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
STPG2_chr4_97553872_98148476	98068596	GACATGTT others(2378): Show GACATGTTTAGGGGCTCTCTGGGTCCAGACTCAAACAATGTGTTCCAGAA GTTGTGTGTAGGAGTGTAAGTACAATCATGAATCACTTAACGATGGGAAT ACTTACTGAGAAATGTGTCGTGAGGTGATTTCATCATTGTGCAAACATCA TAGAGTGTACTTACACAAACCAAGATGGTATAACCTACTACACACCTAGG CTATACAGTATAGCCTATTGCTCCTAGGCTATAATCCCAAACAGCAGGTT ACTGTACTTAATACTGTGGGCAATTGTAACACAATAGTATTTGTGTATCT GAACATACCTAAACATAGAAAAAGTACAGTAAAAATACAGTATTATAATC TTATGGGACCATCATCATACGTGCAGTCCATTGTTGACCAAAATATCATT ATGCAGCACAAGACTGTAGGGTGACAACCACTTTATGCCACTGAATTTCA GAATTTAAGTAACCAAACATTTTTACATTTTTAAAAATGTATTAAAATGT ATAAATAAAGATATGAGTATGTTTGTGCAATTTAGTATAATGGATCATCT ATATAAATATATTGATCATAAGCTGTAAAACACTTGCACTGTACTATCTA ATTTATTATTCTTCATAGGAGAATTTGGTGTTCCACATACATATATTCTA TACATAATTGAAAAGAGTCATTTAAATAATTGTTTTTAAGTTTTTTTAGA CATCGAGTAGTAATTATCTTAGAAATGACTGATATGCAAACTTTTACGCC ACAATAAATAACTGTAGGAAACTATATTTTAATTTTTGTATATATTATTT ATAAAGTTTTGCCTTTTCCCCATCTGTCATCATGATTTGTTGCAATTAGT GTGCCCTTAATCAGCAATTTTAATTGTCTGTGTGCTGGGATATCAGAAAG TTTGTTGACAGATGCCTAAAGAGCAGTAAGTCCTAACGGCCCCTCTTAAG CTAAAAAAAGCATGAAAAATAGAGGCAAAAACGTGTGCTGCTTACAGAAC AGAGTTTGAGTTCTAACTGTTGAGAGACAATTCTCCATGAATCTCTCACA TTTCCATACACATCTAGACATTAACAGTCAACATGCTCCAGGATTTTCTT TTCAAGATTTGTATAAGCAGATGGCCCTAGAAAGATGAAGACAGTAACTT ACGGCACATATTTATTCATGTTCTCAGATAGTAAATATAGAGACACCACC TCCACCAAAAGCATTTAAGGGTAATGAAAGTAAAAATACCTACCTCCACT TCCAAGGGTAGAAGTGCTACATTCCAGGTTAATAAAGATAGTATGTCATT CCCTGGAAGTAAGGATGGGCAGGTTTGCCAGCAGCTCTGATATAAAACGA GAGTCAGAGGTACAAAAAAGAGCTAGTACCATTTCTACTGAAACTATTCC AAAAATTGAAAAGGAGGGACTCCTACCTGACTCATTTTATGAGGCTACCA TCATCCTGACACGAAAACCTGGCAGAGATGTAACACAATATTCTTGATGA ACATCAATGCAAAAATTCCTCAAAAAAATACTACCAAATCAAATCCAGCA GCACATCAAAAAGCTTATCGACCACAATCAAGTTGGCTTCATCCTCAAGT TGCAAGGTTAGTGCAACATACACAAATCAATAAATGTGATTTATCACACA AACAGAATTAAAGGCAAAAACCACATGATTATCTCAACAGACACAGAAAG GGCCTTCAATAAAATTCAACATCCTTCATGTTAAAGCCTCTCAATAAACT ACATATTGAAGGAACATACCTCAAAATAATAAGAGAAATATATGACAAAC CCATAGCAAATATCATACTGAATGGGCAAAAGCTAGAGGCATTCCCCTTG AAAACTGGCACAAGACAATGATGCCCTCTCTCACCACTCCTATTCAGCAT AGTATTAGAAGTTCTGGCCAGGGCAATATGGCAAGAGAAAGAAATAAAGG GTATTCAAATAGAGAGAGAGGATGTCAAATTATCTTCGCAAATGACATAA TCCTATATCTAGAAAAACCCATCATCTCAGCCCAAAACCTTCTTAAGCTG ATAAGCAACTTCAACAAAGTCTCAGGATACAAAATCAATGTGCAAAATTC ACTAGCATTCCTAGAAACCAACAACAGGCAAGCAGAGAGCCAAATCATGA TTGAACTCCCAATCACAATTGCTACAAAATAGAATAAAATACCTAGGAAT ACAGCTAAGAGAAGTAAAGGACCTCTTCAAGGAGAACTACAAACCACTGC TTAAGGAAATCAGATATGACATAAACAAATGGAAAAAATTCCATGCTCAT GGATAGGAAGAATCAATATCATGAAAACATCCATACTGCCCAAAGTAATT TACAGATTCAATGCTATTCCCATTAAACTACCATTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	264	0.0038	-2385	c.612 others(19): Show c.612+34972_612+37356del	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
ZDHHC22_chr14_77126270_77146791	77144406	CCAGCTAC others(2378): Show CCAGCTACTCAAGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCA GAGGTTGCTGTGACCCAAGACCATGCCATTGCACTCCAGCCTGGGTGACA GATCAAGACTCTGTCTCAAAGAGAAATATCTGCTGAGGACACATTTGCCA TTGATCTTGCAACCTGCCACCACCCACCCTGACTCTAATCTCATCCTCCA TAAACAGTGACAGAAATGATTTATAAACCACACTCTCCATTGCTCTTGCT GTAGATTCCTATAGTTAAGCCATAACTGTACCTGCAGGCAGTCCCATGGG GACAGGGGCACAGATAAGCATCTCATTGCTGTCCAGCCCTTTCCTGGAGA TATGCGCCCTCAATCTTGCTATTTGGTGGTGTTATTTGAATAAAATGAAT TCCCTTTCAAGTGGAAATTATTCCACTTTGCTTCAGAGTGTTGTATTACA AGGAGAGAAATCCATGTAGCAAGCAGCTTCTGCCTTGAGTGAGTAACCCC GCCTCCATGTCTGTCAGGCCTATAATGCCCCAAATGTTTTGGATGGAGAC TATTCCAAGATGCAAGGAGCTGCACCTAAGAAGGCTGGTGGTGGTTTTCT TTCATTCTTATGCTCTTATTTCAGATAGATCAAGGTGAAGATAGGCTTGG GTCAGGATGCTCTTTAGCGCTGACAGCAGATCATAGCCAGGGATAACCAC AGAGTGTTTCCCAAGCCTGGGAAGGCTTACAAAGATGCCATCCCTGCCTG CCCAGATTTGGAAAACATGCAAGTGTAATCTTCATTTTAGCCAACTAAAT ACATGAAAATTGGATTATCACAGAGTTTCTATTTGGAGGTGGTAATTTAC TTTGCTAACTATGTCTTCATTTTAACAACGATAACATTACTTTGATGTAA TAAAGTGCTTTGCAGGCTACAAAGTCATCCACAAAATTAAAATTTCATCC CATGAATCTCTCTCAACAGCACAAACTAGCTGGGGTGAGAATTATCAAAC CCATTTTCCTTATGGGGAAACTGAGGTTCAGAGATTTGCTGCATGTTAAT TTGCAAGGCTTGACTATGTTTGATTTGAAATATGATTTAATATGCAAAAC ATATCTCATCGATATTTAACTTTTCTGGAACATGTCAGTTGCATAAAGGA AGCAGGTATGTAACATACTCCCCCAGAGTAACAGACCTGAAGGATCTCCC TTTACCTAAAACTGCTGTGCTCTGCACTCTGCATCCTGTCTACTCTGCTT TGTCTTCAACAACTTTTATCACCACTTGACAGGTATATATTTGTCTGTTT ACTGTCTGTCTCTCCCCACTGAATTCTCAACTCCGTGAGAGTAGGATTTG AACTGCTTTATTCACTGCTATATCCCAAGTGCCTATAACAGTGTCTGGCA CATAGTAGTAGGTGCTCAGTAAACATTGGTTGAATGAATAAATATAATAT GCATAAACTTGTAAGCCTGCAGCACATTAATCAAATGCCCTCAGGCACTC TGCTGTTTGTCGTGCTGGAGGGGGTGTGTGTGATTAGGGGCAGGTATGCT CAGCCTCCAAGCTCACATGTCAAGGTAGAAACTACAGGTCTGGGTGACAA GTAAACCCAGTGGTCTCCCAGGTGATTGGTGCATCAGGGTGGAAATCTTG GGTTAGCTTGGGAGAGCCTCTTTTGCAGTATCCAGGCTGTGGAAGAATGA ACCAATGGGCTCTTTCACCAATTAGCCATGGTTTCCAGGGACCGTTTAGG CAGTCCTGGTAGGGACGCCTGTGCCTGTGGACAAGCGAGTACCCAGCCCT GTGGAAGCGGTGGCAGCAAGATTAACTGGCCCTTTCATCTCAGAGCACGC AGGAGGCAGAGGGAGGAGAAAGAGGGGGTATAGGGAGGAAGAAGAGGAGG GAGGGAGAGGGCAGAGAGGAGAAGAGAGAAAAGGAGACAGGAAGGAGAAG AAAGGGGGGTAGTGAGAGAGTGCTCATTTATCTGTCTGACACACCAAGTT TATGTCTTCATGATGGAGGAGGCTCGGGAGGAGCAGGGCAAAATCAGCTG TCTCCATCGAGAGCCCTGCAATGCCAGGTGTCCAGGTTGGGAGGGAATGA GGCAGAAGGTGGACATCTCAATTACAGGAGGAGGGGAGTGAGACCAAGGG AGTGAGGTCCCTGCAGTGCCCTTGGCTGTTTGGAGACCTCTTAGATATGT CGTTACCGTCACAGAGCAGCAGGCAGCACAAACCTCACACTCCTGACCCC CTCTTTCTCCCTCCCCCTACCCCAGCAGAGATGGCCCAGGCTGCAGAAGA GAGGCAGTGTGGTGCGACCAAAAAAATCACAAGTTTTTGGTGTCTGTTGA CCTGAGCTTGTCTCCCAGCTTTGCCATTCACCAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	452	0.0022	-2385	c.-52 others(11): Show c.-5203_-2819del	ZDHHC22	ENSG00000177108.5	transcript	ENST00000319374.4	protein_coding		2616		chr14	TogoVar
ASMT_chrX_1610059_1648081	1636939	GCTCTCCT others(2377): Show GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCAT CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA AGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCAC GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC CTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGT GGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGG TCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATC CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCT GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTG ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATG GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(27): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00733.hp2 HG01081.hp2 HG01346.hp2 HG01496.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02080.hp2 HG02148.hp2 HG02165.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18941.hp1 NA18942.hp1 NA18956.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp2 NA18988.hp1 NA19064.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001	a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0060 others(27): Show a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0113 a0001c0001t0002g0039 a0001c0001t0002g0119 a0001c0001t0002g0166 a0001c0001t0002g0175 a0001c0001t0002g0201 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0112 a0001c0003t0002g0176 a0002c0002t0001g0055 a0002c0002t0001g0067 a0002c0002t0001g0124 a0002c0002t0001g0185 a0002c0002t0001g0220 a0002c0002t0002g0111 a0002c0002t0002g0131 a0002c0002t0002g0143 a0002c0002t0002g0155 a0002c0002t0002g0161 a0002c0002t0002g0162 a0004c0004t0001g0168	30	194	0.1546	-2384	c.910 others(16): Show c.910+380_910+2763del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
DAZ2_chrY_23214533_23296356	23274497	TTGACGGA others(2377): Show TTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCTGCCGTGTC TCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTACACCTC TTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTACTTCTTTC TGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCATGTATGCTG CTACCTGTATGTTTTCAAACAATAAGAATTCATTGAAACATATAAGACAT TATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTAGTTTTCCG GAATGAAGTACAGACAAAGCCATAACGCGTGTACAACTACACATTGTCCT ATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACAGGGAAATA GCAAATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTA TCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACACAGTATAAG GTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCCCCCTTCAC ACCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCATAAATCAGT CATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGATATTTTCCC TTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGTAATTTTAA AAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTTTTCAGGCA TTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGATATCAGTT GCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATTATTTGCTT TCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCCGGAATAGT TGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAAACACTTAG AATTAGTGTAGAAGGAAGACCTCTGTCTTATTGAGAAGTAATGAAGTCGA ATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAACAGATTTCT GAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCATCTTTACT GTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAATTTTCTTAG GGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAGCACAGAATTC CAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAATTCTCTGGG TCTCTTTTCACAGATACAAGTACATCTATGCCCAATAATTATATCTATGG TAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTGCCAACTCC CGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAACAAGAATGT CATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTACTTGTAT TATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTGTTTCTC ATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTTTCCTTT TTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAGCAAAGGG ATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGACTTCCTGT TCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTATTTTTAAGT GATTTTTATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGTTAACCCG ATTATAAACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGAGGTTTTT ATTTGCTTAAGCAATGGCAGGTCCACTTAATGATAGACCATATCATCAAA GAAAGGTAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGCGTAGATT CTGCCTCTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAGACAGAAA TGCTTTGCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACGAGAGTAT TACCTCCAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTTCCTAAAG TGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCTTCGGTAA GTTTAACAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCCAGATGCC TCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCGGGAATGGGT AGATTTCTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCTTCTTGCA TCTAATTTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGTTTTGACA TACTCCATCACTTAATGTTGATAAAGGACGTTTATATTCTTCTTAGTTCG TTTTATTTATGTGTTAGCTTTAAAGACATTTTCTG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03688.hp1 HG03688.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0047 a0006c0008t0001g0047	1	44	0.0227	-2384	c.165 others(17): Show c.1651-196_1723-197del	DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	23/28		INFO_REALIGN_3_PRIME	chrY	TogoVar
ASMT_chrX_1610059_1648081	1636924	GGGGACAG others(2376): Show GGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTC TCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC CAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA GGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	165	0.0061	-2383	c.910 others(16): Show c.910+370_910+2752del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1636931	GTGTCCCA others(2376): Show GTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT GTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCAC GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC CTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCA CAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT CCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp2 others(76): Show HG00099.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01168.hp1 HG01175.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18939.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18986.hp2 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009	a0001c0001 a0001c0003 a0002c0002 others(7): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0002c0008 a0003c0007 a0005c0009 a0006c0011 a0008c0010 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0002c0008t0001 a0003c0007t0001 a0005c0009t0001 a0006c0011t0002 a0008c0010t0001 a0009c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0137 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0169 a0001c0001t0002g0184 a0001c0001t0002g0200 a0001c0003t0001g0013 a0001c0003t0001g0023 a0001c0003t0001g0038 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0058 a0001c0003t0001g0090 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0106 a0001c0003t0002g0133 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0177 a0002c0002t0001g0003 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0034 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0085 a0002c0002t0001g0098 a0002c0002t0001g0107 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0174 a0002c0002t0001g0189 a0002c0002t0001g0210 a0002c0002t0001g0221 a0002c0002t0002g0136 a0002c0002t0002g0158 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0186 a0002c0006t0001g0103 a0002c0006t0001g0187 a0002c0008t0001g0010 a0003c0007t0001g0011 a0005c0009t0001g0139 a0006c0011t0002g0076 a0008c0010t0001g0108 a0009c0013t0001g0048	79	219	0.3607	-2383	c.910 others(16): Show c.910+444_910+2826del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DHRSX_chrX_2214506_2505976	2277658	CGAGAGGG others(2376): Show CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGA GGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGG GGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAG AGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGG GAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATG GAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAA ATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAG AGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGA GAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGA GGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAG AGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAG GAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAAGAGGAGGAAATGGGGGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAA	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	42	0.0238	-2383	c.388 others(19): Show c.388+11461_389-10712del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
