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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CCDC183_chr9_136791338_136812741	136802779	A A	AGGTCAAG others(1625): Show AGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGG GGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCG GGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CAGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCAGGGGCTCTCCAGGGCGGGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCT CCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0082 a0013c0016t0002g0082	1	398	0.0025	1632	c.666 others(1647): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGC CCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCAGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCTCTCCAGGGC GGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCAGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CA		CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(1625): Show TGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAG GGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCAGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCTCTCCAGGGCGGGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGG CCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0105 a0003c0003t0002g0105	1	398	0.0025	1632	c.666 others(1647): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGC CCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCAGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCTCTCCAGGGC GGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCAGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CA		CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
CUL2_chr10_35003551_35095341	35049922	A A	AGAAAACA others(1625): Show AGAAAACAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTT TTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGG GGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAA CAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCCTT CCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACT CTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGC ACTGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAG AGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAG GAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCT TTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTT TCCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTCTC AATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAGCCCCCCATCTCCC TCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGG GCGGGGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0230 a0001c0005t0001g0279 a0001c0005t0001g0230 a0001c0005t0001g0279	2	300	0.0067	1632	c.424 others(1647): Show c.424-158_424-157insCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CCGCCCAGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCC CGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCG GGAGGGAGATGGGGGGCTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTC ATTGAGAACGGGCCAGGATGACAATGGCGGCATTGTGGAATAGAAAGGCG GGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTA GAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAA TTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGT GCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGC AGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTT AAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTG CGGAAGGCCGCGGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCAC TTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAA TCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTA AAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTTGTTT TC		CUL2	ENSG00000108094.17	transcript	ENST00000374749.8	protein_coding	5/20						chr10	TogoVar
DIP2C_chr10_269201_694668	477345	A A	AGGGGGAG others(1625): Show AGGGGGAGGGAGGGGGAGGGAGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGAGGGAGGGGGAGGGAGGGAGGGGAGGGAGGGGGAGGGAGGGGGAGG GAGGGGAGGGAGGGGGAGGGAGGGGAGGAAGGGGGAGGGAGGGGGAGAGA GGGGAGGAAGGGGGAGGGAGGGGAGGAAGGGGGAGGGAGGGGGAGAGAGG GGAGGAAGGGGGAGGGAGGGGGAGAGAGGGGAGGAAGGGGGAGGGAGGGG GAGAGAGGGGAGGAAGGGGGAGGGAGGGGGAGGGAGGGGGAGAGAGGGGA GGGAGGGGGAGAGGGGAGGAAGGGGAGGGGAAGTGGATAGATGGCAGGTG GGGGAGAGAGAGGAGAAAGGTGGATAAAGGGAGGGGGAGAGGAAGGAGGG GGCACAGGGGGAGGAAGGGGCACGGGGGAAGGTGGGGGGGTGGGGGGAGG AAGGTGGATGGGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGG TGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGACGGGGGGA GGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGACG GGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGG GAGGCGGGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGA TGGGGGGAGGCAGGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAA GGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGG TGGATGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGAGGAAGGTGGATG GGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGG GAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGA GGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGG AAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAA GGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGG CGGGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGCGGG GGGAGGAAGGTGGATGGGGGGAGGCAGGGGGAGGAAGGTGGATGGGGAGG AAGGCGGGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGG CGGGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGG GGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGACGGGGGGAGGAAGGTG GATGGGGGGAGGCGGGAGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGG AAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAA GGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGG TGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTG GATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGA TGGGGAGGAAGGTGGATGGGGAGGAAGGTGGAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	88	0.0114	1632	c.158 others(1649): Show c.158-4797_158-4796insATCCACCTTCCTCCCCATCCACCTTCCT CCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCC CCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCC ATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCAT CCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCC ACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCTCCCGCCTCCCC CCATCCACCTTCCTCCCCCCGTCTCCCCCCATCCACCTTCCTCCCCCCGC CTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCC CCCCGCCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCCC GCCTTCCTCCCCATCCACCTTCCTCCCCCTGCCTCCCCCCATCCACCTTC CTCCCCCCGCCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCC CCCCGCCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCAT CCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCC ACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCAC CTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCT TCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTC CTCCCCATCCACCTTCCTCCCCCATCCACCTTCCTCCCCCCGCCTCCCCC ATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCAT CCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCCTGCCTCC CCCCATCCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCCC GCCTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCT CCCCCCGTCTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCCCCATCCAC CTTCCTCCCCCCGTCTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCCCC ATCCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCCCATCC ACCTTCCTCCCCCCACCCCCCCACCTTCCCCCGTGCCCCTTCCTCCCCCT GTGCCCCCTCCTTCCTCTCCCCCTCCCTTTATCCACCTTTCTCCTCTCTC TCCCCCACCTGCCATCTATCCACTTCCCCTCCCCTTCCTCCCCTCTCCCC CTCCCTCCCCTCTCTCCCCCTCCCTCCCCCTCCCTCCCCCTTCCTCCCCT CTCTCCCCCTCCCTCCCCCTTCCTCCCCTCTCTCCCCCTCCCTCCCCCTT CCTCCCCTCTCTCCCCCTCCCTCCCCCTTCCTCCCCTCCCTCCCCCTTCC TCCCCTCTCTCCCCCTCCCTCCCCCTTCCTCCCCTCCCTCCCCCTCCCTC CCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCTCCCTCCCTCCCCCTCCC TCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCTCCCTCCCCCTCCCTC CCCC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
FAM240C_chr2_241888988_241905464	241896503	G G	GGGGTGTG others(1625): Show GGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTG GGTGTTGGGGTGTGGGTGTTGGGGGTGTGTGTGTTGGGGTGTGGGTGTTG GGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTG GGTGTTGGGGTGTGGGTGTTGGGGGTGTGGGTGTGGGGGTGTGGGTGAGG GGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGG GTGTTGGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGTGTGGGTGTGGG GGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGGTGTGG GTGTGGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGG GTGTGGGTGTTGGGGTGTGGGTGTTGGGGGTGTGGGTGTGGGGGTGTGGG TGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAGGGGGTGTGGGTGTTGGGG TGTGGGTGAAGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTG TGGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTG TGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTT GGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAGGGGGTGTG TGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGG GGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGG TGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAGGGGG TGTGTGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTG TTGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTG TGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTT GGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTG GGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTGGG GGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGTG TGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGG TGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTG TGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGAGGGGGTG TGTGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTT GGGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGT GGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTGG GGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAGGGGGTGTGG GTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGGTGTGGGTGTTGG GGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGG TGAAGGGGTGTGGGTGTTGGGGGTGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	37	0.0270	1632	c.161 others(1647): Show c.161+682_161+683insAACACCCACACCCCCAACACCCACACCCCT TCACCCACACCCCAACACCCACACCCCCACACCCACACCCCCACACCCAC ACCCCAACACCCACACCCCCAACACCCACACCCCCACACCCACACCCCCA CACCCACACCCCCTCACCCACACCCCCACACCCACACCCCAACACCCACA CCCCCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACA CCCACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACC CCCAACACCCACACCCCCACACCCACACCCCAACACCCACACCCCAACAC ACACACCCCCTCACCCACACCCCCACACCCACACCCCCACACCCACACCC CCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACCC ACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCCCA ACACACACACCCCCACACCCACACCCCCACACCCACACCCCCACACCCAC ACCCCCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCCAC ACCCACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACAC CCCAACACCCACACCCCCACACCCACACCCCCACACCCACACCCCAACAC CCACACCCCAACACCCACACCCCCACACCCACACCCCCACACCCACACCC CAACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACAC ACACCCCCTCACCCACACCCCAACACCCACACCCCCACACCCACACCCCA ACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACCCAC ACCCCAACACCCACACCCCCACACCCACACCCCAACACCCACACCCCAAC ACACACACCCCCTCACCCACACCCCAACACCCACACCCCCACACCCACAC CCCAACACCCACACCCCAACACCCACACCCCAACACCCACACCCCCACAC CCACACCCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCC CCACACCCACACCCCCACACCCACACCCCCACACCCACACCCCTTCACCC ACACCCCAACACCCACACCCCCTCACCCACACCCCCACACCCACACCCCA ACACCCACACCCCCACACCCACACCCCCAACACCCACACCCCAACACCCA CACCCCAACACCCACACCCCAACACCCACACCCCTTCACCCACACCCCCA CACCCACACCCCCAACACCCACACCCCAACACCCACACCCCCACACCCAC ACCCCCACACCCACACCCCTTCACCCACACCCCCACACCCACACCCCCAA CACCCACACCCCAACACCCACACCCCCACACCCACACCCCAACACCCACA CCCCCTCACCCACACCCCCACACCCACACCCCCAACACCCACACCCCAAC ACCCACACCCCAACACCCACACCCCCACACCCACACCCCCACACCCACAC CCCCAACACCCACACCCCAACACACACACCCCCAACACCCACACCCCAAC ACCCACACCCCTTCACCCACACCCCAACACCCACACCCCTTCACCCACAC CC		FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2						chr2	TogoVar
