGTGAAAATAAATCATGGAAAAAGAAATGGTGTGAGCTTGGC AATAGGCAGATCGGAATTCAGATTCTGGCCCCACCCCCGACCACTGTGTG AGACTTTGGGCAAATTACTTTTATGGGAAAATTAACAGGATCTATTCTCA TATGGTTGTGGGATTAAATAAGTAGATATCCAAAGTCCTCAAAATAGTGC CTGGCACTTAGTAAGCACTAGGTAAGTGTTATCTCTTGCTAGAATGTGAC TGATACAGAAACTGACACCTAGAGAGGTGCCTACGATCACAGTTACCCAG GAACAGATGAGACCACAGCCAAAATCTGCTATTTCTTTTAGATTTATTCC TTCAAATTACAGAAAGCCACAGATAAAAACTGCCTTGTGAGCGAGGCCCC AGGGCCTCAGGCCAAGACTCCCTTCTAGGCTTGTCAGGAATAAAACACCT TTAGCCAAAGCCTCTGTTTCAGCTTTCTGAACCCTGGGCCTGACAGAATT ACAGAAACTGGTTCCCCCTTGAGGCCTCACTATCCTAGGCTAATTGTAAC TTCTCCCGTTTAGCTCGTTTCACCCATTTTAATACATACAGGAATCATGT GGAGCAATAACCTTTGCATCCTAATAACTATCTTGTTTTTCCTATAGGGT CAGATTCTGGAATTGAGGGATGAGGGATTTCAAAAACAACTAACATTTCA ATAAATCTGTTAGACCAACATAGAGCTGCCAAATTCTTTTACTTTGCCAA ATAAGATGTTAGAAAAAATAAAAGCTGCTCCCATCTCCCACCACCGTCAC TTCATAAAAGAAAGGACATTTCAAAATCAGGCCAGTAACAGGACATGTCT CAGACCACAGTCTGAGTGCAGTCCTCAGACCACGAGACTCGTGTGTCTTG TTCAGCCTACTAGGTTTTGAATTCCCCAGGGAATGTGTCTCATTCATATT TAAATGCCCAGCTCCTAGGTGGGTGTTCTTGTATAAAGTCAGCGCTCAGT CAACGGGCGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTAGATCACTTGAGGTCAGGAGTTCGAGACCAACCTGACAAACAT GGTGAAACCCCGTCTCTACTAAAAATACAAAAATTTGCTGGGCATGGTGG CACACACCTGTAATTCCAGCTACTCAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0059 a0001c0001t0032g0060 a0001c0001t0032g0059 a0001c0001t0032g0060	2	246	0.0081	-4279	c.722 others(16): Show c.722+630_722+4908del	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11825628	GGCTGAGG others(4272): Show GGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAG CTGAGATTGCGCCCTTGCACTCTGGCCTGGGCGACAGATGAGACTCTGTC TCAAAAAAAAAAAAAAAAAAAAGGAAAAGGACACTTGGTGCCAGGGCTGG CTCATTGTTTTTCCCTGAAACACTTACTTTTCCATTTTGTTTTGCTATGT TAGATATATTCTATTGCTATTAGAAAATAATGGTCCTTAGAACAATGTTA AATTATTAAGAAGTTCTAGATATGTTTGCTGTTTTGATAATTAAAAATTG TAGTTGACTAGTTGTTTTATGTAAAGCTGTGGATAGCAAGAAATGAAAAA TTTTACATTTTAAATCTCTAAACTCTAAAAATTCATATACATAGAAGAGA TTCCATAGCATAAAATCTGGGAATTCATAGTATTTGGAACCAATCAGTGG AGCTGCATTGTGAATGTTGATTTCCAGGAGGGAGTGGTTGTGTTGGCCCA AGCTCCTGCTTACTAGGTTCTACTTCCACTCACCATCCCCCATGGGATGG GCCTGAAGCACCCAGCGAAGCCCAGAGAGCCAGGCTCCAAGGGGCCCATG GCAAGGGCCAGAGGAGGAGGAGGAGCGGGGAGGGGGAAGGAAGAGGAGGA GGAGGAGCGGGGAGGGGGAAGGAAGAGGAGGAGGAGGAGCGGGGAGCGGG AAGGAAGAGGAGGAGGAGGAGCGGGGAGGGGGAAGGAAGAGGAGGAGGAG GAGGAGGAGGAGACACTAAGCATGGCTGGGGAAAGAAAGAGTGCTCATAA AGAAGTGAGGGAGGTCAGTGGGGCCAGACACCCCCAGGGCTGAAGACCAC AGCAAGGAACTTGGGTTTTCTTTCAGCTACAGCAACCAGCCATCCCAGCC ATAGGCTCCAAGCATGTGGTTGTCAGGGAAAGTAGATTGCAGAAGGCAGA GACCCTGTGGGGTGCCTTGGGTTGGGCTGGGGTAGCCATGCAGGTGAGTG CTGGAAACTGAAGGGCAGAACTAGCTGGTGGACTTAATGAGGAAAGGGAT CCAGGAGGGTACAGGGTGAACCACGGTGCCATTTACTGCAAAGGGGACAT CTAGGAGACTTAGGGAAGAGATCCAGCTCTGATTTGGAGAAGTTGAGTTT GAGATGCCAAATGGAGAGCCATGTGGAGGCATCGAGCAGTCAGTCTGTTG TCAGAGCCTGGAGCTCGGAAGAGAGGCAGATGGCCCCAGTGTACCGGTCA TCAGCTACTGATGGTATGCAGAGCCTGGGAATCCAGAGCACACGAGGAGT GCCCGCAGAGAGGCAAGGGCTCTGGGCCTGAGAAAGTTCAGCTTCAGACA AGGAAGAGCCTCACAGCACATCTGGGAGAGAGGGAGTGCCCAGCAGAGGG CACAGGTCGTCCGGGCCAGATGCTGGAGAGACCCGGAAGGAGGAGGGCTG ATGGTCCTAGTAAGATTGTACTTAACCTCCTTCTTACCTTGTCCAAGGAC AGGATGTCCCATGCTCAGTCCGCAGGCATGTGGTGAGCGCGCTTGGCAAG GCAAAGTATAGTAAAGCATCGAGAATGGAGCGCACACCTGCTGCAAACAC CCTCAGAGGACCGTAGAAAGGGTTAGCCACCTCCATTATACACTAAAGAA AGTATTTACTCATGAAAATTTTTAATTAATGAAAAAAGTATTTAAAATGT CCTGGCCGGGCATGATGGCTCATGCCTGTAATCCCAGCACTTTGGTAGGC CGAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAA CATGGTGAAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATG GTGCTGGACACCTGTAATCCCAGCTACTCGGAGGTTGAGGCAGGAGAATC GCTCGAACTTGGGAGGCGGAGGTGGCAGTGAGCCGAGATTGTACACCTGC ACTCCAGCCTGAGTGACAGAGCAAGGCTCGTCTCAAAAAAATGAAAATTA AAAAATTAAAAATGTCCTGTTTCCTGCCATGCACGACAAGTCCTTCAAGA TTTTCTTTAAATAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACT TTGGGAGGCCGAGATGGGCAGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTGGCCGGCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAGGAAA AAAAAAAAAAAAAAAGATTTTCCTTAAATAATGTTTGTAAATTGGCCCTG CCCTTGAGTTTACATTTGTGAATACAGTTCTGTGGTTGCTCTCATGTTAT TTGGTTGCTTTCGGTTTGGATGTGGGAGTTTGGAAAGGCTCTCAGGGGAA CTCCAATGCAGTCTGAGCAGCCTTGGGAGGCTTGCAGGTGCTGAAAAGGC CTTTTATCTTTTCCTCTTACTCTCACTCACTCTTTCTGCAATACTTCAAT CGTTAAGCAGTCATTTAAGGCACAATAGAAGCTGGGCATGGTGGCACATG CCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCCTTGAGCC CAGGAGTTGGAGGCTGCCGTGAGCTATCATTGTGCCACACACTCCAGCCT GGGCGACAGAGTGAGACCCTGTCTCAAAAATAAAAAGACACAATAGAATT ATGTTAAACTCACGTGCTTTAGAGGTGGGAAGAATATACCAGGAAAATGC TAGCAACTGGAATTTCTAAAGCAGTTCTTAATAATATTAAAATTCATACA CCTCTGCATTTGAAGCTGTTGTGGAATATGCGTTCTATCATCCTTTTTCA GTATTTCAGTATTTATTGGACAAAGACTGGCCTTGGAGAACACCACAGTT CTGCTCAATGCCACATTAGAAATTTTTCTGTTGTAAAAAAAAAAAATGGA CAAGTTATTCCTGCATCACCGTAGTAATAGAATTAATAATTTGATTTAAA ATAGAATATGTGAAAATAAATCATGGAAAAAGAAATGGTGTGAGCTTGGC AATAGGCAGATCGGAATTCAGATTCTGGCCCCACCCCCGACCACTGTGTG AGACTTTGGGCAAATTACTTTTATGGGAAAATTAACAGGATCTATTCTCA TATGGTTGTGGGATTAAATAAGTAGATATCCAAAGTCCTCAAAATAGTGC CTGGCACTTAGTAAGCACTAGGTAAGTGTTATCTCTTGCTAGAATGTGAC TGATACAGAAACTGACACCTAGAGAGGTGCCTACGATCACAGTTACCCAG GAACAGATGAGACCACAGCCAAAATCTGCTATTTCTTTTAGATTTATTCC TTCAAATTACAGAAAGCCACAGATAAAAACTGCCTTGTGAGCGAGGCCCC AGGGCCTCAGGCCAAGACTCCCTTCTAGGCTTGTCAGGAATAAAACACCT TTAGCCAAAGCCTCTGTTTCAGCTTTCTGAACCCTGGGCCTGACAGAATT ACAGAAACTGGTTCCCCCTTGAGGCCTCACTATCCTAGGCTAATTGTAAC TTCTCCCGTTTAGCTCGTTTCACCCATTTTAATACATACAGGAATCATGT GGAGCAATAACCTTTGCATCCTAATAACTATCTTGTTTTTCCTATAGGGT CAGATTCTGGAATTGAGGGATGAGGGATTTCAAAAACAACTAACATTTCA ATAAATCTGTTAGACCAACATAGAGCTGCCAAATTCTTTTACTTTGCCAA ATAAGATGTTAGAAAAAATAAAAGCTGCTCCCATCTCCCACCACCGTCAC TTCATAAAAGAAAGGACATTTCAAAATCAGGCCAGTAACAGGACATGTCT CAGACCACAGTCTGAGTGCAGTCCTCAGACCACGAGACTCGTGTGTCTTG TTCAGCCTACTAGGTTTTGAATTCCCCAGGGAATGTGTCTCATTCATATT TAAATGCCCAGCTCCTAGGTGGGTGTTCTTGTATAAAGTCAGCGCTCAGT CAACGGGCGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTAGATCACTTGAGGTCAGGAGTTCGAGACCAACCTGACAAACAT GGTGAAACCCCGTCTCTACTAAAAATACAAAAATTTGCTGGGCATGGTGG CACACACCTGTAATTCCAGCTACTCAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0193 a0001c0001t0036g0194 a0001c0001t0036g0193 a0001c0001t0036g0194	2	282	0.0071	-4279	c.491 others(16): Show c.491+630_491+4908del	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASMT_chrX_1610059_1648081	1636913	CTGTGTGT others(4270): Show CTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAG TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA TCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG GGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGC TTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA GTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTG TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGA TGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGA GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG GTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03927.hp1 HG01081.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0079 a0002c0002t0001g0046 a0002c0002t0001g0079	2	176	0.0114	-4277	c.910 others(16): Show c.910+380_911-1587del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ADGRB3_chr6_68630282_69394506	69304218	ATTGCAGG others(4269): Show ATTGCAGGTTTTCCCCTAAAAATTATATTGAGTGAATAATTAAATCATCA TGGAAAACTCCGTTTGTTTCCTACAGCCTTAGAATTAAGACAAAAATATA ACATCCATATGACCTGAATACATTCAATAAGTTCAAGTCCCTGATTCTAG GACTTTGAAGACTTGCAGAGAAACATAAATTTAAAAGTTCTCTCCTTTCC TGTATATTTCTCAAAGTCTGCCTACTAGTAGTAAGAATATAGTAAAATTA GAATCCTAATTAAAATGTAACTACATAGCTTAGATGCTGCAATTTTCTGT CTTCTTTATGTTTTAATTTTAGTTAGCTACATTAAGCATAAGTAAGTCAT CCTTTTGCTTCTTTGACAGTTATATTTTGTCAGTCTCTGTATGTCAAAGT TATATGTCCAATTGTTTCTTCTACTGCTCTGTTTTTGCCATATTGTATGC AGTAGTTAACAGTATAGAACTTGGTGATAGATTATATTCTTGACTCCTTC TCTGACTTGTGTCTTCAGAGACATAACCTTTCTTTTCTCAGTTTATCTGT CTCTAGAGTAATGGTAGTTATTTCTATTGGCATTCTTTGTTTTCAAGGGA GGTACTAGTGTTTCTATTTTCTAAATGGTTTGCAAGCAAAGGTTTCTGGC TAATAGCATTTTCTGGTCTCCAAATCTGTGGTGCACCATTAATGAATCTG TAATTTTCAAACATTTAGGATGAAGTTTAGAGTCATATAAGAATATGGAC TAAGGAGCTCAACATGTCTGAGTGTGAATCTCAGCATGGCTCATTACATT TTACGGGACCATGAATATGTTACTCTATTTGAGCCTCACTTTCTTCCCCT ATATATAGTAATAATAACACATGGTAGTTCTTCCTAGAAGGACTATTGTG AAGGCTAGAAATAATACAGGTAACACTGTTAGCACAGTGCCTGGCAGATG GCAGCCACTTAAAACAAATAGGAATTTTATTATTGAAAATGTAATTTTCC TGAATTATACTAATCCTAAATATACTTAAGCAGATTTACTTAACACAAAG TTAATTCTTCTGATTCTGTTAATCATATGGTGTTCAAATTGTTACAGTGC CACAAAGCTGTTATTACTCACAGTGATTATTATTGTGTGACAAAATATAC TTTTTTGGCTAATAGAGATTGTTGATTTATACAGTGTGGATTATTTCTTT GTTGGAATCATGAGATAATTTTTCATTATATTAAGTTGCCACCCATCTGC TATGAAGGAGATAATCCTGACTTACTTTGAATATTTTTTCTAGGATTAAG ATTAGATTTATACCCTTCTGCATGTAAGTCCCTTCACACTTATTCTGGGA CCAATTAAGAGTAGTATATCTGAGTTCTTGGTGGGGAGTGGGGGAGAAAA AACACAGTGAAAGCAAAGAGTCAACACAGGGACCAGACCTACAGCCATGG TGACGTTTGTGGAGCTCTAGCTCAATAGGCTACCTGGACTCAGGCTCATG GAAATAATCCACACTGGGCTCTTTTTGTGACCACAGAGCCTTCTCTTACT GTTTAAGCCCTCGAATATTCTATTATCATTGATTCTAAGTGCAATCAATC TTCCATATACATATGTTATGCATTCATGGATTAACAAACTGAAGATTAAA AATACCCCTGGGAAAAATATTCTGCAATGTTCCAAAAACCAAAACTTGAA TTTACCATGCATAGAATACTAGGTTGAATCCAGGTGAATTAAGTGATGTG TAGGCATTGTATTATATATTGTAAGTAATCTAAAGATGATTTAAAGTACA TGGAAGGATGTGCATAGATTATATGCAAATACTATGCCATTTTATATAAG GGAGTTGAGCATCCCTGGATTTGGGTACCCATGAGGGTTCAGTAACCAAT CCTTCATGGGTGGGGGGAAGCAACTGTATATGTGGTGTTGGGGTGAGATG GGAGTTAGTAAGTTACTACAAATTTTCTCTTATACTGTAGAAATTTAGAA CATGTCAACAAATAACGCATCACCATCATAAAATTATCAACATAAGCCCA ATGTTGTCACGATATATTGCCATATAACATGTAACTTCTTAAAAATCAAG ACCACTAACATTTTTCTCTTGTTTTGCCTTTAATTCAAAGTCTTCAATCT CTGTCATACATAGCATAATGTGTTGCCTCTTCTCATTAATAGAAAAAATA AGAAAACTTCCTAAATCATGGATTCATTAAGTTGATAACCTATGTACTAG GCACAATAACACATAGAGAAATAAACTGGAAATAGATCTTTCTTGGGAAG CTTACATAAAGGGAGATAAGCCAGGTACATCAATAACTATAAATACTGCA ATACAAAGATAGAAAGTGCACATTTAGCCAGCAGTTTACTCATTTGCTTA GCAAGTAAGTGTTTTTATTTCTGACTACAGGTCATACTCACTACCTAATT CTGAGATTACAATGAACAGTGACCACAATAATGGCAAATGGAAAGTCTGC CTTTAGTATTTAATTCCTAATTTGTATGTGGTGGGGAGTGAGGAGTGTGG ACAAACAATTTAAAAAACTGTGATAATACAGTGTGAAATGTACTAATGGT ATTTATGGGAGAGGACAGGGCCCATTGGAACATGAAAAGGTGTATCACAG ATTTAAGAGAGCAAGCAAGATTTCTCAGTGTATTTCATCATATTTGTTCC TATTTACCTTGAGATCATAGCCTCTTATTATAGCCCCTAACACATTGCAT TGCAATTCCTGCAATGCCTGGTTTACATGCCTGCTACACCCTTACTCTCC CCTCTCTGTGTTTTGTGCCCAATACGTTATAGTAGCTTCATTTATAAAAA TAGCTTTTTTTTTTGCTTCCAACAACTTTCTTGCTTTCTCAATTATGCTT ATATTCTAGTTTCAAACTAGAGTAAGAAGTACAGTTGCATTGCATTCTCA GTAACTGCTCCTTTTCGTTGACTGTTTTATTTGACTCTAAAAATCTACCT GATGTCATTGTCTTCTATAAAGTTATAGTATTAAAGAACCAACCACATTG CAACCGACTTAAAGAATGTGTTGTAGTTAAATTTCTTATGTATTTCAGAA TCACATTTATGCCACATGCTGTATTTTAAGCAAAGATAATTATTTCTATG TTTACGTGTTCCACATTAAATATAAATCAGGTTAGAATATGAAATTTCAC AGTCTCTGGCTTTTGACTAATTTCAATATTGGTACATTTTGAGTTCTTGC AATATCTTATTTGAAATAACAAACAAGGAAAAGTTTCATTATAAGCATAG CTCCTATATTTCTTTTCTTCACCTTTCTGTGACACTTTTGGAAATTCTGG GCTTGACCAGGTCTTGTCTTGATTTACCTGTTTCTCTGTATTCCTTTCAA ATATCTCTTCTTCTTTTTATTTTTTCAGTTTTAAAAATTTGTACTACAAA AGGTAGGACTTTTTTTTTCTCCTGAGCCCTCCCATGTCTTGGGTTCAAGA TCTTTAATGAAGACACCAGAAGAATCACATGTCTAGTTATCTAGTTTACT GCAGTAGCCTAGGCTGACTGGGCATCTCTGTGGAAGAATTAGGCAAATGG CTAAAGGGTGTGACTGGCACAAATGTGACTCCATCTTTTCCACAGAGTCC CCATTCTCATATAAATGGATGAGGTGGTTCGATTCAAGTTATGTATTAAA TGTAAAACTCAAGAGTAAATTCTGGTGACAATGTTATACCTAGACAACAT GAAGCCTAGGAATCTAGACATGAATATGCCAGAAAGGCAGCAAAGAAAAA GGTGAGAATTTTGTTAGTAAGAAGTTTTAGATGTCTAAGATCTGCTCCAG CTTAAGAATTTGAGAAGATATAGACTTTTTTCAATTTAAGCAGATCCACT AAGACCATTTGGTATAAAACAAAGGAAATGAGACCTGGAATAAATCAAAC TGCGTGAGTTTGAGTCCTGGCTCTGCCTCTACAGAGTGACTTTGGGAAGG TTATCTAGTCTCACTGGACATGTTTTATTCATAGTGAAATCTAAATAATA GTAATTACACTTACCTTTCCTGTTTAGCACAAGGATCAAATGAGGTACTA GGTATTAAATACTATGTAAAATCCACCACAGTTTACAAATATCGTTTATT GCTAAGTTAAGGGAGATATGGAGGAATTGAGGAAGATATGGTTCAGAGTT CATTAAATGAAGTATAAATATTTGGATTAATTTCAGAGCAGGGAAATCAA TATAATTTATTCCAGTTGGTTCGTACT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp1 HG02970.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0024 a0002c0005t0001g0003 a0001c0002t0001g0024 a0002c0005t0001g0003	2	118	0.0169	-4276	c.281 others(21): Show c.2815-20648_2815-16373del	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCN8A_chr12_51586233_51817864	51663297	AGACTTCT others(4268): Show AGACTTCTGATTTTGGCTCCAGGCCAGATCAGAAAAAGGGGATGTAAATG AAATGGGACTATTTAAAAGAGTCTTTAAAAGATGGGATAGTAAAAGATAG TACAGCCTCCCTCTCTCAAACACACATTCAAAATTCTATCTTTAATATAA AGATGTTGTTACTATTGTGACATCAGTAGAGTAGTGTGGTGGAGATGGTG TATTTGCTCTCTTGTCTAGCTCCCTTTGTGACATTAGAGCATAGCTGCTG GGGACAGGAATAAAACTGAGTAAAGCAAACAGCCAATGAGGACAGACCCA GGTCATTGGCCCTGTTACACAGTTGTCTGGATTGATTCTTCCAGCACTGA TTCTTGCAGTAGAGTCAATTCTGTTATTCATGCAAGTAGGGAGCTCAAGT GAAAGAACTACTAATCTTCATTTGGCCAAGAGTTTCAAACTTCCTGAACA AATATTTGACTAAATCTTCAGCTACTTTCTCATGATTATCTTCTGAAACA AGGCACCAAGTAGAGAAACAAAGCCTCCTGGGTGATCCACCAGCTAAATA ATTGAATCTTGAGGACTGGCATCAGACACCGTTTTAGGGAACCCCTCATT TGACAGATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCG CCTCCTGGTTTCAAGCAATTCTCCTGCCTCACTCTCCTGCGTAGCTGGGA CTACAGGCTCAGAGCAGCTACGTAATAGAAAAAAGTGGAACCATTAGTCT GTTCTTTCACTGGGAAATCTAGAAAGTTTAATGAACAAAATGATATGATG TAAAGAACGGTAGATTGGAAGTAAGAAATCCTGATTCTACCATAATTTAC CATGTTTATTATTTACTTTTTTTTTTTTTGAGACAGAGTCTCGCACTGTT GCCCAGACAGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCGACCTCTGCT TCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGACT ACAGGCGCCCACCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGAT GGGATTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTG ATTCACCCGCCTCAGCCTTCCAAAATGCTGGGATTACAGGTGTGAGCCAT CGCACCTGGCCTTATTATTTACATTTTTATTTTTTAGTAAATGTATTGTC CAAGCTACCACAGATAATTTATGGGGAAATAAATGAAGAAAAAAACCTTC TCAAAACTAGTTTGTAATTTTCGGCAAGACACTTCATCTCTCTGGACCTA AACTATTTTTTCCAACTCAAATGCAAATTAATTTCTCATTTTCTTTTTGT TTTATAGTTTTTATTTTTTATTTTTCCTTTAACTTGTATTTTAAGTTCAG GGGTACATGTGCAGGATGTGCAGGTTTGTTACATAGGTAAATGTGGGCCA TGGTGATTTGCTGCACAGATCATCCCATCACCTAGGTATTAAGCCCGGCA TCTATTAACTATTCTTCCTGATGCTCTCCCTCCCCCCATTCCCTACCTCT GACAGGCCCCGATGTGTGTTGATCCCTCCCATGTGTCCATGTGTTCTCAT GATTCAGCTCCCACTTATAAGTAAGAATGTGTGGTGTTTGGTTTTCTGTT CCTGTGTTAGTTTGCTGAGGATAATGGCTTCCAGCACCATCCATGTCCCT GCAAAGGACATGATCTCATTTCTAATTTCTCATTTTCTTAAACCTGACAG GAGATATGAAAAAATATATAGAGCTAATAGTTGTTAGAGCCCAATTTTCC TTTGCATACTCTTTTTCCCTGGTTCCTGCTCTATAGACAGCCTCTTTCCA TTCCCAATGCCTCAGATTTCAGTGGCCTGGCTTGAGAGTGGGGACTTACC AAAGAGAGTGGGTCTCTGGACCTGATGGGTGTCATTCATTGGATAGGCCA AATTGTTCTTGATGGTGCTCCATTAGAAGACTGATTCTTCATGGTAGAAA TTCTGACTTCAGCCTTCGGCTTCATCACAAGGGTAAATTGTTCCTGGAAA GGATAACTTTAATAATTTTTTTTGGTAATCTTGAAAAAATATATACCACC ATACAGAAAAGCTCATAAAGTATAAATACATAGCATAATGATTACAAACT AACAGCATGTCAAGAAAGAACATTGCTAGCACTTTAGATATGTTCATTGT ACTTTTAAATGAAGGATATTTTACTTGATTAAAAATAATATTCTTGCTCA AGTTAACTTGCAAATCTTTACCAGCAGTGCTGATACTTCTATAGGGGTGG AAAAAGTCCACCTCCATTCTCCTAGGGTGCCAGCTGGGTCTTAGAATTAA ATTGACATAACATAGATTAACAGGAGAAAAGCATAATACATGCTTTATGT AGCACAGGAACCCTCATGAAGAAATGAAGACCGTAGGCTGGGCGCAATGG TTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACA AGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCT ATTAAAAATACAAAAATTAGCTGGGTATGGTGGCACGGGCCTGTAATCCC AGCTACTCAGGAGGCTGAGTCAGGAGAATCACTTGAACCCGGGAGGTGGA GGTTGCAGTCAGCCAAGATTGTGCTACTGCACTCCAGCCTGGGTGACAGA GTGAGAGTCTGTCTCAAAAAAGAAAAAAAGAAAGAAATGAAGACCTAAAG AAGCAGAGTCAGTTATTTATATACTGGATTGGACAAAAAAGTAGTAAATT GTGAAGAAGCAACTAAATTATGTGGGCAGGCTTAAAAGATAAGACTTATT TAACAAGGTCAGTACAGTATTCTCTTGGTCTCACCTTCTCGCCCTTGAAG ATAAGCATGTTGCCTTTCCTTCAGGTTCAGGGAGTGTCTTCCACACAGGA ATTTCATCTTCCACTCTTAAGAAACAACAAGAAGATCAGAGTGATTTTTT TGCACCCGCTGTTATACAAATGTCTTTAACTTAGTCAATATGCCAGAATA GCGTATCTTAACCCCTTCACTTCTTGCTAACTAGGCCTTGTACTAAATTA GCAAGATCTCTTCTACAAGGAAGCACACTGGGAATTAACCCACAAATCAA AAAGTCATAAGGGTAGAAATGACTTTAAGAGGACATTCCTTTCTGTTTGT TCTTCAAGGGCTGCCTTAAATAATTCTTCGCAAAATAGAATCTCTTTTCT TTGCTAAATGATACCAGTGGAATCCTTTATCTTTTCCTCATAGGTCTCAT TTTCTAACTGATGAATTGTCTTTGTGACTCTCACAAAAACTTGTTTCTTA TTTCCTTCCCTCTTTCTCCTAGTGGGTAAGAGAGAACTCGTTTTCTATTA GTGAAGTTCTGGTTTTAGCTCGGATTTCACACTCCCAAGGGACACAGGGC CCTAAAAGTTGTGCACCACGTTTTCGAGATACTGTTATTTATTCCAGCTG GTACTGGTTTGGCTATCATAAGTATCTGAGGTCCTTGTTGGGTTTCACAC TGACTTTTTCAGCTGGTCCCTGCAAACAATCTGAATCATCCTCTCTTTGA ATTGCCTCAGACTTCTCAGGGCTACTTTACATTTTCTTTGTCTCTTGGTA CTTCGTTCTAATACCTCCTTTCTTTGGCTTTCTTGTTTTTCAGCTGTTTG CTACAAATAATTGTTTAAGGAACATTTAAATTTTTAAATTCAGTTTTTAA AATAGGTAATATATTTAAGTGGTTAAAAATTCAAAGGTACTTGGTAAATA AGTTTCCTTTTTACACCTGTCTCTCATCTGTCTATTTCCTATCTCCCTGC ACAGGCAACCACTGATAGTAGTATCTTCCAGAGTTTCTTTATGTGTATGC AAGCAAAAACAAATATGTGTTTTATGGAACTTGAACTCCATTAAAAGCCT TTGTTCTTGTTTTTTTCCTGTTGTTTTCTTAAACCTATTGAAGTCTTAAT TTTGTTTTTTGTTTTTACTTACTATTATTTTTTTTTTTGGAGACAGAGTC TAACTCCAAGTTGGAGTGCAGTGATGCAATCATAGGTCACTGCAGCCTCA ACCTCCTGGGCAACCTCCATCTCTGTCTCCCAAGTAGCTAGGATCATACG CATGCGCCACCACATCTGGCTAATTTTTGTATTTCTCCCACTTTTAAAAG TTTTTCTTGTTTAGTGAAAAATTAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0006 a0001c0001t0028g0006	1	200	0.0050	-4275	c.276 others(16): Show c.276+210_276+4484del	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