VPS13B_chr8_99008274_99882580	99587324	ATGGGTAT others(2376): Show ATGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGT TCTAGATCCTTGAGGAATCGCCACACTGTCTTCCACAATGGTTCAACTAG TTTATACTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTC CCCAGCACCTGTTGTTTCCTGACTTTTAAATGATCTCCATTCCAACTGGC ATGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTTTGATGACCAG TGATGATGAGCATTTTTTCATGTGTCTGTTGGCTGCATAAATGTCTTCTT TTAAAGTGTCTATTCATATCCTTTGCCCACTTTTTGATGTGGTTGTTTGA TTTTTTCTTGTAAATTTGTTTAAGTTCTTTGTAGATTTTGGATATTAGCC CTTTGTCAGATGGGTAGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGC CTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCCCTTTAGTTT AATTAGATCCCATTTGTCTATTCTGGCTTTTGTTGTCATTGCTTTTGGTG TTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTAATGCCT AGGTTTTCTTCTAGGGTTTTCATGGTTTTAGGTCTAACGTTTAAGTCTTT AATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCTAGTT TCAGCTTTCTACATATGGTTAGCCAGTTTTCCCAGCACCATTTATTAAAA AGGGAATCCTTTCCCCATTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAG ATGGTTGTAGGTGTGTGGTGTTATTTCTGAGGGCTCTTTTCTGTTCCATT GGACTATCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGCACGATGCCTCCAGCTTTGTTCTTT TTGCTTAGGATTGTCTTGGCAATGAGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGTCATTGAATCTACAAATTACTTTGGACAGTATGGCCATTTTC ACAATATTGATTCTTCTATCCATGAGCATGGAATGTTCTTCCATTTGTTT GTGTCCTCTTTTATTTTGCTTAGCAGTGGTTTGTAGTTCTGCTTGAAGAG GTCCTTCAGATCCTTTGTATGTTGTATTCCTAGGTATTTTATTCTCTTTG TAGCAACTGTGAATGGGAGTTCACTCATGATTTGGCACTCTGTTTGTTAA TATTGTATAGGAATGCTTGTGATTTTTGCACATTGATTTTGTATCCTGAG ACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGAT GGGGTTTTCTAAATATACAGTCATGTCATCTGCAAACAGGGACAATTTGA CTTCCTCACTTCCTGATTGAATGCCCTTTATTTCTTTCTCTTGCCTGATT GCCTTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGG GCATCCTTGTCTTGTGCTGGTTTTCAAAGGAAATGCTTCCAGTTTTTGCC CATTCAGTGTTTATCATAAATAGCTCTTATTATTTTGAGATACATTCCAT CAATACCTAGTTTCTTGAGAGTGTTTAGCATGAAGGGCTGTTGAATTTTG TTGAAGACCTTTTCTGCATCTATGGAGATAATCATGTGGTTTTTGTCATT GGTTCTGTTTATGTGATGGATTATGTTTATTGATTTGCATATGTTGAACC AGCCTTGCATCCCAGGGATGAAGCAGACTTGATCATGGTGGATAAACTTT TTGATGTGCTGCTGGATTTGATTTTCCAGTATTTTTTTATTATTATTATA CTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATGTGT ATATATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCAT TAGGTATATCTCCTAATGCTATCCCTCCCCGCTCCCCCAACCCCACAACA GTCCCCAGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTT CAGTTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTG CGATAGTTTTCTGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAA AGGACATGAACTCATCTTTTTTTATGGCTGCATAGGATTCCATGGTGTAT ATGTGCCACATTTTCTTAATCCAGTCTATCGTTTTTGGACATTTCGGTTG GTTCCAAGTCTTTGCTATTGCGAATAGTGCCGCTATAAACATACATGTGC CTGTGTCTTTATAGCAGCATGATTTATAATCCTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0058 a0002c0003t0003g0059 a0002c0003t0003g0058 a0002c0003t0003g0059	2	132	0.0152	-2383	c.522 others(20): Show c.5220+9735_5220+12117del	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS72_chr1_151171304_151195197	151192787	TGAGACTC others(2374): Show TGAGACTCCATCTCAAAAAAAAAAAAAAAAATTCTAGTGTTCTATATCAC TGGGGGATAACTATGATTAACAATAATATTTTCAAATAGCTAGAAGAAGG ATATTGAATGTTTGTGCTGGAGACAAATAAATTATATATTTGTGAGGCCA GGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTAAGGTGG GCAGATTATTTGAGGTCGGTAGTTCAAGACAAGCCTGACTGACATGGTGA AACCTTGTCTTTACTAAAAAGTACGCAAATTGGCCAGGAGTGGTGGCAGG TGCCTGTAGTTCCAGCTACTTAGGAGGCTGAGACATGAGAATCACTTGAA ACCGGGAGGTGGAGGTTGTAGTGAGCCAACGTCGTGCCACTGCACTCCAG CTTGGATGACAGAGCGAGACACCATCTCAAAATAAATAAATAAATAAATG ATACATTTTTTAGATGACAGATATACTAATTATCCTGATCTGATCACTAA ACATTTTATGTATTGAAACATCACTATGTGCCCCATAAATATGTACAATT ATGTGCCAATTAAAAATTAAAATAAAATAAAACAACAACAAAAAGAGAAC ACAGCTTTAGAGCCAGCCAGACCTGAATTTGAGTGTGAACTTTAAGGTCT TTTAGCTGTATGACTTTGGACAAGTTGCTTTACTTCTCTGAATCTCAGTT TTCTCATCTGCAAAGTGGGACTGATAATAATACCTATCTTTTAAGGTCGT AGAAGATTAAGAGATATAATTATTGGCCAGGTGCCATGGCTCACGCCTAT AATCCCAGTACTTTGGGAGGCCGAGGCGGGTAGATCACAAGGTCAGTAGT TCGAGACCAGCGTGGCCAGTATGGTGAAACCCCATCTCTACTGAAAATAT AAAAATTACCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTAGTCGAG AGGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGACGGAGGTTGCAGTGA GCCAAGATAGCACCACTGCACTCCAGCCCGGGCGACAGAGCCACATTCTG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAGACAGAGAGAGATAATTCTTG TCAACTGCTTAGCACAGTGTTTAGTAAGTGCATAGTAAATGTGTAGTAGG TGGTAACTACTACATGGCATTCAGTATTCAGATCCTTCATAATTTAGCCT CTCCCTGTCCTTCTAGTCACACCTCCTGCGACATCACTACTCCAGCATCT CTCCCCTAACACCCAATTCTCTGTCATGCCTCTATGCCTTTCTTTCTCCT TAGAATCCCTTTCCTTTCTTTTCTAATTTTATGGGAGAGTGGAGTCTTCC TGAACACCCATTCCTCTCTTTCCAGGCACAATTCATATAACTATGGAGAT GATGTCTTCTGTAGTCTCTGGAATAGTTCCAATCTCAAATATTGTCTGTT GTAAAGACTGTTCTCATTTTTTATTCTGAAAATATGGTTATCAAACCATA GCACTTACACAAACTTTATGATGGCACCTATTACATTGTATTCTAATGAT TCACATGTCTGTTCCCCTCATTAGTCTGTGATCTTTTTGAGGGCAGGGGC TTAATCTTTTCCTTTTTTTAATTAAAAAAAATTGTTTTGGAGACATGGTT TTGCTCTGTCGCCCAGGCTGGAGAGTAGTGGTGCAATTTTAGCTTACTGC AGCCTTGACCTCCTGGGCTCAAGTGATCCACCCATCTCAGTTTCCTTAGT AGCTGTGACTACAGGTGCGCACCACCACGCTCAGCGAATTTTTGTATTTT TTGTAGAGATAGGATTTTTGCCATGTTGCCCAGGCTAGTCTTGAACCCCT GGGCTCAAGCAATCTGCCTGCCTCAGCTCCCAAAGTGTTGGGATTACAGG AGTGAGCCATCCTGCCTGATGATGGGCTTAATGGTCATCTGTGTATTCCA GGAACTCTAATAGTGCCTGGGACGTAGCTTGGGCTAAATAATGTTAATTG AGTGAATTAATTAATGAATGATTAATTGAATAAATAGCCCATCCTCTTAT TGTAGAATCCTTTCCTTGCTCTTGCCAGTCCCCATCACTTCATTCTAATC TTAGAAACTTTTCTGGCCGGGCGCAGTAGCTCATACCTGTAATCCCAGCA CTTAGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGATCGAGACCAT CCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAGATACAAAAAATTAG CCGGACGTGGTGGTTTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGATG CAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGCGAGCCAAGATC GCGCCACTGCACTCTAGCCTGGGCGACAGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	406	0.0025	-2381	c.-50 others(11): Show c.-5047_-2667del	VPS72	ENSG00000163159.15	transcript	ENST00000368892.9	protein_coding		2591		chr1	TogoVar
LRRC72_chr7_16521825_16586568	16523151	ACCACAGT others(2373): Show ACCACAGTTTCACAGATGCTGGCAAAAGATGATATTTCTGGCTTAGAGAC AAAGGATAGCTTATTACTCATGGTAATAGCATAGATAGAATATTAGTATT TCTACCAGTTCTCCTACCCACAATTTCCAGAGGGCGATGTGAAATGGGCC AGGTGATATGAGCACATAGAGTGGGTTGTGTTACAGAAGAGGAAATTTGA ACTTAAGGAAGCCAGACCTTTTATACTGGGCAGTAAGTTGCCTCAGCTTA TCTTTATAATAAATGAGGGAGACATTATCTTTATTATACTGCTCAGTTGA AAAAAAAAAAAAAAAAACACCTACTTTTTGCTCTGAAGGTAGACGCTATA TCTACCAAGGCTGTAGGTAGACACTGTATCTTCAAAGGCTGTTTGCTATA CAAATATCCTTGAAAATGTAGTCCTTACCAAAGGCAGTTAGTGCCTTTGC TTATGTGCAGTAACAGGAGAGACTCCTGGAGAATTTTCCCCCAATATTCC ATTGTTATTTGCATTTTATGTAAACAAAAAAAAGAATTGTAGCTATCAAT TAAAATGGGATGTTCTTTTACCTAAAATTATAATAATGAAAATTTTGATA GCTTGGTCATCGAATATCATAAAAACATGTATTTTTATAAATTTTGAATA TTTGTTTTTTTAGAGATGGGGGTCTCACTCTGTTGCCCAAGCTGGAGTAA AGTGTGTGATCATAGCTCACCACAGCCTTGAACTCCTGGCCTCAAGTGAT TCTCCCGCCTTGGCTTCCCAAAATGCTGGGATTATAGGCATGAGCCACTG TGCCTGGCCAGATATATCTTTTTATACATGTGATATAAGAATATGTATGT TGATTGCGGCCGATACATTGTTTATTCTATGCTCATTTCACACAGTAGAA AATGAGTGATAATGATCATTGTATCTAATAAATATTTTTCACTCACTTAG AAAAACAATATCTAGATTGATAACTGGAATTATTAAAGACAAAATTAGAA AGAATTATTTAAATTATGTAGTTTTAACGATAGCCATCACATGCATAATT TTTTTCTCACACATTTTTCACTGAAAACTTGTTCTTAAAAACTTATTCTA TATCAATACAAGAATCTTTTACTCTGTAAACAATACACACAACCTGTCTA GGAGAGTTAATCAAATAATAAATTTTTTGAACTGAACTTCCAGCTTTTAC TGTTGAAGAAACTGAGGCCCAGAGACATTAAGTGATTTGAAGGTGGCCAA CAACTAGTTGATGTCAGAGCTGAGACTAAATCCCACATGCCCTGACTTGG AGCAGAGGGTTCTTTCTTCTTATCCAAATCCATGTACATGATATGATAGA GCTTTCAAACTGGGATATGCATACCCCTGCGGGCAATGGCAGCAAGCCAG GGAGGTAAAGCCACAGGATAAACACAGGGTGTCTTGCTTCAATGTAAATA TTACACAAAGATTTGAGGAGAGTTTGGGGAACTGCTTTATTTTTATATTA AAACAAGATTGATTGTAAAGAAGAATGCATATTTTACATGAATTTTAAAA ATTTCAGGCTGGATTCCTCAGGCTATAATCTTACCCCATGGAGGTAAAAG TTCTCTCTGCTCACTCTACTGGGAGTAATTCTTTTGTAAAAATTTCATGT CACCAATGTGAGAATGTCTGGGAAGGAGCTTTTGTCCAAAAAGTGCCTTC ATTAACCTCCATCCTTGAGATTCCATAATTAAATTTGCTTTATTTTAGCC TTCGTGATCAGTTAATTTTTTCTTGAAGAAGGAACACATTAAGACCTTAT AATAAGTGAGTTTTGAGTTCCTTTCCTAAGAATAAGGTTTTTTTCAAAAT TACCTTTTTAATATGGGGTAAAATGCTAAAAAAATAAGAATAAAAATTTT TAATGTGATTTTAGTAGAAATTAACTGGTGACTAGTTTACATCTGCAAGA TGCTCTTTAAAACTATTTTGCATATGGTTATAAAGTCACATTTGTGTAAT GTAGAAAACTGAACAAGTATTGTGCATTTCCATTTTTTCATGTAGCATAT TCGTGAATAATATCTGCAATGCTATAACACATATCAACAGCAAAAATGAG CCAATGAATTATTATATATGCCTTCTCAGTGGACCATTTCTCTCATTTGA GTTTTATTTCCAGGATAGAAACTACTTAAACAATAGTTCTTAGATGATTA ATCCCTCCACAATAACTTGGAGAGCTTTTACCCCCACCTCAGCCCCAAAT ACATATTAGAACTACTGAAACAATGTGTACTTGATTTCCCCACTGAGACA TTTTTTAATGCTTCATTTCAACACCAGCATTTTTTTTTAAATGCAAGTAG CTTGACCCATTTCAGAAAGCTACATTTGATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	408	0.0025	-2380	c.-38 others(11): Show c.-3801_-1422del	LRRC72	ENSG00000205858.10	transcript	ENST00000401542.3	protein_coding		3673		chr7	TogoVar
CD2_chr1_116749430_116774229	116756341	GCATTTAG others(2372): Show GCATTTAGCATTGCGGCGGAAATAATGGCTACCAGTTAGGGGTCAAGTGC TTGCTTACATGATCTTATTTAAAGCGCCCAACAATACTGAGACCTAGTTG TTATTATCTCCTTGTTATATATAAGAAAACAGAGACCTAGTCAGAAGCAG CTTGTCCAAGGTCTCATTGCTTGACAGGAGCAAAGTCAGGATTCAAACTC AGAGGTCTTTTTGGCAAGAATGACGACCTTTTCTTTTTTTTTCCAAGCAG CTTCATTGAGATAATTCATCTACCATTCAATTTGTCCATATACTAAAATG GCCTTCAGTATATTCAGAGTTTTGTAACCATCACCACAATCAACATTTTC ATTGCCCCAAAAAGAAACCCTTCACCCTTTAGCCGAAAGACAGTGACTTG CTTTATGTGTGTGCACGTCAATGTCATACAACATCTTGATTCAACTTGTA GTTGGTCACTATTACCAGACTTAAGGTGACCATGGCCTTGGGCAAATTCC CTATCTGCTGTGAGTCTGCTTTTCCAATGACAACTTCAAGGGATATTCAG TGAGACAAGGTGTGTACAAGTGTCCTGCAGTGCCTGGGGCACAATGCCTG TTTTCTCAGTGCTAATGCCCTCCCACATCTCTTTGTTTCTCCAAGCTTCT CTTTTTTTTTTTTTTTTTTTAATTGAGATGGCATCTTGCTCTGTTGCCCA GGCTGGAGTGCACTGGCATGATCTCAGCTCACTGCAGCCTCTGCCTCCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG CATGTACCACCACGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT TTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGGGATCCG CCTGCATCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACGCACC CGGCCTCCAAACTTCTCAAACTCCAGTAGTTGTGCCTGCATTTCCTTCAT GAGGGAGTTGCTGCTGCAGGCTGAAGAGGCAATGGAGGGCCCCTTAGAAG CAGATGCTAGTAGGGAAGGGGTTAATCCCAGCAACTCAGAATTAAGGAGT TCTCATCCATGGAAGGCCTTAGGTTGGATCAGTTCTAAGACGCTATCTTA GTGAATGTATACGGAGGTACTACTCCACAAGGGTGCCCATCACTGCATTA TTCATGTTAGCGAAATACTAGAACAGTCAGCAGTTAGAAACTTATTAATC AGTTAAATTAAGAATGCATCCTTTAAAAAGATGCATATATGCATTTATTG ATGTTCATTAAGAAAAGAACTTCATAATATAATTTCACAATAAAGGGGAA AAGGCAGACTGTAAGATCACATAAATTAGTTTTAATTTTTAAAATATTAC ATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGGCAGACAGAAAGAG ACAGGGTCTCACTCTGTCGTCCAGCCTGGAGTGCAGTGGTGAAATATTGG CTCACTGCAGCCTCTGCCTCTTGGGTTCAAGCAATTCTCATGCCTCAGCC TCCTGAGTAGTTTGGATTAGAGGCGCATGCCAACACACCTGGCTAATCTT CATATTTTTAGTAGAGATGTATTTCACCATGTTGGCCAGGCTACTCTTGA ACTCCTGGCCTCAAGAGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGAT TACAGGCATGAGCCACCTCTCCCAGCTGAAATATTATATTATTTATATAT ATACATATAAATAGAAAATATCTGCTAAAGATATACATGAAAATATTATT CATTATTGACTTTGAGTGGTGGCGTTGTGGGTAATTTTTAATCTGCTTTA AACTTTTAAAAATATTTTATCAGCTTGTACAATGATTGGAGTTGAAAGCC CACGGATGCTGGGCAGGGAGTGATAAGAAGGGAAAAGAGGAAGCTGGCTT GGGGAGGAAGACAGGAACCCCAGCATGAGCACAGGCCAGCCATTCAGTGA GCAAATAAGCATTTCTGTGCTTCACACAGAAAATGTCGCCAGAAGCAGGG ACCCCACCTTCTTCCTCTCTGTCTCCAGCCCCATCTTCAGCACCTGGGCC TACCAGCAATCCCAGATAGTGTCAGATTGCCCACTCCAGCAATCCCAGAC ACTGTCAGCTCCCCTGAAGTGACAACTTTCCACACCCTAGTCCTGCAACC TTGAGTGGAGAGCACCTTGTAGAAATGTAGTGGGGTTGAGCATGGCGCTG AAAAGAGCCTCTGATTATGGGCTCTGGAAACCACAGATCTCAGGACTCCA AACAGCACAGAACTCGAGTGTCCTGTTTTGAGTGTGAGCCCTACATGGGG GACCATGTTGGTGTTTTCACATTTGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03834.hp2 HG03942.hp2 HG02698.hp2 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132	3	454	0.0066	-2379	c.382 others(17): Show c.382+1608_383-1465del	CD2	ENSG00000116824.5	transcript	ENST00000369478.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHKA1_chrX_72573814_72719306	72680581	TAAAGAAA others(2371): Show TAAAGAAAGTTTTTCGAGGGAGCCCGTCTGGCCATGGTGGCCGCGGCTGG TGGTTGGCGCGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCAGGACAGTC GCGGCGCTGACGCCCGCGGGCCCCAGCTGCAGATATGAAGCGGAGCCGCT GCCGCGACCGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGGAGTT CAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGCCGCGCCGGCGAGCGCC GCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGG GCAAGGAGCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCC TCTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGC CGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTG GAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGG AGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTG CCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCC CATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCAAGACCCCGTCTGGGAG GTGAGGAGCGTCTCTGCCTGGCCGCCCCGTCTGAGAAGTGAGGAGACCCT CTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCA GCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCAT CTGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCAT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCA GCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCCGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCC CAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCT GTCCGGGAGGGAGGTTGAGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCA CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCGCCCCGTCCGGGA GGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAA CAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGA AAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTC TGTGTGGAGAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAA GAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAA CCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATT AAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATG CTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAA ACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTT GTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCT GCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATA AATTAAAAAAAAAAAAAAAAAAAAAAAAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02280.hp1 others(2): Show HG01884.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 others(2): Show a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0018	5	235	0.0213	-2378	c.537 others(17): Show c.537+1539_537+3916del	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