GRM4_chr6_34013643_34151087	34071577	C C	CACATCAC others(1625): Show CACATCACCACACAGATACAGACCACACACACACACATCACCACAGAGAT ACACACCACAAGCACACAACATATCACCACATAGATACACCACACACACA CACATCACCACATACACACCACACATATACACACCACAGAGATACACACC ACAAACACACACATCACCACATACACACCACACACACACCACCACATACA CACCACACACATACACACCACAGACACACACACAACACAGATACACACCA CACACACACCACAGAGATACACACCACAAACACACCCCCACACATCACCA GATACACACCACACACACACATCACCACACAGATACATACCACACACACA TCACCACAGATACACACCACACCCCCACACATCACACAGATACACACCAC ACACACATATCACCACACAGATACACACCACACCCCCACACACCACACAG ATACACACCACACAGATACACACCGAAGACACACCCCCAAACATCACCAC ACAAATACACACCACACACAGACACACACATCACTACACAGATACATGCC ACATACACATATCACCACAGATACACACCACACACACATTACCACACAAA TACACACCACACACACGACCACACACACACACACAAACACACATCGCCAC ACAGATACACACCACACACACATAATCACCACACAGATACATGCCACACA CACATCACCACACAGATACACACCACACACACAATCACCAGATACACACC ACACACCCCTACACATGACTACACTACACTACACACCACACACAGACACA CACACCACAGATACATACCGCACACACGTCCTTACATCATCACACAGATA CACAATCATCACACACCACACAGATACACACCACACACACACATCACCAC ACAGATACCATACACAGACACACACACCACTACACAGATACACGCCACAC ACAGATACACACATCACCACACAGATACACAACACACACAGACACACAAT CACTACCCACCAGATACACAGCACACACACACACATATCACCACACAGAT ACACACCACACACACACTCCCACACATAACCACAAAAATACACACCACAC ACAGACACACACACATCACCACAGATACATGCCACACACACCCATACATC ACCACAGATACCACACACAGACACACAATCACCACCCACCACACAGATAC ACACCACACACAGACACACACATCACCACACAGATACACAGCACACACAG ACACACAATCACCACCCACCACACAGATACACACCACACACAGACACACA CATCACCACACAGATACACAGCACACACAGACACACAATCACCACACACC ACACAGATACACACCACACACAGACACACACATATCACCACACAGATACA CAGCACACACAGACACACAATCACCACACACCACACAGATACACACCACA CACAGACACACACACATCACCACACAGATACACACCACACACACACTCCC ACACATCACAAAAATACACACCACAGACACACACACATCACCACAGATAC ACGCCACACACACACCCATACATCACCACAGATACCACACAAAGACACAC AATCACCACCCACCACAGATACACACCACACAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	282	0.0036	1632	c.737 others(1649): Show c.737-9550_737-9549insCTGTGTGGTGTGTATCTGTGGTGGGTGG TGATTGTGTGTCTTTGTGTGGTATCTGTGGTGATGTATGGGTGTGTGTGT GGCGTGTATCTGTGGTGATGTGTGTGTGTCTGTGGTGTGTATTTTTGTGA TGTGTGGGAGTGTGTGTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTGT CTGTGTGTGGTGTGTATCTGTGTGGTGTGTGGTGATTGTGTGTCTGTGTG TGCTGTGTATCTGTGTGGTGATATGTGTGTGTCTGTGTGTGGTGTGTATC TGTGTGGTGTGTGGTGATTGTGTGTCTGTGTGTGCTGTGTATCTGTGTGG TGATGTGTGTGTCTGTGTGTGGTGTGTATCTGTGTGGTGGGTGGTGATTG TGTGTCTGTGTGTGCTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGT GGTGTGTATCTGTGTGGTGGGTGGTGATTGTGTGTCTGTGTGTGGTATCT GTGGTGATGTATGGGTGTGTGTGGCATGTATCTGTGGTGATGTGTGTGTG TCTGTGTGTGGTGTGTATTTTTGTGGTTATGTGTGGGAGTGTGTGTGTGG TGTGTATCTGTGTGGTGATATGTGTGTGTGTGTGCTGTGTATCTGGTGGG TAGTGATTGTGTGTCTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGTA TCTGTGTGTGGCGTGTATCTGTGTAGTGGTGTGTGTGTCTGTGTATGGTA TCTGTGTGGTGATGTGTGTGTGTGGTGTGTATCTGTGTGGTGTGTGATGA TTGTGTATCTGTGTGATGATGTAAGGACGTGTGTGCGGTATGTATCTGTG GTGTGTGTGTCTGTGTGTGGTGTGTAGTGTAGTGTAGTCATGTGTAGGGG TGTGTGGTGTGTATCTGGTGATTGTGTGTGTGGTGTGTATCTGTGTGGTG ATGTGTGTGTGGCATGTATCTGTGTGGTGATTATGTGTGTGTGGTGTGTA TCTGTGTGGCGATGTGTGTTTGTGTGTGTGTGTGTGGTCGTGTGTGTGGT GTGTATTTGTGTGGTAATGTGTGTGTGGTGTGTATCTGTGGTGATATGTG TATGTGGCATGTATCTGTGTAGTGATGTGTGTGTCTGTGTGTGGTGTGTA TTTGTGTGGTGATGTTTGGGGGTGTGTCTTCGGTGTGTATCTGTGTGGTG TGTATCTGTGTGGTGTGTGGGGGTGTGGTGTGTATCTGTGTGGTGATATG TGTGTGTGGTGTGTATCTGTGTGATGTGTGGGGGTGTGGTGTGTATCTGT GGTGATGTGTGTGTGGTATGTATCTGTGTGGTGATGTGTGTGTGTGGTGT GTATCTGGTGATGTGTGGGGGTGTGTTTGTGGTGTGTATCTCTGTGGTGT GTGTGTGGTGTGTATCTGTGTTGTGTGTGTGTCTGTGGTGTGTATGTGTG TGGTGTGTATGTGGTGGTGTGTGTGTGGTGTGTATGTGGTGATGTGTGTG TTTGTGGTGTGTATCTCTGTGGTGTGTATATGTGTGGTGTGTATGTGGTG ATGTGTGTGTGTGTGGTGTATCTATGTGGTGATATGTTGTGTGCTTGTGG TGTGTATCTCTGTGGTGATGTGTGTGTGTGTGGTCTGTATCTGTGTGGTG ATGT		GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10						chr6	TogoVar
HPCAL1_chr2_10297904_10432604	10399426	A A	ACCGCCAC others(1625): Show ACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CATCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA TCATCACCATCATCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCA CCACCATCACCGCCACCACCACCATCACCACCACCACCATCACCATCATC ACCATCATCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCGCCACCACCATCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCATCACCATC ACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CATCATCACCACCACCACCACCACCACCACCACCACCACCATCACCATCA TCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCATC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCGCCGCCACCACCACCACC ATCACCGCCACCACCATCACCATCACCACCACCACCACCACCACCACCAC CACCACCATCACCATCATCACCACCACCACCACCACCACCGCCACCACCA CCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCGCCACCACCATCACCATCATCACCACCAC CACCACCATCACCACCACCACCACCACCACCGCCACCACCACCACCATCA CCGCCACCACCATCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCATCACCA CCGCCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACTAC CATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCATCATCACCACCATCACCACC GCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCATCAC CACCACCATCACCACCACCATCACCACCATCACCACCGCCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACC ACCACCATCATCACCACCATCACCACCACCATCATCACCACCATCATCAC CACCATCACCACCACCATCACCACCACCATCATCACCACCATCACCACCA CCACCATCGCCGCCACCACCACCACCATCGCCG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	314	0.0032	1632	c.-25 others(1649): Show c.-25+2508_-25+2509insGCCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCATCATCACCATCATCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCATCACCACCATCACCGCCACCACCACCATCACCAC CACCACCATCACCATCATCACCATCATCACCACCACCACCACCACCATCA CCATCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACC GCCACCACCATCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCATCACCATCACCGCCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCATCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCATCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CGCCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCA CCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACC ACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCA TCACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCACC GCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACC ACCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCAC CATCACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCATCACTACCATCACCACCGCCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCAT CATCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCATCACCACCACCATCACCACCACCATCACCACCATC ACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCA TCATCACCACCATCATCACCACCATCACCACCACCATCACCACCACCATC ATCACCACCATCACCACCACCACCATCGCCGCCACCACCACCACCATCGC CGCC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(1625): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCG CGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATG GGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCG CGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATG GGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCACCTCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	292	0.0034	1632	c.218 others(1647): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGGGGGGGGCACACTCGCCAGGAGCCCATGT GAGGAGGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGC CGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGT GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGCGGGGGGGGCACACTCGCCAGGAGCCTATGTGAGGCACAGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGA GG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(1625): Show ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACACGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAAC GCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCC ACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAAC GCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0099 a0004c0004t0007g0099	1	292	0.0034	1632	c.377 others(1649): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGTGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MUC4_chr3_195741771_195816929	195783262	T T	TCGGTGAC others(1625): Show TCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTC AGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGG TGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCAGTG ACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGAC AGGAAGAGGGGTGGTGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAG GAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGA AGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG AGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGT GGTGTCCCCTGTGGATAATGAGGAAGCATCGGTGACATGAAGAGCGGTGG CGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGCG TGACCTGTGGATGCTGAGGAAAGGCTGTTGACAGGAAGAGGGGTGGCCTG ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTGAC CTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGGCGTGGTGTCACCT GTTGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGT GGATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGG ATACTGAGGAAAGGCTGGTGACAGGAAGAGGCGTGGCGTGACCGGTGGAT ACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGC CGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTG AGGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAG GAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGA AGCGCCGGTGACAGGAAGAGTGCTGGTGTCACCTGTGGATGCTGAGGAAG GGATGGTGACATGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGG CTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTC GGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGCTGG TGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTG ACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGGGCTAGTGAC AGGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGTGTTGGTGACAG GAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGAAATGTCGGTGACAGGA AGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCGGTGACAGAAAG AGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGCACAG GGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp2 HG03130.hp2	a0102 a0102	a0102c0196 a0102c0196	a0102c0196t0012 a0102c0196t0012	a0102c0196t0012g0239 a0102c0196t0012g0239	1	249	0.0040	1632	c.831 others(1641): Show c.8317_8318insGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTG TGCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTT TCTGTCACCGGCCTTTCCTCAGCTTCCACAGGTGACACCACCCGTCTTCC TGTCACCGACATTTCCTCGGCATCCACAGGTCAGGCCACCCCTCTTCCTG TCACCAACACTTCCTCAGTATCCACAGGTGACACCATGCCTCTTCCTGTC ACTAGCCCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCAC CGACGCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCA GCACTTCCTCAGCATCTACAGGTCACACCACCCCTCTTCCTGTCACCGAC ACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCAGCCC TTCCTCAGCATCTACAGGTCACACCACCCCTCTTCATGTCACCATCCCTT CCTCAGCATCCACAGGTGACACCAGCACTCTTCCTGTCACCGGCGCTTCC TCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTC AGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAG TATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCA TCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATC CACCGGTCACGCCACGCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCA CAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACA GGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCAACAGG TGACACCACGCCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTC ACACCACCTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAG GCCACCCCTCTTCCTGTCAACAGCCTTTCCTCAGCATCCACAGGTCACGC CACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCA CCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGACACCACC CCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCTCTC TTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTT CCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCC TGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTG TCACCAGCCCTTCCTCAGCATCCACAGGTCACACCACCCCTCTTCCTGTC ACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCAC TGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACTGAC ACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCG	p.Asn others(1645): Show p.Asn2773delinsSerProSerSerAlaSerThrGlyAspThrThrPr oValProValThrAspThrSerSerValSerThrGlyHisAlaThrProL euSerValThrGlyLeuSerSerAlaSerThrGlyAspThrThrArgLeu ProValThrAspIleSerSerAlaSerThrGlyGlnAlaThrProLeuPr oValThrAsnThrSerSerValSerThrGlyAspThrMetProLeuProV alThrSerProSerSerAlaSerThrGlyGlnAlaThrProLeuProVal ThrAspAlaSerSerAlaSerThrGlyAspThrThrProLeuProValTh rSerThrSerSerAlaSerThrGlyHisThrThrProLeuProValThrA spThrSerSerAlaSerThrGlyAspThrThrProLeuProValThrSer ProSerSerAlaSerThrGlyHisThrThrProLeuHisValThrIlePr oSerSerAlaSerThrGlyAspThrSerThrLeuProValThrGlyAlaS erSerAlaSerThrGlyHisAlaThrProLeuProValThrAspThrSer SerValSerThrGlyHisAlaThrProLeuProValThrSerPheSerSe rValSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerA laSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerVal SerThrGlyHisAlaThrProLeuProValThrSerLeuSerSerValSe rThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerT hrGlyGlnAlaThrProLeuProValThrSerLeuSerSerValSerThr GlyAspThrThrProLeuProValThrIleProSerSerAlaSerSerGl yHisThrThrSerLeuProValThrAspThrSerSerAlaSerThrGlyG lnAlaThrProLeuProValAsnSerLeuSerSerAlaSerThrGlyHis AlaThrSerLeuLeuValThrAspAlaSerSerValSerThrGlyHisAl aThrAlaLeuHisValThrAspAlaSerSerLeuSerThrGlyAspThrT hrProLeuProValThrSerProSerSerAlaSerThrGlyAspThrThr ProLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrSe rLeuProValThrAspThrSerSerAlaSerThrGlyHisAlaThrSerL euProValThrAspThrSerSerAlaSerThrGlyHisAlaThrSerLeu ProValThrAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuPr oValThrSerProSerSerAlaSerThrGlyHisThrThrProLeuProV alThrAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuProVal ThrAspThrSerSerAlaSerThrGlyAspThrThrProLeuProValTh rAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuProValThrA spThrSerSerAlaSerThrGlyAspThrThrProLeuProValThrAsp	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8429/16756	8317/16239	2773/5412			chr3	TogoVar
