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
KIF25_chr6_167992671_168050091	167997234	G G	GGGGTCGG others(843): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAA TCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	362	0.0028	850	c.-22 others(861): Show c.-2235_-2234insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		436		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997483	G G	GGGGTCGG others(843): Show GGGGTCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGAT GGGGGGTCGGGGGAATGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	367	0.0027	850	c.-19 others(861): Show c.-1986_-1985insGGGTCGGGGGAATCTGCAGAGATAGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTG CAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATGTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		187		chr6	TogoVar
LHFPL3_chr7_104323603_104913561	104824264	T T	TTATATAT others(843): Show TTATATATTATATATATAATATATATATTATATATTATATATATAATATA TATATTATATATTATATATTATATATAATATATATATTATATATTATATA TTATATATATAATATATATATTATATATTATATATTATATATATAATATA TATATTATATATTATATATTATATATATTATATATATATTATATATTATA TAATATATATATTATATATTATATATATTATATTATATATTATATATATA ATATATTATATTATATATATTATATAATATATTATATATTATATATATAT TATATAATATATTATATATAATTATATATATTTTATATATTATATATTAT ATATTATATATTATATATTATATTATATATAATTATATATATTTTATATA TTATATATTATATATTATATATTATATATTATATATATTATATTATATAT TATATATTATATATTATATATTATATATACAATTATATATATTATATATA TTATATATTATATATATTATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATATATATATACATA TTATATATATATAATATATATTATATATATATATATTATATAATATTATA TATTATATATATATATTAATATATATATATATATTATATATTATATATTA ATATATTATATATATATATATATATAATATAATTATATATATATATATAA TATATTATATATATAATATATATATATAATATATATTATATATATATTAT ATATATAATATATATTATATAATATATATTATATAAATATTATATATATA A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	72	0.0139	850	c.683 others(869): Show c.683-81910_683-81909insTATAATATATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATAATATATATATTAT ATATTATATATTATATATATAATATATATATTATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATATTATATATATATT ATATATTATATAATATATATATTATATATTATATATATTATATTATATAT TATATATATAATATATTATATTATATATATTATATAATATATTATATATT ATATATATATTATATAATATATTATATATAATTATATATATTTTATATAT TATATATTATATATTATATATTATATATTATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATTATATATTATATATTATATATTATATATTATATATACAATTATATAT ATTATATATATTATATATTATATATATTATATTATATAATATATTATATA TATAATATATATTATATATTATATATTATATAATATATTATATATATATA TATATACATATTATATATATATAATATATATTATATATATATATATTATA TAATATTATATATTATATATATATATTAATATATATATATATATTATATA TTATATATTAATATATTATATATATATATATATATAATATAATTATATAT ATATATATAATATATTATATATATAATATATATATATAATATATATTATA TATATATTATATATATAATATATATTATATAATATATATTATATAAATAT TATATATATAATATATATTATATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(843): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTA TAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATA TATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATTTATATATATAGTTATAT ATTTATATATATTTATATATATTTATATATATATTTATATATTTATTTAT ATATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTT ATATATATTTATATATATTTATATATATATATATAAATATATTTATATAT ATAAATATAAATATTTATATATATTTATATATATTTATATATATATTTAT GTATATTTATATATATTTATATATATATTTATGTATATTTATATATGTAT T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	80	0.0125	850	c.125 others(867): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATATTTTTATATATATTTATATATATT TTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA TAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTTATATATATAGTTATATATATATATTTTT ATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATAT TTATATATATAGTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATTTATATATATTTATATATGTATTTATATATATTTAT ATATATTTATATGTATTTATATATATTTATATATATTTATATATATATAT ATAAATATATTTATATATATAAATATAAATATTTATATATATTTATATAT ATTTATATATATATTTATGTATATTTATATATATTTATATATATATTTAT GTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(843): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGCAAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA GCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACA GCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAG TGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	234	0.0043	850	c.-42 others(861): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCT GCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(843): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAT T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG02280.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0004 a0002c0012t0001 a0001c0001t0004 a0002c0012t0001	a0001c0001t0004g0081 a0002c0012t0001g0040 a0001c0001t0004g0081 a0002c0012t0001g0040	2	48	0.0417	850	c.483 others(865): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAT TATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRCAM_chr7_108142649_108461436	108163892	G G	GGGTGGGG others(843): Show GGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAG AGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGGT GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATA CCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAAT GAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGG GTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCA TACCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAG TGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGG GGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTC ATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGT GGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGG GTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCA GGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGA GGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTG GGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACC A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0105 a0001c0004t0001g0105	1	155	0.0065	850	c.346 others(869): Show c.3466+3028_3466+3029insTGGTATGACCTCTCACTACCCCACCC CACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCAT TACCGCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTA TGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCAC CCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTC ATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGG TATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCC ACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTC TCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCC GGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACC TCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCAC CCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTAC CCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGA CCTCTCACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCC ACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATT ACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTAT GACCTCTCACTACCCCACCCCACC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NXN_chr17_794310_984776	841393	C C	CGGCGAGC others(843): Show CGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGG TCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTC ACACGGGCAAGCAGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAG CAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCGACCACGGCGCATCTCACGCCCACGGGCAGGTCC CCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCTGACCACA GCGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCATGGCACATCTCACGCCGGCGAGCA GGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGA CCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATC TCACGCCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGA GCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGC GCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACAC G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	186	0.0054	850	c.361 others(869): Show c.361-15316_361-15315insCGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCCTGTGGGCGTGAGATGCTCCATGGTCGGGAGGACCTG CTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGT GAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGTGCCAT GGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGGGGACCTGCCCGTG GGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGCGTGAGATGC GCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGG GGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGA GATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGG TCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACC TGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841433	G G	GGCGAGCA others(843): Show GGCGAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCA CAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGC GAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGG AGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAG CATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACC C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	179	0.0056	850	c.361 others(869): Show c.361-15356_361-15355insGGGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCGGGTGTGAGA TGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGGACCTGCTCGCCCGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCATGGTCG GGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGA GATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCATG GTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGAC CTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCCGCTCGCCCGTGTGAGATGCTC CGTGGTCAGGGTGGACCTGCTCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841437	A A	AGCAGGTC others(843): Show AGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCC CTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGC GCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCACAGGCAGG TCCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACAGAGCATC TCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACAGA GCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGG TCCCCCCGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCA CGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCA CACGGGCGAGCAGGTCCACCCGACCACGGCGCATCTCACACCCACAGGCA GGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGA CCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCAT CTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACG G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	232	0.0043	850	c.361 others(869): Show c.361-15360_361-15359insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGT GGTCGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGAC CTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGC ATGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCCTGT GGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCAGGGGGGACCT GCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGGACCTGCCTGTGGGTGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCCATGGTCGGGAGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTTCCTTC others(843): Show CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTC CCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCC TCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTC CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCC TTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTCCTTC CTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCT CCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCC T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0126 a0001c0001t0009g0126	1	131	0.0076	850	c.773 others(865): Show c.773+645_773+646insTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCC TTCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTC CTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTT CCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTC CTTCCTTTCCTTCCTTCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PASK_chr2_241101099_241154472	241116001	C C	CGGTCCTC others(843): Show CGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCC CATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCC ACCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCAT CCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACACCAGGGG CCACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCCGGTCCCCAA GCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCA GGGGCCACCGGTCCCCAAGCATCCCATTACGCCAGGGACACCCGGTCCTC AAGCATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACAC CAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGCCACCGGTCCC CAAGCATCCCATTACACCAGGGGCCACCCGGTCCCCAAGCATCCCATTAC ACCAGGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGG TCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCTCAAGCATCCCAT TACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGACACCC GGTCCTCAAGCATCCCATTACACCAGGGACACCCGGTCCTCAAGCATCCC ATTACACCAGGGACACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCA CCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATC CCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGCC A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0021 a0021	a0021c0043 a0021c0043	a0021c0043t0001 a0021c0043t0001	a0021c0043t0001g0120 a0021c0043t0001g0120	1	322	0.0031	850	c.307 others(867): Show c.3073-589_3073-588insTGGCCCTGGTGTAATGGGATGCTTGGGG ACCGGGTGGCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGT GTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGG GGACCGGGTGTCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGTCCCTG GTGTAATGGGATGCTTGAGGACCGGGTGTCCCTGGTGTAATGGGATGCTT GGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGGCCC TGGTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGGTGTAATGGGATGC TTGGGGACCGGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGG CCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCTGGTGTAATGGGA TGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGAGGACCGGTG GCCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGTCCCTGGCGTAATGG GATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGG TGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCCTGGTGTAA TGGGATGCTTGGGGACCGGGTGGCCCCTGGTGTAATGGGATGCTTGAGGA CCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTG TAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGG GACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGG TGTAATGGGATGCTTGAGGACC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848461	C C	CGCACTGC others(843): Show CGCACTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTGAATGGGTGTATGAGAGCCTTGAGTTCTGGATGCTGG TGCGCTGCGCTGTCAATGGATGAATGAGAGCCGTGAGTTCTGGATGCTGG CGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGATGCTAG CGCGCTGCGCTGTCAATGGATGAATGAGAGCCGTGAGTTCTGGATGCTGG CGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGATGCTGG CGCGCTGCGCTGTGAATGGGTGTATGAGAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGACAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGG CGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGG CGCGCCGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	405	0.0025	850	c.25 others(861): Show c.2596_*2597insACCAGCGTCCAGAACTCACGTCTCTCATTCATCC ACTGACAGCGCGGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAACACCC ATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTTTCATTCATCC ATTGACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAACACCC ATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAACACCC ATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATTCATCC ATTGTCAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAACACCC ATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATACACCC ATTCACAGCGCAGCGCGCCAGCATCCAGAACTCACGTCTCTCATTCATCC ACTGACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATTCATCC ATTGACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAACACCC ATTCACAGCGCAGCGCGCCAGCATCCAGAACTCACGGCTCTCATTCATCC ATTGACAGCGCAGCGCGCTAGCATCCAGAACTCACGTCTCTCATTCATCC ACTGACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAACACCC ATTCACAGCGCAGCGCGCCAGCATCCAGAACTCACGGCTCTCATTCATCC ATTGACAGCGCAGCGCACCAGCATCCAGAACTCAAGGCTCTCATACACCC ATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTTTCATTCATCC ATTGACAGCGCAGTGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1422		chr2	TogoVar