DAW1_chr2_227866631_227929344	227868183	TTTTAGTA others(2370): Show TTTTAGTAGAGATGCGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTC CTGACCTTATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACTGCACCCGGCTTTGCTGTGTTCTCTTCAGTGCATCGTAA TACCAGGTAATATATGTCAGTTTGTCCCACTATTGGTGATGTCCTCCCTG ACTCAAGTGATCCTTTCACCTCAGCCTCCTGAGTAGCTGGGACAATAGGG GCATGTACCACACCCAGCTAATTAATTTTTTTGTAGAGACCGGATCTTGC CTTGTTGCCTAGGCTGGTCTTGAACTCCTGGGTTCAAGCAATCCTCCTAA CTTGGCCTCCCAAAGTGTTGGGATTATAGGTAAGAGCCACCGTGCCCCAC CCAAAGATCACGTTTTAAATGGGTGCCCCACCCAAAGATCACATTTTAAA TGGCATGAGCACAAGCAATAACATAGGTGACCAAAATCTACCAAAGACTT TCTCATTTCTATAGAGCAAACTCTTTGCCCCTCCCTCCATAAGTCCTTCC AGAGTGTCTTAGTGGCTAGGAGAAAGTTTGAGCTGGGAGAGAGCTTGGAT TTCATACGGTTCCCTGTTTTCCAAGTATGGGATGCTTACTACTGGTGAGA AAAAGATGATTTTTTTTTTGCACATTTATATTGGGTTAAATTGTGTCACT TAGTAGCAAAGGCTTTGCCATCTCAACAATCTTTTCAATCTTCTGAACAC ATCAAGTAGGAAGGCTCAGTTGAGTGCTATTCCGTCTTGTAGCCTGTCTT AACAATCTCAAACAGTTGCTAATTTCCTTCCTTCCCTTCCTCCCTCCCTC CCTCCCTCTTTCTTTCCTTTCTTCCTTCCTTTGTTTACAAAGAAAGGGAT GGTTTTGGGTTCAGAGTCTTTGGCAGTATATAGTAATTAGTATATAGTAA TATAGTAATATATAGTAGTATATAGTAATTCAATGCCTTTAGGTCAATAT ATTTTCCATTTTTACTGTGCATACGCATATATACAATGTATTTTAAAAGT TGGCTTTACAATATGTAGTTTTATCATTTGGTTTACAACTAAATATATTG TGAACATTTTCTCTTCTACAACAGTTAAAAGAATTGCATAGCTTGGAGGA AACATAATTTATTAAGCAGTCTTGTTGGGGACATTGAGGTATAATTTTTT TTTTATAAGGAGACTTCATTCTTTTTACAACACCTTTGGGAAAAAAATTG GAGTCCTTGTCTCATATAGCTTTCTATAGATGACGGAAACTTACCCTTCC ATTTAGCCTTTTAACTTTCTTCTCTACACCCACCTAATCACCATCAAGTA ACCCATTTTATGTTTTCCAACCTCTCTCTCCCATTTGCTTCCTCTTTCCT ACCCAGTCTCCCTGCATACATGCAGATGAACTTCCATTCCTTCAGCCCTC TGTTTCCTCCCCTTAAAGAGGCTTTCTTTCCATTTAAAGAGACTATTTTA ATTGATTTTTATCAACTCTACTCAAAACTGTATCCTAAGGTCCACATTAG GATTGGTCTTTAATAATCTGAAGATAATATTCAATTGTTTAAAAGAACTT TTAAGAAGACCTTGGTAGAATTACATGTATCAAGAAACATGACTTAGGCA CAATGGAGATATGGCTGACTTTCTTTTGAAAAAAGAAGTAGTTTTTGTGG GGAGGGCAGGGCAAAGAGGTAAGAAGTATTTGGTACTACAAGGAAATGTT AGAGACCATTTTGGAAATGTATTCATTATTTTAAGGCAACTAACAAATGA TCATCTTTCAGTTAGGACATTATAGCAGCAGCCTTTACTGGTCATGAAAT TTGAATGATATCTAAAATCATATTTCTGGAAATAGGTCAATGTCAATTAA TAGTAACTTTGTATAGAAAGGCAGATGCCAGCTAGCATATAAAAGTGGTG CATGCAGACGGTGGTAGTTCTGGAGTCCTGGGAGCCATGAGGTGCTCATC CATCACAAGGCCATCACAGCCAGGTAGAAATGCCTGAGGAAAGCAGCGGA GCTGCCCGTGCCAGCATTTACACATGGAACACTTCTTGGGCAGCCGGGTG TCATGGGGCACAGACCCACAATTCTCTTTGCGTACACCGTGCTCACAGTT CCATCCATAGAAGGAGGGGAGGCAGGCACAAAAGGACCCCAGCATGCAGG TTCCCCCATTCAGGCAGCAGGTTCTGTTTGGCTCCTTACTGTCCTGTATC CCCATGGGGGGCACAAGCTGGGAAGACCGAGGACGAATTGCAGGCTCCTC CTGGGGCTGAATGCTGTCATCTCTGAAGGCCAGGTCTCCCTGAGATGGAC GCACAAGTTCCCGATGGCTCAGCCTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	338	0.0030	-2377	c.-35 others(11): Show c.-3506_-1130del	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding		3447		chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130663371	CTGGCCAA others(2369): Show CTGGCCAAAGAATAAAATAGTGATTTCAACTAGGCAAGTTCAGCAGCAGA CAGAAAGCTTTTATTTCTTAAAATTGCCTTTTTTTCCACTGAAAACAGGA AGAAACACAACTAAGAGTAAAAATTAGGTTTATAAAAGTACAAAGTGCCA GAAACATAAATAGATGACTCACCAAAAAGACACTAAAATGCCACTCAAAA AATGAAAAGATGTTCAACTTCACCTGTAAGAAGAGAAATGCAAATGAAAA CTACACTGAGATACTCTCAAACTGGCAAGTTACCCAGCCTAGCAGCACCG TGACATGGGTGTCCCCAGACGCCTCTGAGTGGGGTAGGAGTCAGAACGGA ACTTCCCGCTGGGTACTTTAACGAAGTTTTGGGTTCACTGGCTTCCTGAC TGGCAACCCTGCTTCTAGGAATTTACCCTCAAGACAACATAAAAATGGCC TTTAAAGATATGCAAATACATATGCACAGGTTATTCCATACCGGTTTGTT AATAATTGTGAAATACCAGAAACAGCCTAAATGCTCACACATACGAGGCA GGTTGAATAAGCGCTGTCTTCACACAGCGAAGAACTGTGCAGGACCTGAG GAGGGGAGATCTCTGTGAAGCATTGTGGAGCAATTTCCAGGCTATATTGT GGGTTTTTTTTAAAAAATCTATTGTTTTAATTGACAAAAAGAATTGTGTA TATATGTATTGTATATCTATAGTAACCCCTAGGCTCAAAAAAATAAAAAT AAAAAAGAAGTGTCAACAAATACTGAACCCCACTTGGTAAAGTCTTTTCC CCTAGGATTAAGCAGATAAATATGTATGTTGCCTAAAATAGAATCCAGGT TTCTCAGTCTCAGAGGAGGGAGTTGAAATACAGAAAGAGGAGAGGCTGGA ATAAAACATGTGCGGTTAAACTGGATTTGAAGGCATCAAATAGAGATAAG TTGGAAATAGACACAGAAATACACACACACATGCACACACATATGCACGT GCATGCACGCACGCGCATGCACACACACGCACGCACGCACGCACACACAC GCACACACATGCATGCACGCACACACGCACACACATGCACGCACACACAC GCACGCACACGCATCACACACTCCCCATCCTGGCTCTGTCGACTACAGGA CCTGGAGGTCATGACACCTCGGCTGTCATGAGCACTCCTCACACCCAGAT CTTGATTTCTAAATATCACTCGCCACCCAGAGAAGCACGGGCTCCTTCAG GAAGGGGCTAACTCTACAGCTATGTCAGAGAAAGTATAGGTTGATCCTAC AGCATCTCATTTCATAGAAAGTAAAGAGGGACTCAGAAATGACAGCCACG TGTCCAAAAGACATGGGAACCAGCTTTGAAGGAGCTCCCGCTGACCTTTC AATTTCAGCTTTAAAATAATGGCAATAAATTTAACCTTGGAATAAAATAA GAATCCATCAGTCCATACTGATATAAATGAACATAAATAAAGGGGGGCGG GGCAGGGAAGGCTTTCCTGCCAAGGATGGGCCCATTCACAGAGGCCGGAG GGACAACAGGAAAACTGCCCCTTGTACTAATCAATCAACCGGAACAGCGA GCTGTCTGGACCAGAGCCGCCCTCAGCAGGTGTGAGCAGCATGCTGGAGT CCGACGAGGAACCAGAGTCTCCACTCACTCACCAAACCCTACCACAACTC CTGGCTTCACCAAACCCTACCACAACTCCTGGCTACGTGAAGAGGGGGCC CTGGGAATTTCACAGGAGAGCAATTCAACCATGTGATCAAGTTAACATCC CCAGTAACATGACATCCTGAAATCACGTGTTTCCTGATGCCATGCTCCGA GATGGAGGCAAATTCCTGAAAAAACACAACACCCCAGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGCTCAAGAGT TCAAGACCAGCCCGGGCAACATGGTGAAATCCCATCCCTACTAAAAATAC AAAATTTAGCCAGGCACAGTGGAGTGCACCTGTAGTCACAGCTACTTGGG AGGCTGAGGCAGGAGAATCACTCGAACCCGGGAGGCAGAGGTTGAATTGA GCTGAGATCGTACCACAGCGAGCCGAGATCACGCCACTGCACTCCAGCCT GGGTGACAGGGCGAGACCCTGCCTCAAAACAAACAAAAACACCCAAATCT AATTGTGAGGAAACATCAGACAAACCCTCCGTGAGGAACCTTCTGTAAAA CTACTGTCCTTCACTCTTCAAAAATGGTCCAAGGGAAGAAAGACAAGGAA ACATTACAGGTTAAAGGGGATTAACTGGACGCCACCAGTAAAAGTAGTAC CTGGTATTGGATTGGATCCTGGACCAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp2 HG02970.hp1 others(3): Show HG01243.hp1 HG02647.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0024 a0001c0032 others(3): Show a0001c0001 a0001c0024 a0001c0032 a0001c0049 a0002c0029 a0015c0046	a0001c0001t0001 a0001c0024t0001 a0001c0032t0001 others(3): Show a0001c0001t0001 a0001c0024t0001 a0001c0032t0001 a0001c0049t0001 a0002c0029t0001 a0015c0046t0004	a0001c0001t0001g0179 a0001c0024t0001g0170 a0001c0032t0001g0026 others(3): Show a0001c0001t0001g0179 a0001c0024t0001g0170 a0001c0032t0001g0026 a0001c0049t0001g0169 a0002c0029t0001g0012 a0015c0046t0004g0167	6	178	0.0337	-2376	c.-35 others(21): Show c.-351-37291_-351-34916del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
POGZ_chr1_151397724_151464494	151451167	AACCAATA others(2366): Show AACCAATAAACTACTGACTAATAATTCACATTAGTTATCAGCTGTTTTGT CTATGGCATTTTTTTGCAAACAAATACACAAGAAAAGCCAAAAACAATGT ATGAAGTATTACTGACAATAATATTTAACCTGAATCAAATCAATTATTTA TTTATTTTATTTTTTTTTAAATTTTTTGAGATGGAGTTTCACTCTTGTTG CCCAGGCTGGAGCCCAATGGCGCGATCTCAGCTCACTGCAACCTTCACCT CCTGGGTGCAAGCGATTCTCTTGCTTCAGCCTCTCAAGGAGCTGTAATTA CAGGCATGCGTTACCATGCCTGGCTCATTTTGTACTTTTAGTAGAGATGG GGTTTCATCATGTTGGTCAGGCTGGTCTTCAACTCCTGACCTCAGGTGAT CCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGGCACCG CGCCTGGCCCAAATCCATTATTTAAATGTAACTTTGCGTTTACAAGAAAT ACAGCAATAAAAGAACAAATTAAGTATCACCACAAAGAAATAATGAGATA AATCCAGAAGGTGGGACATTCTAGAAGGAAATAATCAAATGCAGAATATG GAACATTCTATAAAACTAATAGAAGTCTCTTTAAAAATGTCAATGTTCGG CTGGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGG CAGGTGGATCACCTCAGATCAGGAGTTCGAGACCAGCCTGACCAATATGA TGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTG GGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTG AACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCAATTGCACTCC AGCCTGGGCAACAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAGTCAATGTTGGCCGGGCATGGTGGCAGGCCAAGGTGGTAGGATT GCTTAAGGTCAGGAGTTCAAGACCAATCTGGGAAACAGAACCGATCCCTC TAAAAAATTTTTAAACAGAAAGGATAATCATATTATATTCATGTAGGAGA ATGTATTTATTCCTAGGAAATGCACAAAATATTTAATAGAAATATCTTGA AAGTGACTTTCAAGGGGTTAAGCAAATACATAGATATTTGGCTTTTTTTT TTGAGACAGGGTGTCATTCTATCCCCCAGGCTGGAGTGCAGTGGCACAAT CACGGCTTATTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCTGCCT CAGCCTCCCAAGTAGTTGTCACTACAGGTGGGCTATTTTGATATTTTCTT ATAGATACTAGTATGCCAACTTTCAAAAAATATTTGGCATGGGCCAAAAC ATTAAAAATCATCCTGTCACCAGGCGCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAATGCAGGCGGATCACAAGGACAGGAGTTCGAGAC CAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCATGCGTGGTGGCTGGTGCCTGCAGTCCCAGCTACTCGGAAGGCTGA GGCAGGATAATCGCTTGAATTCGGGAGGCAGAGGTTGCAGTGAGCCAAGA TTGTGCCACTGCACTCTAGTCTAGGCAACAGAGCGAGACTCTGTCTTAAA AAAAAAAAGTCACTCTGTCTAGGTGGTGGATAGTTTAAGTGTTCCTTGTA GAATTCTTTCACCCTTTTCTTTTTTCTTCTTTTTGTGATGGAGTCTCGCT CAGTTGCCCAGGCTGGAGTGATCTTGGCTCACTGCAACCTCCACCTCCCA GGTTCAAGTGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACATG CATGCGCCACAACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTT TCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCC ATCTTGGCCTCCCAAAGTGCTTCGGTTACAGGTGTGAGCCACTGCGCCCA GCCTCTTTCTCCCTTTTCGCATGCGTGAAATTTTCTTAATAAAAACTGAG GTGGGGTAGGAGGGAGTGGAACTACCTACTCATATCTTAGCTGTGATATT CTGTACTGCTACATTCCACCTATCTCTTTGGTATTTACTAAATAACTGGT AGCCTTGTTGGTTGAATTTCTTGATTTATTCCCAGGACCAATTTTCATGT AGCTTGTATATATACATTTCTCTTTTTTTATTTTTATGCATCCATTTTCA CTTAATATACATTTCTTAAGACATAGCAAAATAGTTAAATAAGAAATAAC AAATTAAGGTGGATTATGTAGGCT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01346.hp2 HG01952.hp2 others(3): Show HG01069.hp2 HG01346.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 others(3): Show a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0005g0210 a0001c0002t0005g0216 a0001c0002t0005g0217	6	318	0.0189	-2373	c.-2+ others(15): Show c.-2+5612_-2+7984del	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	1/18			chr1	TogoVar
DAZ2_chrY_23214533_23296356	23247631	GGAGAGTA others(2365): Show GGAGAGTATTACCTCCAACTCACCGGAGCTGCTTTCCCCCTTATAAGCAG TTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATT CTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCTTTATTTGAAATGATTG CCACATGCCTCCTCATATAAATGGCTGACTTCTGGATATATTCTGGTTCT GGAATGGGCAGATTTCTGACGTGGTTTAGTATATATATATAAACCCGGTG AGTTTCTGGCATGTAATTTCTCTGATCGTGGTTACATTGATATTTAAAGT AGGGTTTGACATAGTGTGTCACTTACTGTTGATAAATATCGTTTATTTTC TTCTTAGTTCATTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGAC AGAAAATGAAGTAATGAAATAATAGTGAAATCGTTCTGCTGTGTCTCTAA TTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTT TTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCG TTTACTGTGAGGCATTAGTGATTCTGGGTGTATTCATGTATGCTGCTAAC TGTATGTTTTCAAACAATAAGAATTTGTTGAAACATGTCAGACATTATAC TTTTTATTCTCCAGTATTGGAATATAGACTGCAATTAGTTTTTTGGAATG AAATACAGACAAAGCCATAACATCTATAGAACTACATATTACCCTACAAT ATTGTCTGATACAAAACAGTCTGGAAATATTCTTACAGCGAAATTGCAAA TGTATTGATTTACCTTACATTGCAATCTGTCTTAGTGGAACCTTATCACC AGTGTAAGACATAATTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAA TTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTTCCCCCTTCACACCCAA AGTGTAGCACTTGACATAGAATCTTTCTTTCCTCATAAAGTCATTCATTT GGAATTCTGCATTGTTGTATGTAGAAAAAGGATATTTTCCGTTTTGTAAT ATTTTTCTTATATTGGGAATTATATTTCTTTCTAATTTTAAAATGTGGTT TACCATATTCATTTTTTCTGCAACCTTTTCAGGCATTTCCTGCTTATCCA AATTCACCAGTTCAGGTCACCACTGGATATCAGTTGCCTGTATACAATTA TCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCTTTCAGGTATTATTGAG GCCTTTAACTTGTTTATAGAAATTTCCTGAATAGTTGGTCATTTTTAACT AGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTAGTGTAGAATGAAGACC TCTGTCTTATTTAGAAGTAATGAAGTAATATTTTTACAGGAATATCCTTG GCAATAACATTTGTGTAGAAGAGATTTCTGAGATTTGGTGTCCCCTTCTT CATTTGTGGATATAGTTTTCATCTTTGCTGTCAAATAGCTGAATGAAACA TCCAAACTGACTTTCATGAATTTTTTTAGGGAGATAGAGTGAAATAAAAT TATGATCCACTTTTCAGAGCACAGAATTCCAATTATATTTTCATTTTAGC TGGCTGTTTGACGGTAGTCATTCTCAGGATCTCTTCTCATAGATACAAGT ATATCTATGACCCATAACTATATCTATGGTAATAAACTGAAAGAGCTAGT ATTTTTGAGGTTTCCACATTGCCAACTCCCAAAAATTTGGAGAAAGGTGA AGATTCAAATTTAAAGTAACAAGAATGTCATGGACAAGAAACATAAAGTA CTTAAGTTTTCCTTTCTGTTACTTTTATTATAATAAAAAAGGAGACAGCG GAATAAGTACTTCAATACTGTGTTTCTCATGTGTGTTTGAAAATATGTAG GAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTTTTTTTTTTTTTAAAGA TGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTGTCCTTGAC GTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTT CCATGTCCTATATGCCTATAAATATTTTTAAGTGATTCTTTATATTAATT TTTTTGTCGTTGTTACTTTCTTGTTAACCCGATTATGAACTCCCATGGGA GCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTATGTGCCTAAGCAATGGCA GGTCCACATAATGATAGACTATATAATCACAGAAAAGTAGTATTCACTTG ACTTTAGAATTATCACGTATCTGCCAATAATCTGCCTCTGGCTTTACCAG CAATAGAAAATTTATAGAAGAGAAACAGAATTGCTTTGCTGTTAATGACG CTTAAATAAGAACAGGAGTGAAC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01243.hp1 HG01261.hp1 others(5): Show HG00738.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01934.hp1 HG03139.hp1 HG03579.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0034 a0002c0002t0001g0003 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0034 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0043	8	52	0.1538	-2372	c.107 others(19): Show c.1075-1114_1147-1125del	DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	15/28		INFO_REALIGN_3_PRIME	chrY	TogoVar
C11orf65_chr11_108377755_108472529	108449203	TACTGCCC others(2364): Show TACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCA ATGACTTTCTTCACAGAATTGGAAAAGACTACTTTAAGGTTCATATGGAA CCAAAAAAAGAGCCCACATAGCCAAGTGAATCCTAAGCCAAAAGAACAAA GCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGT AACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGA GCAGAACAGAGTCCTCAGAAATAATGCCGCATATCTACAACCATCTGCTC TTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAA TAAATGGTGCTGGGAAAACTGGCTAGCCATAGGTAGAAAGCTGAAACTGG ATCCCTTCCTTACACCTGATACAAAAATTAACTCAAGATGGATTAAAGAC TTACATGTTAGACCTAAAACTATAAAAACCCTGGAAGAAAACCTAGGCAA TACCATTCAGGACATAGGCATAGGCAAGGACTTCATGTCTGAAACACCAA AAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTT AAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCGACC TACAAAATGGGAGAATATTTTTGCAACCTACTCATCTGACAAAGGGCTAA TATCAAGAATCTACAATGAACTCAAACAAATTTACAAGAGAAAAAAAAAC CCATCAAAAAGTGGGCCAAGGATATGAACAGACACTCCTCAAAAGAAGAC ATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCTGT CAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCATACCAGTTA GAATGGCGATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGT GGAGAAACAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGCACGGCAATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATACACCCAAAGGATTAT AAATATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAAT AGCAAAGACTTGGAACTAACCCAAATGCCTAACAACGATAGACTGGATTA AGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAT GATGAGTTCATGACCTTTGTAGGAACATGGATAAAACTGGAAACCGTCAT TCTTAGCAAGCTATGGCAAGAACAAAAAACCAAACACCACATGTTGTCAC TCATAGGTGGGAATTGAACAATGAGAACACATAGGCACAGGAAGGGGAAC ATCACACTCCAGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCA TTAGGAGATATACCTAATGCTAAATGATGAGTTAATGGGTGCAGTACACC AACACGGCACATGTATACATATGTAAGAAACCTGCACATTGTGCACATGT ACCCTAAAACTTAAAGTATAATAATAATAAAATTTTAAAAAAAAGCCTTA TCCACCATGATCAAGTCGGCTTCATCCCTGGGATGCAAGGCTGGTTCAAC GTACACAAATCAATAAATGTAATCCAGCATATAAACAGAACCAATTACAA AAACCACATGATTATCTCAATAGATGCAGAAACGGCCTTCAATAAAATTC AACAGCTCTTCATGCTAAAAACTCTCAATAAACTAGGTACTGATGGGACG TGTTTCAAAATAATAACAGCTATTTATGACAAACCCACAGCCAATATCAT ACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGAC AGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCGG GCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATTAGGAAGA GAGGAAGTCAAATTGTCTCTGTTTGCAGACGACATGATTGTATATTTAGA AAACCCCATCATCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCA GCAAAGTCTCAAGATACAAAATCAATGTGCAAAAATCACAAGCATTCCTA TACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATT CACAATTGCTACAGAGAATAAAATATCTAGGAATCCAACTTACAAGGGAT GTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACAAAATAAA AGAGGACACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAA TCAATATTGTGAAAATGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG06807.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	328	0.0061	-2371	c.81+ others(16): Show c.81+9905_81+12275del	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	2/8			chr11	TogoVar