TCP10L_chr21_32568721_32590523	32571358	TTTTCAGT others(4262): Show TTTTCAGTTTATGAAATAAAACCTCAGGTTAAAAGGAAAGTTATTTTCAG ATTATATAATTTTCTTAATGTCTGTTTCTTATAAGATCATATTTAAAGAT AAAGATTTAGAAATAGCAAAAGAGAAAGAATAGAAACAGGCACATATTAA CTAACTAAAAGAAAGCTGCTATACCTATTAGATTTAATAGACTTAAAGCA GAAAGCATTAAAGGTATAAAAATAGGTGTCACTGGTTAAGGATTTTTAAA AAGAAACCAATTTATAAGAAAGAGAAAAATTACAAATAAATATTAGTAAA TTCATAACCGAACTAGGATTTATTTATTTATTTTTTTTTGAGATGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGATCACTGC AACCTCCGCCTCCTGGGTTCAAGTGATTGTCCAACCTCAGCCTCCTGAGT AGCTGGGATCATAGGCGCACTCCACCGCATCCGGCTAACTTTTGTATTTT TAGTAGAGATAGAGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTG ACGTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGG AATGAGCCACTGCGCCCGGCCCAAACTGGGATATTTTTAACACAGTTCTC TCATTACCTAATGCAGTGGTCCCCAACCTTTTTGGCACTAGGGACCAGTT TCATGGAAGACAATTTTTCCACGGACTGGCATGGGTGTGGGTTGTGGGGG GGTTGGCTGATTACGTTCACTAAATTTACTGTGCACTTCATTATTATATT GTAATGAAATAATTATAAATTATACAATTCACCGCAATGTAGAACAAATA GGAGCCCTGAGGGTTTTTTTTGTTTTGTTTTGTTTTGTTGTTGTTGTTGT TTTGTTTTTGTTTTTAGAAAGCCTCACACTGTAACCCGGGCTGGAGTGCA ATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGAT TCTCCTGCCTCAGCCTCCTGAGTAGCTAAGATTACAGGTGCCATCCACCA CGCCCAACTAATTTTTTGTATTTTTTTTTTTTTAGAAGAGATAGGGTTTC CCTATGTTTACCAGGTTGGTCTCGAACTCCTCACCTTGTGATCTGCCCAC CTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTCGAC CGCCCTGAGCTTTTTTTCCTGCAACTAGAGGGTCTGATCTAGGGGTGAAG AGAGACAGTGAGAGATCATCAGGCATTAGATTCTCATGAGGAGCGCACAG CCTAGATCCCTCGCATGCGCAGTTCACAGTAGGGTTCGCACTCCTATGAG AATCAAATGCTGCCACTGGTCTGAAGGAGGCGGAGCTCAGGCCTAACGGA GCGATGGGGTGTGGCTGTAAATACAGACAAAGCTCCCCTGTCTTGCCCGC CGCTCACTTCCTGCTGTGCAGCCCAGTTCCCAAGAGACCCAGGGGTTACC TAGAGGATGGCGTTTTAGAGTCCAGGTGAGACCGGGAAAGAATGTGGTGG CTTTTAAGACAATGAGCTGACTGCACTGTGCGAGTAAGTAACACCCATTT ATCTCCGTTGCTGCTCGAGCCATGTAGCCAGGCCCACCCAGAAAAGCTGA AACACAAGCCCCAGACTGAGGTCTGACGGCGTTTACGGAGGCATCCAGAC CTGGGTGCGCTTACACACCGGCACGGAAGCCACAGGCTCACAGTTCTTGG ATAAGAACCAGGAAAACATGCATTAAGCAGGGTAAGCCCCAAATTATCTG GACAGCTGCTGCTGTGGGGAACTTGCCTCCAGGGCTCAAGTATCTGCTAA CCTGCAAGTCCCCACACCTCTGCACATTCGCATGCAAAGGCACCTACCCA CACGGGTTCCTGGTGACGTCACTCACCTGTCTGCTTGTTAAGAAACTGCA CAACTTCCAAACCATCAGGGTAGGTCGTGTGTGTCGTCTGAGCATTTGCA TAATAGTAAACCTGTAAGCACCAGAAACACCTATGTTGGGAGGCAGTTTG TGTTATCATTTTGAACCTGGATTTAATCTAGTAAAGTCCTTCCTACAGGG GGGTAAAAGCACCGTCCCAGCAGGTGGGAGTGGGCTGACCTTGTCCATGG GCATCCTCCACAGCAAGGAGGCGTGGGGAGAGGGCTTGTCACCCAAGCCC AGAAGTCAAGACACTGTGGCTCTAGGCTAGTGGGAGAGAGGACTGGACTG AGGTGGAATTCCCAGTCCTTCACCTGGGAGAAATGCACCTTGCGCTGGCA TTTTGCAGCCTCTGCCTCTAAGTCGGTGGGCACGGCTGAGCCCCGGACAG TCAGCACCAGGAATTTGGACCATGTTTTGTGTTTTATTAAAGTGGTTATC TCCCACTTATATGTTTGCTCTGGGGTCAGGGTGGCCACAGTGACAACCGC CACATTCAACACCTGATACAAATAACACACAGAGACATACAAATAACATA CAAATAACACCTGCCATGACTGTGGCACTGTTTCTAAATGCAGATCATTA GCCCTGAGGCTTCCAGGCAAACCCATTAGCTGGATCCCCAAACAAAATAA AATCCCAAGAAAAATGTTCCCACTCGTCCCCCCACTGAAGATGTTGAAAA GGGCAGAACAGAATGTGGGTTTTTCTCGGGAGAACAGAAAACAAGCGGGA CCTGTGTTCCCAGACTTCCCCGCCAGGTGCCTACTTACATCACACGTAAG TTCACAGCCCAAATTTCCTGCCGTAGAGAAAATAATTTCATTTTATTGAC ATTTTTTGTAAAATATAGCATGTTACAAGTGGACCACTAGCTAGGGCTTA GAAATATGTTTGCTATTCGTGCCTTCGAGTCTATTAATGTCAATTGAGAA CTGTAAATCAAAATGATAAAAAATGAAACTTTGACTTGGGAAACTCTTAA GCCATGAAAAATATTAATCCTGTTTGACTATGTGCTAAATGCAACCAACT TAAATCTATAAAAGAAAGTCTCTGTTTGAAAGGCTGAACCTCAGGAAATA AAGAGACATTTGGAATCATCTTAATTTTCTGTTCTTGTCAAGAAGATGCA ACCATCTCTTGACACCCACTCCGAATCTCACTTCCCCAGGATGAAAAGGT GAGCTTCTCAGGTCTCCCTCAGGGGAACCTGGCGGGCCACCCTTGCAGAA GCCACTCAGCCCACCTACCTGCAGCTCTGCAATGTTTGGGGAAGAAGCAG TGAACTCATCAGGTTGAACGTGGCTGAGAAATCCACCTTCAGAACTCTCT AAGACTGAGGAGCTTCCGTCTAAAAAGCAAATAAGTTAAATTTAAAAGGA TAGTGTATATACATTGTGGAAATATCAGTATCCTAATGCGATTGCTAAAT TCAATTTAAGCAAACGTGTGAACACATTCTTTCTTGTTCATGAGATTACT ATACACATGTCAGGTCAGTTCAACAACAAATGATCCTGTAAGGAACATTA ATTCTTTAATGAATACACTCAGTCGGTATTTCTCTTTCGAGTATTCTGAT GGATCAGGAGATTCACGGATGGAAAGGCACTGTCTTGGCCCTGAAGCTGC TCACAGTCCCGCAGCAGGCAAACACAGAAGAGAAAAGCCGAATCCCTGTG ACACTGGCTTACGGGACCTATGAAGGGCCACGGGCCATTGTGAAGGAGCA CCACAGGCTTCCAGGAGAGCCAGGAGTCAGGGGAGCTTCCCCAGGATGGC GTCACTGTCAGCTGAGATGATGCCTGGAGGTTGCGGAGATACTAGCAGGT GTGTGTGAGAGGCAAGGTCCCCCATTCTGCCCGGCACCAGCAAGTACACT GAAGTCTTGTCCGGGGGCCTGAAGGGGAGGGGACAGCAGGAACAAGGTAG CCAGGCTGGAGCAGACCTGATGGGAAGGGCTTCCCTGCCCCACAGAGAAG TGCAGAGGGGACTGTGAGGGCACGCAGAGCCTGAGGTGGTCTGAAGCAGA CAGATGGCACCAGCCTCACCTCTACGAAGCTCCCTGCAGAGGCCATGAAA CAGCCTGGGGGTGGGCAGGAAGCCCGGGGGGCAGACTCAGGAGGAAGACA GTGTCAGATTCGGCCCTGAAGGGCCACGCAGACCTCGGCCAAGGATGGGA AGGAGTCCAGGTGCCAGGCAGCCCAGGGCGAGTGGTGCCCACAGGCTTGG GCTGTGCTGTGCATAAGGGCCACACCTGAAGCTCGGCCACACCTGAGGCT CGGCCACCACATAGGCCCCG	T T	splice_region_variant splice_region_variant	LOW	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	394	0.0025	-4269	c.11 others(11): Show c.1147_*5415del	TCP10L	ENSG00000242220.9	transcript	ENST00000300258.8	protein_coding	5/5			chr21	TogoVar
IQGAP2_chr5_76398285_76713132	76416471	ATCTGAGG others(4258): Show ATCTGAGGACTTAGACTGAGGTGCCACTTACTGTGTGATATTGGGTATAA GTTCTTTGAGCTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAG GCTGGAGTGTGCAGTGGCGCGATCTTGGCTCACTGCAGTCTCCGCCTCCC GTGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCATGCCACCACGCGTGGCTAATTTTTGTATTACTAGTAGGGACAGGG TTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGC CCACCTCGGCTTCCCAAAGTCCTGGGATTACAGGTGTGAGCCAACACACC CGGCCTGAGCTCTTCTTTATTTTTGGAGACAGGGATCTTACTCTATCACC CAGGCTGGAGTGCAGTGACATCATCACAGCTCACTGCAGCCTCCAGCTCC TGGGCTCAAGTGATCCTCCTACCTCAGCCTTCTGAGTAGATGGGACCATA GGCATGCACCGCTATGCCCAGCTAATTAAAAAAAATTTTTTTTTGTAGAA ACAGTCTTGCCATGTTGCCCAGGCTGGTCTGAGCTTCTTTCTACATTTGA AAAGTGGGTTTATGTTTACCCTGTCTCAAAAGAGGGTGAGGTATGGGAGA TTGCTCTGAAAATTGTTCAAGTGTGTGTGTGTGTCTACAGTGGGGAGGGA TTTACCACTTATTTGAATAATTCTTTGGTGAAGTCTTATTAGTGTTGAAA CGGGTTTATCATTTAATCATTACCTCAAAGGCAATGCTACCTTAGCTTTG TGACATATGTTTTAAAATAAATAAATTAATTATTTTTGAGATGAAGTCTT GCTCTGTCACCCAGGCTGGAGTACAGTGGCGGGATCTCTGCTTACTGCAA TCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAG CCGAGGTTACAGGCGTCTGCTACCATGCTGAGTTTTATATTTTTAGTGGA GACAAGGTTTCACCATGTTGGCCAGGCAGGTCTCGAACTCCTTACCTCAA GTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGC CACCGCGCCTGGCCTATTTATTTATTTTTTGAGACAGGGTCTGGCTGTGT CACAGGCTGGAGTTCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCT CCTGGGCTTGGGCCATTCTCCCACTTTAGTCTTCCAAATAGCTGGGATTA CAGGTGTATGCCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGGAGAT GGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTG ATCCGCCTCCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAACCAT TGTGCCTGGCTGATATGTGCTTTTTTTTGAAACGGTGTTTGAAATGAGAT TTTCCTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCCGAGGCAGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCA ACATGGTGAACCCCTGTCTCTACTAAAAATAAAAAAATTAGCTGGGCATG GTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAT CACTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTG CATCCCAGCCTGGGTGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAGATTTTCCTTTCTCCTTCAACTTGAAAGGCAACATTTTGCATTT TGGTAGCACTATCTTTGAGACGTAACTTTTTTGAATCCTAATATATGATT TTTAGCCAGATTCTTCCTTGTCCATCTTAGCATTTCTTTTACTACGAAGT GTGAATTTTGAAAACAGAAGTTAATAGTAAGAATCTCTGAATTGAGGCTG GACCCGGTGGCTCACGCTTATAATCCCAGTACTTTGGGAGGCAGAGACGG GAGGATTGCTTGAGCCATGGAGTTTGAGGCCAGCCTGGGCAATGTCAGGA GACTCTGTTTCTACAAAAAATCTTTAAAAATTAGCTGTACTCTAGCCTGG GTCACAGAGTGAGACTCCATCTCGAAAAAAAAAAAAAAAATCTCTAAATT GAAAAGACTTTAAGAGTAGTTTCTTTGAGACCCATGCTGTAGGAAAATAT TTCATCAAGGGAAACTACTCTGCGAGGGAGGGGACATCTGTATTTTTAAC ACTGGAGGATAAAGCTTGGGAAGGCAATTCTGTCTCCTAATCTGATGACA GAGATCCTCTCTTTATAAAGCTTATGGCTTATTCTCAGGAAAAGTAGGGG GGTGAGTGTGGAAGATAGTGTGGCTGGGGTCACTTAATGCTTGAAAAGGT TTCCTAGGGCTGCTGGGTGTCAACAGCGGGCCAGCCTCCTAGGTTGATTA CACGTCCTTGACTATTATCCACGCCCTTGACTATTATCCACACCAGCATA ATATCCCATCTTGGATTAGAGATCATCTAATTCATAGTTGTCAACCTGGC TACCCACTGAAAACTCCAGGAAAGCTTTACCAAGAAAATGTGTGTTCCCT GGATATTGTCACTATCCTCTGTTTATTTGGGGATAGAATATTCTGGCATA GGTGTTTTTATTTTAAACTTTATTTATTTATTTATTTGACGGGGTCTGGC TCTGTTTTCTAGGCTGGAGTACATTGGCATGATATTGGCTCACTTCAGCC TCAAACTCCTGGGCTCAAGCTATGCTCCCAAGTAGCTAGGACTACAGGCA TGCACACCACACCTGGCTAATTAAAAAAATATTTTTTGGTTGAGACAGGG TCTCACTAGGGTTTTTTGTTTTGTTTTGTTTTGTTTTATGTAGTCTCACT CTGTTGCCCAGGCTGGAGTACAGTGGCATGGTCTCAGCTCACTGCAACCT CCGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GAATTGCAGACACATGCCACCACACCTGGCTAATTTTTTGTATTTTTAGT AGATACAGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGATCT CAAGTGATCCCCCCACCTCGGCCTCCTAAAGTGCTGAGATTACAGGTGTG AGCTACCATGCCTGTCCTCACTAGGGTATTCTTTTTCTTTTTCTTTTCTT TTCTTTTTTTTTTTTTGTGTTTTAAACACTTTCAAGCTCTCAAAACCTCA AAGAAGGATACAATGAACATCTATTCCCTTCACTTAGCTTTACCACCTGT TGACATCTTGCCACACCATTCCATCTACAGACATTGGGATGGCTCACCCC TAAATCCTTCAGCACACATCTCACATACTGAGAAAGACATTCTTCTCTCC AGCTTCATCCTCAGTGTTACCATTACTGTGTGTTCAGTTCCATTGTTCAA TATAAATTCCACACTATGATTTCCCCTGCTATGCTTTATAGCCATGTTTT AGGACCCAGGTAAGTTTCTCGCATTGCCTTTGGCTGTTATTCCTCAAGGC CTTCCCCAGCCTGGAAGAGTGGTCTCACCTCCCTCTCAATGCAATGACCC TGAATCCTCTGAGGAGTCCAGGCCTGTTTCCTCCAGGTGCATCACATCAG GGGCTACAGTGTCCACCCTCCCACTACTGGTGATGAATAGATATTTTTAA AAACCTCCCTAGGAGATTCCAATGTGCAGCCAAGGTTTGAATTCATTGAA TTAATTAAATCCACCCTACTTTATTTGTATGTGTTTTTTTTTGTGCTAAA ATACACATAAAATTATCATTCTTACCATTTTTCAGTGGACAGTTTTGTGG TATTAAGTACATTCACATTGTTGTATAACCATCATCACGATCTATCTTTG GAACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACACTGTCACCCAG GCTGGAGTGCACTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCCGG GTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCCTGCCACCACGCCCGGCTAATTTTTTGGATTTTTAGTATAGATGGGGT TTCACTATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTTGTGATCCGCC CACCTTGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGTGCCC AGCCTCTGGAACTTTTTTATCTTCCCAAACTGAAACTCCATACACATTAA ATAATAACTCCCATTC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0002 a0020c0034t0002	a0020c0034t0002g0186 a0020c0034t0002g0186	1	220	0.0045	-4265	c.46+ others(17): Show c.46+12884_46+17148del	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLEC17A_chr19_14578084_14617035	14585489	TGACTCAG others(4256): Show TGACTCAGAGCTGGTCCATGTGATAAATAGAATACTGTATAGTGGAGACC ATCCTTTGTGACTTGTGAGGCTAGATCATAGGAGCATGGTGGCTTCTATC TTTGCCTCTGCCATGTTGTGAAGATGCCCAGTCATCCCTTTGGAGAGGCT CACATGGCAAGGAACTGAGGCCTCCCACCAACAGCCATGTGAGTGCATCA TCTTGGAAGCAGATCCTCTAGCCCCAGTCAAGCCTGCAGATGACTTGCAG TCCCAGGCAACATCTTGACTACAATCACGCAAGAGATCTCAAGCTAGAAC TACCCAGCTAAGCTGCTCTCAGATTCCTGAACCACAGAAACTGTGAGATA ATAAATGCTTATGGTTGTTTTAAGTCACTGCGTTTTGGGGTAATTGGTTG TGCAGCCATAGATAACTGACCCAGTGCCCTGGTACTTCACCATGGAATGT GGGGGAATACTTAACACCTATCCCCTTAACATCTTGTTACAAATGTTACC ACTTCCAGGAGGTACTTCCTGATGACCTCTCTACATTAGCTTTTATCCTA TCCCATTGCTCTGTTTTATTAGGTTTAGAGCAGTAATACTTAGTCTATAT AAAAACATATTTTAATGTTTCTTAATTTCTTTACTTTTTTTTTTTTTTTT TCTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCCGGAGTGCAATGGTGC AATCTTGGCTGACAGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG ACTCAGCCTCCCTGGCAGCGGGATTACAGGCATGTGCCACTGTGCCCGGC TAATTTTGTATTTTTAGAAAAGATGGGGTTTCTCCATGTTGGTCAGGCTG GTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGT GCTGAGATTACAGGCACGAGCCACCACGCCCAGCCTCTTTTCTACTTTTT TAAGAGTGGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGTAGTGCAAT CATGGCTCACTGCTGTGTCAACCTCCTGAGCTCAAGCAATCCTCCCACCT CAGCCTCCTGATAGCTGGGACTACTGGTGTGCACCACCATGCCTGGATGG TTTTTTCTAAATTTTTTTTACAGAGATAGGGTCTTGCTATGTTGCCCAGG CTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCCTCCCAA AGTGCTGGGATTATAGGCATGAGCCATTGCGCCCAGCCTATTTCTATGTC TCTTTACTGGTTTATTGTGTCTCTGGTCTAGATTGAAGGAAGAAGTTTAT CCATCTCTTCCACCCAGAACTTGGTGCTCTGTAGGGGAGCTCAACTGGGA GCGGGGAGGTGGGTGGCTGTTGTCATTGTTTCTTCTTTTTCTTTCTTTCT TTCTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACTCAGGCTGG AGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGAGTTCA AGTGATTCACCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCAGGCA CCACCACGCCCGGCTAGTTTTTGTATTTTTGGTAGAGACGGGGTTTCACC ACGTTGGTTGCCCAGGCTGATCTCGAACTCCCAAACTCAGGCGACCTGCC AGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACCCCC GGCCCATTGTTTCTTCTATGTGTGAGTCCAAACTCCAGAGAAAGATGTGT GTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTGTGTGAGGTCTGGGGGCT TCCCCCCAAGATGGATTTGCCTGTACTTGACTTTGAAAGGAAAGGGAAAC AGACAGATGCCTTAGACATCTGAGTAGGAGAGACAAGACCTGGCTACCCC TTGTCATGTTCCTGGTGTTAGCGGTAGCCATGCACAACCTGTATTCTATC TCTGGGTGTCCAGACCCACCAGGTAAGGCCCTGGCCAGGCTGGGGCTGGG GCCCAGGTGTGGTCAAGATCCAGGGTACAGAATCCCCATCATGGGGCAGC TGAGGCAGAGACCAGGGCTTGAGGGATGGAGGGAGGAGGGAATGGCTGGG CTCTGACTTGCCTTTCCCCTGGAAGGGACCATGGAGGAGGAGGAGGAGGA TGATGACTATGAGAACTCAACACCTCCCTACAAGGACCTTCCTCCCAAGC CAGGTAAGAGGACTTTTTGGAGTGTGACCTGGGGGAATACAGGGAACGGG GTCTCCAGTGGGCATTGGTTGGGCATTGTAGACACACAGTCAGTCTCCTC TCTACACAGCCCATGCCGGGCACTGTGGAACCCACACCCTGCCCAGGAGG ACCTGTCAGTCTGATGGCAGAGGCAGGATTGGGCACAGTCTTGGTGAGCA GGGTGAGAGAGGAGGGGTCAGGAGATTGGCAAAATCCTTGGGGGACTGAG GGCTCAAATAGAGGAAGGGACTTTGGGGTGAGACTTGAGGGATGAGTAGA CATTTCTTAAGAAGAGAAGTCCAGGAGAGAACTGTTAGGTGCAAAGTCCC TGAGTTACAAAAGCTGGTGCTTGAGAAACTGGGAGTGGACTGTGGGCTCC CAATCTCCTCACCTTTCTACCCAAAGCCCAGGTTTTATTTAGACTTGGAT CACAAACCCAAGGCATGGTACAGGGTCCAACAGGAGACTGATAAGTGGTT GTTAAAGTGGAGGTTTGGGCCAGCTGCAGTGGTGTGCATCTGTAGTCTTG ATACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGGACAGGAGTTTGAG ACCAGCCGGGGCAACATAGCAAGACCCCATCTCTGCCAAAAAAAAAAAAA AAACAAGTAGAGGTTTGGACCGTTTGTGGTGGCACATGTCTGTAGTCCCA GCTACTTGGGAGGCTGAGTCAGGAGGATCGCTTGAGCCCAGGAGTTCTGG GCTATTGTGAAGTATGTGATTGGGCATCTGCACTAAGTTTGGCATCAATA TGGTGATGTTTTGGGAGCAGGGACCACCAGGTTGCCTAAGGTGTCTGAGG AGGGGTTTCCAGGTTGGAAACAGAGCCACTCGACACCCCCGAGCTGATCA GTAGTGCGACTGCTCCTGTGAGTAGCCGCTGCACTCCAGCTTGGGCAGCA TAGCGCGACCCCACTTCTAAAAAAATAGAGAAAATGAAACCGGAGGTTTT TGAGGTATTCCTGAGTTTACTGCCACCAGGGACCCTGAGGCCATGAGAGA TCCTGGGGGCCCAAAACAGAAAATCCCTGAGATATGCTGATGGCCTGGTC CTGGTGACCTTAGACAGGGGCCATTCTATGAGGGCTGAGGCTGTATATCC CCCATCTCTGAGTCCAGAGTGGGGCCACCTGGGAGGTCCAGAAATATGGT GGGACTTGCCTGAGGTAGGAGGTGACCTGTGCTGTGTTGTTTCACTGCCC CATTTCCAATTTATGGTCCTAATGTGACCCTCAAGCCCTGGGTCTACATA TATGACCAACCAATCCCATTCCCTTCTTCAGGGCCACGTCTGCTCCAAAA GCACAGTCCTGTCCCCACATCCACATGCAGCCCAGCATCCACTCTCCAAT CCAACTTCATCACCCTCTCTACTATAGCCCAGCCTCGACTCCTTCCCCCT TCCCAAACCTGGCAAGGACTCTGTTCTTCATCCTAACCACATCATGACCT TACCCACATCCATCCCTGTCCCCAACCCATTTTCCATCCCATCCCACCCC ATCCCAACACCAATTCTAATCCAAACCTCACCTCATCTTCATCCCCATCC TGAAACGCAACTGTTTTTGTTTTTTAAAATCCCCTCCATCCCCTTCCATC CCTTCCCCTTTCAATCAAACCCTCAAAGAGACACACAGAGAAGAGAACTG TGAATTGTCTGCTCATTAGTTTTTATGAGAGGAAACCAGAGAATTTAAAA AAAATATTTTTGAGACAGGGTCTTGCTTGTCACCCAGGCTGCCCTGAAGT GGTGCAATCATAGCTCACTGCAGCCTTGAGCTCTTGGGTCCAAGCAATCC TCCTACTACACCCTCCCGAGTAGCTGGGGTTACAGGCATGAGTCACTGTC TGTAAAGCCTCACATGTGAAGCTCAGGGTCTACATATATGACTCATATGA CTCTCAGGGCCTGTAAGTTCTGCAGAGATGACTGTGGTAGTCAGCCTTCA AGATGGGTTCCCTGTGACCTTTACGTTCTCATATTCGTGCCCTTGTGTAG TCTCTTCCCACAAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19063.hp1 NA19063.