PIP5K1C_chr19_3625183_3705468	3649063	A A	ATGCCCAC others(843): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0007 a0001c0022t0033 a0001c0001t0007 a0001c0022t0033	a0001c0001t0007g0055 a0001c0022t0033g0328 a0001c0001t0007g0055 a0001c0022t0033g0328	2	309	0.0065	850	c.112 others(867): Show c.1128-356_1128-355insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(843): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGG GGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGG GGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGAGGA GGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAG AGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGA GAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGG GCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGG GTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGA GAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGGTGAGAGAG AGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAG AGGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAGAGAGGGAGAG GGCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAA A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0027 a0027	a0027c0065 a0027c0065	a0027c0065t0001 a0027c0065t0001	a0027c0065t0001g0261 a0027c0065t0001g0261	1	24	0.0417	850	c.371 others(867): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTC TCTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCCGCCCTCTCTCTCGCC TGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCC CTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCA CCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCA CCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTC CCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCT CCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCT CCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCT CCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCC TCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTC CCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTCCCCC TCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCC TCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTT GTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCT CTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKP3_chr11_389209_409908	402285	C C	CCCCGCCC others(843): Show CCCCGCCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCG GACCCCGCTCACCCCCGCCCCGCTCACCCCGGGACCCGCTCACCCCGACC CCGCTCACCCCCGGACCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCT CCACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCAGCCCCGCTCACCCGCCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGACCCGCT CACCCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACC CGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACC CGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCTGCTCACACCGGACCCCGCTCACCCCCGGCCCCGCTCAC ACCCGACCCGCTCACCCCCGACCCGCTCACCCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCAC A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	198	0.0051	850	c.173 others(867): Show c.1738-791_1738-790insCGCCCCGCTCACCCCGGGACCCGCTCAC CCCGACCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACCCCG GGACCCGCTCACCCCGACCCCGCTCACCCCCGGACCCCGCTCACCCCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCCACCCGCCCCGCTCACACCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACCCGCC CCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACCCCCGGCCCCGC TCACCCCCGGCCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCC GACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCC GCTCACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCT CACCCCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACC CCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACCCGGGACCCCGCTCACACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(843): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGATGATGGTGG TGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGG TGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTG ATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGT GATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0069 a0004c0006t0001g0069	1	199	0.0050	850	c.-46 others(861): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGATGAT GGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGA TGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATG GTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGT GATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTG ATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(843): Show TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TATTATATTATATTATGGATAATATAATATATTATATTATATTATGGATA ATATAATATAATATATTATATTATCGATAATATAATATCTTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATATTATATTATGGATAATATATTATGGATAATAT ATTATATTATGGATAATATATTATGGATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATAATATATTATATTATATTAT GGATAATATAATATAATATATTATATTATGGATAATATAATATAATATAT C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0141 a0003c0004t0002g0141	1	130	0.0077	850	c.389 others(871): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT ATTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAA TATAATATAATATATTATATTATCGATAATATAATATCTTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATATTATGGATAATATA TTATATTATGGATAATATATTATGGATAATATATTATATTATGGATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATATTATG GATAATATAATATAATATATTATATTATGGATAATATAATATAATATATC ATATTATGGATAATATAATATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	217296	C C	CCCAAGGC others(843): Show CCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTC TGCGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTC CCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTG GCCTCGCTGAAATCAGGACCTCCAAGGCATTTCATTCCCATCTGGGGCAG TTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGG ACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTT CTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCAT TTCATTCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTCTGCACTAAAA TTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGG CAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGA AATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTACAGA GCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGG CATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGC ACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCTTG TTTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCAC TGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTAT GGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACC T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	131	0.0076	850	c.728 others(867): Show c.728-1495_728-1494insAGGTCCTGATTTCAGCGAGGCCAATTTT AGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAA ATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAG GGCTCTGTAATAACTGCCCCAAACAAGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAAT GAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGG GGTCCTGATTCCAGTGAGGCCAATTTTAGTGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGA GGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGA TGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGC GCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATGAAATGCCTT GGAGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGC TCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATT TCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCC AAACAGGAATGAAATGCCTTGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	217653	G G	TTGGGGCA others(843): Show TTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCT CCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCT GCGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCC CATCTGGGGCAGTTATTATGGAGCGCTTTCTTCTTCTGCACTAAAATTGG CCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGT TATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGA CCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTC TTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATT TCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAAT TGGCCTCACTGGAATCAGGACCCCGAAGGCATTTCGTTCCCATCTGGGGC AGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGTTGAA ATCAGGACCCCCAAGGCATTTCATTCCCGTTTGGGGCAGTTATTACAGAG CCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGC ATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCA CTAAAATTGGCCTCGCTGAAATCAGGACCTCCAAGGCATTTCATTCCCAT C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	19	0.0526	850	c.728 others(863): Show c.728-1851delCinsGATGGGAATGAAATGCCTTGGAGGTCCTGATTT CAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGC CCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAAT TTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACGGGAATGAAA TGCCTTGGGGGTCCTGATTTCAACGAGGCCAATTTTAGTGCAGAAGAAGA AAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTCGGGGTC CTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAAC TGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCC AATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGG AACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAG AAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCTTGGGG GTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGCGCTCCA TAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAG TGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGAT GGGAATGAAATGCCTTGGAGGTCCTGATTTCAGCGAGGCCAATTTTAGTG CAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGC CTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCT CTGTAATAACTGCCCCAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	217823	C C	TTGGGGCA others(843): Show TTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCC CCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCT GCGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCC CATCTGGGGCAGTTATTATGGAGCGCTTTCTTCTTCTGCACTAAAATTGG CCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGT TATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGA CCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTC TTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATT TCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAAT TGGCCTCACTGGAATCAGGACCCCGAAGGCATTTCGTTCCCATCTGGGGC AGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGTTGAA ATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTACAGAG CCCTTCTTCTGCGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGC ATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCA CTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCAT C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG01884.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0105 a0001c0002t0001g0123 a0001c0001t0006g0105 a0001c0002t0001g0123	2	123	0.0163	850	c.727 others(867): Show c.727+1800_727+1801insATGGGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAAT GAAATGCCTTGGGGGTCCTGATTTCAACGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTCGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGA GGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGA TGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGC GCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCTT GGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGCGC TCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATT TCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCC AGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTT AGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAA ATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAG GGCTCTGTAATAACTGCCCCAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	217823	C C	TTGGGGCA others(843): Show TTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCT CCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCT GCGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCC CATCTGGGGCAGTTATTATGGAGCGCTTTCTTCTTCTGCACTAAAATTGG CCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGT TATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGA CCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTC TTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATT TCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAAT TGGCCTCACTGGAATCAGGACCCCGAAGGCATTTCGTTCCCATCTGGGGC AGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGTTGAA ATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTACAGAG CCCTTCTTCTGCGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGC ATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCA CTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCAT C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0112 a0001c0002t0007g0112	1	122	0.0082	850	c.727 others(867): Show c.727+1800_727+1801insATGGGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAAT GAAATGCCTTGGGGGTCCTGATTTCAACGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTCGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGA GGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGA TGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGC GCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCTT GGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGCGC TCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATT TCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCC AGATGGGAATGAAATGCCTTGGAGGTCCTGATTTCAGCGAGGCCAATTTT AGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAA ATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAG GGCTCTGTAATAACTGCCCCAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	218163	C C	CTGGGGCA others(843): Show CTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCT CCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCT GTGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCC CATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGG CCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGT TATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGA CCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTC TTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCTCCAAGGCATT TCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCTGTGCTAAAAT TGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGC AGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAA ATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTACAGAG CCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGC ATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCA CTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGT T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0126 a0001c0002t0009g0126	1	125	0.0080	850	c.727 others(867): Show c.727+1459_727+1460insAACAGGAATGAAATGCCTTGGGGGTCCT GATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATA ACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGG CCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAA TGAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAA GAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGG GGGTCCTGATTTCAGTGAGGCCAATTTTAGCACAGAAGAAGGGCTCTGTA ATAACTGCCCCAGATGGGAATGAAATGCCTTGGAGGTCCTGATTTCAGCG AGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAG ATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAG CGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCT TGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGG CTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGAT TTCAGTGAGGCCAATTTTAGCACAGAAGAAGGGCTCTGTAATAACTGCCC CAGATGGGAATGAAATGCCTTGGAGGTCCTGATTTCAGCGAGGCCAATTT TAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGA AATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAA GGGCTCTGTAATAACTGCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(843): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATGTGCAT TGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGTTATGT GTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTTGTGTT GTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGTTTTTG TGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTGAGTTG TGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTATATGT GTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTAGGGGG TGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGGGTTTT TGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTGTATAT GTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTTGTATTGTGTGAGTG CATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTGTGTTTT GTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTGTGTATA TGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTGTGTGTA TGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGGGAGTTGTGTGT GTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTATGTCTGTTGTGT TATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGGTGTGTGTTGTA G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04115.hp1 NA18971.hp2 others(3): Show HG03704.hp2 HG04115.