NUP160_chr11_47773118_47853350	47819572	CTTCATCA others(2364): Show CTTCATCAATTCTATTAAAAACATTTTTTTTTAAATAAGAAAGAAAGAAA CATTTTTAGCAGAGCCTAGTTTTTATACAAGTTTGCTTACCATGTTTTAA TAATTATCTTCCTAAAATTGAAACTCATTGTTTCAGATCTCAAGCCCATA ATCTTTAATGTCATTTTAACACTAAGGCATCAAATACAAAGAATAACTAA CTTTTATTCTGCATTTATTATTTGCTAGATATTATGCTAGATGCAGTTTT AGACATTATTCATGTATGCCTTATAATTCTTTGAAGGATATAGTACTCCC ATTTCACAGATGTACACAGTGAGGCTGAGGGTATATCACAGCTAGTAAGT TGCACAACTAGGATTCCAACCCTGCTCCAACTCTGCAGCCTGTGCTTTCT GACTACTTTGCTCAAATGCCATCTACAAGGAGTGCTTTTTTTATCTTCCC AGGTATGGCCTGAGGTCAATCTGGAGGGCAATCATTCCCAGAATTCTACC TTAGGCTCTAGGGTTATCAGGGACCCAGAGGGTTCAATTAGTTCAGTGGT CTTCAAGCTCTGTCCCAAGGGAGCCTCTACAGATGTTTCAGGGGTTAGAC AAGTCTTTGCTTCAAAATGGTTTGTTTTTTATTTTTGGCCAAATTTAGCA GTGGAGGGCTGTATGCCAACTTTAGTGACACTAATGTTAAGTTCTGACAA TCCATTATCATGGGACCAGCCAAAAATTGTTTTGTAAAATGTATTTTTAA CTACCTAAGGCTTGCAAACTAATATCATCTACATTAAAAAATATTAGATA CCAAATATATCTAACATTAGGTACAATCAACATTAAATTGTGTTATAATT TTATACTCATAAAATACTACACATTCATAGCTCACTGAAGCCTGAACTCT GAGGCTCAAGCAATCCTCCTGCCTCAGTCTAATAGGGTGCATCGTGCCAC CACACCTGGCTAGTTTATTTTATTTATTTATATTTATTTATTTATTTTTG AGATGGAGTCTCACTTTGTCGCCTAGGCTGGAGTGAATGGCATGATCTTG GCTCACTGCAACCTCCGTCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGC CTCCTGAGTAGCTGGGATTACAGGCACATACCACCACGCCCGGCTAATTT TTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTC AAACTTCCAACCTTGTGATCTGCCCACTTCAGCCTCCCAAAGTACTGGGA TTACAGGCATGAGCCACCGCACCTGGCCACTAGTTTATTTTTTATAGAGA CAAGGTCTTGCTATGTTGCCTGGACAGGTCTTGAACCATGGCCTCAGGCA ATCCTCCCACCTTAGCCTCACAAAGTGCTTGGATTACAGGTATGAGCCAC TGTGCCCAGCCCTGTTTTAAAATAAATTTGAGAAGCACTGCACTTGTCCA ATCTATTTCTCATCTCATGATGAGAAAATTGAAAACACAAAGGCTATAGT ATCCTAAGGAAGTTGCAGGAATCAGGAATAGTCTTAGCTTAGAAACAAAG AAAACTCCCAGATTAGAGGTATTTTGGATATGTGCTATCTCTCCCAAGAA ATATGACATTTTATCTTAGTCCAACCCCCAAAATTCTCATTTTGTCCTAA AACAAAAATGTAAAAAATAACACAAAATGCACAAGAGGTATTTCAGGAAG ACAGTAACAAGACGAAAACCCAGGGCTGAATTATTCGAATGAAAACCCTT GACTTGGTTCTACATAAAAAGCTCCCTTGTCTTTTTTTTTTTTTTTTTTT TTTTGAGATAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGAGCA ATGTTGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCGATTCTCATGC TACAGCCTTGCCTCCCGAGGAGCTGGGATTATAGGCACCTGCCACCAGGC CCAGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCTGTTGCCCAGC CTGGTCTCGAACTCCTGAGCTTAAGTGATTTGCCTGCCTCGGCCTCTCAA AGTGTTAGGATTACAGGCATGAGACACGGCGCCCGGCCTCTCGTCTTCTT AGCATGAAATTGCTTGGGGTGAGGTAGGATGACAGAATTAAGTGACCCAT ACTGTTCAAAGTTGATGTATTTCACTACTGTTTGGTTCTCAGCATCATGC CACAGGGCCCAGATATCCGTGGAAGTTAAGGCAAAGTCAATCAGTGTCTC CTAGGAGGAAATGTGGGAAAAAAAGGGATAAAATAAGAAAGAAAGTAGTA GTTCACGGTGACTTACTTTTTCATCAGTAGGAGAGGTAAATGTATGAAAA CAAAACATGGTACCACATGAAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18949.hp2 NA18949.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0175 a0008c0011t0001g0175	1	336	0.0030	-2371	c.107 others(17): Show c.1078-122_1176-115del	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	9/36			chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34628302	AAAACTCT others(2363): Show AAAACTCTTCAAAAAATCAATGAATCCAGGAACTGTTTTTTTGACAAGAT CAACAAAATTGATAGACTGCTAGCAAGACTAATAAGAAAAGAGAGAAGAA TCAAATAGATGCAACAAAAAATGATAAAGGAGACATCACCACCGATCCCA CAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTACACAATA AACTAGCAAATCTAGAAGAAATGGATAAATTCCTGGACACATACACCCTC CCAAGACTAAACCGGGAAGAAGTTGAATCCCTGAATAGACCAATAACAGG CTCTGAAATTGAGGCAATCACTAATAGCCTACCAACCAAAAAAAGTCCAG GACCAGACAGATTCACAGCTGATTTCTACCAGAGGTACAAAGAGGAGCTA GTACCATTCCTTCTGAAACTATTGCAATCAATAGAAAAAGAGGGAATCCT CTCTAACTCATTTTATGAGGGCAGCATCATCCTGATACCAAAGGCTGGCA GAGACACAACAACAAAAAAAAGAATTTTAGACCAATATCGTTGATGAACA TCGATGCAAAAGTTCTCAATAAAATACTGGCAAACCGAATCCAGCAGCAC ATCAAAAAGCTTATCCACCACAATCAAGTTGGCTTCATCCCTGGGATGCA AGGCTGGTTCAACATATGCAAATCAATAAACGTAATCTATCATATAAACA GAACCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCC TTCAACAAAATTCAACAGCTCTTCATGCTAAAAACTCTCAATAAACTAGG TATTGATGGGATGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGGTAGGGATGCCCTCTCTCACCACCCCTATTCAACATAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGAAGAAAGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGCCCCTGTTTGCAGATGACATG ATTGTACATTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAAAT CAAGCATTCCTATACACCAATAACAGATAAACAGAGAACCAAATCGTGAG TGAACTCCCATTCACAATTGCTTCAAAGAAAATAAAATACCTAGGAATCC AACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTG CTCAATGAAATAAAAGAGGATACAAACAAATGGAAGAACATTCCATGCTC ATGGGTAGGAAGAATCAATATCGTGAAAATGGGCATATTGCCCAAGGTAA TTTATAGATTCAATGCCATCTCCATCAAGCTACCAATGACTTTCTTCACA GAATTGGAAAAAACTAAAGTTCATGTGGAAGCAAAGAAAAGCCCACATTG CCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCT GACTTCAAACTATACTACAAGGCTACATAACCAAAACAGCAAGGTACTGG TACCAAAACAGAGATATAGACCAATGGAACATAACAGAACCCTCAGAAAT AATGCTGCATATCTACAACTATCTGATCTTTGACAAACCTGACAAAAAGA AGAAATGGGGAAAGGATTCCCTATTTAATAAATGGTACTGGGAAAACTGG CTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTAAAC AAAAATTAATTCAAGATGGATTAAAGACTTAAACCTTAGACCTAAAACCA TAAAAACCCTAGAAGAAAACCTAGGCAGTACCATTCAGGACATAGGCATG GGCAAGGACTTCATGTCTAAAATACCAAAAGCAATGGCAACAAATGCCAA AATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAG AAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTT GCAATCTACTCATCTGACAAAGGGCTAATATCCAGAATTTACAATGAACC CAAACAAATTTACAACAAAAAAACAAACAACCCCATCAACAAGTGGGCGA AGGATATGAACAGACACTTCTCAAAAAAAGACACTTATGCAGCCTAAAGA CACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAA AACAACAATGAGATACCATCTCACGCCAGTTAGAATGGCGATCATTAAAA AGCCAGGAAATAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTT TTACACTGTTGGTGGGACTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0041 a0001c0001t0053g0041	1	368	0.0027	-2370	c.-20 others(23): Show c.-2031-34078_-2031-31709del	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
FSTL5_chr4_161378897_162169000	162054120	AGGTTAAC others(2361): Show AGGTTAACTGTAAGTATTCAGGATGCATTTATATTAGAAAATTTAGTATT ACTATTCACCATCTAAAAAAGAAATTGATCATATTAATATATGCCCAAAT ATGCACAAGTAAATATCTACTCACTGAAAAATATGAATAAATTAGCAAAC TAGTAACACTCTATTGAGAACATTTGTCAACGTGTGAATAGAATCCTGCA GAAAACACTTCACTTTATGATGAAACATTAGATGCATTCCACTTAAAATC AAGAATCTGGCCATGATATTCACAATCCATATTTCCATTAAACAACTTGC TGGCAATTTCAAACATTACAATGATAATAAATAAATAAATTGTATAAGGA CAGAGAAAAAACGAATGACATTACCACTATTTGATAAAGTATATACTTGT TAATATAGAAAACAGAGTTAAACTTTAAACTTTAAATGTAAGAGCAAGTA AAAAAATGAAAACAAGAGGCTTAATTCTCCCTGTTGAAAATAATGGAACA GATTTCCCATCACTCTCTTTTCTTAGAGCATTTACTTTAAAGAAACTTCT AATCATAAGTTCTTTTTGTGTCTTTTTGAAGTGTGTACAACTCTTTTTAA AAGCTAAATAAGCCATTTGCCAGCTTGAAGACAAAGGAGTATCTTTTTCA AGGACCTGGGTAACGTGTCTGAAATGTAATGTTCAGGGATACAGTGTACC TGTATCCCAGTTCCTCTGGGAGAGGAGGAGCCTAACTTCATTACAAGTTG CAAAACTACCTCCAAGTTGCAAAACTACCTTTTGTCCTAAAGACATAAGA AATCATTTTTTCCTTTTAATAAAGCCAATTAGTTAACACAGGTAGTCACC AACTCAATTGTGGATTAACTCTGTGACAAATGGTGCTGTCAAATCCAGTT ACTTGATAACTAGTTATTGTTTTTGTGGATAGCATGTATGAGATGGGCTG TATTTGCTTGGTTATAGAAAAGGGTAAATTTTATTTCTGCTTTTTCATGT CTTAGTGGATTGCCTATGATGTGCATCAAATTGTTGTTTAATGCTTATTT AATAATAAAACCACTTCTTTTTCATCTACTTTGTATAGAGTTTTGCCTGG TTGTGAGATTTAAAAATATATATATTTTCTTAACAATTCTCATAATTAGT ACTATAATTCAAAGAGCAATTTGATCAATATATACAAATGAATTACATGC TTATATACAAAGTATATATTTAATACAACTCTAAATAAAATACCATTATA ATAGTAATACTATATACAGGAATACATTTAGCAAAGTATCTGTAATATCT CTGTGAAAATACTCTTTATGGAAAGTATAATAAATAGTACTGAAAGACAT TTAAAAATGTATCTATTGACCCATATATATAAATAGATAGATGATAGATA GAGGATGATAGATAGATAGATAGATAGATAGATAGATAGATAGACAAATT GTAAGGCAATCAATATATTAAGCATCTTAATTCTCCTTAAATCCAACTGT ATTTCAAACAGAATGTTAATTTTTTCATTGAAACATTTGGAAGTGTGATG ACTAAGAACTGATAAAACAATTTTGGAGAAAAAAAGGTGGAGAGATTTAC TATGTATCAAAACTTCTTATAGTTTTTACTACTATGAATAGGCAGATAGA CAGATTGCTAAAATGGAGACACAAGAAATACAATATGGCATATGCAAGTT ACAAATGTGGCACTGCAAGTCACTGGGGAAAGGATAAATTATATAATAAA TGGCACTTGAACTTTTATATATTCATGTAGATAAAAATAAAATAGACTTC TGCATCAAACAATACAGAATAATAATATTTAGTTCAAAGATCCAAATATA AAAAACAAAACTCTTAAATTTTTTGAAAGCTAATATATGCTTCTATATAA CCAAAGAGTAAGAAATAATTTAGTAAACAAATACTAAAAATGAAACCCTG TAGAAATATTGATAGTTACCAAATTTAAAAATATGTGTGAATTAATGATG TGAAAAGACAAGCATACATTGGAAAAAAACATTTGCAATGAATGTCACTA TAAAGCTTTAGTTCTCAGAATATATAAAGCACTAAAAATCAATTTAGAAA CAAAGAATCCAATGGTAACAAAAATGGGTTACATATATGAATGGGACCAA GAAAGAAACTAGAATCAATGCTGATGATTTTCATCAGATGATGAGTAATA TTTTTGTTGGAGAAAAATCAGTAACCCATTTCTAGAGTAATTTGTAAGCA CTAACTATATTTTAGCATGCAGGTATTCTTGGAGATAGCAAATCCAGTTA TGAGGGTGTGTCCTAGGGTAATTTCTGTACACTTGAAAAAATGTATAAGA ATGTTCCTAGCAGCATTGT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG03098.hp1 others(1): Show HG02559.hp2 HG02717.hp1 HG03098.hp1 HG03486.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0006 others(1): Show a0001c0001 a0001c0003 a0004c0006 a0005c0007	a0001c0001t0002 a0001c0003t0002 a0004c0006t0002 others(1): Show a0001c0001t0002 a0001c0003t0002 a0004c0006t0002 a0005c0007t0001	a0001c0001t0002g0007 a0001c0003t0002g0008 a0004c0006t0002g0001 others(1): Show a0001c0001t0002g0007 a0001c0003t0002g0008 a0004c0006t0002g0001 a0005c0007t0001g0096	4	140	0.0286	-2368	c.127 others(19): Show c.127-22830_127-20463del	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	2/15			chr4	TogoVar
C11orf65_chr11_108377755_108472529	108449989	CCTCAAAA others(2360): Show CCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCA TCATCACTGGCTGTCAGAGAAATGCAAATCAAAACCACAATGAGATACCA TCTCATACCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGT GCTGGAGAGGATGTGGAGAAACAGGAACACTTTTACACTGTTGGTGGGAC TGTAAACTAGTTCAACCATTGTGGAAGTCAGCACGGCAATTCCTCAGGGA TCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATAC ACCCAAAGGATTATAAATATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACTAACCCAAATGCCTAACAAC GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATGACCTTTGTAGGAACATGGATAAAA CTGGAAACCGTCATTCTTAGCAAGCTATGGCAAGAACAAAAAACCAAACA CCACATGTTGTCACTCATAGGTGGGAATTGAACAATGAGAACACATAGGC ACAGGAAGGGGAACATCACACTCCAGGGACTGTTGTGGGGTGGGGGGAGG GGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGATGAGTTAAT GGGTGCAGTACACCAACACGGCACATGTATACATATGTAAGAAACCTGCA CATTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTT AAAAAAAAGCCTTATCCACCATGATCAAGTCGGCTTCATCCCTGGGATGC AAGGCTGGTTCAACGTACACAAATCAATAAATGTAATCCAGCATATAAAC AGAACCAATTACAAAAACCACATGATTATCTCAATAGATGCAGAAACGGC CTTCAATAAAATTCAACAGCTCTTCATGCTAAAAACTCTCAATAAACTAG GTACTGATGGGACGTGTTTCAAAATAATAACAGCTATTTATGACAAACCC ACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAA AACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAG TGTTGGAAGTTCGGGCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTA TTCAATTAGGAAGAGAGGAAGTCAAATTGTCTCTGTTTGCAGACGACATG ATTGTATATTTAGAAAACCCCATCATCTCAGCCCAAAATCTCCTTAAGCT GATAAGCAACTTCAGCAAAGTCTCAAGATACAAAATCAATGTGCAAAAAT CACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATG AGTGAACTCCCATTCACAATTGCTACAGAGAATAAAATATCTAGGAATCC AACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTG CTCAACAAAATAAAAGAGGACACAAACAAATGGAAGAACATTCCATGCTC ATGGGTAGGAAGAATCAATATTGTGAAAATGGCCACACTGCCCAAGGTAA TTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACA GAATTGGAAAAGACTACTTTAAAGTTCACATGGAACCAAAAAAGAGCCTG CATTGCCAAGACAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGC TACCTGACTTCAAAGTCTACTACAAGGCTACAGTAACCAAAACAGCATGG TACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAAAGTTCTC AGAAATAATACCACACATCTACAACCATCTGATCTTTGACAAACCTGAGA AAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAA AACTGGTTAGCCATAGGTAGAAAGCTGAAACTGGATCCCTTCCTTACACC TTATAAAAAATTAATTCAAGATGGATTAAAGACTTAAACGTTAGACCTAA AACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAG GCATGGGCAAGGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAA GCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGC AAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAA TTTTTCCAATCTACCCATATGACAAAGGGCTAATATCAAGAATCTACAAA GAACTTAAACAAATTTACAAGAAAAAAATCAAACCACCCCATCAAAAAGT GGGCAAAGGATATGTCTT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	328	0.0030	-2367	c.81+ others(16): Show c.81+9123_81+11489del	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	2/8			chr11	TogoVar
GAL3ST2_chr2_241771822_241809287	241805283	ACCTTCCC others(2360): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGAC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCC CAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCC CCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	293	0.0034	-2367	c.11 others(11): Show c.1118_*3484del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		997		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805283	ACCTTCCC others(2360): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGAC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCC CAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCC CCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	303	0.0033	-2367	c.-39 others(11): Show c.-3994_-1628del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3909		chr2	TogoVar
MSRA_chr8_10049292_10433891	10337401	GATCTCCT others(2355): Show GATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCACGCCCGGCCAAGCCTATGTCGCTTTTAAGAT GAATCCAAAAAGACTGTGTGCTACTAGGCTACAGAAAGCAGCATTAAGTC TGATATACATCAATCCATGTTCAAGCAGATTCCTCTCTGTCTCTGGAAGT TGGTTAATTTTTCTGGTCCTGATATTGGATATTGTCACATTTTCCTTGAT AGTGTCATCCGGTGAATGATTTTTCATCTTGAACCTTATACTCCTCCTCT CTCGGCAGCTGGTGCTTCCCTGTTCTTCCTCAGCCATGCTGGGGCTCACT GCAGCCTCCTCTGCTCAACTCGCCTGGGTGCAGCCATCTTCAAGAAAACA TTATTAAAGCAATATTATTAGTATGCAGCAAGGTGCCTTCTTTCTGCTAA ATCAGTTTGTAAAGTGGTCCTCACAAATGCACACATTCTTTGTTATGACA GCAGGGCTTCGTGTTTCTGATGCAAGACTAATAAGACTTGGAAGTAGGGA GGTAAACTGGGTGGCCCAGGAAAGCAGGGGTTAGGGGAGTTGATAGAAGA TATGAGAAATGAACCTAAGGGGTGATCAAAGAGCAGCCAAAGAAAAAAAT ATCCTTAAGTGGGAGAAAAAGGCAAATAGGACGTGTGAGGAATTAGGCAG GAGTAGGAAAGAAAACTGTGAACCACTGTATGCACACTTGTGTGAAAGAG GAACCTAGGAAAGTGAGCCCCGAGAAAGCAATACTAGCAGAAAGCAAAAG GTGCTCAAGAATCATTGTGTTGTTTATGTTGAGTGAAATAAGGCAGGCAC AGAAAGAAAAATACCGCATGATCTCACTTATATGTGGAATCTGAAGAAGT TGAAATCCTAAAGCAGGGAATAGAAAGGCCAGAGGCCAGGGTGGAGTGGG GAAGGGAGGAGGAGTTGTTGGTCAAAGGGTGCAGAGTTTCAGATCCACAG GAGGAATAGGGTTTGAGATCTGTTGCACAGCAGGGTGACTGTAGTCAATA ATGTAGTGTATATTTCAGAATAACTAAGAGCACATTTAACACGTCTCACC ATAAAAAAACAATAGGTAAGTGAAGGGTTGGCTTTGCTAACTGGCTTCAT TTGATTATTCTACATTGTATGCATATATTAAAACATCATGCACTCCATAA AGATATACAGTTAGGATTTGTCAATCAAAAATAATAATAAAAAATTTAAA GAAGAATTGTATAGAAAGAAAAACCTTTCAGGATTGAGAAAACTCTGTGA AGAAGTCACATAGAAATTCTCCAAGAAGTGCCACCTGTGTACTGAAAGCC CCTTTAATGGACTTTTGTGGTGCTTTGGTGATTCATACAACTTCAGACAA ATAATTTCCTAACCTGCAAAACTGAGCTAGCAACCCTTGCCCTGATCACT CTCTTTGGGGGTGTTTTTGAGGCTCTAGGGAGCTGATGTGCGGGCAAAGG TTATAATCCAGAAAATGCTCTACAAATTTAAGTAAGGTTTTGGCAGAATT GGGTTGTGGGGAGCAAGTGCCAGGCCAGTTTCCAGTCCTTGCCAAACTGC ATTTTCTAAGTGATGAAAGATCTGGCATTTTATTCTTTTCCATTTTTTAA TTCACTGGGTTTGTTCCCTTGTTCTTATGAACCTTGACTGCAGAGATAAG TTGACAGTGGCTGACAGATGAAAATTTTCATTGATCTCCTCTCTGGTCCC TGCCTTTCCTAGCCCCTTGGCTTTGGAATGAAAACTGTAAGTCAGGGACA CCCACGAAGCGATGATGTTGGAGTTGCAGTTTGTAAAACTCTTACGTTAC CATCTCTTTATCTGAGCATGGAGACAGGCCCTTTCTGTAACTTTTCTGGC TAAATAACTTTTCTTCAGAAGGCAACTCATGTTTGAAATTAGACTTGACC TTGTTTCATGAGTTTCCAAAACTTATGATTCAGGTCCACATTGGCTGCTT TTGAATTGGATCTATTTAGATGTCAACATGTACAGCACAAGTACAATGAA TTCAGTGTCTGTCCTGTTCTTCGTGGTCAGGATTTTTGTGTTTGTTTTAT TCCCTGTTAAGCAAGGGGTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTCTGAGACGGAATCTCGTTCTGTCGCCCAGGCTGGAGTGCAGTG ATGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGACTAGGTGGGGCTACAGGTGCCTGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGC CAGGCTGGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	284	0.0035	-2362	c.543 others(19): Show c.543+17433_543+19794del	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1402205	TGAGTCGT others(2354): Show TGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTTCTCCTGAG TCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTAT TGCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAG TCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAG AACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCA CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCG TCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGA AGAGAGTGTAAAATCGCTGATCACTCCAGGTGGTGAAGGGTGGATGTGAA GTAAGGAGATTAAGGCGACTTACTCGTCGTCCTGCGTAGTGAAGAGATTG TAAAAAGAGGGCTACATCCAAGTCCTCATGCGTGGAGGATGAATTGAGAA GATCCCCCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGC CACTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTT GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTT ACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGA GTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCGTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	-2361	c.107 others(19): Show c.107-99120_107-96760del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