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0003 a0009c0008t0003	a0009c0008t0003g0129 a0009c0008t0003g0129	1	362	0.0028	-4263	c.122 others(17): Show c.122-1613_200-2018del	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC17A_chr19_14578084_14617035	14585083	TCCTTTCA others(4254): Show TCCTTTCAATCAAACCCTCAAAGAGACACACAGAGAAGAGAACTGTGAAT TGTCTGCTCATTAGTTTTTATGAGAGGAAACCAGAGAATTTAAAAAAAAT ATTTTTGAGACAGGGTCTTGCTTGTCACCCAGGCTGCCCTGAAGTGGTGC AATCATAGCTCACTGCAGCCTTGAGCTCCTGGGTCCAAGCAATCCTCCTA CTACACCCTCCCGAGTAGCTGGGGTTACAGGCATGAGTCACTGTCTGTAA AGCCTCATGTGAAGCTCAGGGTCTACATATATGACTCATATGACTCTCAG GGCCTGTAAGTTCTGCAGAGATGACTGTGGTAGTCAGCCTTCAAGATGGG TTCCCTGTGACCCTTACGTTCTCATATTCGTGCCCTTGTGTAGTCTCTTC CCACAATGACTCAGAGCTGGTCCATGTGATAAATAGAATACTGTATAGTG GAGACCATCCTTTGTGACTTGTGAGGCTAGATCATAGGAGCATGGTGGCT TCTATCTTTGCCTCTGCCATGTTGTGAAGATGCCCAGTCATCCCTTTGGA GAGGCTCACATGGCAAGGAACTGAGGCCTCCCACCAACAGCCATGTGAGT GCATCATCTTGGAAGCAGATCCTCTAGCCCCAGTCAAGCCTGCAGATGAC TTGCAGTCCCAGGCAACATCTTGACTACAATCACGCAAGAGATCTCAAGC TAGAACTACCCAGCTAAGCTGCTCTCAGATTCCTGAACCACAGAAACTGT GAGATAATAAATGCTTATGGTTGTTTTAAGTCACTGCGTTTTGGGGTAAT TGGTTGTGCAGCCATAGATAACTGACCCAGTGCCCTGGTACTTCACCATG GAATGTGGGGGAATACTTAACACCTATCCCCTTAACATCTTGTTACAAAT GTTACCACTTCCAGGAGGTACTTCCTGATGACCTCTCTACATTAGCTTTT ATCCTATCCCATTGCTCTGTTTTATTAGGTTTAGAGCAGTAATACTTAGT CTATATAAAAACATATTTTAATGTTTCTTAATTTCTTTACTTTTTTTTTT TTTTTTTCTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCCGGAGTGCAA TGGTGCAATCTTGGCTGACAGCAACCTCTGCCTCCCGGGTTCAAGTGATT CTCCTGACTCAGCCTCCCTGGCAGCGGGATTACAGGCATGTGCCACTGTG CCCGGCTAATTTTGTATTTTTAGAAAAGATGGGGTTTCTCCATGTTGGTC AGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCC CAAAGTGCTGAGATTACAGGCACGAGCCACCACGCCCAGCCTCTTTTCTA CTTTTTTAAGAGTGGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGTAG TGCAATCATGGCTCACTGCTGTGTCAACCTCCTGAGCTCAAGCAATCCTC CCACCTCAGCCTCCTGATAGCTGGGACTACTGGTGTGCACCACCATGCCT GGATGGTTTTTTCTAAATTTTTTTTACAGAGATAGGGTCTTGCTATGTTG CCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCC TCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGCGCCCAGCCTATTTC TATGTCTCTTTACTGGTTTATTGTGTCTCTGGTCTAGATTGAAGGAAGAA GTTTATCCATCTCTTCCACCCAGAACTTGGTGCTCTGTAGGGGAGCTCAA CTGGGAGCGGGGAGGTGGGTGGCTGTTGTCATTGTTTCTTCTTTTTCTTT CTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACTCA GGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTG AGTTCAAGTGATTCACCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGG CAGGCACCACCACGCCCGGCTAGTTTTTGTATTTTTGGTAGAGACGGGGT TTCACCACGTTGGTTGCCCAGGCTGATCTCGAACTCCCAAACTCAGGCGA CCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACC ACCCCCGGCCCATTGTTTCTTCTATGTGTGAGTCCAAACTCCAGAGAAAG ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTGTGTGAGGTCTG GGGGCTTCCCCCCAAGATGGATTTGCCTGTACTTGACTTTGAAAGGAAAG GGAAACAGACAGATGCCTTAGACATCTGAGTAGGAGAGACAAGACCTGGC TACCCCTTGTCATGTTCCTGGTGTTAGCGGTAGCCATGCACAACCTGTAT TCTATCTCTGGGTGTCCAGACCCACCAGGTAAGGCCCTGGCCAGGCTGGG GCTGGGGCCCAGGTGTGGTCAAGATCCAGGGTACAGAATCCCCATCATGG GGCAGCTGAGGCAGAGACCAGGGCTTGAGGGATGGAGGGAGGAGGGAATG GCTGGGCTCTGACTTGCCTTTCCCCTGGAAGGGACCATGGAGGAGGAGGA GGAGGATGATGACTATGAGAACTCAACACCTCCCTACAAGGACCTTCCTC CCAAGCCAGGTAAGAGGACTTTTTGGAGTGTGACCTGGGGGAATACAGGG AACGGGGTCTCCAGTGGGCATTGGTTGGGCATTGTAGACACACAGTCAGT CTCCTCTCTACACAGCCCATGCCGGGCACTGTGGAACCCACACCCTGCCC AGGAGGACCTGTCAGTCTGATGGCAGAGGCAGGATTGGGCACAGTCTTGG TGAGCAGGGTGAGAGAGGAGGGGTCAGGAGATTGGCAAAATCCTTGGGGG ACTGAGGGCTCAAATAGAGGAAGGGACTTTGGGGTGAGACTTGAGGGATG AGTAGACATTTCTTAAGAAGAGAAGTCCAGGAGAGAACTGTTAGGTGCAA AGTCCCTGAGTTACAAAAGCTGGTGCTTGAGAAACTGGGAGTGGACTGTG GGCTCCCAATCTCCTCACCTTTCTACCCAAAGCCCAGGTTTTATTTAGAC TTGGATCACAAACCCAAGGCATGGTACAGGGTCCAACAGGAGACTGATAA GTGGTTGTTAAAGTGGAGGTTTGGGCCAGCTGCAGTGGTGTGCATCTGTA GTCTTGATACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGGACAGGAG TTTGAGACCAGCCGGGGCAACATAGCAAGACCCCATCTCTGCCAAAAAAA AAAAAAAAACAAGTAGAGGTTTGGACCGTTTGTGGTGGCACATGTCTGTA GTCCCAGCTACTTGGGAGGCTGAGTCAGGAGGATCGCTTGAGCCCAGGAG TTCTGGGCTATTGTGAAGTATGTGATTGGGCATCTGCACTAAGTTTGGCA TCAATATGGTGATGTTTTGGGAGCAGGGACCACCAGGTTGCCTAAGGTGT CTGAGGAGGGGTTTCCAGGTTGGAAACAGAGCCACTCGACACCCCCGAGC TGATCAGTAGTGCGACTGCTCCTGTGAGTAGCCGCTGCACTCCAGCTTGG GCAGCATAGCGCGACCCCACTTCTAAAAAAATAGAGAAAATGAAACCGGA GGTTTTTGAGGTATTCCTGAGTTTACTGCCACCAGGGACCCTGAGGCCAT GAGAGATCCTGGGGGCCCAAAACAGAAAATCCCTGAGATATGCTGATGGC CTGGTCCTGGTGACCTTAGACAGGGGCCATTCTATGAGGGCTGAGGCTGT ATATCCCCCATCTCTGAGTCCAGAGTGGGGCCACCTGGGAGGTCCAGAAA TATGGTGGGACTTGCCTGAGGTAGGAGGTGACCTGTGCTGTGTTGTTTCA CTGCCCCATTTCCAATTTATGGTCCTAATGTGACCCTCAAGCCCTGGGTC TACATATATGACCAACCAATCCCATTCCCTTCTTCAGGGCCACGTCTGCT CCAAAAGCACAGTCCTGTCCCCACATCCACATGCAGCCCAGCATCCACTC TCCAATCCAACTTCATCACCCTCTCTACTATAGCCCAGCCTCGACTCCTT CCCCCTTCCCAAACCTGGCAAGGACTCTGTTCTTCATCCTAACCACATCA TGACCTTACCCACATCCATCCCTGTCCCCAACCCATTTTCCATCCCATCC CACCCCATCCCAACACCAATTCTAATCCAAACCTCACCTCATCTTCATCC CCATCCTGAAACGCAACTGTTTTTGTTTTTTAAAATCCCCTCCATCCCCT TCCATCCCTTCC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0094 a0005c0004t0002g0094	1	359	0.0028	-4261	c.121 others(17): Show c.121+1827_199+1830del	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
GOLGA6L22_chr15_22453903_22474226	22463592	GGTGAGCT others(4254): Show GGTGAGCTGAGATTGTGCCATTGCACTCCAGTGAGGGCAACAAGAATGAA ACTCTGCCAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAACAAATGAGA CCATGGGCTTGGAAATGCCTTGAGAACACGTCAGGTGTGATTGAGAGTGA GGAAGTGTTACTGTGGAGTAGTCACTGTAGCAGTTGTTCCTGGTCGTCCA GCTACTGCTGTGCCTGCTCTATCCTGACTTAACCTTTCTCTATTTGCAGT ACATTGAGGAGTTAACAAAGGAGAGGGACGCCCTGAGTCTGGAACTGTAC AGGAACACGTAGGATGGGGGAAGGTGGAATGGGAGGTCTGGGGGCCCTTA GCATGGGTGGTGTGCTGGGAGGTGGGGGGTCCAGGTGAGTGTGCGGAGAG GCTCATACATGTTTTCATGTGTGCACACGGAAGCTCTAGTGCTGGCTGTG CCACTGACTCATGGGGTAGCCTCAGGCAACTCATGTCTTCTCTCTGGCCT GCCACCTGGGACTTTTAATTCCTGGGGTCCCTTCCAGCGCCACGGTTCTG TGGTTGTGGGGCGAGGGTAGGGGGTCAATCACCAAAGTGGTCTTTTATGT TCTTCATTCATTCCTTTCTCTACTGCCTCTGGCCATAGCATAACTGATGA GGAGCTGAAGGAGAAAAATGCCAAACTACAAGAAAAACTTCAACTTGTAG AATCTGAAAAGTCTGAGATCCAGCTCAACGTAAAGGAGCTAAAAAGGAAA CTGGAGAGGGCCAAGCTCCTGCTGCCACAGGTGAGCAGCTGCAGCCCCGG GGGTTGTGGGAGACCCATCCAGCTGGGACCATGGTCTAGGGATCATGCAG GGTATGGGGAGGCTCCAGCCAAGAGCTGGAAAATTTGGGTCCTTGTTCTG GTCCCGCCATAGAATCCTCTAGAGTGTGCTAAAAATGTACAAATTGGGGC CCTGCCTGGGGAATCAGAATCTCAAGAGTTAGGGCTTAAAAATATTTTTT TAAAGGATCATGGATGAAAACCATTATTTTATAGATTACATTTATTTATT TATTTATTTATTTATTTATTTATTTGAGAAGTAGTCTCACTCTGTCACCC AGGCCAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCAACCCCG GCTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG TGCCCACCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CAGCCTATAGATTACATTTATGTGGCTAGCTCATGATTCTGCTTCCTTCT GAGGTTCAAAAAAACACTTTCACTATTCCAGCAGCAGCTGCAGGCGGAGG CTGACCACCTGGGTAAGGAGCTGCAGAGTGTGTCAGCAAAGCTCCAAGCC CAGGTGGAAGAGAACGAGTTGTGGAACCGCCTGAACCAGCAACAGGAGGA GAAGATGTGGAGGCAGGAGGAGAAGATACAGGAGTGGGAGGAGAAGATAC AGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATACGGGAGCAG GAGGAGAAGATGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGAGAA GATGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATACGGG AGCTGGAAGAGAAGATGCACGAGCAGGAGAAGATACGGGAGCAGGAAGAG AAGAGGCAGGAGGAGGAGAAGATACGCGAGCAGGAGAAGAGGCAGGAGCA GGAGGCGAAGATGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAAGAGA AGATACGGGAGCAGGAGAAAAAGATGTGGAGGCAGGAGGAGAAGATTCAC GAGCAGGAGAAGATACGGGAGGAGGAGAAGAGGCAGGAGCAGGAGGAGAT GTGGAGGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGATATGGAGGCAAA AGGAGAAGATGCACGAGCAGGAGGAGAAGATACGGAAGCAGGAGGAGAAG GTGTGGAGGCAGGAGGAGAAGATGCACGACCAGGAGGAGAAGATACGGGA GCAGGAGGAGAAGGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGA AGAAACGGGAGCAGGAGGAGAAGATGTGGAGGCAGGAGGAGAAGATACGG GAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGATGTGGAGGGAGGAAGA GAAGATGCATGAGCAGGAGAAGATATGGGAGGAGGAGAAGAGGCAGGAGC AGGAGGATAAGATGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGGAG AAGGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGGAAAAGAGGCA GGAGCAGGAGGAGAAGATGTGGAAGCAGGAGGAGAAGATAAGGGAGCAGG AGGAGAAGATACGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAG ATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGA GCAGGAAGAGAAGATGCAAGAACAGGAGAAGATGCGGAGGCAGGAGGAGA AGATAAGGGAGCAGGAGGAGAAGATACGGGAGCAGAAGGAGAAGATACGA GAGCAGGAGGAGAAGATATGGGAGCAGGAGGAGAAGATACGAGAGCAGGA GGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGAGGAGAAGA TTTGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGG CAGGAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGA GAAGATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGG GGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCAG GAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGAA GATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGTGGG AGCAGGAGGAGAAGATGTGTGAGCAGGAAGAGAAGATGCAAGAACAGGAG GAGAAGATGCGGAGGCAGGAGGAGAAGATGTGGGAGCAGGAAGTGAGGCT GCGGCAGCAGGAGGAGAAGATGCAGGAACACTAGGTGAGGCTGCAGGAGC TGGAGGAGAGGCTGGGGAAGCTGGGGCAGAAGGCCGAGCTCTTGGGGGGA GCAGGCGGAGGTGTGTGCAAACCCTGGAGATCATACAGAACGACCTCACC ACAACTTAGCAGATGGTGGTTGGCTCCCTCTGCTTTTCCACCAGTCTGTG GCCTACAGTTTAAATGGTGGGAAGAAGGGTGTGAGATTTGAGGCTGGGGA GGGAGGCATGGGCCTCTAGGCAAGGGAGGCAGTCATTTAGGCCTGGAGGA AGGGGCCAGGGCCAGGGGCCTGGGTAGGCGACAGAGCCCCGCAGTGCCCT CACTACCCTGTTTATGGGCCCAGAATCTGGAAGCCAGCCACTACCTACCC TGACGCCTATCCTGCAGGTGGAGCTGAAGAGCCAAGAGGCTGAGTCTGCA GCAGCAGCGAGACCATTACCTGGGTCACCTGCAGCAGTACGTGGCCGCCT ATCAGCAGCTGGCCTCTGAGAAGGAGGCACTGCCCAGCTGCAGCAGCAGG AAGCTCAGGGCGAAGCGGTGGCCGAGATGGCCCACCAATAGTTGCAGGAG ACCCGGTTGAGGGAGTTGATGAGGGCGGGGCCCCAAGGGGGATGATCTGG CAACCTCCGTGCCTTCTCACTCTCTTTCCTGGCCCCTTAGGAGCACCTGG AAGCTGCCATCTAATGAGCACATGACAAGAAGGCAAAGACAATAAACATG TAAAAGCCGGCAGCAAGGCCTGGAGAAGAGTAAGCCGCCATGTGACTGTT TAGAATATAGTCTGAGCACAAACCTGAAAAAAAAATTTTATTTATTTTAA ATTGTGGCAAAATACTGGCCAGGCATGGTAGCTCACGCCTGTAATCCTAG CAATTTGGGAGGCCGAGGTAAATGGATGACCTGAGGTCAAGAGTTCAAGA CCAGCCTGGCCAATACAAAAATTAGCCGGGCATGGTGGCGCATGCCTGTA ATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GCAGAGGTTGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG03669.hp2 HG03669.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0005 a0009c0011t0005	a0009c0011t0005g0013 a0009c0011t0005g0013	1	224	0.0045	-4261	c.562 others(12): Show c.562-236_*384del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
TTN_chr2_178520989_178812423	178656457	TACTACCA others(4254): Show TACTACCATCAGAATGAACAGGCAACCCACAGAATGGGAGAAAATTTTTG CAATCTACTCATCTGACGAAGGGCTAATATCCAGAATCTACAATGAACTC AAACAAACGTGTAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGAT ACAAACAGACACTTCTCAAAAAAAGACATTTATGCAGCCAAAATACACAA GAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCA CAATGAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCA GGAAACGACAGGCGCTGGAGAGGATGTGGAGCAATAGGAACACTTTTACA ATGTTGCTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGC GATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCA TTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACAC GTGCACACGTATGTTTATTGCGGCACTATTCATATTAGCAAAGACTTGGA ACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTTCCAC ATATACTCCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTC CTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTTGGCAAACTAT CACAAGGATAAAAAACCAAACATTGCATGTTCTCATTCATAGGTGGGAAT TGAACAATGAGAACACATGGATACAGGAAGGGGGACACCACACACCGGAG TGTGTTGTGAGGTGGGGGGATGGGGGAGGGATAGCATTAGGAGACATACC TAATGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTA TACATACGTAACAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAG TATAATAAAAATATATATATATATAAAAAGAAAAATATTTTCCAGAGCAC AAGAGATAGATCATCTGAAGCCTAAAATCAGTGACAAATACCTTTAACAG GTGGGACTTCAGGCTTTTTAGGAGGAGTCGAGGGCACTTTCTTTTCAAGG ACAACTTCTTTGGGAGCCTCTGGCACTTAAAAGATATTAGTAAAGTTACA TGTGGAGCTATGGAGACTACTAGCAAAATATACAGCAGAGGAATTGGATC TTCTGAAGCTTAAGGTCAAATGACAAGTACCTGTAACAGGTGGAACTTCT GGCTTTTTAGGAAGCACCAGTGTTTTCTTTTCTGGCACAATTTCTTGTGG GACTTCAGGCACTTGAAAGATATTAGTAGTTTTTCACTTAGGTTAATGAG ACAAATGGAGTAAAATATTTCTAAGATCAGAAGAGATATTTCTTCTGCAG AAAAAGGACAGGGGTAAAAAATACCTGTGGCAGGTGGGGCTTCTGGTTTT GTGGGAGGAGCCTTAGGAACTTTCTTTTCTGGGACAACTTCTTGAGCTTC AGGCACTTGAAAGATATTAGTAGTTTTAGACTTAAGTTAATGAAGAGAAA TGGGCTAAAATTGTTTACAGTAGGAGAGGAGATATCTCTTCTGCAGAATG AAGTCAGGGCTAAAGTGTACCTGGGACAATCGGAGCTTCTGGTTTTTTGG GTGGAGCCACGGGAATTTCTTTTTCTGCGGCTTCTTGAGGAACTTCTGGC ACTTGAAAGATATTAGTAGTTTTATACTTAGGTTAATGAAGAGGAATGGA CTAAAATTGTTTTCAGGAATGGAAGAGAGATTTCTTCTGCAGGATAAGGT TGAGCTGACATGTACCTGTAACTGCGGGGGCTTCTGGTTTTTTGATTGGT GCCTTGGGAATTTTCTTTTCTGGGACAACTTCTTGAGCAGCTTCAGGCAC TTGAAAGATATTAGTATTTTTATAATTTATGAATGGTGAAGGTATATATT ACAGTGATTGTGAGGGGTACAGACGATAAGTTTTTCTTAGCAGAGGAGAG GGAATAAATACCTTTTGCACGTGGGGCTTCCGGTTTTTTGGGCACAGCCA CAGATGCTTTCTTTTCAAGTACAACTTCTTTAGGAGCTTCAGGAACTTTG AAGATATTAGTATCTTTTAGTTAGAAGCTATAAAGGGGGAATATCGACTC CACATTTACCCAAGCAAATACAACTTGTGAGATCGGCGGACACTTCTATA CAGTCTTTCCCCAGGGCCCCCCGACTGACAATGTGTAATGATACCTACCT TTAGGAGGTGGAGCTTCTGGCTTTTTGGCAGGAGGCACCGGTACTTTCTT