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0002t0001g0081 a0001c0003t0001g0093 a0001c0003t0002g0185	6	178	0.0337	850	c.135 others(867): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATG TTATGCATGTGCATTGTGTTGTGTGATTGTGATTGTGTGTGGTGTGTACG ATGTGTTGTTATGTGTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCT GTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACAT ATGTTGTGTTTTTGTGTTGTGTTATGTGTATGGGTTACATGTGTGTTGTG TATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTG CGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTA TAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAA TACGTAGGGGTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTA TGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTATGTGTT GTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGT ATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTG TTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGT ATGTGTTGTGTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGT GGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGT TATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGTG TGGTGTGTGTTGTAGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(843): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGA GGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGG A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0144 a0001c0005t0001g0144	1	2	0.5000	850	c.-12 others(869): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTATTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCC TCCTGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTT AGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTT CCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCAC AGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCG TCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACT GCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTC CTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(843): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGTGCTA GGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAG GAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGGAAC AGGTGCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGAC AGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGC ACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGCACAGGAGG A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02976.hp1 HG02976.hp2 others(1): Show HG02056.hp1 HG02976.hp1 HG02976.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0017 a0001c0001 a0001c0016 a0003c0017	a0001c0001t0001 a0001c0001t0008 a0001c0016t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0016t0001 a0003c0017t0001	a0001c0001t0001g0105 a0001c0001t0008g0106 a0001c0016t0001g0107 others(1): Show a0001c0001t0001g0105 a0001c0001t0008g0106 a0001c0016t0001g0107 a0003c0017t0001g0087	4	5	0.8000	850	c.-12 others(869): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCCTCCTGTGCCT CCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTC TCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGG ACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCG TCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACT GCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTC CTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43339790	T T	TAGCTCCA others(843): Show TAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAG CTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCT CCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCA ACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAAC CCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCT CCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCC CCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCC ACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCAC TCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCACTCTC CTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTC ATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATT CTACCCCCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTAT CCCCCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCC CCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCA CAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACA AGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCACAAGC ATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCA C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0064 a0002c0037t0064	a0002c0037t0064g0254 a0002c0037t0064g0254	1	276	0.0036	850	c.89- others(863): Show c.89-556_89-555insGTGCTTGTGGGGGGGGTAGAATGAGGAGAGTG GGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGG GGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTG GAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAG CTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAAT GCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCT TGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGG GGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGG GTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGA ATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATG AGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAG GAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAG AGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGT GGGGGGAGGGTTGGAGCT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SMYD3_chr1_245744347_246512279	246072180	T T	TTAGTTCT others(843): Show TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTCGCTG CATCCTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTG TGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTGGATGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTC CGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTG TGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGG ATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTAGTTCTGG GGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTA GTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTCGCTGCAT CGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTTCACTGTGCTCACTGTGG ATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTC ACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCAC TGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGC TTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATT CGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTAGTTCTGGGGA GGGATTCGTGTGCTTTTCACTGTGCTCACTGTGGATGCTTCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGT G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	133	0.0075	850	c.532 others(871): Show c.532-142244_532-142243insCACGATGCAGCGACAGTGAGCACA GTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGT GAGCACAGTGAAAAGCACACGAATCCCTCCCCAGAACTACACGATGCAGC GACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGG ATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCC CCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAA TCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGAAAAGC ACACGAATCCCTCCCCAGAACTACACGATGCAGCGACAGTGAGCACAGCG GAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAG CACAGTGGAAAGCACACGAATCCCTCCCCAGAACTACACGATGCAGCGAC AGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAG CATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAA CAGGAAGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCA GAACTAACAGGATGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCC CTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACA CGAATCCCTCCCCAGAACTACAGGATGCAGCGACAGTGAGCACAGCGGAA AGCACACGAATCCCTCCCCAGAACTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
THAP8_chr19_36029984_36059285	36055621	A A	ACCAAGGT others(843): Show ACCAAGGTGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTT TTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTC ATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGT CTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGT CCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCT GCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCA TTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGG GTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTG CAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGG GCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATT CCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGC ACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACAC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	437	0.0023	850	c.-14 others(861): Show c.-1405_-1404insGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCTCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCA CCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGA CAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGACTG AGAAATCGGATGGTTGCCCTGTCTGTGTAGAAAGAAGTAGACATGGGAGA CTTTTCATTTTGTTCTGCACTAAGAAAAATTTCTCTGCCTTGGGATCCTG TTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTGAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAA AAGAATCCCACCTTGG	THAP8	ENSG00000161277.11	transcript	ENST00000292894.2	protein_coding		1337		chr19	TogoVar