PAK2_chr3_196734857_196837647	196811201	C C	CCCTTCCC others(1625): Show CCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTT CCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCTTCCCTTCCTT CCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTACCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCC CTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTACCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTACCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCTTT CCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCC TCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0089 a0001c0001t0066g0089	1	178	0.0056	1632	c.773 others(1647): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCC CTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTT CCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTACCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCTTCCCTACCCTCCCTCCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCTTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCC TCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTT CC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAC others(1625): Show AGGGGGACGAGGGGGACGAGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGAGGGGGACGC GGGGGACGGGGGGGACGCGGGGGGACGCGGGGGACGGGGGGGACGCGGGG GACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGC GGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGG ACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCG GGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGA CGGGGGGGACGAGGGGGACGAGGGGGACGAGGGGGGACGCGGGGGGACGC GGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGAGGGGGACGAGGGGG GACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGA GGGGGACGAGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGG GACGGGGGGGACGGGGGGGACGAGGGGGGACGCGGGGGACGGGGGGGACG GGGGGGACGCGGGGGGACGCGGGGGGACGCGGGGGGACGCGGGGGACGGG GGGGACGAGGGGGGACGAGGGGGGACGCGGGGGACGCGGGGGACGCGGGG GACGGGGGGGACGGGGGGGACGCGGGGGGACGCGGGGGGACGCGGGGGGA CGCGGGGGGCGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGG GGGGCGGGGGGGACGCGGGGGGGACGCGGGGGGCGGGGGGGACGCGGGGG ACGGGGGGGACGCGGGGGGCGGGGGGGACGCGGGGGGACGCGGGGGGCGG GGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGG ACGCGGGGGACGCGGGGGACGCGGGGGGCGGGGGGGACGGGGGGACGGGG GGGACGCGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGAC GGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGG GGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACG CGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGG GACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGGCGG GGGGGACGGGGGGACGGGGGGGACGCGGGGGGACGCGGGGGGGACGGGGG GGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACG GGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGG GACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGACGGGGGGGACGCG GGGGGACGCGGGGGGACGCGGGGGGACGCGGGGGACGGGGGGGACGCGGG GGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACG GGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGGGGGGGACGCGGGGGGACGGGGGGGACGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0024 a0024	a0024c0058 a0024c0058	a0024c0058t0001 a0024c0058t0001	a0024c0058t0001g0027 a0024c0058t0001g0027	1	188	0.0053	1632	c.147 others(1649): Show c.1474-959_1474-958insCCGTCCCCCCCGTCCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCG CGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCCGCGT CCCCCCGCGTCCCCCCCGTCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCC GCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTC CCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCC CGTCCCCCCCGTCCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCCGT CCCCCCCGCCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCC GCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTC CCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCG CGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCC CCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCGC GTCCCCCCCGTCCCCCCGTCCCCCCCGCCCCCCGCGTCCCCCGCGTCCCC CGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGT CCCCCCCGCCCCCCGCGTCCCCCCGCGTCCCCCCCGCCCCCCGCGTCCCC CCCGTCCCCCGCGTCCCCCCCGCCCCCCGCGTCCCCCCCGCGTCCCCCCC GCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCCCC CCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCC CCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCTCGTCCCCCCTCG TCCCCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCGCGTC CCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCTCGTCCCCCCCGTCCCCC CCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCTCGT CCCCCTCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC GCGTCCCCCCTCGTCCCCCTCGTCCCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCGCGTCCCCCCGCGTCCCCCCTCGTCCCCCTCGTCCCCCTCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCG TCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCC CGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCC GCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCCCGT CCCCCGCGTCCCCCTCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCTCGTC CCCC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50397617	A A	AGGGGGCC others(1625): Show AGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGTTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCA GCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG GGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTG TCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0199 a0001c0003t0002g0199	1	340	0.0029	1632	c.227 others(1649): Show c.227+3487_227+3488insCCTGTCCTCACCAGCCTTGTCATCCCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAG CCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAG CCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCAT CCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG GGGG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1625): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTATTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTATTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTATTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTAC TCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCC ATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCAC CCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCC ACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCAT CCACCTTCCCCTCCATCTATTCACCCATCCACCCACCCACCCATCCACCT TCCCCTCCATCTATTCACCCATCCACCCACCCACCCATCCACCTTCCCCT CCATCTATTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCT ACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCAC CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTATTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCAT CCACCCACCCACCCATCTACCTTTCTCTCCACCTATTCACCCATCCACCC ACCCACCCATCTACCTTCCTCTCCATCTATTCAACTATCCACCCACCCAC CCACCTATCCACTTTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0273 a0001c0004t0022g0273	1	370	0.0027	1632	c.438 others(1649): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGA TGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTG AGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAATAGA TGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGG GGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGG TGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATG GGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGG TGGGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTG GATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGG TGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAATA GATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAATAGATGGA GGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAATAGATGGAGGGGAA GGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGA TGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTG GGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGG TGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG GGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAG TAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAATAGATG GAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGG AAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTG GATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGG TGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTG GGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGA TGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTG AGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAATAGA TGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGG GGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGG TGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATG GGTGGGTGGGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGG TGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTG GATG		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13						chr5	TogoVar
RUFY1_chr5_179545554_179615012	179594578	A A	AGTGAAAT others(1625): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAC TACAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGATA CGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTGA TCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACT GCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATATG CTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTAA TGTCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATTT TTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGGC CAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTCC CAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA GGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGG GTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATC CGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCAC GTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAGG AACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAGC TGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACCC CTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAAT GGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAGA TGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAGC CTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGAC CTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTCA GTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCTT GAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGGC TCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGA GGTCAGGAGATTGAGACCATTCTGGCTGACATG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19088.hp2 NA20300.hp2 NA18964.hp1 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0331 a0001c0005t0002g0240 a0001c0005t0002g0246 a0001c0003t0002g0331 a0001c0005t0002g0240 a0001c0005t0002g0246	3	376	0.0080	1632	c.141 