TTCTGGGACCACTTCCTTCGGTGGCAGCACTTCAGGCACTTCAAAGATAT TTGTAATTTGTGTTTAGAAAAGGTGAAAACGATGGATGCCTTTTGCATAT AAACACCCACCAAGATATTTTGGATAGTGATTGACATTTGTTTTCTTTAG AATTATATCATCTTTATGTAGTAGGATTTTTAACATGTAATTTCCTAGTT AAAATAACAGTTATTTTTCTCCTATAGTTTGTATAGCTTTGGCATTACCT TCAGGGGGAGGACTTTCCGGTTTGGGAGGAATAGCTTCAGGCACCTTCTT TTCTGGGACAGCTGCCTTTGGCACCTCTGGGACTTTAAAGATATTAGTAT TTTCATTATTAGACAAAGTAAAGACAAACAAACAATATCAAACACAGCAA CAAGAGGGTGTCTACCTTTTGTGGGTGGCACTTCAGGCTTTTTAGGAGGA GGCACTGGCACTTTCTTTTCAGGAACAACTTCTTTGGGAGCCTCAGGCAC TTGAAAGATATTAGTGAAATTACATTTAGGCATTATGAAGACCACTAGAA AAATATTTTCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGG GCTTCATCCCTGGGATGGAAGGCTGATTCAACATACAAAAATCAATAAAC GTAATCCATCATATAAACAGAACCAACGACAAAAACCACATGATTATCTC AATAGATGCAGAAAGGGCCTTTGACAAAATTCAACAGCCCTTCATGCTAA AGACTCTCAATAAATTAGGTATTGATGGGACGTATCTCAAAATAATAAGA GCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACT GGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCAC CACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAG GAGAAAGAAATAAAGGGTATTCAATAAGGAAAAGAGGAAGTCAAATTGTC CCTGTTTGCAGATGGCATGATTGTATATCTAGAAAACCCCATCGTCTCAG CCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATAC AAAATCAATGTGCAAAGATCACAAGCATTCTTATGCACCAATAACAGACA AACAGAGAGCCAAATCGTGAGTGACCTCCCATTCACAGTTGCTTCAAAGA GAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTC AAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAATGG AAGAACATTCCATGCTCATGGATAGGAAGAACTAATACCGTGAAAATGGC CATACTGCCCAAGGTAATTTATAGATTCAATGCCATCTCCGTCAAGCTAT CAATGACTCTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGG AACCAAAAAAGAGCCCACATTGCCAAGTCAATCCTAAGCCAAAAGAACAA AGCTGGAGGCGTCACGCTACTGTATTACAAGGCTACAGTAACCAAAACAG CATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAACAGAG CCCTCAGAATAATACCACACATCTGCAACCATCTGATCTTTGACAAACCT GACAAAAACAAGAAATGGGGAAAGGGTTCCCTATTTAGCAAATGGTGCTG GGAAAACTGGCTAGCCATATGTAGAAAGCTGAAATTGGATCCCTTCCTTA CACCTTACACAAAAATTAATTCAAGATGGAGTAAAGACTTAAATGTTAGA CCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGA CATAGGCATGGGCAAGGACTTCATGTCTAAAATACCAAAAGCAATGGTAA CAAAAGCCAAAATTGACAGATAGGATCGAATTAAACTAAAGAGCTTCTGC ACAGCAAAGGAA	A A	exon_loss_variant exon_loss_variant	HIGH	HG02922.hp2 HG02922.hp2	a0106 a0106	a0106c0108 a0106c0108	a0106c0108t0001 a0106c0108t0001	a0106c0108t0001g0145 a0106c0108t0001g0145	1	9	0.1111	-4261	c.372 others(21): Show c.37285+1042_38038+1041del	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	189/363			chr2	TogoVar
VRK2_chr2_58041806_58164871	58091566	AAAATGTA others(4254): Show AAAATGTAATTGAATATTTGATCTCTGCATTGGTTAAATTTCTTAATAAA AATTTTTTCAAAATGAAAGGTGAATGAGAAACTGGGAAATAGATAGATAA CAAATATTTGAGAATATCTAGCCGGTACTAAAAAAAAAATTAAGAAAAAC ACTAAATACCTTGTTAAAGCGATGATCGAAAAGAATGAATAAACAGAACA GAGAAGGAATATGACTGTCCTAGAAACAGGAAAAAAGGCTACCTTTGTGA AAAATGAGAAGATAAGGAGACCAAAACAGCGAGGCACCCTTTTTAAAGGA CTTATCAAATTGGAGAGGTCTAAAATAATAGTCTGATAATATTGAGGCTG ATAAAGGTACCAGCACTTTTAGAATGCCCTTTGGGAATGTAAATTAAATG GTATAAGAAAGTTAGTGGAAGGGAATTTGGCAATATCTGCATACTTTTCA AAGATTAGGTTTTTTGAGATATAATTTACAAACAGTAAATGTCACGCTTT TAAATGTACAGTTTGATATCTTTTGACAGATGTATGTATCATGTAACCAC TACTGCCACCAAGATGTAGAACATTTCTTTCATTCCCAAAAGTTCTCTCA TTCCTGTTTAGAGTCAGTCCCCTTCTCCTGGCATTGCTCCCAGCCCCAGG AGATGATTTCTGTCCCTATATTTTTACATTTTCAGGAATGGTATATAAGT GGAATTGTAAGGTATGTACTGTTTTGGGTCTGTTTTCCTTCACTTAACAT AATGCTTTTGAGATTTATCTTTGTAGGTCATTAGTAGTTCATTCCTTTTT ATTGCTGAGTAGTATTCTATTGAAAACTGCTACAATTTCTGTTCACCTGT TGATGGCTATCTGGGTTGTTTTCAGTTTTTGACAGTTATAAATAAAGTTG CTATAAGCTAAGCATTCACATACAGCCTTTTGTGGAGACATATGTTTCAC TTTCTTTTGAGTAAATAACTAGGAGTGGAATTTCTGGGTCATATGAAAGT GTATGTTTCACATGGAAACTGCCAAGTTGTTTTCTGGAGTGACTGTACCA TTAAACATTCCCATCAGCAATGTGTGATATTTCATTTGCTCCACCTGGTT TCATTTTTTTTTCCATACTTTAAGTTCTAGGGTACATGTGCACAAAGTGC AGGTTTGTTATATATGTATACATGTGCCATGTTGGTGTGCTGCGCCCATG AACTTGTCATTTATATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTC CCCCGACCCCATGACAGGCCCCGGTGTGTGTTGTTCCCCTTCCTATGTCC AAGTGTTCTCATTGTTCAATTCCCACCTATGAGTAAGAACATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTCCTGAGAATGATGGTTTCCAGCTTC ATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATA GTATTCCATGGTATATATGTGCCACATTTTCTTAATCCAGTCTATCATTG ATGCACATTTGGGTTGGTTACAAGTCTTTGCTATTGTGAATAGTGCTGCA ATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTT TGAGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTGTTTCTAGTT CTAGATCCCTGAGGAATCGCCACACCGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCT CCAGCGCCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTG TGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGT GATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTT TGAGAAGTGTCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTG TTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGT CCTTTGTCAGATGAGTAGGTTGCGGAAATGTTCTCCCATTTTGTAGGTTG CCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTT TAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGT GTTTTAGTCATGAAGTCCTTGCCCATGCCTGTGTCCTGAATGGTATTGCC TAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACATTTAAGTCTT TAATCCATCTTGAATTAATTTTTGTATAAAGTGTAAGGAAGGGATCCAGT TTCAGCTTCCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAA TAGGGAATCCTTTCCCCATTTCTTGTTTTTGTCAGGTTTCTCAAAGATCA GATGGTTGTAGATGTGTGATATTATTTCTGAGGGCTCTGTTCTGTTCCAT TGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGT AGCCTTGTAGTATAGTTTGAAGTCAGGTAGCCTGATGCCTCCAGCTTTGT TCTTTTGTCTTAGGATTGTCTTGGCAATGCAGGCCCTTTTTTGGTTCCAT ATGAACTTTAGAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAG CTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCA TTCTGATGATATTGATTCTTCCTATCCATGAGCATGGAATGTTCTTCCAT TTGTTTGTGTCCTCTTTTATTCCATTGAGCAGTGGTTTGTAGTTCTCCTT GAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTC TCTTTGAAGCAGTTGTGAATGGGAGTTCACTCATGATTTGGTTCTCTGTT TGCTGTTGGTGTATAAGAATGCTTGTGATTTTTGCACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGTTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAAATAATCATGTCATCTGCAAACAGGGACAATTT GACTTCCTCTTTTCCTAATTGAGTACCCTTTATTTTTTAAACTTAAAGCT CTCTTATTCATTACAGTTTATTATAAGTGGTTTTCCAGTTGTTCCAACAC TATTTATTTTAAAATATCTTTGCTTCAGTAATATTAGTTGTTACTTTTGT CATATACTCAGTTTCCTCATGTACTTGGTTTTATTTCTGTACTTTCTGTT GAATCACACTGATTTGTCTATTTATATAACAATACTAGCCATAAATACTT TTGCATTAATTTCTGAAGCTTTATAATGTAATTTAACATTGGATTGGACT AGTAGTTCCCTGTAGTTCTCCGTTTTCAGTGTTATCTTAGCTATTTATAC TGGATTTTCTGTATTATTTTGTTTAGTTTCATTTAAAAGGAATACTTGTG CTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGG CAGGTGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACATGGTG AAACCCCACCTCTACTAAAAATACAAAAATTATCCGGGCGTGGTGGCAGG TGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAG CCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATAC TTGTTGGCATTTTCATTGAAATTATGTTAAGTTTTAAAATTGATTTGGGG GAGACCTCACATCTGTATGATGTATAGATGTTCATATATGAACAAGGAAT GTTTCTGTTTTTCATCAATTTTGCATTAGGTCATTAGGATTATTTTAAAG CTTTCCTCTTACTAGTTTTGCATATTTCTTATTATGTTTGTTTCAAAATA TTATACCTTTTTGTTGATATTGTCAGTGGATTTATTCTATTATTTCTTAT TATTTTTGTTTATATATATGAAGAATTTTTATTTCCATGCATTAATTTTA TATCCTGTTAATTTACGGAATTATTTGTGGTTCAGAGTGGTTTTAGTAAT GGTTCTTTAGAGTTTTCTTAGAAAACTGTCATATGCAAGTAGATACAGTA GTTTTTCTTCTTTTACAGTTCTTGTATTTAATTTGTCTTGTCTAATTGCA TTGTCTAATACATTCAATACAGTATTAAATAGTAAGAAATGTAATCATCT TTTACTCTTCTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	338	0.0030	-4261	c.543 others(17): Show c.543+1846_543+6106del	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTN_chr2_178520989_178812423	178655278	ATATCTCA others(4253): Show ATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCA TACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGA CAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCT GGCCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATAAGGAA AAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGGCATGATTGTATATCTA GAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTT CAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAGATCACAAGCATTCT TATGCACCAATAACAGACAAACAGAGAGCCAAATCGTGAGTGACCTCCCA TTCACAGTTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAG GGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAA TAAAAGAGGACACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAA CTAATACCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAAT GCCATCTCCGTCAAGCTATCAATGACTCTCTTCACAGAATTGGAAAAAAC TACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATTGCCAAGTCAA TCCTAAGCCAAAAGAACAAAGCTGGAGGCGTCACGCTACTGTATTACAAG GCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGA CCAATGGAACAGAACAGAGCCCTCAGAATAATACCACACATCTGCAACCA TCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGGTTCCC TATTTAGCAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTG AAATTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGAG TAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACC TAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAA ATACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAGATAGGATCGAAT TAAACTAAAGAGCTTCTGCACAGCAAAGGTACTACCATCAGAATGAACAG GCAACCCACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACGAAG GGCTAATATCCAGAATCTACAATGAACTCAAACAAACGTGTAAGAAAAAA ACAACCCCATCAACAAGTGGGCGAAGGATACAAACAGACACTTCTCAAAA AAAGACATTTATGCAGCCAAAATACACAAGAAAAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACAC CAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACGACAGGCGCTGGAGA GGATGTGGAGCAATAGGAACACTTTTACAATGTTGCTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAG GATTATAAATCATGCTGCTATAAAGACACGTGCACACGTATGTTTATTGC GGCACTATTCATATTAGCAAAGACTTGGAACCAACCCAAATGTCCATCAA TGATAGACTGGATTAAGAAAATGTTCCACATATACTCCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAA ACTGGAAACCATCATTCTTGGCAAACTATCACAAGGATAAAAAACCAAAC ATTGCATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACATGGA TACAGGAAGGGGGACACCACACACCGGAGTGTGTTGTGAGGTGGGGGGAT GGGGGAGGGATAGCATTAGGAGACATACCTAATGTAAATGACGAGTTAGT GGGTGCAGCACACCAACATGGCACATGTATACATACGTAACAACCTGCAC GTTGTGCACATGTACCCTAGAACTTAAAGTATAATAAAAATATATATATA TATAAAAAGAAAAATATTTTCCAGAGCACAAGAGATAGATCATCTGAAGC CTAAAATCAGTGACAAATACCTTTAACAGGTGGGACTTCAGGCTTTTTAG GAGGAGTCGAGGGCACTTTCTTTTCAAGGACAACTTCTTTGGGAGCCTCT GGCACTTAAAAGATATTAGTAAAGTTACATGTGGAGCTATGGAGACTACT AGCAAAATATACAGCAGAGGAATTGGATCTTCTGAAGCTTAAGGTCAAAT GACAAGTACCTGTAACAGGTGGAACTTCTGGCTTTTTAGGAAGCACCAGT GTTTTCTTTTCTGGCACAATTTCTTGTGGGACTTCAGGCACTTGAAAGAT ATTAGTAGTTTTTCACTTAGGTTAATGAGACAAATGGAGTAAAATATTTC TAAGATCAGAAGAGATATTTCTTCTGCAGAAAAAGGACAGGGGTAAAAAA TACCTGTGGCAGGTGGGGCTTCTGGTTTTGTGGGAGGAGCCTTAGGAACT TTCTTTTCTGGGACAACTTCTTGAGCTTCAGGCACTTGAAAGATATTAGT AGTTTTAGACTTAAGTTAATGAAGAGAAATGGGCTAAAATTGTTTACAGT AGGAGAGGAGATATCTCTTCTGCAGAATGAAGTCAGGGCTAAAGTGTACC TGGGACAATCGGAGCTTCTGGTTTTTTGGGTGGAGCCACGGGAATTTCTT TTTCTGCGGCTTCTTGAGGAACTTCTGGCACTTGAAAGATATTAGTAGTT TTATACTTAGGTTAATGAAGAGGAATGGACTAAAATTGTTTTCAGGAATG GAAGAGAGATTTCTTCTGCAGGATAAGGTTGAGCTGACATGTACCTGTAA CTGCGGGGGCTTCTGGTTTTTTGATTGGTGCCTTGGGAATTTTCTTTTCT GGGACAACTTCTTGAGCAGCTTCAGGCACTTGAAAGATATTAGTATTTTT ATAATTTATGAATGGTGAAGGTATATATTACAGTGATTGTGAGGGGTACA GACGATAAGTTTTTCTTAGCAGAGGAGAGGGAATAAATACCTTTTGCACG TGGGGCTTCCGGTTTTTTGGGCACAGCCACAGATGCTTTCTTTTCAAGTA CAACTTCTTTAGGAGCTTCAGGAACTTTGAAGATATTAGTATCTTTTAGT TAGAAGCTATAAAGGGGGAATATCGACTCCACATTTACCCAAGCAAATAC AACTTGTGAGATCGGCGGACACTTCTATACAGTCTTTCCCCAGGGCCCCC CGACTGACAATGTGTAATGATACCTACCTTTAGGAGGTGGAGCTTCTGGC TTTTTGGCAGGAGGCACCGGTACTTTCTTTTCTGGGACCACTTCCTTCGG TGGCAGCACTTCAGGCACTTCAAAGATATTTGTAATTTGTGTTTAGAAAA GGTGAAAACGATGGATGCCTTTTGCATATAAACACCCACCAAGATATTTT GGATAGTGATTGACATTTGTTTTCTTTAGAATTATATCATCTTTATGTAG TAGGATTTTTAACATGTAATTTCCTAGTTAAAATAACAGTTATTTTTCTC CTATAGTTTGTATAGCTTTGGCATTACCTTCAGGGGGAGGACTTTCCGGT TTGGGAGGAATAGCTTCAGGCACCTTCTTTTCTGGGACAGCTGCCTTTGG CACCTCTGGGACTTTAAAGATATTAGTATTTTCATTATTAGACAAAGTAA AGACAAACAAACAATATCAAACACAGCAACAAGAGGGTGTCTACCTTTTG TGGGTGGCACTTCAGGCTTTTTAGGAGGAGGCACTGGCACTTTCTTTTCA GGAACAACTTCTTTGGGAGCCTCAGGCACTTGAAAGATATTAGTGAAATT ACATTTAGGCATTATGAAGACCACTAGAAAAATATTTTCCAGCAGCACAT CAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGGAAG GCTGATTCAACATACAAAAATCAATAAACGTAATCCATCATATAAACAGA ACCAACGACAAAAACCACATGATTATCTCAATAGATGCAGAAAGGGCCTT TGACAAAATTCAACAGCCCTTCATGCTAAAGACTCTCAATAAATTAGGTA TTGATGGGACG	A A	exon_loss_variant exon_loss_variant	HIGH	HG01099.hp1 HG01978.hp2 HG04204.hp2 others(3): Show HG01099.hp1 HG01978.hp2 HG04204.hp2 NA18970.hp1 NA18987.hp1 NA19054.hp1	a0045 a0060 a0138 others(3): Show a0045 a0060 a0138 a0156 a0160 a0171	a0045c0063 a0060c0130 a0138c0132 others(3): Show a0045c0063 a0060c0130 a0138c0132 a0156c0134 a0160c0044 a0171c0090	a0045c0063t0002 a0060c0130t0002 a0138c0132t0002 others(3): Show a0045c0063t0002 a0060c0130t0002 a0138c0132t0002 a0156c0134t0001 a0160c0044t0001 a0171c0090t0002	a0045c0063t0002g0155 a0060c0130t0002g0103 a0138c0132t0002g0233 others(3): Show a0045c0063t0002g0155 a0060c0130t0002g0103 a0138c0132t0002g0233 a0156c0134t0001g0232 a0160c0044t0001g0161 a0171c0090t0002g0198	6	170	0.0353	-4260	c.372 others(19): Show c.37286-283_38039-284del	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	189/363			chr2	TogoVar