TMEM242_chr6_157284025_157328519	157311748	T T	TTCCCAGT others(843): Show TTCCCAGTGTGCACTCACCTAGCCTCAACATAGTGCCCCAGTGTGCGTTG ACCTGGCCTCATTATAGTGCCCCAGTGTGCAATCACCTAGCCTCATCATA ATGTCCTAGTGTGCACTCACCTGCCCTCATCATAGTAACGCAGTATCCAC TCACCTAGCCTCATGATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCA TAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGC ACTCACCTGGCCTCATCATAGGGTCCCAGTGTGCACTCACCTGGCCTCAT CATACTGCCCCAGTGAGCACTCACCTAGCCTCAGCATAGTGCCCCAGTGT GCACTCACCTACCCTCATCATAGTGCCCCACTGTGCACTCAACCGGCCTC ATCATAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCTTAGTGTTCCAGT GTGCACTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCC TAATGATAGTATCCCAGTGTGCACTCACCCGGAATCATCATAGTGTCCCA GTGTGCGCTCACCTAGCTTCATCATAATGCCCCAGTGTGAACTCAACTAG CCTCATCATAGTGCCCCAGTGTGCACTCACCTAGACTCATCATATTACCC CAGTGTGCATTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCT AACCCCATCATAGTGCCCCAGTGTGCTCTCACCTAGCCAAATCATACTGT CCCAGTGTGCACTCACCTAGCCCCATCATAGTGTCCCAATGTGCGCTCAC ACAGCCTGATCATAGTGTCCGACTGTGCGCTCACCTAGCCTCATCATAGT G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	20	0.0500	850	c.327 others(867): Show c.327+7033_327+7034insCACTATGATGAGGCTAGGTGAGCGCACA GTCGGACACTATGATCAGGCTGTGTGAGCGCACATTGGGACACTATGATG GGGCTAGGTGAGTGCACACTGGGACAGTATGATTTGGCTAGGTGAGAGCA CACTGGGGCACTATGATGGGGTTAGGTGAGCGCACACTGGGACACTATGA TGAGGCCAGGTGAATGCACACTGGGGTAATATGATGAGTCTAGGTGAGTG CACACTGGGGCACTATGATGAGGCTAGTTGAGTTCACACTGGGGCATTAT GATGAAGCTAGGTGAGCGCACACTGGGACACTATGATGATTCCGGGTGAG TGCACACTGGGATACTATCATTAGGCTAGGTGAGTGCACACTGGGGCACT ATGATGAGGCTAGGTGAGTGCACACTGGAACACTAAGATGAGGCTAGGTG AGCGCACACTGGGACACTATGATGAGGCCGGTTGAGTGCACAGTGGGGCA CTATGATGAGGGTAGGTGAGTGCACACTGGGGCACTATGCTGAGGCTAGG TGAGTGCTCACTGGGGCAGTATGATGAGGCCAGGTGAGTGCACACTGGGA CCCTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGAGGCTA GGTGAGCGCACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGG GACACTATCATGAGGCTAGGTGAGTGGATACTGCGTTACTATGATGAGGG CAGGTGAGTGCACACTAGGACATTATGATGAGGCTAGGTGATTGCACACT GGGGCACTATAATGAGGCCAGGTCAACGCACACTGGGGCACTATGTTGAG GCTAGGTGAGTGCACACTGGGA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(843): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATATA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TACATAAAAATTATATATATATTATATATACATAAAAATTATATATATAT TATATATACATAAAAATTATATATATATAATATATATATATAAAAATTAT ATATATATATTATATATATATAAAAAATTATATATATATATTATATATAT ATAAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	850	c.29 others(861): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATATAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATACATAAAAATTATATATATATTATATATACATAA AAATTATATATATATTATATATACATAAAAATTATATATATATAATATAT ATATATAAAAATTATATATATATATTATATATATATAAAAAATTATATAT ATATATTATATATATATAAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(843): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0124 a0001c0001t0009g0124	1	98	0.0102	850	c.41- others(867): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ULK1_chr12_131889622_131928150	131917084	G G	GGAGGCTG others(843): Show GGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGC TGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGCTCG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCT C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0179 a0002c0004t0004g0179	1	336	0.0030	850	c.218 others(865): Show c.2182+34_2182+35insCGGGGGTTGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATG GGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGG TGGGGCTCGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WDR62_chr19_36049897_36110108	36055621	A A	ACCAAGGT others(843): Show ACCAAGGTGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTT TTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTC ATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGT CTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGT CCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCT GCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCCA TTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGG GTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGTG CAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAGG GCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTATT CCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGC ACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACAC C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0255 a0005c0016t0001g0255	1	417	0.0024	850	c.177 others(865): Show c.177+489_177+490insTTTTTTTTTTTTTTTTTTTTTTTAATTTAT TTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGG GTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAA GGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTG TGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCAT GCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAAT CCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTG GGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTA GTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGAC AGGGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCT ATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTG GGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCAAGGTGGGATTCTT	WDR62	ENSG00000075702.19	transcript	ENST00000401500.7	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS17_chr15_99966437_100346975	100276383	A A	AATGGGAG others(844): Show AATGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGACT GGTGGGAGGGTGGGAGGGTGTGGGTGCCTGGTGGGAGGGAGTGGGTGCCT GGCGGGAGGGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGGAGGGAGT GGGTGCCTGGCGGGAAGGTGGGAGGGTGTGGGTGCCTGGCGGGAGGGTGG GAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGG GAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGGGTG CCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGCAGAG AGTGGGTGCCTGGTGGGAGGGTGGAAGGGAGTGGGTGCCTGGTGGGAGGG TGTGGGTGCCTGGTGGGAGGGAGTGGGTGCCTGGTGGGAGAGTGGGAGGG AGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGCGGGAGGG TGGGAGGGAGTGGGTGCCTGGCGGGAAGGTGGGAGGGTGTGGGTGCCTGG CGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGG GTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGA GGGAGTGGGTGCCTGGTGGGAGGGTGGCAGAGAGTGGGTGCCTGGTGGGA GGGTGGAAGGGAGTGGGTGCCTGGTGGGAGGGTGTGGGTGCCTGGTGGGA GGGAGTGGGTGCCTGGTGGGAGAGTGGGAGGGAGTGGGTGCCTGGTGGGA GGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGTGTGGGTGCC TG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01258.hp1 HG01070.hp2 HG01071.hp1 HG01258.hp1	a0002 a0004 a0002 a0004	a0002c0077 a0004c0008 a0004c0076 a0002c0077 a0004c0008 a0004c0076	a0002c0077t0007 a0004c0008t0003 a0004c0076t0001 a0002c0077t0007 a0004c0008t0003 a0004c0076t0001	a0002c0077t0007g0184 a0004c0008t0003g0035 a0004c0076t0001g0185 a0002c0077t0007g0184 a0004c0008t0003g0035 a0004c0076t0001g0185	3	196	0.0153	851	c.789 others(868): Show c.789+4845_789+4846insCAGGCACCCACACCCTCCCACCCTCCCA CCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCA CTCTCCCACCAGGCACCCACTCCCTCCCACCAGGCACCCACACCCTCCCA CCAGGCACCCACTCCCTTCCACCCTCCCACCAGGCACCCACTCTCTGCCA CCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACT CCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGG CACCCACTCCCTCCCACCCTCCCGCCAGGCACCCACACCCTCCCACCTTC CCGCCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGCACCCACTCCCTC CCACCCTCCCACCAGGCACCCACTCCCTCCCACTCTCCCACCAGGCACCC ACTCCCTCCCACCAGGCACCCACACCCTCCCACCAGGCACCCACTCCCTT CCACCCTCCCACCAGGCACCCACTCTCTGCCACCCTCCCACCAGGCACCC ACTCCCTCCCACCCTCCCACCAGGCACCCACACCCTCCCACCCTCCCACC AGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCACC CTCCCACCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGCACCCACACC CTCCCACCTTCCCGCCAGGCACCCACTCCCTCCCACCCTCCCGCCAGGCA CCCACTCCCTCCCACCCTCCCGCCAGGCACCCACTCCCTCCCACCAGGCA CCCACACCCTCCCACCCTCCCACCAGTCACCCACTCCCTCCCACCCTCCC ACCAGGCACCCACTCCCTCCCAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(844): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTGT AAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGG AGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGG CC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00621.hp1 others(36): Show HG00408.hp2 HG00597.hp1 HG00621.hp1 HG01106.hp1 HG01255.hp1 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02897.hp1 HG02976.hp2 NA18747.hp1 NA18939.hp2 NA18946.hp2 NA18947.