others(1649): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT GGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGT CACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTTG TATTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAA CTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATC TTTTCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTG TTCTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATACA GTCTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAG TCTCACGCTGTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACT GCAACCTCTGTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATT TTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCC TGACCTCAGGTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATA GGCGTGAGCTACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTC TTGTACACACACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCT GTCATGGCTAAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTG AACCCAGTTGCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCT TCTGAGTTTCTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAAC CATTCAGGGCTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAGC TGGCGAACATTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAG CAAAGACTCCCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCT GAGAGCCTTGAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAAT TGGTAGAATACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATATG GCCGGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAG GCAGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTGACATGGT GAAA		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179594578	A A	AGTGAAAT others(1625): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTG TCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA CTACAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAT ACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTG ATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC TGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATAT GCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTA ATGTCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATT TTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGGC CAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTCC CAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA GGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGG GTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATC CGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCAC GTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAGG AACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAGC TGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACCC CTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAAT GGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAGA TGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAGC CTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGAC CTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTCA GTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCTT GAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGGC TCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGA GGTCAGGAGATTGAGACCATTCTGGCTGACATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02735.hp2 HG02572.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0223 a0001c0003t0002g0239 a0001c0003t0002g0223 a0001c0003t0002g0239	2	376	0.0053	1632	c.141 others(1649): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA TGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGG TCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTT GTATTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAA ACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAAT CTTTTCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCT GTTCTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATAC AGTCTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAG TCTCACGCTGTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACT GCAACCTCTGTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATT TTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCC TGACCTCAGGTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATA GGCGTGAGCTACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTC TTGTACACACACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCT GTCATGGCTAAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTG AACCCAGTTGCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCT TCTGAGTTTCTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAAC CATTCAGGGCTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAGC TGGCGAACATTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAG CAAAGACTCCCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCT GAGAGCCTTGAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAAT TGGTAGAATACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATATG GCCGGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAG GCAGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTGACATGGT GAAA		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179594578	A A	AGTGAAAT others(1625): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA GGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATCT ATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCGCCTC CCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAC AGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGATACGG AGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTGATCC ACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCC CGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATATGCTA TTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTAATGT CTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATTTTTC AGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGGC CAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTCC CAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA GGCATCTGCCACCACACCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGG GTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATC CGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCAC GTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAGG AACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAGC TGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACCC CTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAAT GGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAGA TGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAGC CTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGAC CTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTCA GTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCTT GAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGGC TCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGA GGTCAGGAGATTGAGACCATTCTGGCTAACATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0006 a0002c0008t0002g0006	1	376	0.0027	1632	c.141 others(1649): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCT CCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCAC TGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTTGTAT TTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTC CTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTT TCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTC TTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATACAGTC TGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAG TCTCACGCTGTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACT GCAACCTCTGTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCATCTGCCACCACACCTGGCTAAGTTTTGTATT TTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCC TGACCTCAGGTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATA GGCGTGAGCTACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTC TTGTACACACACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCT GTCATGGCTAAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTG AACCCAGTTGCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCT TCTGAGTTTCTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAAC CATTCAGGGCTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAGC TGGCGAACATTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAG CAAAGACTCCCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCT GAGAGCCTTGAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAAT TGGTAGAATACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATATG GCCGGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAG GCAGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTAACATGGT GAAA		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347392	T T	TGGACCTG others(1625): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAG GTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAG TCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACC AGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGA TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0107 a0001c0004t0001g0107	1	198	0.0051	1632	c.204 others(1653): Show c.2046+10689_2046+10690insGATGATGATGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGAC CAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGC TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAG AACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347392	T T	TGGACCTG others(1625): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAG TCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGA TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0175 a0001c0004t0002g0175	1	198	0.0051	1632	c.204 others(1653): Show c.2046+10689_2046+10690insGATGATGCTGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGC TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAG AACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347392	T T	TGGACCTG others(1625): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGT CATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGAT GGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGA TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAA CAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0039 a0023c0031t0001g0039	1	198	0.0051	1632	c.204 others(1653): Show c.2046+10689_2046+10690insGATGATGCTGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAG TCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACC AGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGA TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347392	T T	TGGACCTG others(1625): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAG TCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGA TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0189	1	198	0.0051	1632	c.204 others(1653): Show c.2046+10689_2046+10690insGATGATGCTGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGC TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAG AACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347392	T T	TGGACCTG others(1625): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAG TCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGA TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0008 a0001c0004t0011g0008	1	198	0.0051	1632	c.204 others(1653): Show c.2046+10689_2046+10690insGATGATGCTGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGC TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAG AACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347392	T T	TGGACCTG others(1625): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAG TCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGA TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02809.hp2 others(3): Show HG02145.hp2 HG02486.hp1 HG02809.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp1	a0001 a0016 a0001 a0016	a0001c0004 a0016c0029 a0001c0004 a0016c0029	a0001c0004t0001 a0016c0029t0006 a0001c0004t0001 a0016c0029t0006	a0001c0004t0001g0106 a0001c0004t0001g0108 a0001c0004t0001g0111 others(3): Show a0001c0004t0001g0106 a0001c0004t0001g0108 a0001c0004t0001g0111 a0001c0004t0001g0113 a0001c0004t0001g0119 a0016c0029t0006g0110	6	198	0.0303	1632	c.204 others(1653): Show c.2046+10689_2046+10690insGATGATGCTGGACCAGTCATCTCA GGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTC AGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCT GGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGC TGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG ATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGA TGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATG ATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGAT GATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAG ATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAG AACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGA		TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56					INFO_REALIGN_3_PRIME	chr5	TogoVar