TTN_chr2_178520989_178812423	178655278	ATATCTCA others(4253): Show ATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCA TACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGA CAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCT GGCCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATAAGGAA AAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGGCATGATTGTATATCTA GAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTT CAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAGATCACAAGCATTCT TATGCACCAATAACAGACAAACAGAGAGCCAAATCGTGAGTGACCTCCCA TTCACAGTTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAG GGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAA TAAAAGAGGACACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAA CTAATACCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAAT GCCATCTCCGTCAAGCTATCAATGACTCTCTTCACAGAATTGGAAAAAAC TACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATTGCCAAGTCAA TCCTAAGCCAAAAGAACAAAGCTGGAGGCGTCACGCTACTGTATTACAAG GCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGA CCAATGGAACAGAACAGAGCCCTCAGAATAATACCACACATCTGCAACCA TCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGGTTCCC TATTTAGCAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTG AAATTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGAG TAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACC TAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAA ATACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAGATAGGATCGAAT TAAACTAAAGAGCTTCTGCACAGCAAAGGTACTACCATCAGAATGAACAG GCAACCCACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACGAAG GGCTAATATCCAGAATCTACAATGAACTCAAACAAACGTGTAAGAAAAAA ACAACCCCATCAACAAGTGGGCGAAGGATACAAACAGACACTTCTCAAAA AAAGACATTTATGCAGCCAAAATACACAAGAAAAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACAC CAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACGACAGGCGCTGGAGA GGATGTGGAGCAATAGGAACACTTTTACAATGTTGCTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAG GATTATAAATCATGCTGCTATAAAGACACGTGCACACGTATGTTTATTGC GGCACTATTCATATTAGCAAAGACTTGGAACCAACCCAAATGTCCATCAA TGATAGACTGGATTAAGAAAATGTTCCACATATACTCCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAA ACTGGAAACCATCATTCTTGGCAAACTATCACAAGGATAAAAAACCAAAC ATTGCATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACATGGA TACAGGAAGGGGGACACCACACACCGGAGTGTGTTGTGAGGTGGGGGGAT GGGGGAGGGATAGCATTAGGAGACATACCTAATGTAAATGACGAGTTAGT GGGTGCAGCACACCAACATGGCACATGTATACATACGTAACAACCTGCAC GTTGTGCACATGTACCCTAGAACTTAAAGTATAATAAAAATATATATATA TATAAAAAGAAAAATATTTTCCAGAGCACAAGAGATAGATCATCTGAAGC CTAAAATCAGTGACAAATACCTTTAACAGGTGGGACTTCAGGCTTTTTAG GAGGAGTCGAGGGCACTTTCTTTTCAAGGACAACTTCTTTGGGAGCCTCT GGCACTTAAAAGATATTAGTAAAGTTACATGTGGAGCTATGGAGACTACT AGCAAAATATACAGCAGAGGAATTGGATCTTCTGAAGCTTAAGGTCAAAT GACAAGTACCTGTAACAGGTGGAACTTCTGGCTTTTTAGGAAGCACCAGT GTTTTCTTTTCTGGCACAATTTCTTGTGGGACTTCAGGCACTTGAAAGAT ATTAGTAGTTTTTCACTTAGGTTAATGAGACAAATGGAGTAAAATATTTC TAAGATCAGAAGAGATATTTCTTCTGCAGAAAAAGGACAGGGGTAAAAAA TACCTGTGGCAGGTGGGGCTTCTGGTTTTGTGGGAGGAGCCTTAGGAACT TTCTTTTCTGGGACAACTTCTTGAGCTTCAGGCACTTGAAAGATATTAGT AGTTTTAGACTTAAGTTAATGAAGAGAAATGGGCTAAAATTGTTTACAGT AGGAGAGGAGATATCTCTTCTGCAGAATGAAGTCAGGGCTAAAGTGTACC TGGGACAATCGGAGCTTCTGGTTTTTTGGGTGGAGCCACGGGAATTTCTT TTTCTGCGGCTTCTTGAGGAACTTCTGGCACTTGAAAGATATTAGTAGTT TTATACTTAGGTTAATGAAGAGGAATGGACTAAAATTGTTTTCAGGAATG GAAGAGAGATTTCTTCTGCAGGATAAGGTTGAGCTGACATGTACCTGTAA CTGCGGGGGCTTCTGGTTTTTTGATTGGTGCCTTGGGAATTTTCTTTTCT GGGACAACTTCTTGAGCAGCTTCAGGCACTTGAAAGATATTAGTATTTTT ATAATTTATGAATGGTGAAGGTATATATTACAGTGATTGTGAGGGGTACA GACGATAAGTTTTTCTTAGCAGAGGAGAGGGAATAAATACCTTTTGCACG TGGGGCTTCCGGTTTTTTGGGCACAGCCACAGATGCTTTCTTTTCAAGTA CAACTTCTTTAGGAGCTTCAGGAACTTTGAAGATATTAGTATCTTTTAGT TAGAAGCTATAAAGGGGGAATATCGACTCCACATTTACCCAAGCAAATAC AACTTGTGAGATCGGCGGACACTTCTATACAGTCTTTCCCCAGGGCCCCC CGACTGACAATGTGTAATGATACCTACCTTTAGGAGGTGGAGCTTCTGGC TTTTTGGCAGGAGGCACCGGTACTTTCTTTTCTGGGACCACTTCCTTCGG TGGCAGCACTTCAGGCACTTCAAAGATATTTGTAATTTGTGTTTAGAAAA GGTGAAAACGATGGATGCCTTTTGCATATAAACACCCACCAAGATATTTT GGATAGTGATTGACATTTGTTTTCTTTAGAATTATATCATCTTTATGTAG TAGGATTTTTAACATGTAATTTCCTAGTTAAAATAACAGTTATTTTTCTC CTATAGTTTGTATAGCTTTGGCATTACCTTCAGGGGGAGGACTTTCCGGT TTGGGAGGAATAGCTTCAGGCACCTTCTTTTCTGGGACAGCTGCCTTTGG CACCTCTGGGACTTTAAAGATATTAGTATTTTCATTATTAGACAAAGTAA AGACAAACAAACAATATCAAACACAGCAACAAGAGGGTGTCTACCTTTTG TGGGTGGCACTTCAGGCTTTTTAGGAGGAGGCACTGGCACTTTCTTTTCA GGAACAACTTCTTTGGGAGCCTCAGGCACTTGAAAGATATTAGTGAAATT ACATTTAGGCATTATGAAGACCACTAGAAAAATATTTTCCAGCAGCACAT CAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGGAAG GCTGATTCAACATACAAAAATCAATAAACGTAATCCATCATATAAACAGA ACCAACGACAAAAACCACATGATTATCTCAATAGATGCAGAAAGGGCCTT TGACAAAATTCAACAGCCCTTCATGCTAAAGACTCTCAATAAATTAGGTA TTGATGGGACG	G G	exon_loss_variant exon_loss_variant	HIGH	HG02300.hp2 HG02300.hp2	a0076 a0076	a0076c0050 a0076c0050	a0076c0050t0001 a0076c0050t0001	a0076c0050t0001g0131 a0076c0050t0001g0131	1	165	0.0061	-4260	c.372 others(19): Show c.37286-282_38039-283del	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	189/363			chr2	TogoVar
GRIN2B_chr12_13532337_13986602	13923741	AGCTCCTT others(4244): Show AGCTCCTTGTTTAAGGGCCATATTTGCTGATTACAGAAAATTTAGCCACT GTGGACCAAAAGAGGAAATAAAGTCTAAGGGTGAAGCCAGTCTACCCTCA GCCCAAATGGATGTTTCTACCATTGAACAAACACCCTACACTGTCTCCAT GACAACTCACCTACATTGCTTTTGGGCCAGAATAAGAAAGCTACTCCAAC AATAACTAACAAGGCCACTCTCTTGTAAGGAGAATTTGAAAAGGAAGGAT GAATATTTTCTTCTCAGTTTTGGAGAGAATGAAGATTCATTTCTTACCCT ATAAAAAACAGAGAATCTTACTCTTATTGTTCTTTCTTCCCAGAATCTAT AACCTGTGCCTCTGGGGGGACTAGTCAGTGCCACATTCTGGTTGGTGCTT TAAAAAGACCCGAGGCATACACTGCACACAGCATGTAAAAGCGGTACACA GTAATAGGTATATTGTATATGGATAAGATATCTAGGATAGTATCAGTCAG GGTCCCAACATAAAACAGATGGCAACTCCAAATGGGAAGATAGAGGAGAG TTTAATGAAGGGACTATTTTAAAAGGTGTGGGCAGAGTCTAAGGGAACCA ACAAGGACTGGTGAAATGCCCAGGCTCTGACAACTGTGAGAGCTATTATC ATCCCTGCTCCCCCAAAGAAGAAAGGTGAGGGAGCTGCTAATAGAACCCA GCAGGAGCTGGACGTGTATGAGTGGCCACCCTACAGGAGCTCTGGCTTTT GGGAGAAGAAGGCAGGGATTCTCAACCCACAGCACAGCAGGGATAGAGGG AGCTGGGGAAAGGGCCATCTAACCTCACCCTCCTGACTGCTCTCTCCTGG CCAATGCTAACCAGATCCTTAGGAAATCCACTGATCCTGTCTACAGGGTT CAGTCTCATCACGGTCAAAGCAGAGTGAGAAGAATGGGAAGAGGATCTAG AAGAGCAAAAAGAGGAATATCTGTATCTTCACTGATATCTATATCTATAT TTCTCACACCATGGCAACTTTTCACGTATTCCTCCAAAGTGTGTAATTTT TTAACCCTTCTATTTCTGTGTGAGATCTCCTTATCCTCTCTAAATGGTAA TCTGCATTTTATTTAAATTTCACAGTTTTACACCCTAGAGCATAGGGTGC AAAAGTGGTATTTTCCTATTTCCCACTATCCATGCCCAGTCACAGACATG GACAAAACCTTCCTTAAGGCTATAATCATGAAATAAAAATGAAGGCAATG GTAGAAATGCTAACTGTCCTCCAAAACCTCAAAGGACAAAGAAAATCTGT GCTTTAACAATACATAAAAACCAGAATCCAGGTATCATTTAATGCACACC TGAAACGAAAACCTACACTAAGAGGACAATGAAAAACAATGGCTGAAGCG CCAGTGTTGCCTTTGACTATGGCACTGACCTCCACTTAGCCTGACTTCAC CTTAGAAACAGCCCTCAGCAGCTCCCAGTCTTTGACTATAGGCAAAGTCC AAGGCTTCCTATAAAAACTTGACCCACGACCCTGGTTTCTGCAAAATCCT ATTTTACGAAGCATAACAGAGCAGGAATAACAGGAAGAAATTAAGGAGTA ATTTAGGAATGTGATGTTAGAAGAGACTCCAACAAAAGGAGAGCTGTTAT GTCACAAAAGGACTGCAAAAGAAAGTAGGACAGCTGTCATTTTTGAGATG TTTACTGACAGAATCTTCAAAGCACAGCTTCTTTTTCTGATTTCCACCAT TTTGAAAAGAAACATGTTTATGGCTCAGCAGGTCAGACCAGCACTTCTTA CACTTTATCTCTCCCTGGACAGTGGCACCAGATGCTTTATGATCAAGCTG AATTCACCATCACCTATGGCATTAGCCTCACACTTAAGGAAGGACCCCCG AAACACCCCGCACTTCCCTAACAGCCTTAAAACTAACCAAGCCCAATAGT CACCTTACTCCACCTTTCATTCCTGGCTATTAAAATTCAAGCATTTCAAA GCTATTGAAGCTATTAATAGTGCAATTTTGATGAGCTAGTTCAAAGTCAG CACTAATGACCTGTTGATGATTTTAATGGTTTTTACAATAAGTACTGCGA ATGACCTATTGTTAAAATACAGAGTGACGGGCTTTTACATTAATCCATTA ACTCTTCTTTTCTCGTCATTCTTTCCAGACTAAACTATTTTCCTCCGTTC AATTTGAAGAGTTCATAGATAAAGAAAACTAAAGTACACAGAAAGAATAC GTTTTAGCAACTGACAATCAGAGGAGGCAATGGAACGGGGCAAGAATATG CCAGATCTGAAGTAAAGGCCAAGTCCTGTGTGTATGAAACTGTGGGTTAG AGAGGGAATAAATCCATCTGGGGCACACTTAGACCAAGGAGAAGAAAGGG AAATGGTGCAAATTGAGAAGGCAGAAAATGAGAAGGTGTCGGAGATGGAC AGAATGACCAGGCCAGGGAACTACTAGAATCCAGAATCTTTAAAAAGCCA CTCCAGCTTCAGCAACACACACCCAATGACAAAAAGCAACATCTATCCCC CGTTCGTCACTTCCAGGTTCACTGCTCTTGTTCTGTACCTTATTGAATCT CGGGGCTATCGACCCTTGCCTGGTGTGTATCCTTAAGCCCATCCACACCT AAACAATGTGCATTGCTTTCCTCCCGGGAGCAGAAGCAGCTACTCTCCTG ATTGGTTTTATCCTTCTCCAGTTGACAGCATGTGCTCAGAGACCACCTTG TACGATAACCCTCCTTCCCCAGTTTCTCCAGCATCATCCTGCCCCATGGA TGGAACCTGGATGAGAGCTGAGAAGGATGTCCAACAATTATAGAAGGAGC AGAGTGAGTCTACAAATGAGCAAAGTCAAGGACTTTACCACCTGCCTGGC TCTGCCTGCATTTTTAAAAAGACAAATTTGTGGCCGGGTGTGGTGGCTCA TGCCTGTAACCCCAGCACTTCGGGAGGCCGAGACGGGCGGATCACGAGGA GAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCAAGCTCTACTA AAAATACAAAAAATTAGCCGGGTATGGTGGCAGGCGCCTGTAGTCCCAGC TACTTAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCT TGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCGC GACTCCGTCTCAAAAAAAAGAAAAAAAAAAAAAGACAAATTTGTATGGAA GGCATTTAAGGGGATGTAAATGTGTATGGAAATTCAGGAACCAGGATACA TGGCTGAGAGCATTTGAGTGAAAGATAAAATAAGACAGATAATAATATCA CTGTAAGAGCAGAGACCACCCAACATCTCAGCCTGAAAGAGGATATTGAA AATATTTACTGAAAGAAATCACAAAACTGGCAGAAAGGCAAGATATGATA GCGATACAAGATTTCAAGTATTTAGACATGCTAGAAGTTTAATTCTTTTA AAACAGGGCATCTGATTTTTCCTTCTAACAGCAGTATTTCCCTGGAGGTT AAGAAATCTTTGAGAAGAGCTGCTATCGGGGGTTTAATTTTCCACCTCAA GGAAGCCTTAGTAACAGGCTAGAAATGTTTTTTTCTGTAAAGTGACAGAT AGTAAATATTTTACACTTTGTGGGCCATATGGTCTCTGCCTCTGTCATAG CTATTCGACTTTGCCCTTGTAGTGCAAAAGCAGCCATAGACACTACTAAA CAAGCAGATGTGGCTGTGTTCCAATAAAACTTTATTTATAAAAACAAATA GCAGACCAGATTTGGCCTACAGACTGTAGTTTGCCAACCCCTGCCCTAGA TGGTTATATGGAACTAACGATGTCCCAGTGAGAAAATGACCACACCCTAC CAGTGTTTATATTAGCTAACAGAGAGGGTGCAGCCATATGCAGTGGCTCA CACCTGTAATCCCAGCAATTTGGGAGGCTGAGGTGGGAGGATCGCTTGAG CCCAGGAGTACAAGACCAGCCTGGGCTACATAATGAGACCCCCATCTCTA CAAAAAAAATAAAAATTAAAAAAAAAATTAGCTGGGTGTTGTGGTACATG CCTGTAGCCCCAGCTATTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCC CGGGAAGCCAAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCC TGGGAAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAGGGGGGGT AT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	192	0.0052	-4251	c.-19 others(19): Show c.-19+51936_-19+56186del	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	2/13			chr12	TogoVar
ADARB2_chr10_1172313_1742525	1235685	CCCCTCTG others(4240): Show CCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTG CTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGG CGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTT TCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGT GGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTT GACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGC TGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCG TGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGG AGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCC CACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAG TGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCT GTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCC CGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCA GCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAAT GATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAG CCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTT CCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCT CTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCC TGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTG CCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCCCTGCCTCCCGGTGTTTACTCCCATCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCC CCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC ACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGG CGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTAC TCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCCC CCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTG TTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0034 a0011c0011t0034	a0011c0011t0034g0076 a0011c0011t0034g0076	1	106	0.0094	-4247	c.136 others(19): Show c.1361+2199_1362-1841del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ZNF677_chr19_53230381_53259873	53231017	CAGAAAAC others(4240): Show CAGAAAACCTGACCTGGGTAATTTATATGTATGTATATAATTTATGTATG TGTATATATATAATTTATTTCTTCCAGCTCTGGAGGCTGGGAAGTCCAAG GCTGAGCGGCTACATGTGGTGAGGGCCTTCTTGCTGCATCATAACAGAAG TCATCACATGGTGAGAAGGAGGAAGCATGCCAGCTCAGCTCTCTTTTCCT CTTCTTATAAGGCTACTAATCCCAACATAGGGAGCCACCCCCATAACTTC ATCTATCCCTAATTACCTCCCAAAGGCTCCCACCTCTAAATACCATCAAC ATATGGATTTGAGGATTCAATTTCCAACATGAACTTTTGGGGAATACATT TGAACATGGCACCCAGTCACCATTTCCTAAAAGAATAATACTGCAGGTAC CCAAAACAACTGAACAAAGACATTAGGCACCATTTGCATTCCCTCTCAAA GTTTCTAAAACCATCTCCAGTTTTGAGGTCAATATGTCTCAGCTACTTTT CTATACTGCAATGTCCTTTGTCCACTTAACAGTACCACCACTGCAATCTG GTGCTCAGAACTGTTTTCCAGAAGGCGTTTCCTGTATGGTTCTTGCTAAA CTTTGCCAATGAGAAAAACCTGAATGGGCCAGGCGCAGTGGCTCACAACT GTAATCCCAGCACTATGGGAGGCTGAAGTGGGTGGACTGCTTGAGGTCAG GAGTTCAAAACCAGACTGGGCAACATGGCGAAAACCTGTCTCTACCAAAA ATACAAAAATTAGCCCGTCTCTTAACCCGGTCTCAAAATAAATAGATAAT AAATTAAAAATAAAAAAAAATTTAAAATGCTGTTAAAAAAAAAAAAAAAG GAAAACCTGAATGGAATAGGAAAGGCAGAAGTGAAGCACTAAGCCATTAA TCTCAGATGAATACTGCACAGACCTCACCATCTCTAATCCCAATCAAGCA GCCAGAAGCAGTAACTTCTAAGACATCTCCATGAGCTCTGGTTTCTCACT GAAGCTGCCAGTGACTATTTTTCTTTGATATTCCTGCTGGAGTCTTCCAC ACCTTTCACTGCTCAAGCACCTCCAAAATTCTTTTTATTTTATTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCAC GATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTG CCTCGGCCTCCTGAGTAGCTGGGACTGCAGGCCCCCCACTACCACGCCCC GATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAA GTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAAAAATTCTTAACA TATAACTATTCTTATTCTTGAAGTAATTGTATACGTTTTCCTAAACACAG ACTAATACAATCATTCAGAATAAAGCTAATTCCATGTTTTCAAAGTTTAT TCATCACAATCTGTATTACTGTATTGGTCCTGAGTCTCACTCTGTCACTC AGGCTGAGTGCAGTGTCAGTCATGGCTCACTGCAGCCTCAACCTCCCTGT CTCAAGCAATCCTTTCACCTCAACCTCCCGAGTAGCTGGGACTACAGGTG CATGCCATGACACCCAGCTAATTTTTTATTTTTTGTAGAGATGTGGTCTC ACTATGTTGCCCAGGCTAGCCTCGAACTCCTGGACACAGGTGGTCCTCTC TCCTGAGCCTCTCAAAGTGCTGAGACTACAGGTATGAGCCATAGAACATT GCCAACTTTGCCGAAATCCAGAATGCTATCAAGAAAGTGGAAAAACAGTA CACAGAAGTGGAAAAAGTACTGGCAAATCTCATAAGGGTGTAGTATTCAG AATATAAAATAACTCATAACTGAACCAAAAATACACAATCTAATTTTTAA AACATTAAAAGAAATGTCTGAGTAGACATTTCTCCAATGAAGATGCACAT GGCTAATAAGCATAGGAACAGATGCTCAACATTCATCATTAAGGAAATCC AACCACAATGAAATATCACTTGTAAGTGACTAGAAGGCTATATACTACTA CTACTGTGAACCCAACAACTACAAACATCAATAATCGATAGGAAGTGCAG AAAATGGAACACTGGAACATCGCTGGTAGAAAAGTAAAATGGTGCAGCTG CCTTCGAAAACAGTTTGGTGAATCCACAAAAAGATAATCACTGATAATTA CTATATGACCCAGAAATTCCACGTTTACAGACATACCCAAGAGAAGTGAA AACATGTATGTGCAAAAACATCTTGTAAAAAGTTGTTCATAGCAGCATTT TCCATAATAGCCTAATTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGTGATCTGGGCTCACTGCACGCTCCGCC TCCCGGATTCATGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGAGACT ACAGATGCCCGCCACCAGGCCAGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTTGCCATGTTAGCCAGGATGGCCTTGATCTCCTGACCTCGTGAT CCGCCCATCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACTG CACCTGGCCCATAATAGCCTAATTTCAAACAGTAGAAAGAGTTCAAATCT CCATCAAATAATGAATGGACAGACAAACTGTAGAATATTATTCAGCAACA AAAAGTGATGAGGTATTAGGCTGGGTATGGTGGCTCACACCTGTAATCCC AGCACTTTGGGAGGCCTAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGA GATCAGCCTGGCCAATATGGTGAAACCTTGTGTCTATTAAAAATACAAAA ATTAGCTGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCGAGAGGC TGAGGCAGGAGAACCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCTG AGATTGTGCCACTGCACTCCAGACTAGGCACCAGAGTTAGACTCTGTCTC AAAAAAAAAAAAAAAAAAAGTTATGAGGTACTAACAAATGTTAATTTTGG GTGGGTGGTATTTTTTATAGTGACAGTTTGCCCAGGCTAGTCTCGAATTC CTGGGCTTAAGCGATCCGCCCATCTTGGCCTTCCAAAGTGTTAGAATTAC AGACATGAGCCACTGTGCCTGGCCTAGAAATTGATTTTTTTTTTGGACAG GGCCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATAATCCTAGTTCA CTGTAACCTCCAACTCCTGAGCTCAAGGAATTCTCCTGCTTCAGCCTCCT GAGTAGCTGGCACTATAGAAATGTGCCACCATGCCCAACTAACTTCTAAA TTTGCAGACAGGGTCTTGACATATTGCCTATGCTAGTCTCAAACTCCTGG GCTCAGGCAATCTCCTCGCCTGGGCCTCTCAAAGTGCTGACATTACAGAT GTCAGCCTCCCTGCCCAGCCGGCTAGCTGAAAATTTAAACCACAGATGAG TATTCACTCCAGCCCCACCAGATAAACATCATAACACCCCAAGTCAATCA TCTTTCACTGCCTTCTCTAGCCATTTTTTAACCAGCTTGGGAAGTCTACC CTGTTCTCTCCAGAAAGCCTTTTGTAATAAACATTCTTATAATACTTTGA TGTAGAGTACCACCAATCCTGAAATCTAAACCAAACTTTGCACGGGGTTC CCTCCTGTTCCAGTGGAGTGGCGACAAGTGCAAATCAGTAAAAAAAAATG TTTTGGGGGTAAATACATGAGGTTTCTAGTTTCTTTAAAAAAAAAATCCA TTGCTTATGTTCATTATTAAGGGGAAACTCATGAACACTGATTTTTTTCA AATTATTTCACGGAGTGCTCCAAGTACAAAAAAAGAAGTTGTGTTATTAT TTCAGAAATTTCATTTACTAATAATTTTCATATGCTTACATTTGTTATTT TCCTCTCATGTAAAAGGCATGCAGAAATAAAGTTATGTAGAAAAAAAGGC ATGTAGAAATATAACTGCACAGTGCATATTCATGAACAGGAAGACAGGTT TCAGGGGGTCTGATATTGTCCCACTATGGCATGGCATTTTCATTATAGCC ATAGAAGTCATCTAGGGCAGAGTGTGGAGAAAATATTTCAAGTGCAAATT ATGAATATATACTTCTTAAATTGTATACTGTTTGAACATAACATGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0069 a0001c0001t0007g0069	1	404	0.0025	-4247	c.17 others(11): Show c.1708_*5954del	ZNF677	ENSG00000197928.11	transcript	ENST00000598513.6	protein_coding		4363		chr19	TogoVar