STAU1_chr20_49108339_49193334	49142281	TTTCGTCA others(2354): Show TTTCGTCATGCTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGATCC ACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTG CCCAGCCAAAAAAAAATTTTTTTAAATAACAATTTATACTAACGAAATGC TCCTTTTCTATTTTATATACATGTATCAAGGTTCCACGTAAGACTGATAG AAAACAATGGGTCTACTGCTCCGTTCTACACCCTAAGCCAGTGGTTCTCA ACCACAGCAGCACTACAATCACTTGGGAGCTTCACAAGTTCAGATTCTGG AGCCCGCTCCAGACAACTGAACTCAAATTTTTGAGGGCATGGCCTGGATA GCAGTTTTATTTATAGTATTTGTTTATTTTTTAAATAAGTCCCCAGGTGA CTGGAGTTGCGATTCACTGCTCTAAGCCATTGCTTCCAGAGGAGTATCAT TAGGAACAAAGCAGCCAGTAAAATAAAAATGCAAAAAAACATATTTGAAA ATGAAATTATTTTGCTCTTTTACACAATTTTTTTCTTTTGAGACAGGGCC TCAGCTCTGTGCCCTCAGCTGCAGTGCAATGGCATAATCAGAGCTCACTG CGGCCTTGATCTCCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTCAT TAGCTGAGACTACAGGTACATGCCACCATTTCGTTTTTTCAAATATTTTT GGTAGAGATGAGGTCTCTCCATCTTGTCCAGGATGGTCTCAAACTCCTAG GCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTACTGGAATTATAGGA GTGAGCCACCGTGCCTGGCTCATTAAAAATTTCCTATTATCCAGACTGAC AAAATGTTCCAAGTAGGGAGGCAGCAAATGGTTCAAAACTAATCTACAAA AACCATTCCCAGTAAAATGAGGAAGGTTTAGTGGGCACTTAGTCTTATCT TCACAATGTAGGAATTACTGTTAACACTGATTCCATAGTGTATAGTTCAG CAATAAAATCTAGGCAACATTAAGAAAGAGGCCAGGTGTGATAGCTCATC CCTATAATCTCTGCACTTTGAGAGGCCACGGTGGGCGGATCACTTGAGCC CAGGAGTTCAAAACCAGCCTGGGCAACATGGCAAAACCCGCATCTCTACA AAAAATACAAAAACTAGCCAGGTGTGGTGGCATACACCTGTAGTCCCAGC TACGAGGGAGACTGAGATGGGAAGATCACTTGAGGCCAAGAGGTCAAGGC TGTAGTAAGCCACAATCGTGCCACTGCACTCCAGCTAGGGCGACAGAGGA AGACCCTATTTCAAAACAAAACAAAACAACAGAAAAGAAAGAAATGCTCT GAACCACACTTAACCCTCACAGTATGCTAGGAAAATTAGCCATCACCATT TATTATCTGGCTCCAACAGACTCTTCTGTTTTTCTATATCTAAAGTCATT TTACAAATAATTTACCAAATAAAAGGATGACAAAAGCCATTTTATTAGAC ATTTTAATAAGAACTTAAACACAGCAAACCCAGCTTCTTATCCCAATGTT TCTAATTTGGAAGGCATATATACCTGAAAAAAAGCAAGGTCCTCTATATG CAACTAACTGCTCATCACCTGATGCACCTGCAGCTGGGGCACAGCCCACC TGTAGCGATGTCAGATTCCAAGTCCATCTCCAACAGGTTCTAACTTAACA GGACTTCAGATTCTTCGTGTACTGGCACTGTCAAACACACTACTTTTGAA ACAGACTCATAATTCTGTTGAAGAGAAAGCAGCCATTTCCTTGCTCCATT AAGTGCAAAATGCTTTCATTTTTGGATTATAAACACCAACAGAAGGATCA ATCCAGTTATTTTTGTCATTTTTATATCTATTTTCTTCCAATCACCTTTG GACACACACCTCCTTGTGCATTTGTCCAGTTATTTTGTTGACAATAAGTG GTAAGAAATAAATGTTGGCGGCCAAACATAAAAGATAAAAGAATGTTGTC ACACGTACTTTTTTTTTTTTAAATGCAAACAGGATGGGAGAGGTTCTTGT CGAAAAATGTTGCATGATGAAGTCCTTTCTGTTGAATGACTAGATGAGAA TATACCACATTTCCTTTCCATACATCAGATAAATAATCACTAGCTGATTC TTGAGTTTGGGGAAATTCATCTATGCTAGCATCTGAAGACTCACAGTCTG CGATTTTGCTTAGACAATCTCACCATCATCATTACAGTCTGGAGTGCTGC CATCTATCTGTCTTTTTGTGTTCATCTTCTGATTTGTTAATCATCAGAAA TGTCTTCCTCTGTCAATTCTCTTCTCCTTGACATTACAGATGAAAAATAG AAAAATTCTGGA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	364	0.0027	-2361	c.510 others(17): Show c.510+6940_511-6351del	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	5/13			chr20	TogoVar
PPFIA2_chr12_81252975_81764350	81632641	TTTCTTTA others(2349): Show TTTCTTTAACTCCTGGTAGGAATTACACAATATGTTTAATTTCTCACCTC TGTCAGGAATAAGAAAGGAAATATGCAAGCTACAAATGCAGTAGCTGTTT TAGTGTCTGAGCCAAAAAAGCAAATCAGGATGTGTATAAGGGGTCCCGTT TTAACTGGCAAAAGCAATCTGTGTCCTGAGGGGATTTACAAGGCCATGGA TACTCTGAGCTGCTGTACTCTTCTGTTCCCAGCCCTGTGGACCCTGGCAT TCTGATAGGGCTCTAGTGTAGTTCTCCATATACTGATTTTCAGTGGCATT GGAGCCCATACTGCAATCTCAGCTTAGTTTCTGCCTGACTAGGAAAAGTA ATGATTACTGTCGTTGAATCACTCTGCGTTATATCCACTTGGATTATCAC ATTGAATATTCATGCCCACCCTTTTGATGTAGTAAAAACTTGATCATAAT CACGTCTAGTAAATGATGAATGTGGCATTTGTGCTCAGGCTTCTGTCTGA CTTCAAAATCTGTGAGTGTGGCTATTTTTATTACAATGTCCTTCCACCTT AATGGAGCTATAGGAAAAGGAAATATTTTACAATCTCATACACTTTGAAT ACATCTGGGATTTCTCTTTCTTATCCAAAAGATACAAGAGTAGCCTGCAG AGAGGCTTAGGGATGACTAGACAGAAAGAGTATTGAAATATTTAATGAAC CACATGCTGGAGTCATGTGCTAGGTACAGGGTTGGGTACTGGAGATTTGG TGATAAATTTTTCATTGTCCCCACCATTTAGTTGCTGGCAATGTTCTTGA GAGGCAGACATGCAGACAATGTGATACAACATATTCTGAAGTTCACCTGG GGACCCAGGCAAGACAACTGCACTATAATCATGGCTAGGTTAGGCAGGAC AGCAAAAAAAAAATACCCAAAGAGGCAACTTCTAAATTGGTCCTTTAAAG TTAAAGAGGAGCTTGCCAGGCAGAGAAAGGAAAGTTAGATATAGGAATAG AACATTTCAGGCAGGAGAAATTTTATGAGCAAAGGAAACAAACTAAGGAT CGCATTTATATAGTGAAAATTGGATAATTAAGTAGATAATGAGATTAAAT GGAGAATATTAGACAAGATAGGAGAGTATAAAATTAGCCATAATTCCTTA TTAGGATGGTATTTAAGGTAATTTTGTTTTTGTTTTGTGTTTGGAGCAGG GGGGAGAGGAAGGTGGGTAATAGAGAGGTTGCTTATGTTTATATTAGGAG CTCAAGAAAATATGTGCCAAAACTGAGAAGACCAGGTACTTAAAACTCTG TCAGACAATGCTTTGGCAATGCTTGGAGGTGAACAGCTATTCAAAAGCAC TCTCTTGTGTTAAACTGGTGTTAACTTTGTAATGGCTTAAAATATAAGTT AAAATGTTACATTAATTTTTTCCAGTAATGCATTTTTTGTTTGCCTCACC CAATATAGATCCAAATAAGAGAACTTCTTGCATTTCCAGAAATGTCTGTA ACATTGCAATAGCAGGTTTTGTTCTCATGGGCTGCTCTGTATAATTGGTT AGTTTGAAGGTTGGCATCTTTTTGTAGCTTGCAATATGAATTTTGGAGCT AAGGGTTTAAAAATGTGGATAAGGCAAGACGTCCCCTCCATTCTTTCTCG AAATGTTCCTGCTTCAAGTGACTAATCCTATTTTTGTAATGAAACGAGAA TGATTTCTGTAAGTTTATTTTGTGGAATGAAAAAAAATGTTTGAGCTGTT TCATTTTGTATTCTTTAAAGCACAGAGCACGTTTCTGGCCTTTGGTTGAA CTGATGAAGCATCCCAATCCAGCTGTAACTTTGCTATACTGCAGAGTTGG AAAATCTGTCAATATCTTCCTGCAAGTGAGCTGTTTTCATGTCTTAAACA TGAATTTTGTGTGGTTAAAATCAGTTCATCACACCAGAGGCTTCTGTATT GACCTCTTGTGAAAAGTGGAATAATTTTTCTTGAAGGAACAATGCTGCAT ATTATAATACAAGTTTCAGAGGCATTATTTGAATTATCATAATTAGTTTT GAGAACCACATGAGGCACTGTGATCATTTTTGCTTCAACCATTAAACATA ATTCTGAAAATTCCAGAGGTAAAGAGAAGTCTATATTATTTACCCACATT TTCACCCTTGCTTGTTTTTTTCTTCTTTTCTGGTGTTCCAAATTTCCTTC TTTTGTTATTTCCCAATAGTATGGGTAATGTGTCCTTTAAAATTTTCCCT AAATATTGTCTTTATCAAAGAACACTACATAATAGCTCTAACTTCCAACA TATCTTCATTGTCATTAATAGGTACTAGGAGACATTATTTTAAAACATCT TGCTTGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	168	0.0060	-2356	c.303 others(19): Show c.303+41794_303+44149del	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
DLGAP2_chr8_732628_1713476	1015224	AGACGGTG others(2348): Show AGACGGTGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTG TGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACA GACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGAT GCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTATGAC CAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAG GACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACT GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGGTGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA CGATGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGT GTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACA GACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCA GGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGA CAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGAC AGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTC CACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGG ACAGAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0032 a0002c0001t0002g0032	1	40	0.0250	-2355	c.73+ others(19): Show c.73+107263_73+109617del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
TAF2_chr8_119725774_119837841	119725908	AAAATAGA others(2348): Show AAAATAGACAACAGTATTTCAAAGATTCCTACAAACAGTGGATTGAAAAC AATAACAATCATGCATGCATGGACAAACAACTGAAAAAAGTTAAACTAAT GCTCATTTCATAGGATGAGCTCTTCCAAAGCTACATTAAAAGATAAAACA TGGTAACCAATTAATTCAATAGAACTTACTGTGATGCTGGAAGTGTTCTA GATTGGCACTATCCAACGCCGATAGTCACTAGGCTTATCTGGTTTCTGAA CACTTAAAATATAGCCAAGTGGGCTAAAGTTTTATTTTAAAAATATAATT ATTTAAACAGCCACGTAGGCTAGTGGCTACCACATTGGACAGCACACATC TAGGAGACACAAATAGAGCCAGGCCCTTGGGTTTGAATCCAAATGCTATC ACATACAAGCTGTATGACCTTTGGCTTAACTTTCCTGTGCCTCAAATTCT TTATCATAATACCTACCTCATATGGCTGTTGCTAAAATTAAATTTTTTTT TTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTTGAGTGCAAT GGCATGATCTTGGCTCACTGCAACCTCTGCTTCCCGAGTTCAAGCAGTTC TCCTGCCTCAGCCTCCTGAGAAGCTGGGATTACAGGCATGCACCACCACA CCTGGCTAATTTTGTATTTTTAGTAGAGATGTGGTTTCTCCATGTTGGCC AAGCTGGTCTCAAACTCTCGAGCTCAGGTGATCTGCCTGCCTCAGCCTTC CAAAGTGCTGGCATTATAGGTGTGAGCCACCGTGCCTGGCCTAAAATTAA ATAGTTAATGCATAAAAAGTACTTAAATATTTCAAGACAAATGGTAAGTT AATGCATAAAAAGTACTTAAATATTGCAAGATAAATGGTAAGTTAATGCA TAAAAAGTATTTAAATATTACAAGATAAATCTCCTAGTCAGATTTGAGGA AAAAAAGCAAAAAAAAAATTAAAATAATTTGAAATATGAATTGACAAACT CTTGTTACTAATGAACCTTGAACTAAGTCTACACTGGGGCTTCATAAATT CAGTACTTAGTATGAAGCTATCACAAACTGCAGGACATTAACAAATAATT TATTAGGTTGGTACAAATGTATTTGTGGTTTTTGCCATTGAAAGTAATGC AAAAACCACAATTATGTTTGCACCAACCTAATACTTCATCTTTATCCTAT CCTTTCTGACACTTTTTTTTTTTTTAATTATTATTTCACTGGGCACTGTG GCTCACACCTGTAATCCTAGCATTCTGGGAGGCCGAGGTGGGTGGATCGC TTGAGCTCAGGAGTTCGAGATCATGGACAACATGGCGAAACCCCATCTCT ACAAAAAAATACAAAAATACAAATTAGCCAAGTGTGAATACAAATACAAA TTAGCCAAGTAGCACCTGTAGTCCCAGCTACTTGGGTTGCTGAGGTGGGA GGACCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGTGCTTGTGCT ACTGTACTTCAGCCTGGGTGACAAACGAAGACCCTGCCTCAAAAGTAAAT AAATGAAAATGAAAAATATTTAAAAAAAAAATTTTTTTTTTTGCCAGGCC CAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGG ATCACCTGAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAAAA TCCTGTCTCTACTATAAATACAAAAATTAGTTGGGCATAGTGGTGCATGC CTGTAGTCCCAGCTACTCGGGAGGCTGATGTACAAGAATTGCTTGACTCC GGGAGGTAGAGGATGCAGTGAGCTGAGATCATGCCACTGTACGCCATCCT GGGCAACAGAGCGAGACTCTGTCTCAAGAAAAAAATAAAATTTTTTAAAG ACTGGCTCTTGTGCTGTCGCCCAGAATGGAATGCACTGGCATGATCATAG CTCACTACAACCTCAAACTCCTGAGCACAAGCAAACCTCCCACCTCAGTC TCCTGAGTAGCTGAGACTATAGGCTCATGCCACCATGCCTGGTTAATTTC ATTTTCATTTTTTTGTAGAAATGGGGTCTTGCTATGTTGCCCAGGCTGAT ATTGAACTCCTGGCATCAGCCGTCCTCCCACCTCAGCCTCCCAAGGTGCT GGAATTACAGGCATGAGCCACCATGCTCAGCCTTACATATACTTTATAAC GAACATACTATATTAATACATATATACTTACATATAATAAATATACATAC ATTAGATATGTACATTCATTTTTTAAAGAAAATAAATGGAATAAAAAACC AAAAATGTTTAGAGATTACTGGGCTAAACCAAGTAAAGTGAGTTTGTTTC AGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	320	0.0031	-2355	c.36 others(11): Show c.3661_*6015del	TAF2	ENSG00000064313.13	transcript	ENST00000378164.7	protein_coding		4865		chr8	TogoVar
TMEM165_chr4_55390957_55431175	55400534	CTCACGCC others(2347): Show CTCACGCCATTCTCCTGCCTCAGCCTCCAGCATAGCTGGGACTACAGGCG CCCGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAGACGAGGTT TTACCGTGTTAGCCAGGAGGTCTCCATCTCCTGACCTGGTGATCCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCACGCCTGG CCTTAATTATATTTTTATGTAACTTTTTGATACTACTCAAGTATTTTTTC CTCTACGGTACTCACTATGCTGAAAGATTTTTCTTTCACATGTTTTCTAA ACTATGTAATATAAGTGTCATTGGCTATTTTTGTCCACCTGATGGAGGTA AGAAATGATCAAAGTACAGTTTAACAGCAGTATTAGCAAGAGTTGAGCCT TGCTGAATATGTAAGTTTCAACGGATTTGCTTTGCAACTACATGCAGTAG ATGTTTTAAGAGGGTAGGTAGGATATTTAAATTTAACCTTTTTGTGCCAC TGTGTGAGAGTGGGCTTCTGAAAATGGAGGGGGGAAGCATCTCTCCTTGG TTAGTAGGCATTCAAGTGGAAGATATGTTATAAAAACCTAGTTGTATCTT ATAGGATGCTAAAAGCAAGGTGACTGAACTTCTAACAGGGCATTCTACAT TGAGTATGTGCTTTTCTCTATAATTAGGCTAAAAAAAGGTTGGTAAGTAA TATGAACTTAAAATCAAGATTAACCCCCAATTTACAAACCCATGATAAAA AGTGTTGTTGATTACTTGGATCCTATCTTTTCTGCAGTTTATGTTTCTAG TGACTTACTCAATAGTTTTTTCTTACTCTTTCCCTGGACAGAATATGTAA TATAAGAAACATAAGTCCTTTGAGTTGAGGGAGATCAGATAGATTTAATA AAAGTCATTTAGACTTTATTGCATATTCTGGAAGTCCAAAGAAGAATGAC TCTGGTTGCATAGCACTTCTAATAAAGCCACAAAATCATTACCTGACTCA GTGCCTGTTCTTGTTATCATATTTTTACTTTATGTTTTGGTATTTCATTT ATTTATTACGTTTCAGCTGTGAGAGTACCTTCTACAAAACATTTTAAACT TTTTTCTATTTTCATTAAGTTGCAGTCCCACTCCACCCAGTCCAGCCTCC TAATTCTAGCCTTTATACAGCTAAGATTGAGGCAATCAGTTATAAGGACG CCTGCTCATAATTACCTTCTCAGAAGGTAATTATATTAATACTGAATTTA TTTAGTGGTATGCTGTCATCAAAAAAATTCATTAAAAATAAAATCAATGA AGGCCGGGCGCAGTGGCTCACGCTTGTAATCCCTCCACTTTGGGAGGCCG AGGTGGGTGGATCACCTGAGGTCAAGAGTTCTAGACCAGCCTGGCCAACA TGATGAAACCCCATCTCTACTGAAAATACAAAAAATTAGCTGGGCGTGGT GGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCG CTTGAGCCCGGGAGGTGGAGGTTGCAGTGAACCAAGATCGTGCCACTGCC CTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAGA AACTAAACACATTTAATAAATTTCAAGTGCATAAATACATTACAAAACAA CATTCATAAAAATAAACATTCATTAAAACAAAAAATAATTTTATTACAAA ATATTACATATAAATTCTAATATAAATTAACAAGTAACAATAAAGTATTT AAAAATAGTGAAACCATTCACAAAAATACGTAATGAAAATTAAAATACTT TAATGTTATCTTTCGAAATCAGGTTTATCTGTGGTGTCATTGTTTAAGTG CGTGCGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACT GTCACCCAGGCTGGAGTGCAGTGGTGAGATCTTGGTTCACTTCAACCTCT GTCTCCGGGGTTCATGCAATTCTCATGCCTCAGCCTCCAGAGTGGCTGAG ACTACAGGTGCATGCCACCACGCCCAGCTGATTTTTGTATTTTTAGTAGA GATGGGGTTTTGCCACGTTGGCCAGGCTGGTCTCAAGCTCCCAACCTCGA GTGATCCACCTACCACGCCTCCCAAGTTGCTAGGATTACAGGCATGAGCC ACCATGCCCGGCCTAAGTGCATATATATTTTTGGGCACATTTTTACAACT TTTAAAAAAAGCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCC CGGGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02258.hp1 others(15): Show HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0132 others(13): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0001g0271	18	380	0.0474	-2354	c.207 others(17): Show c.207+4156_207+6509del	TMEM165	ENSG00000134851.13	transcript	ENST00000381334.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
NKD2_chr5_1003802_1043943	1041590	GTGTGTGA others(2346): Show GTGTGTGAATGAGTGGGTGTGTGAACGAGTGGGTCAGTGTGTGAATGGGT GTGTGAACAAATGGGTTTGTGTGAATGGGTGTGTGAACGAGTGGGTGTGA ATGAGTGAATGGGTGTGTGAAGGAGTGGGTTAGTATGTGAATGGGTGAAC GAGTGGGTTAGTGTGTGAATGAGGGAGTTTGTGAATGAGGGAGTTAGTGT GTGAATGGGTGTATGAACGACTGGGTTTGTGAATGGGTGTGTGAACGAAT GGGTTAGTGTGTGAATGGGTGAGTTTGTGAAAGAGGGAGTGTGTGGATGT GTGAATGAGTGGGTTAGTGTGTGAATGAGTGGGTGTGTGAATGGGTGGTG TGTGAATGAGTGGGTTAGTGCATGAATGAGTCGGGTTATTGTGTGAATGA GTTTGTGAATGGGTTAGTGCGTGAATGAGTGGGTGGGTTAGTGTGAATGA GTGGGTGTGTGAACGAGTGGGTGAGTTAGCGTGTGAATGGGTTAGTGTGT GAGGGGGTTAGTGTGTGAATGGGTGTGTGAATGAGTGGGTTAGTGTGTGA ACGAGTGGGCTAGTGTGTGAACGAGTGGGTGAGTTTGTGAATCAGTGGGC GAGTTAGTGTGTGAATGGGTGAATTCGTGTGTGAATGTGTGTGAACGAGT GGGTGACTTAGTGTGTAAATGACTGGGTGTGTGAGCGAGTGGGTGTTAGG GTGTGAGTGGGTTAGTGTGTGAATGGGTGAGTTAGTGTGTGAATGAGTTA GTGTGTGAATGAATCAGTGGGTTAGTGTGTGAATGAGTGAGTGAATGGGT GGGTTAGTGTGTGTGTGAAGGGGTTAGTGTGTGAACGAGTGGGCGAGTTA GTGTGTCAATGAGTGGGTGTGAATGAGTGCGTGTGTGAATGAGTGGGTGA GTTAGTGTGTGAATGAGTGGCTGTGAACGAGTGGGTGAGTTTGTGAATGA ATGGGTGAGATCGTGTGTGAATGGGTTAGTGTGTGAATGAGTGGGTGGGT TAGTGTGTGAATGAATGGGTAGATTAGTGTGTGAATGAGTGGGTGGGTTA GTGTGTGAATGAGTGAGTTAGTGAATGGGTGGGTTAGTGTGTGAGTGAGT GCATGAATGGGTGAGTTAGTGTGTGAACGAGTGGGCGAGTTAGTATGTGA ATGAGTGGGTTAGTGTGTGAAGGAGTGGATGTGTGAACAAGTGGGTGAGT TAAGTGTGTGAATGAGTGGGTGTGTGAACGAGTGGGTGTGTGAATGAATG GGTGAGTTCGTGTGTGAATGAGTGGGTGTGTGAATGAGGGGTTTGTGAAT GAGTGGGTGAGTTTGTGAACGAGTGGGCGAGTTAGTGGGTGAATGTGTGA ATGAGTGGATGAGTTAGTGTGTGAACGAGTGGGTTAGTGTGAATGAGTGG GTGAGTTAGTGTGCAAATGAGTGGGTGAGTGTGAATGGGTGTGTGAACGA GTGGGTTAGTGTGAATGGGTGAGGTAGTGTGTGAATGAGTGGGTTAGTGT GAATGAGTGGGTGTGTAAATGAGTTTGTGAATGAGTGGGCAGGTTAGTGT GTGAATGAATAGGTGAGTGTATGAACGGGTTAGTGTGTGAATGAGTGTGT GAATGAGTGGGTTAGTGAAAGAGTGGGCAAGTTAGTGTGTGAATGAGTGG GCGAGTTAGTGTGTGAATGAGTAGGTGAGTGTGTGGGTGTGTGAATGAGT GGGTGAGTTTGTGAATGAATGGGTTTGTGAATGGGTGGGTTAGTGTGTGA ATGAGTGGGTTAGTGTGTGAATAAGTTGGGTTGTGTGAATGAGTGTGTGA ATAAGTGGGTGGGTTAGTGTATGAATGAGTGAGTGTGTGAATGGGTGAGT TTGTGAACGAGTGGGCAAGTTAGTGTGTGAACGAGTGGGCAAGTTAGTGT GTGAACGAGTGGGCGAGTTAGTGTGAATGAGTGGGCGAGTTACTGTATGA ATGAGTGGGCGAGTTAGTGTGTGAATGAGTAGGTGTGTGAATGAGTGGGT GTGTGAACGAGTGGGTGAGTTTGTGAATGAATGGGTTAGTTTGTGAATGA GTGGGTGGGTTAGTGTGTGAATGAGTGGGTTAGTGTGTGAATAAGTTGGG TTGTGTGAATGAGTTAGTGTGTGAATAAGTGGGTGGGTTAGTGTATGAAT GAATGGGTGAGTTTGTGAACGAGTGGGCAAGTTAGTGTGTGAGTGGGCGA GTTAGTGTGTGAAGCAGTGGGCAAGTTTGTGAATGAGTGGGTGAGTTACT GTGTGAATGAGTGGGCATGTGAATGAGTCGATGAGTTAGTGTGTGAATGG GTGTGTGAACGAGTGGCTGAGTTAGTGTGTGAATGGGTTAGTGTGTGAAT GAGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	318	0.0031	-2353	c.32 others(11): Show c.3218_*5570del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding		2648		chr5	TogoVar