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19030.hp1 NA19058.hp1 NA19062.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0002c0003t0003	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0040 others(28): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0224 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0006g0015 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0010g0252 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0010g0256 a0001c0001t0014g0257 a0001c0001t0014g0258 a0001c0001t0015g0259 a0001c0001t0015g0260 a0001c0001t0018g0230 a0002c0003t0003g0232 a0002c0003t0003g0237	39	65	0.6000	851	c.94+ others(866): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTT AAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTG GCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGG GAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTT TTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAG GCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCC AAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATA TTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTT GACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTC CACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTT CTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTA GAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(844): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTGT AAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGG AGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGG CC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG02630.hp1 others(4): Show HG01070.hp2 HG01109.hp1 HG02630.hp1 HG02723.hp1 HG02976.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0118 a0001c0001t0003g0247 a0001c0001t0003g0249 others(4): Show a0001c0001t0001g0118 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0005g0214 a0001c0001t0006g0223 a0001c0001t0009g0197 a0001c0001t0009g0198	7	33	0.2121	851	c.94+ others(866): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTT AAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCG GCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGG GAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTT TTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAG GCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCC AAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATA TTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTT GACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTC CACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTT CTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTA GAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(844): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG AC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	851	c.36 others(862): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(844): Show AGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGG AAGGGAAGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGG GAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAA AGGGAAGGGAAGGGAAGGGAAGGGAACCAGGACAGGAATCGGGACAGGAA CCGGGAAGGGAAGGGATGGGAACCGATGGGAACCGGGATGGCAACCAGGA AGGGAAGGGACCGGGACGGGAAGGGAAGGAAACCGGGACGGCAACAGAGA CAGGAACCGGGAAGGGAAAAGAAGGGAAGAGAACCGGGAAGGGAAGGGAA CCGGGACAGGAACCGGGAAGGGAAGGGAAGAGAACAGGGAAGGGAGGGTA GGGGAGGGAAACCGGGAAGGAAGAGGAAGGGGAGGGGAGACCGGGACGGG AACTGGGACGGGAAGGGTAGGGAACCGGGCGGGAACCGGGACGGGAGGGG AAGGGAATGGGGACGAGAAACGGGACGGGAACCAGGACAGGAACCAGAAC GGAAACAGGGAAGGGAAGGGAAGGGAACAGGGACAGGAATCGGGAAGGGA ACCGGGACAGGAACCGGAAAGGGAAGGGAACCAGGAAAGGAAAGGAAGGG AAGCGGGACGGGAGCCGGGAAGGCAAGAGAAGGGAACCGGGAAGAGTAAG GAGGAAAACCGGGACGGGAACAGGACGGGAACCGGGAAGGGCAGGGAACC GGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGGACAGGAA CAGGACGGGAACCGGGAAGGGCAGGGAACCGGCACAGGAAGGAAAGGGAA CC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0089 a0001c0002t0009g0089	1	10	0.1000	851	c.327 others(868): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTCCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCC TCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCC TTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCC CTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTC CCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATC GGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGATTCCTGTCCTGGTT CCCTTCCCTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTC CCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCC TTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCC CTTCCCTTCCCTTTTCCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C2CD4C_chr19_400445_414147	411092	A A	ACGGATCC others(844): Show ACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGG ATCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCAC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCACCCCTGCTGGGCACGGAT CCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGT CCACCACCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TTGGGGTCTGTCCACCACCCCTGCTGGGCACGGATCCTGGGGGTCTGTCC ACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTG GGCCCGGATCCTTGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTG GGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCAC CGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGG CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	221	0.0045	851	c.-21 others(862): Show c.-2128_-2127insGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAG ACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAGAC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGTGGTGGACAGACCC CCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGC CCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGG TGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCC AGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCC AGCAGGGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGGGGCGGTG GACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAG GATCCGTGCCCAGCAGGGGTGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGAGACGGTGGA CAGACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1946		chr19	TogoVar
C2CD4C_chr19_400445_414147	411277	C C	CCGGATCC others(844): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCACCCCTGCTGGGCACGGATCCTGGGGATCTGTCCACCGTCT CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCT GTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGAACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGAACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTG GGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCAC CGCCCCTGCTGGGCACGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGG CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0005	a0006c0011t0005g0151 a0006c0011t0005g0151	1	244	0.0041	851	c.-23 others(862): Show c.-2313_-2312insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAC CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGT GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCC CCAGGATCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAGACGG TGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCC AGGATCCGGGCCCAGCAGAGACGGTGGACAGATCCCCAGGATCCGTGCCC AGCAGGGGTGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTG GACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAG GATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2131		chr19	TogoVar