ALMS1_chr2_73380836_73614916	73481578	ATGAACTT others(4239): Show ATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGGCATTGGTAG CTTGATGGGGATGGCATTGAATCTGTAAGTTACCTTGGGCCGTATGGCCA TTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCAT TTGTTTGTATCCTCTTTTATTTCCTTGAGTAGTGGTTTGTAGTTCTCCTT GAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTC TCTTTGAAGCAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTT TGTCTGTTGTTGGTGTATAAGGATGCTTGTGATTTTTGTACATTGATTTT GTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGG CTGAGACAGTGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGG GACAATTTGACTTCCTCTTTTCCTAATTGAATAGCTTTTATTTCCTTCTC CTGCCTAATTGCCCTGGCCAGAACTTCCAACACCATGTTGAATAGGAGTG GTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCC AGTTTTTGGGCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAAC TCTTATTATTTTGAAATACGTCCCATCAATACCTAATCTATTGAGAGTTT TTAGCATGAAGTGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATT GAGAAAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTAC ATTTATTGATTTGCATATATTGAACCAGCCTTGCATCCCAGGGATGAAGC CCACTTGATCATGGTGGATAAGCTTTTCGGTGTGCTGCTGGATTCAGTTT GCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGG TCTAAAATTCTCTTTTTTTGTTGTGTCTCTGCCTGGCTTTGGTATCAGAA TGATGCTGGCCTCATAAAAAGAGTTAGGGAGGATTCCCTCTTTTTCCATT GATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTTCTTGTACCTCTG GTAGAATTCGGCTGTTAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTA AGCTATTGATTATTGCCACAATTTCAGATCCTGTTATTGGTCTATTCAGA GATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAA TTTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCATAGAGGTGTTTGT AGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCC CCTTTATCATTTTTAATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTT TATTAGTCTTGCTAGCAGTCTTTTGTTGATCCTTTCAAAAAACCAGCTCC TGGATTCATTAATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGT TCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGT TTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTT TGGATCTTTCCTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCT CTACACACTGCTTTGAATGTGTCCCAGAGATTCTGGTATGTTGTGTCTTT GTTCTCGTTGGTTTCAAAGAACATCTTTATTTGTGCCTTCATTTCGTTAT GTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAG CGGTTTTGAGTGAGATTCTTAATCTTGAGTTCTAGTTTGATTGCACTGTG GTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGTTGAGGA GAGCTTTAGTTCCAAGTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGT GCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGAT GTCTATTAGGTCCACTTGGTGCAGAGCTGAGTTCAGTTCCTGGGTATCCT TGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTA AAGTCTCCCATGATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACT CAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATATATAT TTAGGATAGTTAGCTCTTCTTGTTGAATTGATCCCTTTACCATTATGTAA TGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATC AGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGGT AGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCATGTG AGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCA ATTTGCCAGTCTTTGCCTTTTAATTGGAGCATTTAGTCCATTTATATTTA AAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCT GGTTATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTTGATGGTCT TTACATTTTGGCATGATTTTGCAGCGGCTGGTACTGGTTGTTCCTTTCCA TGTTTAGTGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTAGTGGTGACA AAATCTCTCAGCATTTGCTTGTCTGTAAAGGATTTTATTTCTCCTTCACT TATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTT CTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTATAGGGTT TCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAAT CCGACCTTTCTCTCTGGCTGTCCTTAACATTTTTTCCTTCATTTCAACTT TGGTGAATCTGACAATTAATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAATGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCCCATCACTTTCAGGTACACCAATCAGACGTAGATT TGTTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCT TCTTCCATCGCTGATACCCTTTCTTCCAGTTGATGGCATCGGCTCTTGAG GCTTCTGCATTCTTCACATAGTTCTCGAGCCTTGTTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTACACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAGTCATTCTCCATCCAGCTTTGTTCCATTGCTGGTGAGGAACTGTGT TCCTTTGGAGGAGGAGAGGTGCTCTGCTTTTTAGAGTTTCCAGTTTTTCT GCTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTTGGTGTGGATGTCCTTTCTATTTGTT AATTTTCCTTCTAACAGACAGGACCCTCCGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGAGGTGCCTCCCTGTT AGGCTGCTCAGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGTGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTACTGCTGCTTTTTG TTTGTCTGTGCCCTTCCTCCAGAGATGTAGCCTACAGAGGCAGGCAGGCC TCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCAGGCTGCTTTG TTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGC TGCCACCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGAC TCCGTGGGCCTAGGACGCTCGGAGCCAGGTGCGGGGTATAATCTCGTGGT GCGCCGTTTTTTAAGCCGGTTGGAAAAGCGCAGTATTCGGGTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	246	0.0041	-4246	c.767 others(19): Show c.7675-8052_7675-3807del	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECPAS_chr9_111355685_111489383	111466265	GTGAAACC others(4238): Show GTGAAACCCATGTCTAGTAAAAATACAAAAATTAGCTGGGCATGATGGTG TGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTG AACCCGGGAGGTAGAGGTTGCAGTGAGCCATGATGGCGCCATTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAATAAAAAAAAAGAAA GAACAAAAAGAACATTTGATCTCAAAGGAAAAGTATCAAAACCCTGAGAA TCTTAAAATTCCAAAACAAAACAAAAATCCAGTTTAGCTCATGTTAACTA TGACATTCTTGTAGGAGGAAAAAAAATCTACTAAAAATATAAATAACTAA ATACACACACACACACACACACACACACACACACACACACACGTTTTTAT TTTGGAGACAGGGTTCTGCTGTTGCCCAAGCTGAGGTGCAGTGATGCAGT TACAGCTCATTGCAGTCTCAAGCCATTCTTCCACCTCAGCCTTGGAAGTA GCTAGAATCACAGACATATGCCACTGCACCCAGCTAGTTGTTTTATTTTT TGTAGAGATGAGGTCATCCTATTTTGCCCAAGCAATCCTCCCACTTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCTCATTT ATTTTCCTTTAAATAATTCAAATTTATCTTATTCGCCTGTCTTTAGTTTC TCTATCTAAAGACGAAGAAGGAACACTCCCTCCTCCTACCCGCATAAAAA GAAAACGACCAGTAAAGGTTTAAAGACTTCAGCACATTCTTCAGATCTCT CTCAAAAACACAACTTTAACTTCTAAATTAGGGAGGAAAAGCTATTTTCT TACAGGACTAGAAAAAACAATAAACCTACAATTACTTATTTTTCCCTCAC ATCATTATTAATGGAAAAAGCATGTTAAAAAAGAGAAGAGAAAAAAGAAG AGAAGAGATGAGAAAAAAGAAGAGATGAGAAAAGAGAAGAGAAGAGAGAA GAGAAGAGAAATCAGTTTCCTTTCAGGACAACCTGAACATCAAAATAGTC CTTTAAAATTATACAAGAAAAGTATACTATCAAAAGGAATAGAGAAAGGA TTCTATTTAAGGCAATGTTATCCCTGTTTGGTTGAATTTCAGAGGATTCT TTCTGGTTTGTTTAATTATGTGTCATTACTAACTTACTTCATGAGCACGA ATTACTTGCGTGAATTTCTGAGTGACAGGTTTCAGGTTTTTTAAGGTTGC TTAAATTTTCTACAAAAAATATTTTTTTCCTGAATATGAAAGTAAATTTT AAAATACAAATCAGGTTAGAGGTCTTAAGTAGAAGCTGAAATTGAAGAGA AAGCTGAAAATACCTAAGACCACCGCTAACACCACACGATATTTTTTAAA AGATCTATCAAGTTACTACAGAAATATATTACACTATAATAGACGATTTC AGAAAGAAATATTCTCTCTAATGGTATTTACTTTCTTCTGATTCACAGAT ATAAGTATATAAAATACATCACAGTCACAAAGCAGTTTCACATGGCCTTC TGAGCCTCAGAAAAATGTTGTGAGGTGCACTTATAGATGCATTTATAGAC TCACCACCTAACTGACCTGCCAGAGGTCACCATGTGAATGATACACAGAT TCAGAAGCTGAACCCAGGACCTGAGGTCAGGAGTTCAAGACCAGCCTGAC CAATATGATGAAACCCCATCTCTATTAAAAATATAAAAATTACTCAGGCG TGGTGGCATGTGACTGTAGTCCCAGCTACTAGGAAGGATGAGACAGAACT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGC ACTTCAGCCTGGGCATCAGAACAAGACTCAGCCTCAAAAAACAAAACAAA ACAAAAACAAACAAGCTGAACCCAGAGAGGGCTTTACCCTCCAAGCGCAC ACTGGAACACAGTACCTGCCTGTAAAGAACTTCTAGTAAAGCAAGTAGTA TTAGCTCCAATTTACAGTTGAGGAAACAGAGCCTTGAAAACATTCTGTTG ACCAAGATTCCAAAACTACTAAGTGGCAGGGCTGATTCAAACCCTAGACA GTCCAATGCTCCTTCTAGCACACTAAATTATAACATGGTTTAAGCGAGAA AGTAGGTGGAGAAGATACTAAATCTTACTAGACAACTGTATACGACGTGA CTCCAAACCAGCAGAGATGCAGCAGTTACTGCCGAGAGAAGGAAAGGAAG AGAACAGAAAAAGATGAAGAGGAAGGGGTGAACCAGTAAAAGGGCAGAAA ATCAAGCACTCTTAAAACAAGGCCTTTTCCTAGGACATACCAATTCTGGG CAAAGAGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGCGAGCGTGTGT GTGTGTTTCATGTCCAAGCTCAAACGTGTGTGTGTGTGTGTTTCACGTCC AAGCTGAAACATTTTCAGAAGTGGGAGCCCAGAAACTAAGAAAAGAATAA GAAACTAAAGTATAGGGAATTCACAAAAATTGGAAATATCAGGCTGGAAG GTAGGGAAGAGAATGGACTCTGACAGTCAGTACAATTAGGAGTTTGAGGC TAAAACTATGGAAAAATAAGGAAGCCCTAGTTGGCATCTAGATTTTGTGT GTAATACTAGTATTTTCTGGTAGATCAATCCTGTGAATTATAAATCTAAC CAGATACTAACCGGAAGTTAAAGTCCACTTCATCTATCTGAAATATCATC TCAATTCCCCAAAAGCCACGCTAATACTTGGCAAAACCCAAATGAGGCCA GCAGGATGCTTCTTTAAGAATTAATTAGCTGAGCGTGATGGCAGGCCCCG TAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAAATCACTTGAACCCAG GAGGCAGAGGTTACAGTAAGCCAAAATTGTGCCACTGCATTCCAGCCTGG GCAACATAGCGAGACTCTGTCTCCAAAAAAACAAAGCAGCCGGGTGCAGT GGCTCACACCTGTAATCCCAGCACTTTGGAGGCCAAGGCAGGTGAATCAC GAGGTCAGGTGAATTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTC TATACTAAACATACAAAAAATTAGCTGGGCGTGGTGACGGGCGCCTGCAA TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATTTGAACCCGGGAGG TGGAGCAGTGAGCCGAGATCCAGCCACTGTACTCTAGCCCAGGCGACAGT ACGAGACTCCGTCCCGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTCGGGAGGCCGAGGTGGATGGATCACAAGGTCAGGAGATCGAGACCAC CCTGGTTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGC TAGGCATGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGC AGCAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCTGTCTCAAAAAA AAAAAAGACGCCATCTCAAAAAAAAGAATGTCTAGAAATGTGATCTCTAC TCCTGTTTGTAAAGAGTTACCCCCATCCCCAGCCTTTTTTACAGAACTCA ACAGATGCAAATGTACTTAAAAGGAGAATGTCAGGCAGTCTAGCAGAAAA CATAAATATAAGTTGGGAGTGGGGAGAAGATCCATTACCAGAAAGAGACA ATCCATCAAGGTTCCTGCAGGAGCTGCCTCTCTCCAGCCAGGGCCCAAGA GGTGGCAATGAGTACCTTCACAGGCAACAAAGTCCTGAGCAGGAGGTCCC TGCTGATGGAGTCCTTTGCTAGTAACTCTGCCCACCCCAGAATTAAGGCA ATCAGACAGATTATCTTTCTGTTCCCTAGTCCACCAGTCTGTCCCCCAAG GGCCCAGGCAGATACCCTAATCTGGAAACCCTTGCATCTGGATCTACTAC AGGCTAGGCTCTTTAAACAGGGAAGAGGAAAAGAGTCTTTCTTTCCCTGG CCTTTTTTTTTTTTTTAGTGAAGTCTTGCTCTGTCACCCAGGCTGCAGTG CAGTGGCGCAATCTCTGCTCACCACAACCTCCCCGTCCCGGGTTCAAGTG ACTCTCCTGCCTCAGCCTCCCGAGTAGCGGGGACTATAGGCATGTGCCAC GACACCCAGCTAACTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0323 a0002c0004t0001g0323	1	352	0.0028	-4245	c.22+ others(15): Show c.22+2387_22+6631del	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
COL26A1_chr7_101357875_101564024	101357970	CAATTTTT others(4230): Show CAATTTTTGTATTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTATT GATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGA CAATAGTGGAGGGAAGGTTGGCAGATAAACAAGTGAACAAAGGTCTCTGG TTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGG GTACTTGAGATTAGGGAGTGGTGATGATTCTTAACGAGCATGCTGCCTTC AAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAAC CCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGG TCACAGATCAACAGGATCCCAAGGCAGAAGAATTTATCTTAGTACAGAAC AAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACC ATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAA AACCGCCATTGTCATCCCGGCCCGTTCTCAATGAGCTGTTGGGTACACCT CCCAGACGAGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGCGCCCCTC ACCTCCCGGACAGGGCGGCTGGCCGGGCTGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGG GCGGGGGGCTGAGCCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCTGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCACCTCCCT CCAGACGGGGCGGCTGGACCGGGCGGCTGACCCCCCACCTCCTCCCGACG TGGCTGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTAGCCGGGCGGTGAC CGCCCCCACCTCCCTCCCGGATGGGCTGACCCCCCCACCTCCCTCCGGAC GGGGCGGCTGGCCGGGCCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCTG CCGGGCAGAGGGACTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAG GGGCTCCTCACTTCTCAGATGGGGCGGATGCTGGGCGGAGGGTCTCCTCA CTTCTCAGACGGGGCGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGG GTCGCCGCCGGGTAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGC AGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCC TCACTTCCCAGATGGGATGGCTGCCGGGAAGAGGCGCTCCTCACTTCCTA GATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAG CCAGGCAGAGGGGCTCCTCACGTCCCAGACGATGGGCAGCCAGGCAGAGA CGCTCCTTACTTCCCAGACGGGGTGGTGGCCGGGCAGAGGCTGCAATCTT GGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGATGGAGGTTGTAGCGA GCTGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGT GAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCAAGGCTGGCG GATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAAC CCCGTCTCCACCAAAAAAGTATGAAAACCAGTCAGGCGTGGTGGCGCGCG CCTGCAATTGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGA GGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCAGCA TCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGAGAGGAGAGGG GAGAGGGGAGAGGGGAGAGGGAGAGGCAGAGGCAGAGGCAGTACAGTCCA GCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGA CCGAGAGGGAGAGGGGAGAGGGGAGAGGGAGAGGCAGAGGCAGAGGCAGG GGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGCTAGTTATCCAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTC TCGAGCTCCTGACCTTGTGATTTACCTGCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCATGCTTGGCCATCTTCCTGTCGTCTTCTAA CAACAATCCTACAATCCTTCTTTGAGGGGAGAAGGACAGGCTCAGTATGT AACCCAGGCTGAAGTGTCATGGCACCATCATGGCTCACTGCAGCCTTGAA CCCTTAGGCTCAAGCAATCCTCCTGCCTCAGACTCCTGAGTAGCTGGGAC TACAGGCACACACCTCCACGCTTTGCTTTTTTTTTTTTTTTGTAGAGATG GGGGGGTCTCACTATGTTGTCCAAGCTGGCCTCGAACTCCTGGCCTTAAG CAATCCTCCCGCCTCAGCCTCCCAAAGCATTAGGTCTTTGTTGTTTTGTT TTTTGAGACGGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGCATG ATCTCAGCTCACTGCAACCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAAGTGCATGCCACTACGCCCAGCTAATTTTT TCTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTCT TGAACTCCTGACCTCAAGTAATCTGCCCACCTCAACTTCCCAAAGTGCTG GGATTACAGGCGTGAGCTACTGTGCCCGGCTTCCAAAGGATTAGGATTAC TGAAGTGAGCCATTGCCACTGGCCTCTACAATCCTTTTGCAAAATGTGCT CCAGTCCAGCAAACACTTCCATATTTGATGGTTTTTCTCCATCCTGTAGG CATTTTACAGACAGGAGTTTTCAACTGGTCACAGGGGCAGAGCAAGCCTC AGGGCATCTGCACCCTTAGGTTGCTTTTGGAAGAATTAGGAAAAAAGCTC CCAGGCCGGGCTAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC GGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAA CATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCCGAAATGG TATTGCTTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATC ACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGC ACTCCAGCCTGGGTGACAGAGCGAGACTCCAACTCAAAAAAAAAAAAAAA AGAAAAAGAAAAAAAAAAAAAGGAACAAAATGCTCCTAACCCGGGCGAGT AGAGTACGGGCTGGATTTCTGGTCCCACCTGGGCCTGGAGCAGGGTCCAA GCCCTATGGGAATCCTGCAACATAGAAAAGACCAAAACTTGGGTCCAGGC TGGCCTTGGGCCCAGCATGGGATCTAGGACTCTGCTTTTCTGTTTATAAA AGGTGGGATTGTCCTACATCTTCCTGAAGCCCTTTTCTGGATAGGATGTC TCATGAATCTGTGATTCTAGCTACAACTTTTTTCTTTTTTTGAGATGGAG CCTCACCTTGTCATCCAGGCTGGAGGCCAGTGGCCTGATATTGGCTCACT GCACCCTCCGCCTCCTGAGTTCAAGTGATTGGCTTGCCTCAGCCCAGCCT GTAGTTGAGATTACAGGCACCTGCCACCACACTAGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01261.hp2 HG01109.hp1 HG01167.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0014 a0001c0005t0002 a0001c0008t0007 a0001c0001t0014 a0001c0005t0002 a0001c0008t0007	a0001c0001t0014g0109 a0001c0005t0002g0128 a0001c0008t0007g0129 a0001c0001t0014g0109 a0001c0005t0002g0128 a0001c0008t0007g0129	3	172	0.0174	-4237	c.-50 others(10): Show c.-5062_-826del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		4904		chr7	TogoVar