SPOCK1_chr5_136970298_137504326	136985430	GCATAGAA others(2344): Show GCATAGAAATTTTTCTTTCTAGTACCAACTCAAGCAAATACCAAGTATCT AATAGGTGGTGTAATGGACTTTTTCCTTTCTATCAGGAAGCAAGTAATCA GCCAAGGCTTATTAGTGGGGAAGTGTTCTGAATCCACAGACGAACTAACC AGAGGTGACAAATACTTATATAGCCTAGGTTTTCCTGTAGGAAAGGATGG ATAGGAATGGTTACTTCAGACCTCACCACCCCCAGGAAAGTAAAATAGGC TTTGAGGGACAACTATGAAGATACAGAAGAGATCTGGAGAAGCACTGATG AGACTTTGTATCTAGGCTCTGCCACCTCCTAGCTGAATTCACCTGTCCCA GCCTCTGGGTCCTCAGCGGCAAAATGCATGTCATAGAAAAGAAGTTAGTT TCATTCTAAGCAAAATGAAAAGTGACCTCATTCATTCTTCAGAGTTTTAC CATGATTTGCCTTTGCAGACCTTGTGGCTCTGGGAGTTCTGCTATTTGTT CATGGTTCATCCTGTCCTTGGCAGAGGAGTTCTGGTTCTCTGAGTTCTTA TCTTTGGCTGATACTGCCTCTTTCTGCAGGCCCCACACTTGCATATAAAG TATCTAAGCAACCATTTACAACTCTTACCCTGTAGACTGCACAATGCTAC CTGGTCTTGCTGCTTGTTCCATGAGAGAAACTGCTTGTAAAATACATTTT GTTGACTTCTTGTTTTAAGATGCTTTCAGAGTAAAGGAGAAACAAATTTC ATCTGGATTATAAAAGGTAGCATTTCCTGGATGCTGTGCCACAGGAAGGG GTTCTGGCTTTCAGCAACTGCAAGAGTAAGGGCAGTCTATCCAGAGATGT CCCATGTGGCCAGGTGACCAGCTCTGGCACTGTTACCTCCAGGCAAGCAT TAACACATAGGCTCTGTGTTGTAAGGAAACCATGCTAAAAATCACATGTT ACAATACGAACTCAAACCTAAAACTATCACTAGTCTTAATGCTGAGAATC ACTACAAGTATTTACACTACTAAAATTTTTAAATGGCTATTATCTTAACA TTGATTTTAGGTACTAACAGATGTAATTAGAAAAGAAAAATGAGGTATAA AAATTGAAAATGAAGAGAAAAATTATCACTATTTGCAGATGATATGATTG CACACCCGAAAAATCTAAGCAAACCAACCAGAATAACTTAGAAACAAAGC AAGATTTTAGTAAGGTGGTTGAGAACAAAATTAATGTTGAAACCACCAGG GAGGGAATATAGTGCAAAAAAACACCTATTTCAGTTACAATGGTAGCAAT AATAAATACAAGGGAAGTATAATAATTGTTAGAACAAAATTTCAAAATTA ACACCATGGGTTGATAGATCCTGTTCTAAAACAAAATGATTCCATATTAT ACAGCTATTGATTTTTATTTGATTAATTTTTCCTGATACTTAAAAATTAC CAATAGGAATTGTTTTTAATTGGATAAACTGATGCTAAAGTTCACACAGG GAAAGAAACATACTAATATCCAGGAAAATTCTAGAAAAACAGTAATGGCA GCAAAGGACAGTTCTACCAGGTAGTAAAACATATTGTAAAACAACTGTGA TTTAAAAGTCTAAAACTGATTTATTTTATATATATATATATAGCAACTGG ATGACCATCTCCAGGGAGGCTGGGAGCCTACTTGACTGTGTAATACACAA TCTAGACTGATACAGAATTTAAGTGAACAGCAAAAAAGATAAAGTGAGAA ATACCTTTCTAAGCTTTATGGCTTCTTAGAAGCCATAAAATACAGAGAAG CTTGGCTATCTTAAAATTTCTCCCTAACAAAAATGCATGAACTGTAATTT GGGAAAAAATATTTACAATACCTATGACCAGAAAAGTTCCAATTTCCTTA AAAAACAAACACACAAGAACCTGATAGAAAAAATATACAAAGAACATATA GACATTTCCAGAATGTTTCATTTGTACAGATGTTCAACCTAACTCATAAA TCAAGAAGCTTGGTAACGCCATAGAGAATAGGTATTCTCATATATCTTTG GTGAAAGTAAAAATTGTTACCACCTCTTTGGAGGTGAGGTCAATTGCTCA AATTTTAAAAGGCACATGCCTTTTGACTAGTAATTTTAAGAACATATCTT GAAATCCCATACACACATACTTACCTTTCACTGAATACCCACGTTTTTTG TTGTGTGTGTATTGTCTATGCATACATAACTTAAATACTTTCATATTAGC AGCCATCCTCCTTTCCTGGCGGTGGGATATACCAGCTATGCCTGTAGTTG TATGTTCTCCCGATGTGGGCCTGTCTCTTCTGGTCCCATTAACTGTGACT GC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0008 a0001c0002t0014g0008	1	152	0.0066	-2351	c.928 others(15): Show c.928+641_929-229del	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	8/10			chr5	TogoVar
KRTAP19-7_chr21_30555875_30566314	30558319	GTGATCCG others(2343): Show GTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGTATCACAGGCGTGAGC CACTGCACCAGGGGCATGGCCAGTTTTCTAAAGGGCTTATACTAATTCAT TTTCTCAGTGGTAATGTGCAAAAGTTCCTGATATTCTATATCCCGGCCTA CATAAACAAAATGTTGTAAGTCCTTTTAATAATGACTTTCTGGTGAGTGC ATATTACTATTTCTCACTCAAAATTTAATGTTCATGTCTCTGATGACAAA TGGTACTGAACTCCTTCATACATGCTAATTAGACATTTGGATATCTTTTA CGAATTGGCTAATTAAGCCTTTTGCAAATTCTAAAAATTGTTTTGTTAGA TTTTTTCTTATTAAATTTATAGCATATCTAAATAAGTAATGTGTGCCAGG TCCACATAACTGTGTGCTAATTGTCTTTTTTCTGTCTGTGGTCTTTTCCA TTTTTTAATTGTGCCTTTTGGTAAATAGGAATTTAGAAGTTCTTAATATT TTCTTCATCAGGACTGTATTGGTTATTGCAGGTTCTTAATATTTCTGTAT AAATTTTAGATCAACTTGTTAAGTTTATATGGTTTGGCTCTAGGTCCCCA CACAAATCTTATCTTGAATTGTAATCCCTGTGTGTCAGGGTAGGGAACTG GTGGGAGGTGATTGGCTCATGGTTGCGGATTTCCCCCATGCTGCTTTCAT GATAATGAGTGAGCTCATTAAAATTGTGGCACTTTCATCCTCGCTCTCCC TCTCCTGCCGCCATGTAAGACATGCCTTGCTTCCCCTTTGCCTTCCGCCA TGGTTATAAGTTTCCTGAGGCCTCCACAGCCATGTGGAACTGTAAGTCAA TTAAATCTCTTTTCTTTTTAAATTACCCAGTCTCATTATTTTGGATCTTT AAGATTTAATGACTGCCCTGTTGGGTTTTAAACTTACATGGTGCCTGTAG CCCTTTTCTTTTGGATGATTTCTCCCTTTTTGGAATGGGAGTATTTACCC ATTGCCTATACCCTCATTGTTTCTTGGAAGTAACTAATTTGTTTTTGAGT TTACAGGCTCATAGGTGGAAGAGACTAGCCTTGTCTCAAATGAGATTTTG GACTGAGAACTTTTGAGTTAATGCTGGAATGAGTTAAGATTTTGGGGGAT GTTGAGAAGAAATCATTGTATTTTGCAATGTGAGAAGGGCATGAGATTTG GGAGGGGCAGGGGGCAGAATGATATTCTTTGGATTAGTGTCCCCATCCAA ATCTCATGTCGAATTGTAATCCCCAGTGCTGGAGGTGGGGCCTGGTGGGA GATGATTAGCTCATGGGGGCAGTTTCTTATGGTTTAACACTGTCCGCCTT GGTGCTGTCATGACAGTGAGTGAGTTCCCATGAGATCTGGTTGTTTAAAA GTGTATAGCACCTCCACTTTCTCTCTCTTCTTCCTGCTCCACCATGATTT CTTGTTTGCCCTTCACCTTCCACCTGCTTCCCCTTCCTCTTCCACCATTA TTGTAAGTTTCCTGAGGCCTTCCCTGGAGACCAGTAGATGGCCTGCATCA TTCTTCCTGTACAGCCAGAGGAATCATGAGCCAATTAAACTTCTTTTCTT TATAAATTACCCAGTCTCAGGTATTTCTTTATAGAAATGGAAGAATGAAC TAATACAGCTAACCTTAAAAAAAAAGTACAGAAGAGTCTTAGTGTTTTAT CTTATCTTATTCTCTGAAAGAGAAACTGTTCAGAATTAACTGGTGAAATC ATCTAGTCTTAAATTTGCATATTTGTCAAAATGGATTCATGAATTCCACT TCTTTATGACATATAGAAATATTCAGGTTCGTATTTCTTCTTGGGTCCAC TTTTTATACATTTAATTTAATCAGATAATATGTATTTGAAGATGGAATAA ATTGGCCCGAGCTTTGTTTTATAGCTTTTTTTCTATGCAATTTTTTAAAC ATACACAAAAGAAGAAAGAATAACTATTACACCAGCCACCATATTCCCAT CTCCTAGATAAAGCTATTGTTAATACTTTGATATAATTCCTTCACACTGT TGTTCTCCAATGTTATAATCTATGTGCAAGCTAAAACCTTTTCTTATTAT ATTGCTCTGAAATTATCAAGATATTCTCCAAGAAATAGTGAATTAAAAGA TTAAGCAGAAGTTTATCACCACAGAAGCATCTTTAACCTTTTGGTGTAGA ATTCCTGTTTGCCTGGACAAGAAAATATAGATATTGAGAATGTTAAAGAT GAGGAGGAGGAAGAAGACAAAGGAGAAGGGGATAAAGAAAAGAAGATAAA GGAGAGGAAAGGGATGGAAAGGGAGGAAGAAGGTTTAAGGGACAGGAAGA A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	420	0.0024	-2350	c.42 others(10): Show c.429_*2778del	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		2555		chr21	TogoVar
SLC24A4_chr14_92318165_92506481	92333878	GGCTGGGC others(2341): Show GGCTGGGCTAGGAGGAGATGAGATCACCAAGCAGGTGCCCTCAGGGGTGG GCCTCTGTAGACTCCCCTGTGCGGGGAGCAGAGGTGGAGAAAGCACGAGA AATCAAGAGAAGGACAAGGGGCCTAGAGCTGCAAAAAGGACATCAGGACA AGTGGGTGAGGAGGTGCAATGGCACTGGTGGCAAGAAGTGTCTGGATTCT GAACAAACGTCTGTTGGAATGATGCCTCAGTGGACTTGGGAGACAAGTCA CACATCCAAATTTTAAAGTCGTTATGTAAAAGCAAATTTTGAGTTAGAAA AGCAAGAATTGGATTTACTACTATGGGCAGGGAAATCACAGTTCTATTCC TTTCCCAGACAGCAGGGGCAGGATGTCCAGCCTGGAGAGGGCCTTTCCTG AGAAGGGCAGCCTCCGGAGGGCCAGGCAGCTTCTTGGGGAAACTGTCACC AACCATACTGGACAGCCATAGGCTGGCACAGCCACCAATGTGATTACAAA CAAAGGCTGAGGAAGATGGCACCCGGCATCACTGTGCCCACTCATGCCTG TTTCAGGGGTGGAGTGGGATGGTTATAGTGGATCAGTGGATTGGGAGCTG AAGGTCTGCGTTCTAGTATCAGTTGTGCCCGGATCCTGCCTGCTGGCATT TAGTGGCTATTCTCCCTCCCTCTCTCTCTTTCTTAACAAAAGGAAGTTGC ACTGGATAAGTACAAAGATTTTCAGCAGCCAGAAAAGGCTCCTTCCCGTC TGTCTGTCTGTCTTGAAGATGGTAGTTGGACATGGTGAAGGCAGACGTGA GGGTTTGAGTCCCAGCTCACCCCTTACTGGCCGTGTGACCCTGGACAAGT TACATAATCTTGCTAAGCATCAGGATTTCTCTTTTGTAAAATGAGGATAG CAGCTCTTCTTACCTGTCTCACAGTGCTGCTGTGTGACACCACATGCTGT ATGGAAGTATTTGAACCATACGGAGCCCGTGGTAGCTGCCATCATCATCA TCATCATCATCGTCATCATCATCATCATCATCGTCATCATCATCATCGTC ATCGAGGTGAAGTCCAGGGTACCCTATGTTGGGCGCTATTCTAAGCACTT TTCAGGGGTTACTTGCTTCTCGTAACAACTCTGAAGGCAGGTGCTGTCCT CAGTTTGCCGATGAAGTGAAAGAAACCCAAACTAGTCCAAGTCACGCGGC CAACAAAAAGCAGAGTCAGTGGTTTATGTGTTTTTAATTAATCGCTTTAT TTTTAGAGCAGTTGTGGGTTTACAGAAAAACTGAGCAGAAAATACAGAGT TCCTCTGTTACCCCTCCATCCTCACAGTTTCCCCTATTATTGATACTTTG TATTAGTGGGTGTATTTGTTACAATGATGAGTCAATATTGATACATTGTT ATTAACTAATGTCCACCTTTTACATTAGGGCTTCCTCTTTGTGTGACACA TGCCATGTTTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGACA AAGTTTCACTCTTGTTGCCCAGGTTGGAGTGCAATGGCAGGATCTCAGCT CACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTCCCTCAGCCTC CCAAATAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTG TATTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTG GTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCCTCATGCCATGGGTT TTGATAGATGTGTGATGTCCCCTATCTACCATTATGGTATCGTACAGAAT AGTTTCACCACCCCCAAAATCTTCTGTGGAGCAAGACTTTTAATTCAGGT GGTCTGAATTGTGATTCCTATATTCCTTACTCATAACTATTAATAAGTGG GGTAGAAAAAGACAAACTAGAGATGGGAACTTCTGTAGCAGATTCCAGCC TGTCACTGTCTGAGTGCCCATCTGAGAAACAGAGAATGCCCTGTCCACGG GAGCAGCAAACACCTATGTGGGCCGTGCTTCTTGGTAGGTTTCTAATACC AATTTGTTTGCAATCGGAAGTTTTTTTGGCCTCATCCAAATGATCGGGGC TATCTGCTTGCCATCTCTTCTCTTTGCTGGGCCATCTGCTACCCCCAACT TGTAGATTCTCCGCTCTTGATGCAGCGTGGCCTACCACAATCCAGAGAGC GCCCACTCGGCTTCCTCTTGAACCCTGAGGAACGTTCCTTCCTGAGTTAA AAATGGAAATTATAAAGCATTGCCATTTGTTGCCTTGGGTGAAAGAGAT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0012 a0001c0001t0103g0012	1	280	0.0036	-2348	c.241 others(18): Show c.241+7901_241+10248del	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	2/16			chr14	TogoVar
MYO6_chr6_75744239_75924537	75765175	TTTTTTTT others(2338): Show TTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCT GGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCACCCCCTGGGTC CAAGCGATTCTCGAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCA CACTACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCA CCATGTTGACCAGACTGGTCTTGAATTCCTGACCTCAAGTGATCTGCCTG CCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCATCTGG CCAAAAATAAACATTTCTTTTTGTGCTATAATATAATAAAATTCTGTAGG GAAGAAATTTCTGAACTCTTACCCAGTGCTCTAGAATCAAGTTTCATCTA TTTGTTTCACCTCTTAAAAAAAAAATTACCAGAAGTGATGGTATGTGCAT CTAGTCCCACCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAACTCAG GAGTTTGAGGCTGCAGTGAACTATGATCATGCCACTGCACTGATACAGCA AGAACTTCAAAAAAAAGAAAAGGCTAGGCTCAGTGATTTATGCCAGTAAT GCAACACTTTGGGAGGTTGAGGTGGGAGGATCATTTGAGCCCAGGAGTTT AAGACCAGTCTGGACAACATAGCAAAACCTCTCTACTAAGAATAAAAAAA AGGTTAGCTGGGCGTGGTAGGTGTGTGCCTGTAGTTCCAGCTATTTTGGA GGCTGAAGTGGGAGGATTGCTTGAGCCTGGGAGTTTGAGATGGCAGTGTG ATATAATTGCACCACTGAACTTCAGCCTGGGCAACAGAGTGAGACTCCGT CTCAAAGAAAAAAGCAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAG CACTTTTGAAGGCCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAGA CTATCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAGAATACAAAAGT TAGCTGGGCGGGGTGGCGGGTGCCTGTAATCCCAGCTACGTGGGAGGCTG AGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAG ACCACACCATTGTGCTCCAGCGTGGGTAAAAGAACTAGACTCTGTCTCAA AAAAAAGAAAAAAAGAAAAAAACTAGTAGACAGTGTAACCTACACATATG TGTGTGTGTGTATATTTTATATATATACATATACAGATATATACACTTAA AAATTAATACAGTATTCTAACATAAAGGAAAGTTATTAAATTATTAATTA TAGTAATTACATTAATATATTGTTTATTTCAGTTTGTGAAGGTGCAGGCA GTCCTTTACTACAAGGCAGAATAAAGTAGTCAGATGCTACTAACATCTAC ATGTAGAATAATCATGAATGCAGCAGCTGTAAATTAGACTAATATGCAAG TATTGTAATTGGTGACTCAAATATCTTTATTAGCATTGCTCTATAATGTG ATTTTTCCAGCATGATGAACACCTTTTGGTAAAGTTCCAAATAAAGGACA GTCTTCTTTCAATTTATGTGTTATTGTATGCTTTTTAGTCAGTGTGTGTT AAAGCAATGCAAAAATATTTTAAATATATGTACACATATATTGGATTAGA TTCTGGGCTTACCTATGTTCTCCTCTGAATTTGCTGTTCATTTTACCTTC TATACATCATTAGTGGCATCACAATAATTTGAAAATTTGAAATAAAAAGT TCTTGGCCCATACCCACAGGAGCTGGATCAGTTTGTAGCATCCTCACAGA CATTTGTGCTGGCTGCAGTATTTTTATTTTTTTGTGTCATCTTCCTCAAT TCATTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCACAATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTC AAGTGATTCTCATGCCTCAGCCACCTGAGTAGATGAGATTACAGGCGTGC ACCACCACGCCCAGCTAATATTTTGTATTTTTAGTAGAGACGAGTTTTAC CATGTTGACTAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCAT CTTGGCCTCCCAGAGTGTTGGGATTACAGCCGTGAGCCACTATGCCTGGC CCTCAATTTATTCTTGAGTGTTGCATTCCTGTCTTTAAGTGAGACACTGA AGCTTTTACATTCTGAATAATAATACATATAAATAAATAATAAGAATGAA TATAAAATTAATGTTTCATTTAAAGTGATGTAAATGAGAAACTATAATAG TTATAAATAGTATATGGTTCATAAATACACATGATTTACAAATTCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0151 a0001c0001t0029g0151	1	356	0.0028	-2345	c.-48 others(19): Show c.-48+15775_-48+18119del	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
LEPR_chr1_65415668_65646559	65542552	TTGCTGCA others(2335): Show TTGCTGCACCCATCAACCCGTCACCTACATTAGATATTTCTCCTGGTGCT ATCCCTCCCCTAGCCAGCCACCCCCCGACAGGCCCTGGTGTGTGATGTTT CTCTCCCTGTGTCCATGTGTTCTCATTGTTCAACTCCCACTTGTGAGTGA GAACATGCAGTGTTTGGTTTTCTGTTCCTGTGTTAGTTTGCTGAGAATGA TGGTTTCCAGCTTCATTCATGTCCCTGCAAAGGATATGAACTCATCCTTT TTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTTAT CCAGTCTATCATTGATGGCCATTTGGGTTGGTTCCAAGTCTTTGCTGTTG TGAATAGTGCTGCAATAAACATGTGTGCATGTGTCTTTATAGTAGAATGA TTTATAATCCTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATG GTATTTCTGGTTCTAGATCCCTGAAGAATTGTCATACTGTCTTCCACAAT GGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGCGTTCCTATTTC TCCGCATCCTCTCCAGCATCTTTTGTTTCCTGAATTTTTAATGATCGCCA TTCTAACTGACATCAGATGGTATCTCATTGTTGTTTTGATTTGCATTTCT CAAATGACCAGTGATGATGAGCTTTTTTTTCATATGTTTGTTGGACACAT AAATGTCTTCTTCTGAGTAGTGTCTGTTCATATCCTTTGCCCACCTTTTG ATGGGGTTGTTTGTTTTTTTCTTATAAATTTGTTTAAGTTCTTTGTAGAT TCTGGATATTAGCCCTTTGTCAGATGGTTAGATTGCAAAAATTTTCTCCT ATTCCGTAGGTTGCCTGTTCACTGTGATGATAGTTTCTTTTGCTGTGCAG AAGCTGAGCTGTTTAGTTTAATTATATCCCATTTGTCAATTTTGGCTTTT GTTGCCATTGCTTTTGATGTTTTAGTCATGAAGACTTTGCTCATGCCTAT GCCCTGAATGGTGTTGCCTAGGTTTTCTTCTAGGGCTTTTATGGGTTTAG GTCTTACATTTAAGTCTTTAATCCATCTTGAGTTAATTTTTGTATAAGTT GTAAAGAAGGGGTCCAGTCTCAGTTTTCTGCATATGGCTAGCCAGCTTTC CCAACACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGT CAGGATTGTCAAAGATCAGATGGTTGTAGATGTGTGGCATTATTTCTGAG GCCTCTTTTGGTTCCATTGGCCTATATATCTGTTTTGGTACAGTACCATG CTGTCTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGTTAGTGTG ATGCCTCCAGTTTTGTTCTTTTTGCTTAGGATTGTCTTGGCTGTGCAGGC TCTCTTTTGGTTCCATATGAAATTTAAAGTAGTTTTTAAAATTCTTTAAA GAAAGTCAATGGTGGCTTGATGGGGATAGCACTGAATCTATAAATTACTT TGGGCAGTATAGCTGTTTTCACAATATTGATTCTTCCTATCCATGTGCAT GGAATGTTTTTCCATTTGTTTGTGTCCTCTCTTATTTCCTTGAGAAGTGG TTTGTAGTTTTCCTTGAAGAGGTCATTAGGTATTTTATTCTCTTTGTAGC AATTGTGAATGGGAGTTCACTCATGATTTGGTGCTCTGTTTGCCTATTAT TGGTGTATAGGAATGCTTGTGATTTTCACACATTGATTTTGTATCCTGAG ACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGAT GGGGTTTTCTAAATACACAATCATGTCCTCTGCAAACAGAGACAATTTGA TTTCCTCTCTTCCTATTTGAATACCCTTAATTTCTTTCTCTTGCCTGATT TCCCTGGCTAGAACTTCCAATACTATGTTGAACAGGAGTGGTGAGAGAGG GCATTCTTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGCTTTTGCC CATTCAGTATGATATTGGCTATGGGTCATAAATAGCTCTTATTATTTTTA GATATGTTCCATCAATACCTAGTTTATTGAGCGTTTTTAGCATGAAGCAG TGTTGAATATTATCGAAGGCCTTTTCTGCATCTATTGAGACAATCATGCG GTTTTTTTTTGCATATAAATATAATAGAATATTATTCAGCCTTAAAACGG GGTGAAATTTTGATACGTGGTACAACATTGATAAACTTTATTTTATTTTA TTTTATTTATTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACA ATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0084 a0003c0006t0001g0084	1	214	0.0047	-2342	c.-20 others(19): Show c.-20-22981_-20-20640del	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