C2CD4C_chr19_400445_414147	411301	G G	GCCCCTGC others(844): Show GCCCCTGCTGGGCACGGATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGC CCGGATCCTGGGGATCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTTGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCACCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGT CCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTAC TGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTG GGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTG GGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCAC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	277	0.0036	851	c.-23 others(862): Show c.-2337_-2336insTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGAC CCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGT GCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCC CCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGTGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGG TGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCC AGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCC AGCAGGGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTG GACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAG GATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGA CAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCAAGGA TCCGTGCCCAGCAGGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2155		chr19	TogoVar
CDHR2_chr5_176544342_176600824	176591890	A A	ATGATGGT others(844): Show ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGACGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0050 a0007c0050	a0007c0050t0001 a0007c0050t0001	a0007c0050t0001g0129 a0007c0050t0001g0129	1	340	0.0029	851	c.373 others(868): Show c.3734+467_3734+468insTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGT TGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGG TGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGT TGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGG TGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGA TGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGG TGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGACGA TGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGG TGATGGTGGTGGTGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTDP1_chr18_79674803_79759503	79685061	G G	GGAGTGTG others(844): Show GGAGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCT ACTCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAG GAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTG CCCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTG GTCTCTAGTCCCGGTTTCTCCGTGGTGCTCCTTACGGGGTGTGAGGTCCT GGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGC GGTGCTCCTTACGGAGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCT CGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGAGTGTGAGG TCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCT CTGCGGTGCTCCTTACGGAGTGTGAGGTCCTGGTGAGGATCAGTGCAGGG ACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTGT GAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTAGTCCCGGT TTCTCCGTGGTGCTCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGC AGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGA GTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCC CGGTTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGATCA GTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTA CA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0016 a0001c0008t0001g0197 a0001c0008t0001g0016 a0001c0008t0001g0197	2	180	0.0111	851	c.314 others(868): Show c.314+4801_314+4802insAGTGTGAGGTCCTGGTGAGGAGGACGGT GCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACA GGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTA CTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGG ATCAGTGCAGGGACCTCGTGGTCTCTAGTCCCGGTTTCTCCGTGGTGCTC CTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTC TCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGAGTGTGAGGTCCTGGT GAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGT GCTCCTTACGGAGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGT GGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGAGTGTGAGGTCC TGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTG CGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACC TCGTGGTCTCTAGTCCCGGTTTCTCCGTGGTGCTCCTTACGGGGTGTGAG GTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTC TCTGCGGTGCTCCTTACGGAGTGTGAGGTCCTGGTGAGGATCAGTGCAGG GACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTG TGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGG TTTCTCTGCGGTGCCCCTTACAG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(844): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCAGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGACTCGGG GT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	307	0.0033	851	c.315 others(868): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCAGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGG CTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGG ACTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(844): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGACTCGGG GT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	307	0.0033	851	c.315 others(868): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGG CTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGG ACTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(844): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAG TGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAG TGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAG TGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCAG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGACTCGGG GT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	307	0.0033	851	c.315 others(868): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGAC GGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGAC GGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGAC GGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCAGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGG CTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGG ACTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(844): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAG TGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAG TGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAG TGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGACTCGGG GT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	307	0.0033	851	c.315 others(868): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGAC GGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGAC GGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGAC GGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGG CTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGG ACTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(844): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAA ACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAA CAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATG TTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGA TT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0153 a0001c0001t0017g0153	1	2	0.5000	851	c.-51 others(862): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAAATAATAATAATAAT AATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAA ACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCA CTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTA GTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCA CGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATT TCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACC GTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGAT CATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(844): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAA ACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAA CAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACACAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATG TTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGA TT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	2	0.5000	851	c.-51 others(862): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAAATAATAATAATAAT AATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAA ACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCA CTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACACAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTA GTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCA CGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATT TCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACC GTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGAT CATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar

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