APBA2_chr15_28880974_29123315	29063614	C C	CGGGGAGT others(1626): Show CGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATC TGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGGTCAGTGTCT GTATGGGTAGGGAGGGAAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGA GGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCT GGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGGTCAGTGTCTG TATGGGTAGGGAGGGAAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAG GGGAGTTGATCTGGTCAGTGTCTGTATGGGTGATGCAGGGAGTTGATCTG GTCAGTGTCTGTATGGGTGGTGCAGGGAGTTGATCTGGTCAGTGTCTGTA TGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGG GAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGG TCAGTGTCTGTATGGGTTGGGAGGGAAGTTGATCTGGTCAGTGTCTGTAT GGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGATGCGGGG AGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTC AGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGG GTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAG TTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAG TGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGT GGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTT GATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTG TCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGG GGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGA TCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTC TGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGG AGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATC TGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTG TATGGGTGGGGAGGGGAGTTGATCTGGGTCAGTGTCTGTATGGGTGGGGA GGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGAAGTTGATCT GGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGT ATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGG GGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGG TCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGGTCAGTGTCTGTA TGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGG GAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02258.hp1 others(8): Show HG01884.hp1 HG01891.hp2 HG02258.hp1 HG02486.hp2 HG02647.hp1 HG02818.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0012 a0002c0002 a0002c0003 a0002c0012	a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 others(6): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0011 a0002c0002t0043 a0002c0002t0045 a0002c0003t0006 a0002c0003t0018 a0002c0012t0010	a0002c0002t0003g0193 a0002c0002t0006g0098 a0002c0002t0006g0161 others(8): Show a0002c0002t0003g0193 a0002c0002t0006g0098 a0002c0002t0006g0161 a0002c0002t0008g0192 a0002c0002t0011g0123 a0002c0002t0043g0200 a0002c0002t0045g0113 a0002c0003t0006g0189 a0002c0003t0018g0145 a0002c0003t0018g0146 a0002c0012t0010g0027	11	204	0.0539	1633	c.951 others(1650): Show c.951+8831_951+8832insTCAGTGTCTGTATGGGTGGGGAGGGGAG TTGATCTGGGTCAGTGTCTGTATGGGTAGGGAGGGAAGTTGATCTGGTCA GTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGG TGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGT TGATCTGGGTCAGTGTCTGTATGGGTAGGGAGGGAAGTTGATCTGGTCAG TGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGT GATGCAGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCAGGGAGTT GATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTG TCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGG GGAGGGGAGTTGATCTGGGTCAGTGTCTGTATGGGTTGGGAGGGAAGTTG ATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGT CTGTATGGGTGATGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGG GAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGAT CTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCT GTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGC GGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCT GGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGT ATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGG GGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGG TCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTAT GGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGG AGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTC AGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGG GTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAG TTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGGTCA GTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGG TGGGGAGGGAAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGT TGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGT GTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTG GTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTG ATCTGGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTG TCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGG GGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGA TCTGG		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(1626): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCTGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCAT AGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATG CATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGT GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGCGAGTAGACGGT CAGCGTGCATAGGGCCGGGGGCAGGGTGTGTACGGGGCGGGTGAGTAGAC GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	338	0.0030	1633	c.300 others(1650): Show c.300-9376_300-9375insGGCATGCATAGGGCTGGAGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCG GGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGG CCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATA GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGCGAGTAGACG GTCAGCGTGCATAGGGCCGGGGGCAGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATA GGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMTA1_chr1_6780454_7774706	7520219	C C	CCTCCTCC others(1626): Show CCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCTCCTCCCTC CTCCTCCTCCCCTTCCCTCCTCCTCCTCCCCTCCTCCCTCCACCTCCCCT CCTCCCTCCACTTCCTCCCCTCCTCCCTCCTCCCCCTCCTCCTCCTTCTC CTCCCCCTCCTCCTCTTCCTCCTCCCTCCACTTCCTCCCCTCCTCCCTCC TCCCCCTCCTCCTCTTCCTCCTCCCCCTCCTCTCTCCCCCTCCTCCTCTT CCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCCCTCCCCCTCCC CTCCCCTCCTCCTTCCTCCTCCCCCTCCTCCTCTTCCTCCTCCCCCTCCT CCTCTTCCCCCTCCTCCTCTCCCCTCCTCCTCCTCCTCCCTTCTCCTCCT CCTCCTCCCTTCTCCTCCTCCCCCCTCCTCCTCTCCCTCCCCCTCCACCT CCCCCTCCACCTCCCCCTCCTCCCCTCCTCCCCCCTCCTCTCTCCTCCTC CTCCCTCCTCCTCTCCCCTCCTCCCCTCCTCCTCCTTCTCCTCCCCCTCC TCTTCCTCCCCCTCCCCCTCCTCTCCCTCCCCTCCTCCTCTTCCTCCTCC CCCTCCTCCTCTTCCTTCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCTC CCCCTCCTCCTCCTCCCCTCCTCCCTCTTCCCCCTCCTCCTCCTCCCCCT CCCCCTCCTCTCCCTCCCTTCCTCCTCTTCCTCCTCCCCCTCCTCCTCTT CCTCCTTCCCCTCCTCCTATTCCCCCTCCTCCTCTTCCCCCTCCTCCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCTCCC CCTCCTCCTCCCCCTCCCCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCT CCCCTCCTCCTCCCTCCTCCTCTCCCCTCCTCCTCCCTCCTCCTCTCCCC TCCTCTCCCCTCCTCTCCCCTCCTCCTCCTCCTCTCTCCTCCTCCTCCCC TCCTCCCTCCTCCTCCTCCCCTCCTCCCTCTTCTTCCTCCCCTCCTCCCT CCTCTTCCTCCCCTCCTCCCTCCTCCCCCTCCTCCTTCTCCTTCTCCTCC TCTTCCCCCTCCTGCCTCCTCCCCCCTCCTCCTCCCCCTCCCCCTCCTCC TCCCCCTCCCCCTCCTCCTCCACCTCCCCCTCCTCCCCCTCCCCCTCTCC CCCTCCTCTCCCCCTCCTCTCCCCCTCCTCCCCTCCTCCCTCCTCCCGCC TCCTCCTCTCTCCTCCTCCTCCCTCCTCCTCTCCCCTCCTCCCCTCCTCC CTCCTCCCCCCTCCTCCTCCTTCTCCTCCCCCTCCTCTTCCTCCCCCTCC CCCTCCTCTCCCTCCCCTCCTCCTCTTCCTTCTCCCCCTCCTCCTCTTCC CTCTCCTCCTCTTTCCCCTCCTCCCTCCTCCTCCTCCTCCCCCTCCTTCT CCCCCTCCTCCTCTTCCCCCTCCTCCTCTTTCCCCTCCTCCCTCCTCCGC CCTCCTCCTCCCCCTCCCTCTCCTCCTCCGCCTCCCCTTCCTCCTCCCTC TCCCCCTCCTCCTCTCCCTCCCCCTCCTCACCTCCTCCCTCCTCCCCCTC CTCCTCCCCCTCCCCCTCCTCCTCCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	58	0.0172	1633	c.510 others(1652): Show c.510+52328_510+52329insTCCTCCTCCTCCTCCCTCCTCCTCCT CCCCTCCTCCCTCCTCCTCCTCCCCTTCCCTCCTCCTCCTCCCCTCCTCC CTCCACCTCCCCTCCTCCCTCCACTTCCTCCCCTCCTCCCTCCTCCCCCT CCTCCTCCTTCTCCTCCCCCTCCTCCTCTTCCTCCTCCCTCCACTTCCTC CCCTCCTCCCTCCTCCCCCTCCTCCTCTTCCTCCTCCCCCTCCTCTCTCC CCCTCCTCCTCTTCCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTC CCCTCCCCCTCCCCTCCCCTCCTCCTTCCTCCTCCCCCTCCTCCTCTTCC TCCTCCCCCTCCTCCTCTTCCCCCTCCTCCTCTCCCCTCCTCCTCCTCCT CCCTTCTCCTCCTCCTCCTCCCTTCTCCTCCTCCCCCCTCCTCCTCTCCC TCCCCCTCCACCTCCCCCTCCACCTCCCCCTCCTCCCCTCCTCCCCCCTC CTCTCTCCTCCTCCTCCCTCCTCCTCTCCCCTCCTCCCCTCCTCCTCCTT CTCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTCCCTCCCCTCCTC CTCTTCCTCCTCCCCCTCCTCCTCTTCCTTCTCCCCCTCCTCCTCCCCCT CCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCCTCTTCCCCCTCC TCCTCCTCCCCCTCCCCCTCCTCTCCCTCCCTTCCTCCTCTTCCTCCTCC CCCTCCTCCTCTTCCTCCTTCCCCTCCTCCTATTCCCCCTCCTCCTCTTC CCCCTCCTCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCTCCCCCTCCTCCTCCCCCTCCCCCTCCTCCTCTCCCTCCCC CTCCTCCTCCTCTCCCCTCCTCCTCCCTCCTCCTCTCCCCTCCTCCTCCC TCCTCCTCTCCCCTCCTCTCCCCTCCTCTCCCCTCCTCCTCCTCCTCTCT CCTCCTCCTCCCCTCCTCCCTCCTCCTCCTCCCCTCCTCCCTCTTCTTCC TCCCCTCCTCCCTCCTCTTCCTCCCCTCCTCCCTCCTCCCCCTCCTCCTT CTCCTTCTCCTCCTCTTCCCCCTCCTGCCTCCTCCCCCCTCCTCCTCCCC CTCCCCCTCCTCCTCCCCCTCCCCCTCCTCCTCCACCTCCCCCTCCTCCC CCTCCCCCTCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCTCCCCTCCT CCCTCCTCCCGCCTCCTCCTCTCTCCTCCTCCTCCCTCCTCCTCTCCCCT CCTCCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTTCTCCTCCCCCTCCTC TTCCTCCCCCTCCCCCTCCTCTCCCTCCCCTCCTCCTCTTCCTTCTCCCC CTCCTCCTCTTCCCTCTCCTCCTCTTTCCCCTCCTCCCTCCTCCTCCTCC TCCCCCTCCTTCTCCCCCTCCTCCTCTTCCCCCTCCTCCTCTTTCCCCTC CTCCCTCCTCCGCCCTCCTCCTCCCCCTCCCTCTCCTCCTCCGCCTCCCC TTCCTCCTCCCTCTCCCCCTCCTCCTCTCCCTCCCCCTCCTCACCTCCTC CCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCCTCCTCCTCCTCTCCTCTC CTCCTCC		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(1626): Show TGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGG ACTACTGTATACACACCGGCTGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAG GGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTAT ACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGG ATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTAC TGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGA TGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGG ACTACTGTATACACACGGGATGAGGATAAGGGGGGACTACTGTACACACA CGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGG GACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACAC ACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGAGGATGA GGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATAC ACACCAGATGAGGATAAGGGGGGACTACTGTATACACACACAGGATGAGG ATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGACTAT TGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCAGA TGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAG ACTACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACA CGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGG GGACTACTGTATACACACCGGATGAGGATAAGGGGGGGACTACTGTATAC ACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGAT AAGGGGAGACTACTGTATACACACGGGATGAGGATGAGGGACTATTGTAT ACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGG ATAAGGGGGGACTACTGTATACACACACGGGATGAGGATAAGGGGGGACT ACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACATTG GATGAGGATAAGGGGGGACTATTGTATACACACCAGATGAGGATAAGGGG GGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACA CACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGAGGATG AGGGACTATTGTATACACACCAGATGAGGATAAGGGGGACTACTGTATAC ACACCGGATGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGAT AAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTG TATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATG AGGACAAGCGGGAACTACTGTATACACACCGGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG01346.hp2 others(1): Show HG00738.hp2 HG01168.hp2 HG01346.