GFUS_chr8_143607618_143622549	143618314	TAAAAGCA others(4228): Show TAAAAGCAGTCACGGCCATGCGCGGTGGCTCAGGCCTGTGATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCA GCCTGGCAAAACATGGTGAAATCCGGTATCTAATAAAAATGAAAAATTAG TCGGGGGTAGTTGCGCGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATCGCTTGACCCCAGGAGGCAGAGGTTGCAGTGAGCCCAGGTG GCGCCACCGCACCCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAATA AATAAAATAAAAACAGTCACTCAGGCTGACAAGGGTAAGGGAAATGTGGT CCGCCCCCACCACCTTAACATCTTGCTATGAAAGGACGTTTCATGATGAT AACGTTTAAAGACATCCGTAAGGCGATGGCTTTTATCTGACTGGAAGTTA GCAAAACATTAGAGATGACTGAAGTGAGTCGCTGCTGGGTATGTCCACCT GCTCTGGTGATGGGCAGGCAGCGTTGCTTAATAAAGATTTCACAATTTTA GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCTGTCTCTACTAAAAAAAAACAAAAAAATTAGCCCGGCATGGT GGGGGGCGCCCGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CCTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGACT TCACAGTTTCTAAATTGTTATATATTTCTTCCATAAAAATTTAGTTTTCT TCATTTCAGCAGTTACTAATTATGATATTAAAGTCACATAATTTGTATTC TGTTGACCATAGTGTCGAACTACACAATCTTTCTTAAGTCATTGTACTTC TTTTTTGTTTTCAGAGATGGAGTCTTGCTGTGTTGCCCAGGCTGGTCTCA AATTCCTGTCCTGATCACTCAAATTCAAGCATTCCTCCTGCCTTGGCCTC CCAAACCTCTGAGATTACAGGCATGAGCCATTGCACTCGGCTTGTACTCT TCTTTTTAAAAATTGGTTCGGCTGGGTGTGGTGGCTCACACCTGTAATCC CAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTCG AGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAA ATTAGCTGGGTGTGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGCTTGAACTAGGGAGGCAGAGGTGACTGCGCTGAG ATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAAAGATTCAATTTGGAGACTTTTTTCTGTTGAGGCAGT AGAAACTGAAATTATCAAAGAAATCCAAAATTTCTTTTTTTGTTTTTTTT GAGATGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTACAGTGGTGTGATCT CGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCATGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTCTTAGCCAGGATGGTC TCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCACGCCTGGCCTCCATTTCTTAGATTCAGAA ATTAGTCGTGGATTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTG CCCAGGCTGCAGTGCAGTGGCGTGATCTTGGCTCACTGTAACCTCCGCCT CCCAGGTTCAAGCGATTCTCGTGCCTCAGCTTCCCTGAGTAGATGGGATT ACAGGCGCCCGCCACTACACTTGGCTAATTTTTGTATTTTTATTAGAGAC AGGGTTTCGCCATGTTGGCCAGGCTGGTTTTGAACTCCTGATCTCGGGTG ATCCGCTTGCTTCAGCCTCCGAAAGTGTTGGGATTACAGGTGTGAACCAC TGCACCCAGCCAGTCATGGATTTTTATATATAATGTTTAATTTCACTTTA TAATCACCACCTTTATAGAGCGCTGCTCACCATCTGTCTTAGTCTGTTCA GGTCTCTGAAGCACAGAGTGGATGGCTGTAAACAACAGAAATTTATTTCT CACAGATCTGGAGGTTGGGAAGTGCAGGAACCAGGTGCTGGCAGATTCCG TGTCTGGTGTGGCCACTTCCTGGTTCAAGATGGCATCTGTGTCCTCGCCT GCTGGAAAGGGCCAGGAGCCTTTCTCTAGCCTCCTTTATGAGAGCAGTCA TCCCATCCCAAAGTCCTCACCTCCTCATACCATCACCTTCGGGGTTAGGA TTTCAACAGATAACAAATATTCAGGCCATAGATAGCGCCGTGTCTTACAG CAACAGTCTTTCTCATGCTCCTTCAGGCTTCCCAGTGCTGGAGTATTGTA AACAAAAAGAAAAAGAGCAGGAAGATAGTCTGTCTGTTCACATCTCTCTT TGATTGGCCCTATACCTTAATCTCTAACAGTCAGAAAATCCTTTATGCTA AAATTACCTTAGGATTATTTATGTGAGAATTTTCTCCTTCATAGTCATAC AAACATTTTTGTGCCAATTTCCCCTATTTTATTGGTATGCCACTCTTGTG TATTTCATGTGCAGCTTTTTCAATTTAGAAAAATATTTTCTCTAAAATTA AAGAAATGTGTTTTAAAATCCTTTCGAAAGTGAATTTGTCAGTCTTTCTG CTTGGGTTTTGGTGAGCTTTCTCTAACATTATTAATGACCTACAGTTCAT ATCAAATAGCTGTGGCAGTGAACATTCAAAATTAATTTTGTTTCCCATGA AAGACAATTAGGTATTCATCTGGGTATCCTACACCATTTCCCTTCTCTCT CAGAGCTTCTCAAATCCTGTCTACATCGTATCTGATGCTTTTGACATGTC ACTATTCCTATTCTGTGTCCAAGCAGGGAAGGGTTCAAGGTCAAAACGGA TCCAGATTTCTTCAAGATGTTCCATCTTTGGGCGAACTTAAGAAATATTG GGCCGGGCGCGGTGGCTCATGCCTACAATCCCAGCATCTTTGGGAGGCTA AAGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAAGCTGTAGTGAGCTGTG ATTGTGCCACGGCACTCTAGCCTGGGGACGGAGTGAGAACTTTTCTCTTA AGAAAAAGAAGAGATAATAATAGCATTTGTAATTTTGAATTGTTTTAAGG CAGCGGTCCACAGCCTTTTTGGCACCGGGGATTGGTTTTGTGGAAGACAA TTTTTCCATGGACCAGGGCGGGGGTGGTTTCAGGACGAAACTGTTCCACC TCAGATCCTCAGGCATTGGATTCTCATAAGGAGCGCACAACCTAGATCCC TTGTCTGCACAGTTCACAATAGGGTTGGTGCTCCGATGAGAATCTGATGC CACACTGATACCAGAGGAGGGAGAGTTCAAGCTGAAATGCTCACTCGCCT GGCCTCACCTCCTGCTATGTGGCCCAGTTCCTAACAGGCCACAGACCGGA ACTGGTCCATAGCCTGGGGGTTGGGGATCCCTCTTATAAGGAATATCACT GGTCTCAGATGTGCAGTTGAATCCACATCTCTTAGTAACAAATTAAAACA ATGTACCAGGCCAGTAATTCACGCCTGTAATCACAGTGCTTTGCGAGGTG GAGGTATCACCCTTGAGGCCAGAAGTTTGAGACAAGCCTGGCCAACATAG TGAGACCCCGTCTCTACAAAAAATAAAAAATTAGCCAGAGGCCAGGCACG GTGGCTAACCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCAGAT CACCTGAGGTCAGGGGTTCGAGACCATCCTGGCCAACATGGTAAAACCCT GTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGCATGGTGAGGGGCG CCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACC CGGGAGGTAGAGGTTGCAGTGAGCTGAGGTTGTGCCACTGCACTCCAGCA GGGGCAACAGAGTGGGACTCCGTTTCAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp1 others(145): Show HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0004g0010 a0001c0001t0006g0026 a0001c0001t0008g0034 a0001c0001t0010g0048	148	414	0.3575	-4235	c.-50 others(10): Show c.-5087_-853del	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		766		chr8	TogoVar
HECW1_chr7_43107647_43571001	43340222	ACCCCTTT others(4228): Show ACCCCTTTTTTTTTTCTAAGACGGAGTATCGCTCTGTCGCCCAGGCTAGA GTACAGCAGAGCAGTCTCAGCTCACTGCAACCGCTGCCTCCCGGGTTCAA GCAATTCTCCTGCTTCAGCCTCCAGAGTAGCTGGGATTACAGTCGCCAGC CATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTTCACCA TATTGGCTAGGCTGGTCTCACACTCCTGACCTCAGGTGATCCACCCACCT CAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCT CTAATTACCTTTGAACTGTGCAAGCAATAGCCCCAGGGATCAAAAACTCT GTCTGGGGGTGGTGACAGTAATCAACACTGAAATGAAAACAAAATGCATT TTTTGATTGTTTTTGAATTTAGAATTGGCCCCCTGACACGTGAAGTAAGT ATTTCCCCTAAATTAAAGCTACAGTGTCGTCTGTTGGTGGGAGTGTAAAC TAGTTCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAAGGATCTAGAA CTAGAAATACCATTTGATCCCCTGATCCCATTACTGGGTATATACCCAAA GGATTATAAATCATGCTACTATAAAGACACATGCACACGTATGTTTATTG TGGCAATACTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCA ATGATAGAGTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTA TGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACTTGGATGA AGCTGGAAAACATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAA CACTGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACTTGG ACACAGGGCAGGGAATATCACACCCCAGGGTCTGTCATAGGGTTGGGGGG CAGGGGGAGGGATAGCATTAGGTGAAATATCTAATGTAAATGATGAGTTG ATGGGTGCAGCAAACTAACATTGCACATGTATAACTATGTAACAAACCTG CACATTGTGCACATGTACCCTAGAACTTACAGTATTATAAATAAATAAAT AAATAAATAAATAAATAAATAAATAAATAGTTACAGTGTCATTTTACATA TTGGTTCGTTTTGGTCACTTTTGCTATGCTATCGTATTTAAAGACATTAA CATGGGATTTATTCTTCTAAATAACAAATTAGTCAAGTAATATACAGTTA CTCATGTAAAAAATATATATCAGCTATCACAATTACTTCAAAAAGAAGTT GCAATTAACCATTTTTCATTCACATAACCAGACAGCTCAGAATTTAGCTA TTAGAGAAGCATGAGTTTATCACGTGGCAATTTGTATAAGTTAGGCAAAT GTGAAATTCTTAAAAATACAAACATCTACTGTTTATTAAACATTTATGAC TTTTCCAGTTATTTTAAAATTAATTTAATTTTAGTTTAGTTTTAGTTAAT ATAACCAGTCCGTAATACAGCATTCTAAATCATGATGACTTTTGGAAGTA CAAATCCAAGTTAGATGATACCTGTATCAAATTATAAAATTTTGACTGTC AATATGACATTCTGTAATACAATAAGATTTTTTCTGTTAGAGCCATATAT TACTTTAATGATAATTTTACTACAAAAATATCATTTGAGTAGCAAAAATA TCATGACTTTCAGGGCTGTTTATAGTAGAGCAAGGGTTTGTTGTTGTTTT GGTGCAATTTAATATGGCTTTAAAAATTATGTAATTTTATCCCTTTGAAT GAGTTCTTAGATACAAGTTGCTAAAATTAAATGCAGCAGGACAAGTATGT ATAAAAGATGACTGTTTCATTCTGGTGTTGGTTAAAAACCAGACTCACGC CTGAAAAGCTTTAACATTTTACCTTAAGGAGATTCAACAGGTAATATCAG TTTTTAAATTAACATAAATTTTCCAGTGTTTACTATGAATATTTACACTT AGAGTGGAATCATCAATGTTAGATGCCTCGTCAATGAACATTATTTCCAT TTATCCTCATTTATTTGGAAACCCTTCACCCTTCCTTTGTTTTGATCAAA AGTCACAGCCTTTCTCTAAGCTGCTTATTTCTTAAAATCCATTTAATTCA TAAAAAGAAATACAAATGGATATACTGCCATATAGGATAGACTGGCAGGA CTCAAGGTTTTATACAATTAATGTTGATTATTTCTCTAAAAGTACTGCTC TTATTGTTTCCTCTTGCTGAAACTAAACACTCTTCAGACTCAATTTATAT CACATTATTCTACTGTTACTTAATCTTTTTGAGCATCTGAAGACATTGTA CTTTCCATTCCTCCTTCTAGATAACTCTTGAGGCTAACTCTTACAGAGTA ATTATAGCTTTTTTGGTTAAAATTGCTTTTCTTGGGGTTTGAGGATATAG TCTCACATCTATTTTGTAAATGACATATTAGCAGATTTAAGTTCATTATT CTTAAGAATGTTTATACATAGAGGCCGGGCATGGTGGCTCACGCCTGTAA TCCTGGCACTTTGGGAGGCGCAGGCAGGCAGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACAGGGAAACCCTGTCTCTACTAAAGATACAA AAAAATCAGCTGGTCGTAGTGGCAGGCATCTGTAGTCCCAGCTACTCAGG AGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTGGCAGTGA GCCAAGATGCACCACTGCACTCCAGCGTGGGAGACAGAGCAAGACTCCAT CTCAAAAGAAAAAAAAAAATGTTTCTACGTAGATAATTTGATCCTTTCTG CAAAATAAGTGACTTCACAATGGAAGGCTGTGCTGATCTATCTCTGTCTA ATTCATCAACTCTGATTATACTCTGGTTCATAAGATCTCAGTGTTTTTGC ATTGCAGATATTGTAACACCTGAGTAGCTAAAAACTTGCCATGATGTTCA GATATTCACGGTGCTGGCAAACTGCAATGTCTGGGCAACAGTATTCTTTT TTTTTTTTTTAATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGC AGGTTTGTTACATAGGTGTACATGTGCCATGATGGTTTGCTGCACCCATC AACTCGTCATTTACATTAGGTATTTCTCCTAATGCTATCCCTCACCCTGC CCCCCAACCCTATGACAGACGTGTGTGATATTCCCTGCCCTGTGTCCAAG TGTTCTCATTGTTCAATTCCCACCTACGAGTGAGAACATGCAGTGTTTGG TTTTCTGTCCTTGCAATAGTTTGCTGAGAATGATGTTTTCCAGCTTCATC CATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCACTCTATCATTGATG GACATTTGGGTTGGTTTCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AAAATACGTGTGCATGTGTCTTTATAGTAGCATGATTTATAATCCTTTGG GTATATACCCAGTAATGGGGTCAAATGGTATTTCTAGTTCTAGATCCTTG AGGAATCCCACACTGTCTCCACAATGGTTGAATTAGTTTACACTCCCACC AACAGTGTAAAAGCGTTCCTATTTCTCCACATCCTCTCCAGCATCTGTTG TTTCCTGACCTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTGTCT CATTGTGGTTTTGATTTGCATTTCTCTGATGACCAGTGATGAAGAGCATT TCTTCGTGTGTCTGTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTG TTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTGGTTTTTTTCTTGT AAATTTGTTTAAGTTCTTGGTAGATTCTGGATATTAGCCCTTTGTCAGAT GGGTAGATTGCAGAACTTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCT GATGGTAGTTTCTTTTGCTGTGCAGAATCTCTTTAGTTTAATTAGATCCC ATTTGCCTATTTTGGCTTTTCTTGCCATTGCTTTTGGTGTTTTAGTCATG AAGTCCTCTGGACAACAGTATTCTTAAAGCATATTTTTATGTTGACAGAT ATCTCCTTTCAGCACTTTGAAGTTCTCATTCCCTTGTCTTCCATTGTTTC TGTTTGTGTTAAGAAGTCGTCTGTCAATATGACTCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0010	a0003c0008t0010g0003 a0003c0008t0010g0003	1	180	0.0056	-4235	c.460 others(19): Show c.460+19481_461-16429del	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29			chr7	TogoVar
PDE9A_chr21_42648621_42780509	42715445	GGTGAAAC others(4228): Show GGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTCATGG CGCACACCTGTAATGCCAACTACTTGGCAGGGGAATCGCTTGAATCCGGA AGGCGGAGGTTGCAGTGAGCTGAGATTGCATCACTGCACTCCAGCCTGGG CGACAGAGAGAGACTCTGTCTCCAGACAAAAGAAAAAAAAAAGACTGTAC ATTGGTTACAATCAGTGAACCAACATTGACATATCCTTATCAGCCAAAGT CTATATTCCACCTCAGAATTCACTCTCAGGGCTGTACATTCCCTGGGTTT GGACAAATATATGATGACCTGTGTGTCCCATCCCAGTCTCAGACAGAATC GGTTCTCTCAGGGCTGTACATTCCCTGGGTTTGGACAAATATATGATGAC CTGTGTGTCCCATCCCAGTCTCAGACAGAATCGGTTCACTGCCTTCAAAA CCCCCTGTGCGCCACCTATTCATCCCTCCCGCCCCAAGCCCCAGATCTTT TTACTGTCTCCATAGTTTGGCCTTTTCCAGAATGTCACATAGTTGGAGTC ATACAGAATAAAGCCTCTTCAGGTTTTCTTTCACTTACTAATATGTCTTT AAGATTCTTTTATGCCTTTTCCCGGCATCTTAGCATTGAAGCATATTCCA TGGTCTGTATGTATCACAGTTTATTTGCCCACTCACCTATTGAAGAGCAT CTTGGTTGCTTCCAGGTTTGGGCAGTTATGAATAAAGCTGCCATAAATAT TTGTGCACAAGTTTTTGTGTGCACATAAGATTTTAACACATTTGGATAAA TACCAAGAAGCACAATTGCTGGATCTTTTGGTAACAGCATGTTTAGTTTT GTAAGAAGCTGCCAAACGGTCTTCCAAAGTGACTGGGCCATTTTGCATTC CCAGCAGCAATGAACGAGCATTCCTGCCGCTCCACATCCTCCCCAGCTTT TGTGTTTCAGTGTCTTGGATTTTCACCACTCTGATAGGTGTATTGCAGTA TCTTCTTCTTGTTTTATTTTGCAATTCCCTAGTGACATATCATGATAAGC ATCTTCTCATATGCCTGCTTGCCATCTGCATGTCTTCTTTGAGGTGTCTG TTCATATCTTTTGGCCACTTTTAATCATCCTGAACTTTTCACAATCTATT TAGAATTAATACTGTACCGCCTCACATAAAAAATAAGGACACTGCAGCTA TATAAGTCTACTTACTCCCCTCTCCCACCACCTTTGAGTTATTGTGTCAT ATGTTTTATATCTGCATACATTTTAAGCCCCATAATACAATATTATAATT TCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTCTTGCCCA GGCTGGAGTGCAGTAGTGAGATCTCAGCTCACTGCAACCTCCACCTCCTA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGA TGTGTGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCATCATCTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCC ACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGATTATAGGCC ACTGTGCCTGGCCTATAATTTCTTATTTAAACAGCTAGTTGTTTTCTGAA GAAATTATGAAAATAAACTTCCAGATAGTTTTTTAATAGTTGCCTATATA TTTGCCATTTCTGATGTTTTTATTTCTTCTCAACTTCCAACTTATATTAT ATCCCTTCACTCTAAAGCATTTCTTTTTTCTTTTAATGTTTCTTGCAGTG CATATCTGCTAGTAACTAATTCTCTCAGCTTTTGCTGATTGGAACATGCC TTTTTTTTTTTTTTTTTTTTTTGAAATGATGTCTTGCTCTGTCGCCCAGG TTGGAGTGTACAATCAGTTCACTGCAACCTCCGCCTCCTAGGTTCAAGCA ATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGATTACAGGCGCCCACCAC CATGCCCACCCAGGCACTCCACCCAGGAGGTGGAGGTTGCAGTGAACTGA GATCTCACTACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCATCTCA AAAAAAAAAAAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATG TTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGTGCCCAGGCAAG GAACATGCCTTTATTTTGCCTTCATTGTGAAGGATGAGTTTTCATGGTGT GGAATTCTGCATTCACAGTTTGTTTTCTTCAAGAAGCTTAAAGATGTTGA CTCACTTTCTTTCTGGCCTCCATTGTTTCTGATGAGAAGTCAGCTTAATT TGATCATTATTCCTCTGTATGAAGTGTGTCTTTCTTCTCTGGCTGCTTTC TTTGGGGTTTGTTTGTTTGTTTGTTTGTTTTGTTTTGTTTTTGAGATGAA GTTTTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCA CTGCAACCTCCGCCTCCTGATTCTCCTGCCTCAGCCTCCAAGTAGCTGGG ATTGCAGGTGCCCGCCACCACGCCCAACTAATTTTTAGTAGAGACAGGAT TTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCA CCCACCTCGGGCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGTGC CCAGGCCTCTGGCTGTTTTCAAGCTGTTGATTTCTTTCCTTTATCTTTAG GTTTCAGCAGTTGGACTATGATGTGCTTCAGTCTCATTTTCTTCTTATTT ATCCTTCTTCATGTTCATTGAGCTTCCATGGACTATGAATTTACCTTTTC AGCAAATTTGCAAAATTGTCAGCCATTACGTGTTATATGTGCCATTCTTT CTCACTAATGACCTGTATGTTAGAAAGTTTGCTGTTGTCTTTCAAGTGAC TGCAGCTTTGCGGTTTTTTATAATCTTTTTTTTCTTTGCCCTTCAAATTG GGTAATTTCTGTTGACCTGTCCTTGATTTCCCTGACTCTTCCACTGACTC CAGACTTCTGTAAGTTGATCCATGAAGTTTTTTTTTGTTTAGGATATTAT ATTTTAAAATTCTAAAATTTGCACTTGACTCTTGTTCATAGATTTGTCTC TCGAGACTCCCCTCTGTTTACGATTTACTGACGCCGCTTTTGTTTCGGTG TTTGCACGTACCTGCAATTGCTGCATTAAAGTCTCGTTTGCTCATTTTGG CATCTGAGCCGGCAAGCGTCCAGGGTGTCTGAGGGATGATTTTCTCTTGG CCATGGGTCACATTTTCCTATTTCTTTGCATGTCTATTTTTTATTGTAGA CTAAGATTATGAATAACACCTAGGAGAGACATTGGATTTTGTTATCATCC TCTGAAGAGTGTTAATTTTGCTCCAGCAGTCAGTTCCGTTACTCACTGAT CATCTGAACTTCGTGCAGCCTGGTTTTATGCTTTGTTGGGGTAGATCTCT AGACTGACCCTTCTGTGGTTTTAGTAGGAAGCCTGAGGTATTTATCAAGC CTCTCTAACTCGACTACATTTAAACTCCAAACTTTGTCTCCTCCACAGCA GGAGCTGAAACCTCTGCCACACTAGGCCCACAAACATGCGTCATTCAGGG ATCCACCAAGGAACAGGGTAGTTTATACAGAATTTGGGTCCCACTGCCAT GGCTTCCTCCTTTGGGAACTCTCCTTTCCATTTCCATCCTCTCTGACAAC CTAAAACTGTGTCATCTGACGCTTCAACCTGGAACTTTCTGCTTAAGTTT TAGCCATCTACATTATAAGGGCACTTTATAGCAAGAAATAGAATATTATT CCATTCTAGGCCAAGTACAGTGGCTCACACCTGACATCTCAGCACTTTGG GAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTTGAAACCAGCCTG GCCAACATGGTGAAATCCTGTCTCTTCTAAAAAAAATTTTGAAAAAATTA GCCGGGTGTGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGCTGAGG CAGGAGAATCCCTTGAACCTGGGAGCCAGAGGTTGCAGTGAGCCGAGATG GCGCCACTGCCCTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGAAATATTCCTTCGTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	322	0.0031	-4235	c.263 others(19): Show c.263-16324_263-12090del	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19			chr21	TogoVar