C5orf22_chr5_31527301_31560053	31557714	GCAGGAGA others(2332): Show GCAGGAGAACGTGGTAAGAATGTGGGTTCCAGGGGCCAACCACCTGACTC CAGTGTTCCCTTCCCCATGTGTGAGCTCTGTGACCTCTCTTAAGCCTCAG CTCCCCTTTTACAAGAAGAGAACTTAACTCAGCCAGGCGCGGTGTCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTC AGGAGTTCGAGAACAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAA AAATACAAAAAAATTGGCCGGGCATGGTAGCGGGCACCTGTAATCCTAGC TACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGT TGCAGCGAGCCGAGATCGCGCCATTGCACTCTGGCCTGGGTGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAACTTAACTCCTCAGGACA TTATGAAGAAAAATACATATAAAGCCCTCAGCACTGGAATCATTTAGTAA ACATTGGCTGTTGTTTCCAAACTCAGCCCAAATGAGAATATCCTGTGGTG GCTGCTCCAGTCTCGGCTGCTCTTCTCATAATTCTCCAAATACTGATTAT TTTCAACCGCCTATCAGCCCCCATCATATATCTGTGAATAACAGAATTTC AAGGTTAGAGGTCTATTCAAAAAAGGTGGGTTCTTGCCCATAAGGAAGGA AGAGATCACTTTAGGCAGTTACTGATAATTTAAAACTTTTGTCTTTCAGT TGGTGCAAGCATTCATTTATTCACAATTTTAAATCTTATACTCTCGTGCA ATTACAAGGGTCAAAGAAGTCAAAGCTTGCTCCAGCTTCTTTATACTTTC CCTTCTGCATGCTTGCAGATAAAACTCAGATTTGTGATGCCAAATTTTTG ATGTAGACAGTGTTTGGAAGTTGCTACCCCTGGACTTACGAATTGCCTTC ATAGAATCTAGGGTTATCCTCACCATTTTTGGTACAGCTGATTTACAGGC AACTTGAAATAACAACAACAAATCCCTCATGAATCAGCCGAAGCGTGACA GGGAGGTGGGGTAAAGTGGGTACCTCCACCCAGTTCACCAGTATTTCCCA AACCACTCCCAAGCATTTCCTTCACCTGGGCCTCAGCCTGACCAAAGATG AACCTCAGCTTATTGAGTGGTAAGGAAAATGGGATCATTAGAGAAAGGGG GAATGCCTTTGTCAGCTTGGCTTAATAAGATCACAACCCATCAGCTGACG CTGATGACTCAAGGAGGGAGGCTGAAGTCAGGGTTAGCGCTAGGCCCAAA GGCCAGCTTTTTGGGCAAATTACTCTGAGAACTGCACAGCCACACCATCT GCCCTCTGCAGCATTGCCCCATCTGGAGCAGGTATAATGAGGGGCAGCAT CATCACAAAGTGGCACCTGAAGTATTGGTGGCTTTGGAATCAGTCTAAGT CCAAGTATTTCCTCTGCCCGTTACAAGTTGTATAAAGTTGGACAACTTAA AGTGTCAGAGTCCCTTGATTTAGGCACGATTCAAGGCCCAGCTTGCGTTC CTACAGGACAACTATGCTCTGTCAATGCACTTCAGTGAGCTATTTCTGCC CTCCCCATCTGTCCATGAGCTCCTTGAGTGCATCCTTATACATTTTTGTT GCTCCAGTCTCTGGCATGGTCCCTGTCACACCATAAGGCCTCTAAACATG TATAATGAATTAATAAATACTGAAAAATTGTGATGGTCACTGGAGGCTCG GTGGTGATAAGCCTTATTATCTGCTCTATATTATACATCCTATTATGAAC ATGCCGTCTTTGAGAGCACATTAAACAAATGCATTAATGCAAGGATGAAC ACTTACCAAGGATTAAGTGTACTGAATACAAGAATCCAGAACAGCTAAAA GAAAAATACTTGTAATATAATGATTGTGTCCATAGAACAACTGTGTTATA AACAAAAGAAGTCCAAGGCAAATTGTGTTATTTTCCCAGTAGTTTTGTGA TCTGTTTTGTGTTCTTACGGTAAGGCCTGATAAGAACCATGTTCCACAAT GCATGTGTAAGCATGACCTAAAAATACATATAGTTTAAATTCCTGCCTAA CATTCAAAATCTAACATTTGATATATCCAAAAACTGTATGAACTTTTGAT CCCTAAATATATATTGTTTTGCCATTAAAGGAGTGACAGTTATTCTCACT TCTGATACTTACTTCCATTTCGAGGTAACTTCTGTTACAGTCCTGCCTTG CTCTGCCCTTTTACTCCTTCCTGAGTGAGGAAAAATGAAAGAAGAGAATT ACAAGATGCCTTCTTATAGAAATATATGTTCTGTTTTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-2339	c.48 others(11): Show c.4813_*7151del	C5orf22	ENSG00000082213.18	transcript	ENST00000325366.14	protein_coding		2662		chr5	TogoVar
ATCAY_chr19_3875685_3933082	3930431	TCTCCTGA others(2327): Show TCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTT ACAGGCGTGAGCCACCGCGCCCGGCCAAACAGACACTTTTTTAATAAATC AAGATGAGAGTCACTTAATATAAAATTAACCATTTTTTTGTTTTTTCATT CTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCAGCTCACTGCAAGTTCCGTCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCA GCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCT CGATCTCCTGACATCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCATAGCATACCCGGCCTAAAATTAACCATTTT TAAGAGTACATTCTTCACAATGTTTTGCAAATACCACCTCTATTAAATTC CAGAACATTCCATTACCCCAAAAGTAAATCTGTCCCCAGCAGCCACAGTC ATCCCCACCCACCTCCCCCAGCCCCTGGCACCCACGCGTCCCCTTCCTGT CCTCGTGGATTGACGTGTCCTGGGCATTTCATGTAAATGGGATCACTGCA CCGTGGGGCAGTGAGGTCGCTAATCAATACCCTGGGACCTGGGACTGCTT GGGGACTGGCAGGCATTTGTAGCCCCTGTGGCTTCTCCCTCTCCTTCCTG CCGGGGTGGGCTGGCACAGGGAGGCCTCCCAGAGGTGCCCTGCCAGGGCC TTTATCTGGGCATGTCACTGTCACCTGAGGCCCTGGGCCACGTGCCCCAC CAAGAGGCTGCCAGGAAATTCTTGCCACCGAAACTGGGCCAGAGGTGAAG CCCAGGAGCCGGGCTTTCCTGGGTGCCTGCTTGAGCACCTGGAGGAGCTC TGGCCACAGACATAGCCACCCCGCTGCACTGCCACAGATCCTGTGGCTGA CTGCTTTTTCTGAGCTTTCCTCATGAATACCCCAAGATTTCCAGTCCATT TTGCAAAAGCTCTTGAAGTCCAGGGTCACAATTCTGTTAACAGGACTCAT AAAGTACATCATTGGTCGGGCGTGGTGGCTTAAGCCTGTAATCCCAGTAC TTTGGGAGGCCAAGGAGGAAGGATCACTTGAGGCCAGGAGTTAGAGACCC GCCTAGGCAATGTAACAAGACCTCATCTCTTAAAAATTCTCTCTCTCTTT GGTGTATTGATCTCTTACTGCATACAGACATACAAACTTGGCCATCCTAT CACCCCACCTTCCTAGTCACTTCCCATCCTCTGATCACCCCCCTGCTCCT GGGCTATAATTTCCCACTTTTCCTTGTATTGGTGGAAAGGGAGAAGATTG AATTCAATCTCCCTCCCATACTACAAAACCCCATGGTAGTAGTCCCTCAC CCGCCTCAACAAAGTCAGCCTTACTGTTTTAAGAAGCATCAGAAAAATTA TTTTCTGGTGGGGAGAGGCGTCACATGCCTGTAATCCCAGCACTTTGGGA GGCCGAGTTGGAGGAATCATCACGTGAGGCCAGGAGTTCAAGACCAACCT GGGCAACATGGCAAGACCCCATCTCTACAAAAAATTTTAAAGTTAGGTGT GGTGGTGCGAACCTGTAGTCTCAGCTGCTCGGGAGGCTGAAGCAGAAAGA TCGCCCCAGTGTGAGAAGTTGAGGCTGCAGTGAGCTGTGATCACATCACC ACACTCCAGCCTGGGCCACAGAGCGAGACCCTGTCTCAAAAAATTCAAAA ATGTAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCG TGTTGGTGCTCGCCTGTAATCCCAGCTATTGGGGAGGTTGACGAAGGAGA ATTGCTTGAACCTGGAAGGCAGAGGTTACAGTAAGCCAAGATGGTACCAC TGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTTTCAAATTTATTTAT TTTTATTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTG CCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGTGTGCCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	382	0.0026	-2334	c.58 others(11): Show c.5840_*8173del	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		2350		chr19	TogoVar
NMRK2_chr19_3928069_3947416	3930431	TCTCCTGA others(2327): Show TCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGGTT ACAGGCGTGAGCCACCGCGCCCGGCCAAACAGACACTTTTTTAATAAATC AAGATGAGAGTCACTTAATATAAAATTAACCATTTTTTTGTTTTTTCATT CTTTTTGAGATGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCAGCTCACTGCAAGTTCCGTCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCA GCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCT CGATCTCCTGACATCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCATAGCATACCCGGCCTAAAATTAACCATTTT TAAGAGTACATTCTTCACAATGTTTTGCAAATACCACCTCTATTAAATTC CAGAACATTCCATTACCCCAAAAGTAAATCTGTCCCCAGCAGCCACAGTC ATCCCCACCCACCTCCCCCAGCCCCTGGCACCCACGCGTCCCCTTCCTGT CCTCGTGGATTGACGTGTCCTGGGCATTTCATGTAAATGGGATCACTGCA CCGTGGGGCAGTGAGGTCGCTAATCAATACCCTGGGACCTGGGACTGCTT GGGGACTGGCAGGCATTTGTAGCCCCTGTGGCTTCTCCCTCTCCTTCCTG CCGGGGTGGGCTGGCACAGGGAGGCCTCCCAGAGGTGCCCTGCCAGGGCC TTTATCTGGGCATGTCACTGTCACCTGAGGCCCTGGGCCACGTGCCCCAC CAAGAGGCTGCCAGGAAATTCTTGCCACCGAAACTGGGCCAGAGGTGAAG CCCAGGAGCCGGGCTTTCCTGGGTGCCTGCTTGAGCACCTGGAGGAGCTC TGGCCACAGACATAGCCACCCCGCTGCACTGCCACAGATCCTGTGGCTGA CTGCTTTTTCTGAGCTTTCCTCATGAATACCCCAAGATTTCCAGTCCATT TTGCAAAAGCTCTTGAAGTCCAGGGTCACAATTCTGTTAACAGGACTCAT AAAGTACATCATTGGTCGGGCGTGGTGGCTTAAGCCTGTAATCCCAGTAC TTTGGGAGGCCAAGGAGGAAGGATCACTTGAGGCCAGGAGTTAGAGACCC GCCTAGGCAATGTAACAAGACCTCATCTCTTAAAAATTCTCTCTCTCTTT GGTGTATTGATCTCTTACTGCATACAGACATACAAACTTGGCCATCCTAT CACCCCACCTTCCTAGTCACTTCCCATCCTCTGATCACCCCCCTGCTCCT GGGCTATAATTTCCCACTTTTCCTTGTATTGGTGGAAAGGGAGAAGATTG AATTCAATCTCCCTCCCATACTACAAAACCCCATGGTAGTAGTCCCTCAC CCGCCTCAACAAAGTCAGCCTTACTGTTTTAAGAAGCATCAGAAAAATTA TTTTCTGGTGGGGAGAGGCGTCACATGCCTGTAATCCCAGCACTTTGGGA GGCCGAGTTGGAGGAATCATCACGTGAGGCCAGGAGTTCAAGACCAACCT GGGCAACATGGCAAGACCCCATCTCTACAAAAAATTTTAAAGTTAGGTGT GGTGGTGCGAACCTGTAGTCTCAGCTGCTCGGGAGGCTGAAGCAGAAAGA TCGCCCCAGTGTGAGAAGTTGAGGCTGCAGTGAGCTGTGATCACATCACC ACACTCCAGCCTGGGCCACAGAGCGAGACCCTGTCTCAAAAAATTCAAAA ATGTAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCG TGTTGGTGCTCGCCTGTAATCCCAGCTATTGGGGAGGTTGACGAAGGAGA ATTGCTTGAACCTGGAAGGCAGAGGTTACAGTAAGCCAAGATGGTACCAC TGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTTTCAAATTTATTTAT TTTTATTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTG CCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGTGTGCCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	402	0.0025	-2334	c.-29 others(10): Show c.-2961_-628del	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding		2637		chr19	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(2327): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01358.hp1 HG03490.hp2 others(2): Show HG01257.hp2 HG01358.hp1 HG03490.hp2 NA18951.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0054 a0002c0002t0001 a0002c0007t0054	a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 others(2): Show a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0210 a0002c0007t0054g0143	5	314	0.0159	-2334	c.462 others(15): Show c.462+36_462+2369del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744781	TTCGCCGT others(2327): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18971.hp1 NA18943.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0306 a0001c0003t0010g0308 a0001c0003t0010g0306 a0001c0003t0010g0308	2	203	0.0099	-2334	c.462 others(16): Show c.462+128_462+2461del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744873	CGGGGTCG others(2327): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0267 a0001c0001t0008g0267	1	282	0.0035	-2334	c.462 others(16): Show c.462+242_462+2575del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89829649	GGTGGGGG others(2326): Show GGTGGGGGCCGTTGTGCCCCACCCAAGGGCCCTTGTTCCTTCACCAGGTC CTGCTCATCCTGGAGCCCCCCCCTCAGCTGCCTCCACACTCCTGCCATTT GCAGTATCCCACACAGGTGACAGCAAGAGCAGGCCCTGAGGTTTTACTCC CTCTGGAGAAACCTGAGGCGCAGGCTTGCGCTGGCACTCAGACAGTGGCA GCGTTCAGATTCACTGTGGCGTCCCTCAGGGCTGTGCCCACTGCCGCCCA GAGGGTGGGGTGAGACGGCAGGTGCATGGGGCCCAGGAGGCTGCATGCTC ACAGAGCCTCTGTGAAAGGGTGCCTGGACTTCACCCCATTCCTGGAGATA AGTGCAGAGCAGGAGGAGGCTGTAGGCAGCCTGGTTCGTCTGACCCTCTG ACTGTAAAGATGGGGAAACCGAGGCACACAGTGGTAAGTGGTTTGCCGGG TGGTTAGAATCCAGAGCTCCTCATTTGTCCTAGCTGTGCGGGAGCCCAGC CGCCTGCTTCCTGTTGGTGCTGTGCAAGGCGTCCTCAGAGCAGTGATCTG ATTCTCTCCACCTCCATCCCTGGGTGGTGTGGCCCCTTCCTGGTCCTCAC AGCCCCGGCAGCAGTTCCTGGCTGGGGTTCAAAGTTCAGGTAGGGCACTG TGTTGACCTTAGGGGGTGGTACCCACCTGTGGTCCAGTTCATTTTTTATT TGATAACGATCTTTGTTTTCTGTTCATAACCCTGTCTCATGAAGGCGAAT GAGTTTTATGACTTGCTCTCTCTTGAAGGTTTAAGAAAAATCTATTACCC TGAACTTTCTGTGCCATCCTTGTGGTGCTTCTGAGTCAGCTGAGACATCA GGCCAGCTGTCTCCTCAAAGGTGGCTAACCCAGCCTTTCTCTGGGACTTA AGTGATAAGTAAATACATTAAAAGATGCATACTTATTTCTCCCTGTAGAT ATCAATAGGAAAACATCCAATCTCACTTGTTGGCATTGTAGTCTCAGTTT TTTGCTCCAGTTGAATTTCTCAACCTGTAACCTTGGGTCTTCAGTACCCA CCCTCTCACACAAACTGAATATGGGCAGTAGGTGTGTAAAACCACTTTGA AAAAAACCAACAACAAACTAGACCATACTTAGGAGGATGAATAATATTAT CTTAGCACACAAGTAGTAATACTTCTCATTTCCAAGCCAAGATTAGGAAA AAAATGACTAGAAGAGACTTCCTAATCTTTACTCTGAAGACTTTGTAACT GCTTAGAATCTTTTTTTTTTTTTTTTTTTGAGAGGGAGTCTCGCTCTGTT GCCCAGGCTGGAGTGCAGCGGCACAATCTCTGCTCACTGCAAGCTCCACC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCTGCCCACCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACT GCGCCCAGCTGGGTGGTTTCTCAAATACATCTCAGACGTGGTGCTAATGA GGGTCTGTGTGGTCCATGTGCAAGGTGGGTGGGATGGCCCTTCCTTCCGT CACCTGCCCTCTTCACCCTGATTGGCTACTTTACACGTGACCCTATTTTT TGAATGTTTTTTCTTGTCAACTTTGGATGCTAAACTTTTTTTCTTTCTTT CTTTTTTTTTTTTTTTTATGAGACAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGTTCTCGGCTCACTGCAAGCTTCGCCTACTGGGTTCAC GCCATTCTCCTGCCTCAGCGTCCCGAGTAGCTGGGACTACATGCGCCCGC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACT GTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCACGCCTGGCCTG GATGCTAAACTTTTTCACAGGCAGGCCCCGCTCTTTACGCTAGGATGCCC CACGTTGCTGGTCCTCCAGGTATCCCCCGCCCTTTCTCCTGCCCCTCCCC CTTCTGCCCGGCTCTCAGGCCATCTGCCTCTAAGGCACCCTTAGAGCACT GGCTCTGGGGTTCTGCTGTTTCGCAGCCCCGCGCACTCCCAGATGTCTAA GCCTTCCCAACCTGTTCATCTCGCGGCCTGTGTTCTAAACAGAAACATCC ATAGTGATCTAGGCAGCACGGGGCACCGTGTCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	354	0.0028	-2333	c.244 others(16): Show c.244+856_244+3188del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14			chr16	TogoVar
RIMS4_chr20_44746808_44815546	44762210	CGGTAACG others(2325): Show CGGTAACGCTCGCTCGCCCACCGCTCACCTGCTCTGCAGCCTGGTTCCTA AGAGGCCAGGGACCAGTACCCCTGGGGGAGGCCCCTGGGGTTGGGGACCC CTGACCTCTTTCACACTGGTGACATGGCCTTTCCTCCATGCCCCTGGGTC TCTTTTCCACCCTACCCTCCCAGCCATCTAGGGGGCCAGCCTCCATTTTG TAAGGAGTGTCTGGGCTCCAAAAGCCTGAGAAATGGTGGGGGTCTCACGG ATTCCAGGCATGGAAGGAGCGCAGCCTCCCAGGCAGAGGGAGGCCCTCTG CAGCCTGAAATTGAAAGTTTCCTCCAACGTCATCATTGTCTGCTTCTCAG TTCCTGGTGGGATTGTGAGCAGACAATGGGGAACTGGCAGGCCTGGTAAT TAGCGGTAATTGTTTATAATATCTGGGCGGCTGCCTGATTTCCTATCCCA GGGAGCCTTGCTAGCTGCCAAGGAACCCGGCTGACGCCCCAGAAACCCTG AATAGGTTATCACGTCCTCCTGGGGGCTGGAGGAAGGAGGAATAAAGTGG TGGCTGGGCCCTACTAGGCCAGAAATCCAACTGCGGGTCTTCCCTGGAGT ACACAAGAAGGCAGAGGCCGCAAAATCAAATCTGCCTCTACAACTCACTA GCCAACTGCTTGCTGTGTGACCTCTGACAAGTTGTTATTGTCTCTGCATT TCAATGTTCTTATCTGCAAATGAAATCACACTGCCTCATGGACAGTGTCT GGCCTTTTTGTTGGCCAGTGCCTGTGCTGTCTCAGTTTCAAATGTTTTTC AAAATTTCTGCTTACGGCATCCATGAGCACAGGGGTATAAAAGAGCTTAT TGCATTAAGTGCTGCATATGTGCTACAACTTTGACAAGTCCTTGTATGCA ACAGGAGCTCAATAGATGTTCACTGCCAAACCCTACAGCAGGACTTACAC TGGGAAAATAAAGGATGGAGTGAAGACTGGATTTGGCATAACGCAGACCC TGGATGCCAGTACTGTACAACCTGTGGCAAGTGTCTTAACCTCTCTGAGC TGCAGTTTCCTCATGTAGAAAATGGGAATAAATAGTAATTACCTTGCCGA GTTGTTGGGGAGAGTCAGAGAGCTAGTGTAGGCAAGGTGCTTTAGCACAG AGGACCTGCTGAGTGAATCAAAGGGTGAGATACCATGGCCTGCTGGGCCT GCTGCCTGGCCTGGGAGAGCCTCCTTGCCACATTCTTGGCATTTTCATGG CATTTCAGATTCTAGACCTGTTAGTAAGTACAGCATCTGGATGCCTGAGA ATAAGCCCAAGCCATTCTGGGGAGTACTGCAGCAGCGGGTCCCTTCCAGG GACGTGTGCCACTTGGACAGGCGCAAAGCCCTGTAACAGGATTACAACCC ATGTTCTGCTGGCCTTTTATTTTGTGTTAATGGTGAAATGAGATTCCCTG CATTTCAAATCCTATTACTTTTGTTTGTGGAGCTGAAACCCATTGGTCTT TTATTATTAACCTCTGAGCTTGGTTTGGCCCCTGGATTTTCTGTGTTCTT GATGGTGAAAGAAGTAACTGGCTCACGCAGGGGTTTGACTCCATTCTCTT TTCCAGATGGATCACTCGTCTCAACAGCATCAGAAATTAAAAGGTTGCAC AGCCCTTGTGGTGATTATAGGTTATGTGATTCTCAAAGGTTTAGGAGTTT ACGGGTTCCCTGTCCATCCATTCACTACATGCTCACCTATCCATCCATCC ATCCATTTATCCATCCATCCATCCACCTATCACTTCATCCATCCATCCAT TTATCCATCCATCCATTTATCCATCCATCCATCCATTTATCCATCCATCC ATCCATTTATCCATCCATCCATCCATCCATCCACCCATCCATCCGTCCAT CCATTTATCCATCCATCCATCCATCCATTTATGCATCCATTTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCATCCATCCAT CCACCCATCCATCCATCCGTCCATCCATTCATCCATCCATCCATCCTCCC ACAAACTCACCAAGCCTACAATGCAATCAATTCTGCTGTAACATGAAATA TACATTTCTAAAAATTACTGTGCAACGCAAAATCTTGCTATAAAAATCAC ACAGCTTATGGGAAAATGGGGTCAGTGTCACATCAAAAACAGAAAAAGGC AAGAATGCAGTAAAAATGAAAGCATGGTTTTAAATATGTTAAATGCTTTA GAAATGCACAAATACTACAATAAAAATGGCATTTGACCTTGAAAATGACC TGCAGTTTGCTTGTGGAAGTGGGTGTCGGAAGA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0045 a0001c0001t0016g0045	1	380	0.0026	-2332	c.237 others(17): Show c.237-6358_237-4027del	RIMS4	ENSG00000101098.13	transcript	ENST00000372851.8	protein_coding	2/5			chr20	TogoVar