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0006 a0001c0001t0001g0169 a0001c0001t0001g0170	4	370	0.0108	1633	c.891 others(1648): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCC CCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCG GTGTGTATACAGTAGTCCCCCTTATCCTCATCTGGTGTGTATACAATAGT CCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCC GGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTA GTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCCCCTTATCCT CATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATA CAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATACAGTAGTCCCCCC TTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGT GTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCG GTGTGTATACAGTAGTCCCCCCCTTATCCTCATCCGGTGTGTATACAGTA GTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCAT CCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAG TAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATC CTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTA TACAATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCC TTATCCTCATCCTGTGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAG TCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATC CGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGT AGTCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCAT CCCGTGTGTGTACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAG TAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATC CTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTA TACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCC TTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGT GTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTATCTACAGTAGTC CCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCAT CCGGTGTGTATACAGTAGTCCCCCCTTATCCTCAGCCGGTGTGTATACAG TAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATC CTC		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16						chr5	TogoVar
CUL2_chr10_35003551_35095341	35049922	A A	AGAAAACA others(1626): Show AGAAAACAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT TTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGG GGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAA ACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCCT TCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGAC TCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTG CACTGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGA GAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGA GGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTC TTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCT TTCCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTCT CAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGAGCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCG GGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCTGG GCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0229 a0001c0005t0001g0229	1	300	0.0033	1633	c.424 others(1648): Show c.424-158_424-157insCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CCGCCCAGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCC CGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCG GGAGGGAGATGGGGGGCTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTC ATTGAGAACGGGCCAGGATGACAATGGCGGCATTGTGGAATAGAAAGGCG GGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTA GAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAA TTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGT GCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGC AGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTT AAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTG CGGAAGGCCGCGGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCAC TTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAA TCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTA AAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTTGTT TTC		CUL2	ENSG00000108094.17	transcript	ENST00000374749.8	protein_coding	5/20						chr10	TogoVar
DCLK2_chr4_150073445_150262438	150251277	C C	CACATCCC others(1626): Show CACATCCCCCACACCCCCATCCCCCACATCCCCCACACCACACATCCCCC ACACCCCCCACATCCCCCACACCCCCCACATCCCCCCACATCCCCCACAT CCCCCACACCCCCCACACATCCCCCACACCCCCCACACATCCCCCACACC CCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCCCACACC CCCCACATCCCCACACCCCCCACATCCCCCACACCCCCATCCCCCACATC CCCCACACCCCCACATCCCCCCACACCCCCCACACCCCCACACACCCCCC ACACCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCC CACACCCCCACACACCCCCCACATCCCCCACACCTCCCACACCCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCACACATCCCCCACACCCCC ACATCCCCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCC CACACCCCCCACATCCCCACACCCCCCACATCCCCCACACCCCCATCCCC CACATCCCCCACACCCCCCACACCCCCCACATCCCCACACCCCCCACATC CCCCACACCCCCATCCCCCACATCCCCCACACCCCCCACACCCCCCACAC CCCCCACATCCCCCACACCCCCATCCCCCACATCCCCCCACACCCCCCAC ACCCCCACACATCCCCCACACCCCCACATCCCCCACACCCCCATCCCCCA CATCCCCCACACCCCCCACACCCCCCACACCACACACCCCCCACACACCC CACACCCCCCACATCCCCCACACCCTCCACATCCCCCCCAAATCCCCCAC ACCCCCACACATCCCCCACACCCCCCACATCCCCCCCAAATCCCCCACAC CCCCACACATCCCTCACACCCCCCAACACCCCCACACCCCCACACACCCC CCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCT CCCCACACCCCCCACATCCCCACACCCCCATCCCCCACACTCCCCACACC CCCCACACCCCCCACATCCCCCACACCACACATCCCCACACCCCCCACAT CCCCCACACCCCCCACATCCCCCCACACCCCCACACACCCCCACACCACA CATCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCACACCA CACATCCCCCACACCCCCAAATCCCCCACACCCCCCACACCCCCACACAC CCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCACACCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCAAATCCCCCACACCCCCCACATCCCCACACCCCCCAAA TCCCCCACACCTCCCCCATCCCCCACACCCCCCCACACCCCCCACATCCC CACACACCACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCAC ACCACACATCCCTCACACCCCCAACACCCCCACACCTCCCACACCTCCCA CATCCCCCACACCCCCCAAATCCCCCATACCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	116	0.0086	1633	c.207 others(1652): Show c.2073+1593_2073+1594insACATCCCCCACACCCCCATCCCCCAC ATCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCC ACATCCCCCCACATCCCCCACATCCCCCACACCCCCCACACATCCCCCAC ACCCCCCACACATCCCCCACACCCCCACATCCCCCACACCCCCATCCCCC ACATCCCCCACACCCCCCACACCCCCCACATCCCCACACCCCCCACATCC CCCACACCCCCATCCCCCACATCCCCCACACCCCCACATCCCCCCACACC CCCCACACCCCCACACACCCCCCACACCCCCCACACCACACATCCCCCAC ACCCCCAAATCCCCCACACCCCCCACACCCCCACACACCCCCCACATCCC CCACACCTCCCACACCCCCACACACCCCCCACACCACACATCCCCCACAC CCCCACACATCCCCCACACCCCCACATCCCCCACATCCCCCACACCCCCA TCCCCCACATCCCCCACACCCCCCACACCCCCCACATCCCCACACCCCCC ACATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCCCACACCCCC CACATCCCCACACCCCCCACATCCCCCACACCCCCATCCCCCACATCCCC CACACCCCCCACACCCCCCACACCCCCCACATCCCCCACACCCCCATCCC CCACATCCCCCCACACCCCCCACACCCCCACACATCCCCCACACCCCCAC ATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCCCACACCCCCCA CACCACACACCCCCCACACACCCCACACCCCCCACATCCCCCACACCCTC CACATCCCCCCCAAATCCCCCACACCCCCACACATCCCCCACACCCCCCA CATCCCCCCCAAATCCCCCACACCCCCACACATCCCTCACACCCCCCAAC ACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCA AATCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCCCCACACCC CCATCCCCCACACTCCCCACACCCCCCACACCCCCCACATCCCCCACACC ACACATCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCCACA CCCCCACACACCCCCACACCACACATCCCCCACACCCCCCAACACCCCCA CACCCCCACACACCCCCACACCACACATCCCCCACACCCCCAAATCCCCC ACACCCCCCACACCCCCACACACCCCCCACATCCCCCACACCTCCCACAC CCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACCCCCA CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACCCC CACACACCCCCCACACCACACATCCCCCACACCCCAAATCCCCCACACCC CCCACATCCCCACACCCCCCAAATCCCCCACACCTCCCCCATCCCCCACA CCCCCCCACACCCCCCACATCCCCACACACCACAAATCCTCCACACCCCC CAACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCAACAC CCCCACACCTCCCACACCTCCCACATCCCCCACACCCCCCAAATCCCCCA TACCCCT		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15						chr4	TogoVar
FHOD3_chr18_36292713_36785220	36463416	T T	TAATATAT others(1626): Show TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAA TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAA TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAA TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAA TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAT AATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAAT AATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAAA TATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAATAA TATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAATAA TATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAATAA TATATATTTTTATTTAAAAAAATATATATTTTTAAAAAATATATATATTT TTATTTAAAAAAATATATATTTTTATTTAAAAAAATATATATTTTTATTT AAAAAAATATATATTTTTATTTAAAAAAATATATATTTTTATTTAAAAAA ATATATATTTTTATTTAAAAAAATATATATTTTTATTTAAAAAAATATAT ATTTTTATTTAAAAAATATATATTTTTATTTAAAAAAATAATATATATTT TTATTTAAAAAAATAATATATATTTTTATTTAAAAAAATAATATATATTT TTATTTAAAAAAATATATATTTTTTTATTTAAAATATATATATTTTTATT TAAAAAATATAATATATATTTTTATTTAAAAAATATAATATATATTTTTA TTTAAAAAAATATAATATATATTTTTATTTAAAAAAATATAATATATATT TTTATTTAAAAAAATATAATATATATTTTTATTTAAAAAAATATAATATA TATTTTTATTTAAAAAAATATAATATATATTTTTATTTAAAAAAATATAT ATATTTTTATTTAAAAAATATAATATATATTTTATTTAAAAAAATATAAT ATATATTTTTATTTAAAAATATGTATTTTTATTTAAAAAATATAATATGT ATTTTTATTTAAAAACTATAATATGTATTTTTATTTAAAAACTATAATAT GTATTTTTATTTAAAAACTATATGTATTTTTATTTAAAAAAATATATATT TTTATTTAAAAACTATAATATGTATTTTTATTTAAAAACTATAATATGTA TTTTTATTTAAAAAAATAATATGTATTTTTATTTAAAAAATATATAATAT TTTTTTTTAAAAATATATAATATTTTTTATTTAAAAAATATATAATATAT TTTTTATTTAAAAAATATATTATATATTTTTATTTAAAAAATATATTATA TATTTTTTATTTAAAAAATATATTATATATTTTTTATTTAAAAAATATAT ATATTTAAAAATATATACCTTTATTTAAAAATATATATTTCTTTATTTAA AAATATATATTTCTTTATTTAAAAATATATATTTTTGTTTAAAAATATAT ATTTTTGTATTTAAAAATATATATTTTATTTAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0089 a0003c0007t0001g0089	1	168	0.0060	1633	c.338 others(1652): Show c.338-38493_338-38492insATAATATATATTTTTATTTAAAAAAA TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAA TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAA TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAA TAATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAT AATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAAT AATATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAAA TATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAATAA TATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAATAA TATATATTTTTATTTAAAAAAATAATATATATTTTTATTTAAAAAAATAA TATATATTTTTATTTAAAAAAATATATATTTTTAAAAAATATATATATTT TTATTTAAAAAAATATATATTTTTATTTAAAAAAATATATATTTTTATTT AAAAAAATATATATTTTTATTTAAAAAAATATATATTTTTATTTAAAAAA ATATATATTTTTATTTAAAAAAATATATATTTTTATTTAAAAAAATATAT ATTTTTATTTAAAAAATATATATTTTTATTTAAAAAAATAATATATATTT TTATTTAAAAAAATAATATATATTTTTATTTAAAAAAATAATATATATTT TTATTTAAAAAAATATATATTTTTTTATTTAAAATATATATATTTTTATT TAAAAAATATAATATATATTTTTATTTAAAAAATATAATATATATTTTTA TTTAAAAAAATATAATATATATTTTTATTTAAAAAAATATAATATATATT TTTATTTAAAAAAATATAATATATATTTTTATTTAAAAAAATATAATATA TATTTTTATTTAAAAAAATATAATATATATTTTTATTTAAAAAAATATAT ATATTTTTATTTAAAAAATATAATATATATTTTATTTAAAAAAATATAAT ATATATTTTTATTTAAAAATATGTATTTTTATTTAAAAAATATAATATGT ATTTTTATTTAAAAACTATAATATGTATTTTTATTTAAAAACTATAATAT GTATTTTTATTTAAAAACTATATGTATTTTTATTTAAAAAAATATATATT TTTATTTAAAAACTATAATATGTATTTTTATTTAAAAACTATAATATGTA TTTTTATTTAAAAAAATAATATGTATTTTTATTTAAAAAATATATAATAT TTTTTTTTAAAAATATATAATATTTTTTATTTAAAAAATATATAATATAT TTTTTATTTAAAAAATATATTATATATTTTTATTTAAAAAATATATTATA TATTTTTTATTTAAAAAATATATTATATATTTTTTATTTAAAAAATATAT ATATTTAAAAATATATACCTTTATTTAAAAATATATATTTCTTTATTTAA AAATATATATTTCTTTATTTAAAAATATATATTTTTGTTTAAAAATATAT ATTTTTGTATTTAAAAATATATATTTTATTTAAAAATATATATTTTTATT TAAAAAA		FHOD3	ENSG00000134775.16	transcript	ENST00000590592.6	protein_coding	3/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(1626): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGA TGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTA ATGACGGTGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG ATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGA TGGTGAGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGATG GCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGT GATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGA TGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATG ATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTG GGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTG ATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGT GATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGG TGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0089 a0089	a0089c0085 a0089c0085	a0089c0085t0001 a0089c0085t0001	a0089c0085t0001g0157 a0089c0085t0001g0157	1	186	0.0054	1633	c.956 others(1650): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCA CCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACC CCCACCGTCATTACCCCCACCCCACCGTCATTACCCCCACCCCCACCCCC ACCATCACCCCCACCATCATCACCCTCACCATCATCACCCCCACCATCAC CATCATCACCCCCACCATCATCACCCTCACCCCCACCCCCACCCCCACCC CCACCCCCACCATCATCACCTCTACCATCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT TACCCCCACCCCACCGTCATTACCCCCACCCCCACCCCCACCATCACCCC CACCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCC CCACCATCATCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACC ATCATCACCTCTACCATCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCGCCATCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACCCCACCGTCATTACCCCCACCATCATCACCC TCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCATC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCC CACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCAC CGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCCCACCCCCA CCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACATCACCGT CATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTCCACCCCCATC ATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCACCGTCATCAC CCCCACCATCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCC CCACC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LMF1_chr16_848634_975984	859649	C C	CAGTGGTG others(1626): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAG TGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCAC GGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTG TGAGTGGTGTCTCGAGACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGC ACTGATGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGAT GTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGG GACGGGTGTGCAGTGGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATG GGTGTGACTGGTGTCTCGGGACGGTTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCA CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTCGTGTCACGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCACGGGACGGGTGTGAGTGATGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCT CGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGG ACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGG GTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGC GAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGG GTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0001 a0004c0026t0001	a0004c0026t0001g0127 a0004c0026t0001g0127	1	294	0.0034	1633	c.153 others(1652): Show c.1530-4944_1530-4943insTGCACACCCACCCCGAGACACCACTC ACACCCACCCCGAGACACCACTCACACCCACCCCGTGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGA CACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACC ACTCGCACCCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTC GCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCCG TCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACATCACTCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACGACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGTGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACATCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACA CCACTCACACCCGTCCCGAGACACCACTGCACAACCGTCCCGAGACACCA GTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACCACTGCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGT CCCGTGACATCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTG ACATCAGTGCACACCCGTCCCGAGACATCACTGCACACCCGTCTCGAGAC ACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT CACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACA CCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCC ATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCG TGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(1626): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCAC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCAC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCAC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCACCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	292	0.0034	1633	c.218 others(1648): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGA GGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTG AGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36						chr1	TogoVar
PHRF1_chr11_571470_617222	585280	C C	CCTTTCCA others(1626): Show CCTTTCCAGCTTGAGGTAGTAGCTCTTTTCAGCTTGAGGTAGTAGCTCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC ATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0008 a0013c0022t0008	a0013c0022t0008g0123 a0013c0022t0008g0123	1	279	0.0036	1633	c.215 others(1650): Show c.215-1957_215-1956insTCTTTTCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCATG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCA TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGC TTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTA GTAGC		PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr11	TogoVar
RUFY1_chr5_179545554_179615012	179594578	A A	AGTGAAAT others(1626): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTC ACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCGCC TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACT ACAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGATAC GGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTGAT CCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG CCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATATGC TATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTAAT GTCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATTTT TCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGG CCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTC CCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGG GGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAAT CCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCA CGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAG GAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAG CTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACC CCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTTAGTTTCTCAA TGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAG ATGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAG CCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGA CCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTC AGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCT TGAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGG CTCATGCCTGTAATCGTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACG AGGTCAGGAGATTGAGACCATTTTGGCTAACATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	376	0.0027	1633	c.141 others(1650): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTC ACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCC TGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTTGT ATTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAAC TCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCT TTTCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGT TCTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATACAG TCTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGA GTCTCACGCTGTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCAC TGCAACCTCTGTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTAT TTTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTC CTGACCTCAGGTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAT AGGCGTGAGCTACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCT CTTGTACACACACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTC TGTCATGGCTAAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGT GAACCCAGTTGCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTC TTCTTAGTTTCTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAA CCATTCAGGGCTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAG CTGGCGAACATTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGA GCAAAGACTCCCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGC TGAGAGCCTTGAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAA TTGGTAGAATACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATAT GGCCGGGCGCGGTGGCTCATGCCTGTAATCGTAGCACTTTGGGAGGCCGA GGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATTTTGGCTAACATGG TGAAA		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179594578	A A	AGTGAAAT others(1626): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAC TACAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGATA CGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTGA TCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACT GCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATATG CTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTAA TGTCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATTT TTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGG CCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTC CCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGG GGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAAT CCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCA CGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAG GAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAG CTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACC CCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAA TGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAG ATGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAG CCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGA CCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTC AGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCT TGAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGG CTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACG AGGTCAGGAGATTGAGACCATTCTGGCTGACATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01517.hp1 HG00323.hp2 HG00733.hp1 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0224 a0001c0003t0002g0242 a0001c0003t0002g0244 a0001c0003t0002g0224 a0001c0003t0002g0242 a0001c0003t0002g0244	3	376	0.0080	1633	c.141 others(1650): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT GGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGT CACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTTG TATTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAA CTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATC TTTTCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTG TTCTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATACA GTCTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGA GTCTCACGCTGTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCAC TGCAACCTCTGTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTAT TTTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTC CTGACCTCAGGTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAT AGGCGTGAGCTACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCT CTTGTACACACACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTC TGTCATGGCTAAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGT GAACCCAGTTGCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTC TTCTGAGTTTCTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAA CCATTCAGGGCTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAG CTGGCGAACATTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGA GCAAAGACTCCCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGC TGAGAGCCTTGAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAA TTGGTAGAATACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATAT GGCCGGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGA GGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTGACATGG TGAAA		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179594578	A A	AGTGAAAT others(1626): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTG TCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA CTACAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAT ACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTG ATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC TGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATAT GCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTA ATGTCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATT TTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGG CCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTC CCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGG GGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAAT CCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCA CGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAG GAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAG CTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACC CCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAA TGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAG ATGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAG CCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGA CCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTC AGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCT TGAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGG CTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACG AGGTCAGGAGATTGAGACCATTCTGGCTGACATG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19062.hp2 NA19012.hp2 NA19062.