TFEC_chr7_115930152_116035763	115943510	ACACAATG others(4228): Show ACACAATGAGCCTCCCTTCAATTTGTACCTGATGTCACTTACAATAATTT TTTTAAGTTCCTCTATTTTAAAGAAATTTTAATGTACTAGATTCTTTCCT ATTTATTTTTTATATTTACTAAAGAGACTTTTGCCTCTCTCCCAAAACAA TTTCAACAAAGTAGGCATTACAAATATTATATAGGGTGGTACCATATAAA CACAGACACACCAATAAAGGCATGGCTAAAGAATGAATGTTGATAGTTGA TGCTGGCCCTTCATTTTCTGCACAACAATTTTTTAAGATCTTAAAATGTT GGTGGATTAAAAGCCTGAATGCATTTACAGTCAGAGCAGATAATACAAAT GTATAAATTGGAGTAAGGAGTGCTGCCAGGCAAAACTATGGAAAATGTAC AATCTGTTGTTATCTTAGGGGTGTACATCCACTTAAAAGCATTAAAAAAT AATTTTAAAAAAAGATTTTAAAAAGAAAGAAAATAATACTATGACAGGTC TGAATTTTTTTTTTTTTTTTTTTTTTTTTTTGCTTCAACATTTTGTGACT CCTGACTTAGAAAGTTTTGTCAGGTCTCGTATTCTACACCAACTATCATT CTTACACAAAAGCAGGAGGAATTTGGTTGTAGAGGAGAGTAAAGATTAAG TAAAAAAACTTCAAACTATTTAGAAAACTTTTTACAGTGCAAAAACAAGA GTAATAGAGTAATTAAAGATCTAATAATACTTTTAACTTTCTACTCATGT AATTTTTGTAAACATGGCTCACAAAAACACATATGGACAAAAGTGTTTCC AAGAAAGCTAAAGAGGACAACTACTACATGTTGTAGAAGCTCTTCACTCT TTCTCTTTGATTGTTATTTTTGTTTGGGTTTTGTTTTGTTAACACCGGTC AAGAGATTGTCATTGCCTGGTCATGTTTTTTTCATGTAATTTTCTCAACC TGTACGTCTCAATTACAGCTGTTCTCTATATTACTTTTCCTTCTGACCTC ACCATTTTGACCTGCAAAGAAATAGAACTTTCTGAATATTTTGATACATA GAAATAAAAACTTCATAGAATTCAAAGTGTCTTCAGGTATTAGCTTTTAT TTCCTAAGCCAACTCCAAAATATATTCCAATCATGAGCTGGAAAGGTACT CAAAGGCCAACCATGCCACAATTGCTGCTATATGCCCAAGAGTATATGGT GTTTAGGAGATAAGCCCCAGGTTTCCTCTCTCAATTCAGTACTCTTTCTG CCAACCTGTGGCTTTCCCACCTTTCAAATGCATCTGTCATAAGAAATACG CTTTATATAGTGACTTGGCACACTCTTAGTAAATAAAACTGCAACAAAGA TTTCACAGGGCTTTCCTATTCTCTTTACATGTAATACTCTCATATTTTCA ATGCTATTCTTCCTTTTTTGTTTAAAATGCTGCATTTGTCTCATTTGAGT GATTCCATGACTCGTTAATAGATATGGCACATAATTTAAAATATCTCATA CTAGATAATTGTATAGTCTGATATACTTTTTATTTTTTAAAAACTGTTCT TAGTCATTTTAATGGTTGTAGTCACCTGTTCAACAAGTTATTCAAAAATT TGCTAAACTCAAACTAAAATCTTGTATGGTCTTTTTTTTTTTTCAGATCC ACTGTTTGTTAATTTCCTCATTGTCATAACATAATAATGTCATTTCTTCT TTTATTTTCTCACCCTCAAAGTAAATTTGCCTCCTCTATGCTACCCTTCC CTTTTTCCAGCATTCTTGTTTCCTGTGACTTTTAGATTATCCCTAATAAC ATTTGAAAATTTGACAAATGGATCCAGAATAATTTTGTCACGTAGATGGG TACTCCTTAGTCCATGGAGCCAGACCATGGTTCTCAGGTAGAGTCATTTT AAGAGGATACACTCTGGATTCAATCATGGGACCCTCATTGCTAAACCCTA AAGAGGGACACTGGAGTAACAGGTGAGGCCACAGCAAGCCAAGGAATAAA ATGTATTTAAACAGAATTAGTACTGAGATTTTTGGAATGTCACACATTTC AGTGAAGTGTCTTCTCTACCTGTGATATACGGAAAAATCCACGTATAGAC ATATTCAACATCTAATTAATGTGTTTTCCATTAGACCCCAAATAAATGTT ATTTGCCTACATACAACACAATAGAAATAAAACAAATAATAACCCTCCTT TCTGAGATTCATAAGGAAGAGAAAAACAATGCTTGCAATGCAGTTTTCCC AATTCTGGTCTATCATAAATTGAATTTTCATATTCTAGACCAAGGGTAGA CAAACTACGGCCCATAGCTTATTTTTGTCAATAAATTTCACTGGATGAGG TCAAGCTCATTCATTCCATGTTGTCTGTGTCTGCTTTCATGCTACAATGC CAGAGTTAAATAATTGTGACAAAGACTTTTGTATGGCCTGCAAAGCTTGA AATATTTACTATCTGGCCCTATACAAAAAGTACTTACCATTCTATGTTCT AGAAAATGAATTAGAACTAGAAAGGAGTCTTTAGATAAAGTTTTTATTAA AATTTGGAGTAATAATCTCTCATAAAACTTTATAACTTGCAAACTATTCC CATACACCTTATTTGATTTTATTTTTATAAAAACACAGGCATATAGGGAA GACAAGTGTTTTCTTTAGCTAACAGAGTCACATGTTTAGAGACTTTAAAA GATTTGAAGAGTTTGGAGTAGAGTCTAAATTAGGCCTGAGCTCTTCAGAC CCTAAATGTCTTCACAATCTAGTATGTACATAAGGACAAATATTGCATTC CCTTTTCTAACAAATTGTTGAATTGTCCAAATAAATGAGCAAATTCGGAT TTAGAGAAAAAGTGCTTTAAAATCTCAGAAACATAACGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGTCTTATTCTACCACCCA GGCTGGAATGCAGTGGTGCGATCATGGCTCACTTAAGCCTTGAAATCCTG GGTTCAAGTGATCCTTGTGTCTCAGCCTCCTGAGTAGCTTGGAGTACAGG TGCATGCTACCATATCAAGCTTGCTCTTTCCTTCTTTCTTTCTTTCTTTT TTCTTTCTTTCTTTCTCTCTCTCTCTCTTTATTTTCTTTTTCTTTCTTTC CTTCCTTCCTTCTTTTCTTTTCTTTTTTCTTTTCTCTTCTTTTCTTTTCT TTTCCTTTCTTTTTTTTAGAGGTCGGATCACACCCAGGTTGATCTTGAAC TCCCGGCCTCAAACAATCTTCCTGTTTGGTCCTCCCAAAGTACTGGGATT ACAGGCATGAGACAATGTGCCTGGCCCACAAGTATCACTTTATCAAACAT GATCATTTCCGGATAATGAATAATATCCAGTATTTGGAGAAAAAAGTTCT CAGTTTTTTTTTAAATTTATTATTATTATACTTTAAGTTTTAGGGTACAT GTGCCAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCC CCTTCCTGTGTCCATGTGCTCCCATTGTTCAATTCCCACCTATGAGTGAG AATAGGTGGTGTCTGATTTTTTGTTCTTGTGATAGTTTACTGAGAATGAT GATTTCCAATTTCATCCATGTCCTACAAAGGATGTGAACTCATCATTTTT TATGGCTGCATAGTATTCCATGGTGGATATGTGCCACATTTTCTTAATCC AGTCTATCATTGCTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTG AATAATGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGA TTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATG GTATTTCTAGTTCTAGATCCCTAAGGAATCGCCACACTGACTTCCACAAT GGCTGAACTAGTTTACAGTCCCACCAACAGGGTAAAAGTGTTCCTATTTC TCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA TTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCT CTGATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATA AATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCGTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02165.hp2 HG03704.hp2 others(2): Show HG01099.hp2 HG02165.hp2 HG03704.hp2 NA18951.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0287 a0001c0001t0003g0291 others(2): Show a0001c0001t0003g0273 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0003g0295 a0001c0001t0003g0298	5	392	0.0128	-4235	c.515 others(17): Show c.515+3129_516-1471del	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
N4BP1_chr16_48533726_48615180	48588246	AAGGTAAA others(4226): Show AAGGTAAAAAAAATGGCAGCATGTTCTTTCAATGTCATACTATGTTTTCT TTTTTTTTTTTTTTTGGAGATGAAGTTTCATTCTTGTCGCCCAGGCTGGG GTGCAATGGCAGGATCTTGGCTCATGGCAACCTTCGCCTCTCAGGTTCAA GTGATTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGCACCCGC CACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCT CGACCTCCCAATGTGTTGGGATTGCAGGTGTGAGTCACTGTGCCCAGCCT CAATATCACACTATTCTCTAGCAGGCCCAATCAAGGATTACTTAATACTT TAGGGCAGCACTGTCCAAAAGAACTTCTGCAATGATGGAAATGTCCTACA GCTGTACTATCCAAATTGGTGGCCACTAGTTACATGTGACCACTAGCACT TAATTTCACTGAAGCAATTTAGACAGCCACATGGGGTAGTGGCTACCATA CTGGTTTGTGCAAATCCAGCCCTTGGACCATTTTGTATATACAACCCCTG AGGTAAAAATAGTTTTTACATTTTTAAAGGGCTGTAAAAACCAAAACAAA AAGGAATATAAAACAAAGACTTTGTGGTCCACAAAGTCTACAATATTTAT CATTTGGCTCTTTAGAGAAAAAGTTTGCCAATGTACATCCTAGGAGAATG TATTTTTTTGCTTGACATATTTACATTAAATAACATCCAGAATCTGTGAA ATTACATTATAACTTGTAGATTTTTGTCCAGTATAGATACAGATGATTTC TGTCTGGCATAAAAGACAATCCCAAAGATCATGGTTTCATTATCTTGTAA GACTGTAATACTGTGAAATATGTATTTCCTGGCATACAACTTTTAAAATT TTTAGAATTTGAAAGTGATAGTCTTTTCATATCCTAATGAGTTCAACTAT GACTGGCATCCATAGGTAGTAGCTTCAGGATGGGGTTGGTCAGCAGAGAC CAAAGTAGGATGACAGGGTCTCAACCCTACTTCCAACCTCTCGGGAAGGG AGAGGGGCTGAAGGTTAGTTTGATCATCAGTGCCAATGATTTAATCAATC ACGCCTATGTAATGAGGCTTCCATAAAAACCCAAATGGACTGGCTTTGGA GAGTTTCAGGATAGCTAATACCTATCCTGAAGGGTGTTGTTCCTGGAGAG GGTATGGAAGCTCTAAGCCCTTTCCCTCATACCTTGCCCTATGCATCGCT TCATCTATAACCTTTGTAACAGCCTTTACAATTAACCAGTAAGTGTCTTG CCCAGAGTTCTCTGAGCTGCTTAGCTAATTAACAAAACCCATGGAGTGAG TTGTGAGAAAATCGATTTATAGCCCATCAGTCATAATCACAAAACAACCT GGGAAACTTTTCCCTAGATCCCTACAAGGGTATAGAACCTGCCAAAGGAA TTCACTTTGTAGACTGGTGAAACCACCTTTGCAAAAATTATAACTGAGGA AATTATGACAGTGAAAGAGATCAGACCTAATTGACTCCATCTTGTATCTA ACCTTTGGGCTGTTCTTGTTCATTGCTGGGTGTAGGTCGAAATAACCTTG GGAAGGAATTCAGTTTACGGTTTGACTCTGAAACAAAACTGGTAACAGCC CTTTCTCGGAAAGACCCCCTTCTTGCTTGGGGACCAGTCTGCCTTTGAAG GACTAACAAATTAGCTACAAGATTAGAAATGATGGTTTAGGAGTCATATA GCTTCTGGCTCCAAGAGTCTGAACCTCCCCAAATTGCTCCTGGGGATAAC ATCACTATTGTAAAACCTAAAATTAGTGGTTGAAATATTTTGCAGACTCT GCACTCAATGAATCAGCTGACACCACCCAGATCCATATTCTGGCTCAACC AATTCTGCCATCCCACCCAGGAACAGAAGACAGCAAGAAAACCTCACTTT GACCCCCATGATTCCATCTCCAACCTGACCAATCAGCACTCCCCACTTCC CAAGCCCCTACCTGCCAAATTATCTTTAAAAACTGATCCCTGAACGCTGG GGGAGAGGGTTTTGAGTAATAATAAAACTCTAGTCTCCCACACAGCCAGC TGTGTGTGAATTACTCTTTCTCCACTGCAGTTCCCCTGTCTTGATAAATT GGCTCTGTCTAGGCAGAGGGCAAGGTGAACCTGTTGGTTGGTTACAAATT TGGAGGCTTGTCCAGGATTGCTCTTGTGGCTACCTGCCTGTGGTTTGGTA GCACCCCTCTGGCAATGGATCCAGAGGCCAGCCCAAGCGGCTGCCTAGTT CTCTTGGATTGGTGGCTGACTCTGACACTGTCTCTACCGACAGGGCACTG CCAACCCAATGTGCATGAATTTAATTGCAATGGAGAAACAATCCTGGGCA GATGTCCAATAACTGTTCCCCTATCACAGGGTGTCTGGCTCAGTGAGTAT CCTAGGCGCTGCCACAGCTCCTTCCTTCTCCCAAATGGTTCCATAGCCCC ATGGTGTGGTATGTGTCTGCAGCTCCATCACCGAGTGTCTGTCTTGGTTC GGCTCCTTTGGGGTCTCAGTTGGCTCTCCTTAATTAGTAGGAAGAGTCTT AGTTAGGAAGACTTCTCCTCAATCCAGAAGATTTAGGGGAGATTTCTCAG GCAGAGAATAGGAGGATAGTTTGGAAGGGGTACTCTGAAATTATTGGTTA GGGATCTTGATTTGGAAGCTCTTCTGTCTGTCTTGTCTTTGTGTGTTTCT GTATATGGTGGGGATCTCTGAAGGAACTGCTGACAAAAGTCAAAAATTAT CTTGAGCAATTAAAAGCCTTTGCAAGCTTGAAATTGGCTCCTCTAAGCAC CTTCTGGGAAGAGCAATAGAACCTGCTGAATGTTGTAACTCAGTAGACAA GGCTTTTTGTCTTTTGACAGTGGCAGCCCAGGTTGAATTCTTGGCTTCGG AAATGATTCCTTTCTGGTTTGTTACTTAACTTTCCCACTTTTTGAGGGTC CCACCCCCACCCCAATGGCTAGCTTCCGATTTCCTGTCTTGAATTTTTCT TTCTCCAAACTGCCCTTGGGAAGATTCTAAATCTTGTAAAAAGAAGCTGC TTACCATCTCTTTGAAACACCTTATGGGTCCATGGTTAAGCTGTAACCTT AGCTAAAACTTATTAATTTCACATGGGAAGTTACCTGTGGCAAAGTTCAA AAGCCAGAAATATTGACTGTCCTGGCTAGAGTCTGATAATAAGAGATTTT TAAAAAAAAATTTAAAAAGAGCTCTATGGTTAAAATCAACTTAATTAAAA ATGGATATCCAAGCTCTATTATTTTAAAAGGCCTTGGTTTTTTTTTTTTT TTTCTTCTTGGATATTGGTTGTTTTTGTGAAAAAGTTTTTGTTTTTCTTC TCAGTCAACTGAATTATTTCTCTACTTTGCCCTCCTGATGCCCACATGAG AGAACTTAAGATAATTTCTAACAGCTTCCACTTTGGAAAAAAAAAAAACC TGTTTTCCTCATGGAACCCCAGGAGTTGAAAGTGGATAGATCGCTCTCAA AATCTAAGGCTCTGTTCAGCTTTACATTATGTTACCTGACGTTTTTTTTT TTTTCCAAGTTTTGGGGGTATCAGAAATTACTCTGCATTATGGGAGAGCT GTTAGCCTTGGTGTGCAAAAATTAGGTACAAAATGTACTTTAAGGGATGG CTAATAACAGTTACAGAGGGATACTTGGCTCACTGCACGCTTTAATCAAA GAAGCATGCTCTTGGCCACCTGGAAGGTAAGGAGGAAAAATCCCCACACT CTACTGAGAGATGAGATTCCCATGGGGGATGGGCTAATTACAAAATGGGC TGATTGCCAGGAGGTGGAGGTTGCAATGAGCCAAGGTCACACCACTGCAA TCTAGCCTGGGTGACAGGGCAAGATTCCATCCCCCCAGAACAGAAACAAA AACAAAATCGGCTGACTGGGTTTGGGTTGCCAGGCAATTAAATGCATGGT AAAAGCATTGCACCGTTTTCTCCAACAGCATTTCCCTTTTGAAAATCCAG GATGCAATATAAAAATGGGACCCTTAATTTTGAGAATGTCTTTGCTTTCC AGCTGTGCCTGCTTTTTAGGCCCTAGTAACTGCATGCTTTCCTAGCCTTG TTTCGTGAAGGGCTCTGCCCTGAAGCCAGTAATC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0085 a0001c0001t0021g0085	1	322	0.0031	-4233	c.198 others(19): Show c.198+17296_198+21528del	N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding	1/6			chr16	TogoVar
SLC39A8_chr4_102256666_102350482	102292447	TATTCTGG others(4224): Show TATTCTGGAAGCCCTCATATATATCACTCTTGGCTATAAATTGCTCTTAC ATGAACTAATCCATCTACTTTTGAATCTTCAAAATGATCCCCATTATGTC TTCAAGAAACCCCACTGCATAAAATGCTTTCCTCCTTCCAGTTGATAAGT GCTTATAAATCTGGCATATGATTCGATGACTTTGAACCAAGTCTCCTACT CTTTCAACAGTTGCTCAATATTCCGTCATTGAAATAGAGGACTTTGTGGC TTTGCATCTATACATAATGTTAGATGCTGTTTCTCTTACTTAATCCCCAT CACCCTCACTTCTCAGGAGCATGATGGTGATGTATGGTTGTATGGTAGAC ACAGAAATAATAAGATTTAGTATTTAATGCATACCTACTCTTAGTCATAA CTTTAAAAATATTTCATTTAATCCTCATAATAATCCTGCCTTGTAGATAT TATTGCCAGTTTACAGATGAAGAAAGTGAGTTTTAGAAGTTGAAGAAACC CGATTAGTTATCAGAGTCAGATTTAAACTCAAATCTACCTGACTCAAGTA CTTTTGACAAAGATAAGTTGCACTAATGTTCATGTTACTAATTAACACCT AATGAACAATGTATAATTCAAAAATGACACAAATTTTGTGAGAAAATATA ATTATTCACTCATTTAATTTTTCACTCTGCTTTAAGCCTCCCTAATTCTA AAAGTAGAAAAATCAGCCAAGTACAGATTACCTATATTTAGCTGTAATAT AGAAAAAGAAAAAAGTTGCAATGAAATTCAACACTGAGAAAAATGTTTCT TAATCTAATTAAGGCTATTTAAAAGAAAAAGAAAACTAAAGAAAGCAACC TACTGAGCTTAGAAGCATTCCTATTAAAGTTGGAAACAAGACAAATTACC AACTATCACCACTTCTACTCAACATTGTCCTACGAGCCCTTGCCAATAAA ACAAGAGAAATAAGAGTTAAAACAATTAGAAAACAAATTAAAAAGGGCTT CTTTGCTCTTCAATATGGATGCAGAAAGTCCAAAAGAATAAACAAACAAA ACAATACTGGGAGAATTCAGCACTACTGCAGGACGCAAAACCAGTGTACT AAAATCAGTGTACTCTTACATAGCAGTAATAATCAACTAGAAAACAGTAG GAAAAAAGTTATCATTTGTGATACCTGTGGAGCTACAAAGTAATTAGGAA GAAATCTAACAGAATATTTTAAAAATATTTCTAATATAGTAAATTACCAA ACCAAAAAATCTTAAATATCATAAAAATGTAAGCTGCAGCCTAGTTAATC TCTAAATTCAATGCAATGTCAATGAAAATCTCCACAATGATATTGATATG GAAAAACAAAGACAACTTTTAGTGAAAAAACAAGGTGAGGAGCAGACCTT GTCTTTATAGCTGACTAAAAACTATAATAATTATGGCAGTGTGGTGGTAG GTCAGAGTTTTGTTTTTTTTTTCCAAATAGACAAGTGAAAGAGACTAGAA AGCCAAAATACAGATACATTAATACATACAAACTTGATACACGGCAGGAA TAAAATGATCTGTTCAGCAAAAGAAGCGAGGATAACTGCTTATTTATACA GGAAAAAACTGGATCCTCATATACAAAAATAAATTAAACTTAAAATTTTT GAAAGAAAATATGGAAGGAAATCTTAGTGAAAAGAGAAACCACAGATTTG GAGAATACATTTATAAATCATTTAATCAAGGAAAATTAACATCCAGAATA TATGTAAAACTCCTACAAATGACAGACTCTTTCTTAGACCAAATTTCAGT TAGGCTCCTCTGAGGTCTCTTCTCAACCAGACCTTCGACTTCTGTGTCCA TTTTTGCAGAATTCAGTCATAGCAAGAATCCTGCCAAGTCAGTTTAGCAA GAATCCCCTCATCCTTTATATATGATCACTCTTAATATCTGATCAAATTC CTCATTCCCTCTGACTCAGGGAAAAATCAAATAATTATTTTTAAAAAATT CTTCATTCTCCACCATCCCCAAAGTGATATATAATCACCCTGGCCTGCCT TCAGCAAGAATTCCATTAAATTGGTTTAGTAGGAATCCCCCTACCCTTGA TGTTTTCTCTTAAGAATATTCCATGCATTCTTCCCCTCTCTCTGCTAATT GGCTATAAATGCCAACCTGTCTTTACTTTATTTAGAGTTGAACCCAATCT CTCTCCGCTGTTGCCATAGAAGCAACCCTTATTGCAACAGTCTTGAATAC ACTCTTCCTTACTGTTTTAACAAGTGTCAGAATAGTTTTTTCTTTAACAC AAATCATTAAGAAAAAAAAACTCAACTAAAAATGTGCAAAACAGATGAAT AGGAAACATAAAAGTAAACTTATGACCAAAACGCATATGAAAAGATGCTC AACTGCACTATAATCAGAAAGACAAATCAGAAAAAGATACCACTTCAGAC TTATTAAATTGGCAATAATCTTTTTAAGTCTGAAATTTCCAAGTATTGCT AAAGACAAAGAGAAAACAGGAATTATTTTTTGCTGTTCATGAGAAGGTAA ACAAACATAAGAGGCTGGAAAGCATTTTGTTGTTATTCAGCAAAATTAAA TGTGTGCATACTCCATGACCCATTTTTACACATCTATTTATTAGATAATA ATATATATGTATATGATACATATTAATATATAATATAAAACTTTATATAT GTGTTTATATGTGTATATATGTAAATATATATATTATATATATGTATATA AAAAACTATTCACAGAGGGAAAAGAAAAACCTAAAAGTCTACAGATTATC TCCAGAACTCAAAACTTCATAACATTGGAATTGTGTTTGCATGGACCTGA AAGCACATTCCAAAGGATTAAAATTATAAACTCCACAAAAATGCTGACTA TTTAAATGTTTATCACACAATTAATGAGAATGTTATCTTTTCATATGGAT ATCAAAGTAGTCCATGACTGACACCCATAAGAAACTGACTGTTCTCCAAA CAGAGTAAATAGTACAGATTTTTGTACCTTTAAAAGCACATTCATACCTA ATCTTATTTGATTATACTAGCTGACCTAAGAGTTGGCAATATCAACATTT TGTTTGTTTGTTTAAGATAGGGTCTCACTGTTGCCCAGGCTGGTCTTCAA CTCCTGGACTCTGGTCTTCAGCTCCTGGACTCAAGTGATCCACCTGCCTT GGCCTCTCAAAGTGCTGGAATTACAGGCATGAGCCAACAGTGCCTGGCCC AATGTTTGTTTTATTTTTTAATGAACTTTCTGTGTAAATGTTGATGCCAC CAGCCTCCACAAGAATGGAATATACTAGCTGGCCAAATGATTAGCTAACA TAAGGAACCAGAACAGATAACCCTAGATCCCTCCTGACATTAGCTATCAA ATAAAATGCTTTTGTCAAATTTACATAACTTGGACAAGCTTTTATCTGGG GAAAAGCAAGTAGTTCTTAATGTAGTGTTTTCCTTCCTTGGCAAGTGGCT CTAGCTGGTATTTCAAGGCTCTAACAGAGAATCGGTGGTGCAAAGCCTGA TAAATCGTCATTTGAATAGCAAATTATATTGGACTTTAAGATTCTCTTCC ATTAAGAGAGAGTAAATGTTCCAAATTCTCTTAATTTATCTGACAGGTCA AAGGCAGGCTTGTGGGCATTTATATTCAGAAGGTTGTCTTTATTACTAAA TTACCTATGAGCTTTTAAAGTCCAGCTTTACTTTCTAGAAAATCTACTCA AATTTTAAGGTAGATAAGAAAAATGAGAAAGAATGGAATTCTGTATATTT TACCTTCTCATTTTGTTACCCTAACCTAGAAGGAACATATACAAATAGAT TCAAACAGCTATGTGGTTTATTACAAGAAGTCATCTTTTTAAGTGATGAT CTTTACATAATTAAGCATATGGATTTAGAAGCTATTCCCAAAGGTGCAAA AGATGAAGTGATGCGACTTGATGACTATGATAAAAACTAAGAAAAGACAA AAATGGTAAATGGAAGAGGGAGGGAGATGTATATTTATCACAAGTGTACA ATGTATTAGACACAATGTTGCATAGTTGACCCATAAGAAATTATTTCACT TTCACAAAAATCAGTAAATTAAGAATCTTTGCTCCTCATTTAACAGATGA GCAAAGGCTCAAAGGTGTTAATTATTTTTTCCCAAATCAAACAACATATT TTAATCCTAAGATGCAAACAATGGCCTGTGTA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19009.hp1 NA18943.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	264	0.0076	-4231	c.840 others(18): Show c.840+7639_840+11869del	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	6/8			chr4	TogoVar

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