IL3RA_chrX_1331785_1387689	1369722	CCTCCAGC others(2323): Show CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATC TCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGATGACCCTG TGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCA GGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGG GCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTA TTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACG AGGACACAGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGAAG ACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCC CACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAGTG TTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAG ATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGA GGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGG AGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCT CCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCC CAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAGTAAGACATCTCA TAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGG GACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAG GAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTG TGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCT GTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGA CACAGACACACAGAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGG CATCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGAT GGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAG AGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAG GAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACC TCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGC CCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTC ATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGG GCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGG AACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGT GGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTG TGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGAC ACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGC GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACAC CTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGA GGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGA GAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTC CAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCC AGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCAT AAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGGG ACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGG AACCAGCCCTGCCCACACCTGGATCTCAGAA	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	113	0.0088	-2330	c.874 others(17): Show c.874+4612_875-6466del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1374108	GGGCCTCA others(2323): Show GGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAG AAGAGACGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGCACA GGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCA GCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACAC AGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGA AGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAG GGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAG CCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGA ATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAG CAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAGGACACA GACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGA CCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGG CCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCT CCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTC TGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAG AGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAG GGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAG CCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGA ATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAG CAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACA GACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGA CGACCCTGTGGGACACAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCC TCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCC AGGGCTGTGGGAGAATCAATGTGTTTTGTTTCCAAGCCGCCCAGCCTCTG GTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAG GACATGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGG GAGAAGACGGCGTCTCCAAGCCCAGGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	113	0.0088	-2330	c.875 others(17): Show c.875-4531_875-2202del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1374538	GCACAGGG others(2323): Show GCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGG AACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGT GGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTG TGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGAC ACAGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGC GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACAC CTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGG ACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGA GGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCA GCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAG CCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAGTAAGACATCTCATAA GAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGAC ACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAA CCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGG GAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTG ACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACAC AGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGG GACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGA GGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCA GCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAG CCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAA GAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGAC ACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAA CCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGG GAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTG ACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGA CACAGACACACACAGAGGGACGACCCTGTGGGACACAGAAGACGGGGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCCAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGA CGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAG AGGCCTCAGGAGGAACCAGCCTTGCCCACACCTGGATCTCAGACCTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACACCTCATAAG AAGAGGAGATGAGGACACAGACACACACGGAGGAACAACCCTGTGAGGAC ACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAA CCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGG GAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTG ACAGCAGCCTGAAACGGACTAAGACATCCCATAAAAAGGAGATGAGGACA CAGACACACACGGAGGGACGACCCTGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	112	0.0089	-2330	c.875 others(17): Show c.875-3946_875-1617del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
ME3_chr11_86436108_86677616	86593188	TCCACCCT others(2321): Show TCCACCCTCCTTCACTCACATAGTAAAAGTTAGCTACTGCCTGCAACATA CCAGGCACCGTACAACACGAAACTGTAGGCTCCCCCTCCAGGAAGTGACA ATGTCATTCCTAACCTGTTGGAATTTTAACACCTGTCATAAAAGGATCTC ATGATGCTTTGAATACTTTCTCGAAAGGTGTCACATGCTGCAAGAATAGT AAGGACAGCAACAGCTATCATTTCCTACTTGGGTTGCATGTTTAATATTT CGTAAAACAATACTTTCACATATATCATATGAGCCCCACAAAGGCTCCAG AACTTCAGCATACAACCAGTAAGTTGCAGAACTGGATCACAAGCCCGACC TCCATCTCCCTAAGTTCAATAGGAATTTTCTGATACATTTTCTCCCAAGT TTGAAAGTAATATTACGCACAGAAAAGTTGGAAAAAAATAACCACACCTT ATTTTCATCACCCAGAGATAGCCACTGTATCATTTTGTTCTATTTTCTTC CTATCTTTTTTCTATGCTTAAAAAAATTTTATTTAAACAAACTTGAGATC ATACTATGTATAAAATTTTTTAGTCTTTTTTCCCCACTAAAAATGTTATG ATTAGCATTTTCCCACATACTAAAACTTCAGCCTAAAATGTTATTAAAAA ACAGAAAAACACAGCAAGCTTTATCTAGTAATTCCTGTTTTATATAATTG TTTCCAAACTTCCACAATTATGAATTATGCTGTAATGAGCACAAAACTTT TTGTTTCTGATTTTTCTTCAGATTGAACTATAAGTGTACTTAAGAGACTG ATGACTCATTCTTTCATTCAACAAATATTTAATAAGCACCGACTAGGTAC TGGATACCATTATAAACTGACGATACAGTAATAAGGAAACAAAGTAAAAA AACAGACAAGATATCCCTGCCTTCATGAAACTTACATTCTAGAGATATCA ACAGTTTTAAGTATCTGTACGCATACTGTCAAATCACTTTTAGAAAGGTC GAACTATTTTATAACTCCAGTACATAAGTAGCTGTCTTACTACATTTTCA CCAATGCTGAGTATTATGATTTAAAATTGTTGCTAATTTATAACACTTAA TAAAAATATTGCATTCCTTAGAGATTTTTCTCCTTTGCTCTCTACCTCCA TATATTCACCTCATCATAAAATACAAGTACATTGAAGAGACATTTAAGTT ATCATCCAAAGTTGGTCTCCTAGCTGGGCATAATGACTCACAGCTATAAT CCCAGCACTTTGGGAGGCCAAGGTGGGTGAAGCACTTGAGCCCAGGTGTT TGAGACCAACCTGGGCAACATAAAAACACCCCATCTCTACAAAATAATAA TAAAAAAATCAGCCAGGTGTGGTGATGCATGCTTATAGCCCAGCTACTTG GGAGGCTGAGATGGGAAGATCACTTGAGCCCGAGAGGTCAACGCTGCAGT GAGCTGTGATTGCACCACTGACACAGCAAGACCCTTTCTCAAAAAACAAT ACAAAAAAACACAAAAAAACAAAAAAACGAAACAAAGTCTGCTCTCCAAA TGTGAAATTTCAAAAGATTTTTCCTGCCTGCAGTGAGAAAATAATCCCAG TCCCAAAGCAGGGATGGCAAGAGTGGAAATGCCTCTGATACTTTGCAAGG TAGCCCTTGAAGGTAGCAAAAAATAATGATGACAAATCAGTGCCTTGTTA GGGCCTGATATGTCTGGGGACTGAGTCAGCAATGAGTTTCTCCAGTGAAA TGCTAGGCTTCTGTGGGGGATGAGCTAGGACAAGCCAGGTGGGGACTCTG CAGGGGTGGTAAGGTCAGATTCAAATGAGGCTCTTTCATGAAAGCTCCTG GTCAACTATAGAGCATTCACAATAGAAGGGAGTTTTGCTCTTTTTTAATA GAGGCCTTTAGAGGATGTTGAGGACTTTGACAAGGGCTAATAATAAGAAA AAGGGGATAAGCATATGTATGGAAATATAAAAATAAGTAAATAAAATATA AATAAAGAAATAAAATAGGTAAAAATATGTGTTTAATATTTTTGGATTGT TTATCACATGTTAGAAATTTTCAGAATACTCTATTTTACATATATATACA TATACATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGCTTAT TATGTATCAGTCACTGGTCCAGGCACTTTGACTCATGTAACCATAATTGA CTTATAAGGTAAATACTAGCATTATCTCCATTTGACAGATGAAGAGACTG AAGCTTAGAGAGTTAAGTACTTATAAAGCCAGGATCTGATCCCAATTAGT CTGCCTTTAGAGTCTGTGCTCTTAAACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp2 others(76): Show HG00099.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18941.hp1 NA18949.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19084.hp1 NA19085.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(7): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0001c0015 a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0002c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001 a0001c0010t0006 a0001c0012t0001 a0001c0015t0002 a0002c0003t0002 a0002c0004t0002 a0002c0005t0002 a0002c0008t0001 a0002c0008t0002 a0002c0018t0004	a0001c0001t0001g0061 a0001c0001t0002g0217 a0001c0001t0002g0234 others(76): Show a0001c0001t0001g0061 a0001c0001t0002g0217 a0001c0001t0002g0234 a0001c0001t0002g0260 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0002t0001g0038 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0228 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0271 a0001c0002t0002g0287 a0001c0002t0002g0290 a0001c0002t0002g0296 a0001c0002t0002g0301 a0001c0010t0001g0083 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0006g0319 a0001c0012t0001g0173 a0001c0015t0002g0227 a0001c0015t0002g0229 a0002c0003t0002g0249 a0002c0004t0002g0225 a0002c0005t0002g0216 a0002c0005t0002g0248 a0002c0005t0002g0253 a0002c0005t0002g0254 a0002c0005t0002g0255 a0002c0005t0002g0258 a0002c0005t0002g0262 a0002c0005t0002g0263 a0002c0005t0002g0264 a0002c0005t0002g0269 a0002c0005t0002g0314 a0002c0008t0001g0125 a0002c0008t0002g0233 a0002c0008t0002g0252 a0002c0008t0002g0265 a0002c0018t0004g0284	79	318	0.2484	-2328	c.184 others(19): Show c.184-35693_184-33366del	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
BMP8A_chr1_39486636_39534869	39532542	CCCCAGCA others(2320): Show CCCCAGCACTTTGGGAGGCCAAGGTGCGCGGATCACAAGGTCAGGAAATT GAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAA AAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGA GGCTGAGGCAGGAAAATGGCGTGAACCTGGGAGGTGGAGGTTGCAGTGAG CTGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGTGAGACTCCAT CTCAAAAAAAGAAAAAAAAAAGAACTATTAAACAAGTTTAGCAATGTTGC AGAATACAAAATCAATATACAATTGATTATATATATTTTTGTAGAGATGA GGTCTCATTATGTTGACTCGGGCTGGTCTCAGACTCCTGGACTCAAGTGA TTTTCCCACTTCAGTCTCCCAACGTGCTGGGATTATGAGTGTGAACCACC ATGCCTGGCCTGTTTTGTGGTTTTCAAAGTATAAGCTGTATACATCTTTT AAACTTATTCCTAAATATTTTATTCTTTTTTATGCTATTGTAAGTATAAT TGTTTTTCTTTTTATTCTGTTTTCAGGTTGTTCATTGCTGATGTATAGAA ATATAATTGCTATATCTACGGCCAGGCACGGTGGCTCACACCCGTAATCC CAACACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAG ACCATCCTGGCTAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAA ATTAGCTCGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATGGCGTGGACCCGGGAGGTGGAGCTTGCAGTGAGCTG AGATGCTGCCACTGCACTCCAGCCTGGGCGACATAGCAAGACTCTGTCTC AAAAATAAGAAAAGAAATATAATTGCTATATATATATGTGTGTGTATTTT TTTTAGAAGAGTCTTGCTCTGTTGTCCAGGCTGGAGTGCAATGGTGCAGT CACAGCTGTCTACAAAAATATTTTTTAAAATTAGCCAGGTGTGGTGGTGT GTGCCTATAGTTCCAACTAGTTGTAAAGCTGAAACATAAGGACCACTTGG GTACAGGAGTTCCAAGACTGTGGTGAGCTGTGATTGCACCACTGCACTCC AGCCTGGGCAATACAGTGAGACCCTGTCTAAAAAAAAAAAAAAAAGAATG AGAGAAACTATTTGCAAATTATACATCTGATAAGAGACCTGTATCTAAAA TATTTAAAGAATTCTGACTCGCTAGGCATGGTGGCTTACATCTATAATCC CAGCATTTTGGGAGGACAAGGTGGCAGGATTGCTTGAGCCCTGGAGTTCG AGACCAGCCTAGATAACATAGCAAGACCCCATCCCAATTAAAAAAAAAAA AAAAAGAAAACCAAAGAACATTACTGAAAAACACTGAAGAAGACCTAAAC AAATGAAAAGATATCCTGTGTTCATGGATCAGAAGACTTAATATTGTTAA GATGATGATACTCCTAAATTCTTCACATTCAGTGCAATCTGTATTAAAAT CCTAGCTGGCTTTTTTCATACGAGTTGATAAGCTTATCCCAAAATTCTTA AGAAATGTAAGAGACTCAGGATAACCAAAACAATCTTGAAAGGAAAAACA AAGTTGGAGGACTCGCATTTCCAGAATTAAAAATTTACTACAAAGCTATG GAATTTAAGACACAGTAGTAATGGCCTAATAACAGACATACAGATCAACA AAATATAATTTAGAATCCAGAAGAAACCCTTACATTTATGGTCAACTATA TTCACCAAGGATACCAAGACAATTAAACAGGAAAAAAACTAGCCTTTTCA ACAAATGGTGCTAGGACGACTGAAAATCCACATGTAAAAGAGTAACGCTG GACCACTTTCCTCACACTATACACAAAAATTAACTTCAAATGGAGTAAAG ACTTCAGTGTAAGAGAGAAAACCATAAAATACTTAATAGAAAGTGTAGGA GTAAATCTTCATAATCACTACACCAAAAGTACAAGTGACAAAAAAAGATA AATTAGACTTTATCAAAATTAAAATATTTTGTGCTTCAAACGACGCCATC AAAAAAGTGAAAAGACAACCTATAGAATGAAAGAAAAGGCCGGGCGCAGT GGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCA CTTGAGGCTAGGAGTTTGGGACCAGCCTGGGGAACGAAGTGAGAGCCCCA TCTCTACAAAAAATAAGAAAAAATTAGCCAGGCATTGTGGTGCATGCCTG TAGTTCCAGCTACTTAGGAGTCTGAGAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp2 others(27): Show HG00642.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp2	a0004 a0008 a0012 others(1): Show a0004 a0008 a0012 a0014	a0004c0004 a0004c0008 a0008c0010 others(3): Show a0004c0004 a0004c0008 a0008c0010 a0008c0032 a0012c0018 a0014c0036	a0004c0004t0004 a0004c0004t0020 a0004c0008t0004 others(8): Show a0004c0004t0004 a0004c0004t0020 a0004c0008t0004 a0004c0008t0011 a0004c0008t0020 a0004c0008t0058 a0008c0010t0004 a0008c0032t0049 a0012c0018t0020 a0012c0018t0052 a0014c0036t0061	a0004c0004t0004g0011 a0004c0004t0004g0026 a0004c0004t0004g0029 others(18): Show a0004c0004t0004g0011 a0004c0004t0004g0026 a0004c0004t0004g0029 a0004c0004t0004g0079 a0004c0004t0004g0081 a0004c0004t0004g0100 a0004c0004t0004g0104 a0004c0004t0020g0080 a0004c0008t0004g0084 a0004c0008t0011g0010 a0004c0008t0011g0083 a0004c0008t0020g0082 a0004c0008t0058g0088 a0008c0010t0004g0030 a0008c0010t0004g0099 a0008c0010t0004g0102 a0008c0010t0004g0105 a0008c0032t0049g0101 a0012c0018t0020g0107 a0012c0018t0052g0106 a0014c0036t0061g0252	30	360	0.0833	-2327	c.67 others(11): Show c.6745_*9071del	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding		2674		chr1	TogoVar
IL3RA_chrX_1331785_1387689	1373856	CATCTCCA others(2320): Show CATCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCCCTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAAAC GGACTAAGACATCCCATAAAAAGGAGATGAGGACACAGACACACACGGAG GGACGACCCTGTGGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAG AGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCC AGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCA GCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATA AGAAGAGACGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGCA CAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAAC CAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGG AGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGA CAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGAC ACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGC GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACAC CTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGG ACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGA GGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCA GCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAG CCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAA GAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCAC AGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAGGACA CAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGA AGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACAC AGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACA CAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGG GACGACCCTGTGGGACACAGAAGACGGG	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	109	0.0092	-2327	c.875 others(17): Show c.875-4802_875-2476del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar

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