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0247 a0001c0005t0002g0250 a0001c0005t0002g0247 a0001c0005t0002g0250	2	376	0.0053	1633	c.141 others(1650): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA TGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGG TCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTT GTATTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAA ACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAAT CTTTTCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCT GTTCTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATAC AGTCTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGA GTCTCACGCTGTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCAC TGCAACCTCTGTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTAT TTTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTC CTGACCTCAGGTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAT AGGCGTGAGCTACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCT CTTGTACACACACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTC TGTCATGGCTAAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGT GAACCCAGTTGCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTC TTCTGAGTTTCTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAA CCATTCAGGGCTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAG CTGGCGAACATTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGA GCAAAGACTCCCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGC TGAGAGCCTTGAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAA TTGGTAGAATACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATAT GGCCGGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGA GGCAGGTGGATCACGAGGTCAGGAGATTGAGACCATTCTGGCTGACATGG TGAAA		RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
RUSC2_chr9_35485111_35566895	35495153	T T	TATAGTAT others(1626): Show TATAGTATATATTATATATTATATATACTATAGTATATATTATATATTAT AGTATATATTATATATTATATATACTATAATATATATTATATATTATATA TACTATAGTATATATTATATATACTATAGTATATATTATATATACTATAG TATATATTATATATACTATAGTATATATTATATATTATATATACTATAGT ATATATTATATATTATATATACTATAGTATAATATATAAAATATATATTA TATATACTATAGTATATATAATATATAAAATATATAATATATACTATAGT ATAATATATAAAATATATATTATATATATATAATATATATTTTATATATT ATACTATAGTATATATAATATATATTTTATATATTATATATACTATAGTA TATATAATATATATTTTATATATTATACTATAGTATATATAATATATATT TTATATATTATATATACTATAGTATATATAATATATAAAATATATATTAT ATATACTATAGTATATATAATATATAAAATATATATTATATATACTATAG TATATATAATATATATTTTATATATTATATATACTATAGTATATATAATA TATATTTTATATATTATATATACTATAGTATATATAATATATATTTTATA TATTATATATACTATAGTATATATAATATATATTTTATATATTATATATA CTATATATACTATAGTATTATATATACTATTATATATACTGTATATACTA TTATATAGTATATATAATAGTATATATTATACATTATATACTATATATTA TATATACTATCATATATATTATATATTATATATACTATTATATATACTAT AGTATATATAATATATATTATATATACTATAGTATATATAATATATAATA TATACTATATATTTTATATATTATATTTTATATATAATATAATATATTTT ATATATTATATAATATATTATATATAATATTTTATTATGTAATATATAAT ATATATTTTATATATTATATATATTTTATTATATAATATATTTATATATA ATATATATTTTATATATAATATAATATATATTTTATATAATGTATTATAT AATATATTATAATAATATATAACATATTTTATTATATATTATATAATAAT ATATAACATATTATATTATATATTATATAATAATATATAACATATTATAT ATTATATAATAATATATAACATATTTTATTATATAATATATAATATATTA TATAATATATATTTTATTGTATATAATATATTTTATTGTATATTATATAT AATATATTTTATTGTATATTATATATAATATATTTTATTATATAATTTAT TATAATATATATATTTTATAATATATATAATATATTTTATTATTATATAT TTTATTATAATATATACAATATATTTTATTATAATATATAATATATTTTA TAATATATATATTTTATTATAATATATATATTTTATAATATATATATTTT ATAATATATATATTTTATTATAATATATATATTTTATAATATATATATTT TATTATAATATATATATTTTATTATAATATATATATTTTATTATATATAA TATATTTTATAATATATATAATATATTTTATTAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	322	0.0031	1633	c.-93 others(1650): Show c.-93+4984_-93+4985insGTATATATTATATATTATATATACTATA GTATATATTATATATTATAGTATATATTATATATTATATATACTATAATA TATATTATATATTATATATACTATAGTATATATTATATATACTATAGTAT ATATTATATATACTATAGTATATATTATATATACTATAGTATATATTATA TATTATATATACTATAGTATATATTATATATTATATATACTATAGTATAA TATATAAAATATATATTATATATACTATAGTATATATAATATATAAAATA TATAATATATACTATAGTATAATATATAAAATATATATTATATATATATA ATATATATTTTATATATTATACTATAGTATATATAATATATATTTTATAT ATTATATATACTATAGTATATATAATATATATTTTATATATTATACTATA GTATATATAATATATATTTTATATATTATATATACTATAGTATATATAAT ATATAAAATATATATTATATATACTATAGTATATATAATATATAAAATAT ATATTATATATACTATAGTATATATAATATATATTTTATATATTATATAT ACTATAGTATATATAATATATATTTTATATATTATATATACTATAGTATA TATAATATATATTTTATATATTATATATACTATAGTATATATAATATATA TTTTATATATTATATATACTATATATACTATAGTATTATATATACTATTA TATATACTGTATATACTATTATATAGTATATATAATAGTATATATTATAC ATTATATACTATATATTATATATACTATCATATATATTATATATTATATA TACTATTATATATACTATAGTATATATAATATATATTATATATACTATAG TATATATAATATATAATATATACTATATATTTTATATATTATATTTTATA TATAATATAATATATTTTATATATTATATAATATATTATATATAATATTT TATTATGTAATATATAATATATATTTTATATATTATATATATTTTATTAT ATAATATATTTATATATAATATATATTTTATATATAATATAATATATATT TTATATAATGTATTATATAATATATTATAATAATATATAACATATTTTAT TATATATTATATAATAATATATAACATATTATATTATATATTATATAATA ATATATAACATATTATATATTATATAATAATATATAACATATTTTATTAT ATAATATATAATATATTATATAATATATATTTTATTGTATATAATATATT TTATTGTATATTATATATAATATATTTTATTGTATATTATATATAATATA TTTTATTATATAATTTATTATAATATATATATTTTATAATATATATAATA TATTTTATTATTATATATTTTATTATAATATATACAATATATTTTATTAT AATATATAATATATTTTATAATATATATATTTTATTATAATATATATATT TTATAATATATATATTTTATAATATATATATTTTATTATAATATATATAT TTTATAATATATATATTTTATTATAATATATATATTTTATTATAATATAT ATATTTTATTATATATAATATATTTTATAATATATATAATATATTTTATT AAATA		RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(1626): Show CCCCCACTCTCCTCATTCTACCCTCCACAAGCATAGCTCCAACCCTCCCC CACTCTCCTCATTCTACCCTCCACAAGCATAGCTCCAACCCTCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTC CTCACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTC ATTCTACCCTCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTC TACCCTCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTACC CCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCC CCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCC ACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAA GCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCAT AGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTG CTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCATCGCTCC AACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGC CCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCAGCCCTCC CCCACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCA CTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTC CTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTC ATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCACTC TATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCC CCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCC ACAAGCATTGCTTCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACA AGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGC ATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCAC TCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCA ACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAA CCCTCCCCCCACTCTCCTCATTCTACCCCCCACAAGCATTGCTTCAACCC TCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCC CCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCT ACTCTCCTCACTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCT CCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCT CATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTC ATTCTACCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0087 a0003c0001t0001g0088 a0003c0001t0001g0087 a0003c0001t0001g0088	2	280	0.0071	1633	c.89- others(1646): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGTAGA ATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGAA TGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGA GGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGA GTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTA GGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGG GAGGGTTGAAGCAATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGGAG GGTTGGAGCTATGCTTGTGGGGGGGGTAGAATGAGGAGAGTTGGGGGAGG GTTGGAGCTATGCTTGGGGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTG GAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGGAGGGCTGGAGTG ATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATG CTTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGAAGCAATGCTT GTGGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGG GGGGATAGTGAGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGA TAGAGTGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGA ATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATG AGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAG AGTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGAGGAGAGTG GGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGGA GGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGG TTGGAGCGATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGG AGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAG CTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAAT GCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTT GTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGG GGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGAGGG TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGAGGGTAGA ATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTG AGGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGAGGGTAGAATGAGGAGAG TGGGGGAGGGTTGGAGCTATGCTTGTGGAGGGTAGAATGAGGAGAGTGGG G		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21						chr22	TogoVar
UBE2QL1_chr5_6443859_6501723	6448622	G G	GCAGAGCA others(1626): Show GCAGAGCAGGATGCTTCCTGCAAACATGGAAGCTTCGCGGTTCCCAGTCC TTCCAGCTCCTGGGGATCTAAACTTGGTTTTTGCTTGAAATTTCGCCAGA TTAAAAAAAGAGGAAGAGAGAGTTTAATGGGTTCAAGGAAGAAAGGGAGG CGCGGATGCGAGCATCCCAGTGGAAGGCAGACCGATCCGTGCCGGGGCAC TCCGGGGTCCGCAGAGGGGGTGCCCTGTCCCTGAGCCCCGACAGCCCGCG CTGGGCGCGCTTTTCCGCAGCCTTCAGAAAGGAGTCACCAGGCAGCGCTC CGCGGGCCCCTCCTCCCGGGACCCCTCTTGGGAACCCGGAGGCCCTCGGC GCGCCAGGCGCAAGGGGAGCGGGGTCGGCGAGGAGGGGTGAACTGGCGAA ACAAAGTCGTGACTCAGGGGCTTCTCTTCGGGGATCGCGGCGGGCACGCT CCGGGCATCCCACTCCCCGGCCCCGATTCTTGGATCGGTCCTCAAGAAAG CGGCCCCCGCGGGCCCCGAGCTGTGCGGAAAGGCCAGGCTCCTTCCGACC CGAAGGCATCTATAGGCTGCCTCCCAACCTTACCCAGATCGCGCTAACGG GGTTAAGTGGGGTCTGAGGCTCGGGCTGGGGGCCGCGGCGACCTGAGATC AGGGCAGGAGGGCCCCGTGCCTGAGACCCCCGGCGAGAGCGCCAGGCTCA CCCCCAGCGCCCCGCCCCCGCCCGGCTTCCCCGGCCTGGCCTGCGCCCCC AGCAGCCCCCAGCCCGGCCGGCCCGGCGCGCACCGCGGTCTCCCCCAAGC GGCCGCGCGCGTGTCGCCGCGGGAGCGGGCGGCGGGGGCGGCTCGGCGCA GGCAAGCCGGCGGCTCCGCCCCGCGCCCCCCCTCCCGGCCAGCAGGGCCG CCCCCTACGCGCCTAGCTCGGCTCAGACGGAGCAGCCGCCTCTGCAATGT CAGCAGCCGCAGCGGCGGCGGCGACGCGAGCGGCAGCAGCCCGGGCCCCG CGGTAGCCGCCAGCGCGGCACGGCCAGCAGGAGCGCCAGGCGCGAGCCCG CGGCCACTCGCTGCCTCCGGGGCACTGCGAGAGGCTTTGCGCTCCCCAGC GCGGCGTTCGGACTCGGGGCCAGCGCGGCCACGGCCGCGCACAAAGGACA GCAGACGCCGGGACTCGGGGGCTGTGCCCAGGGACCGGCCCGGGGACCCC CGCCCGCGCCGCGTCCCCTCCACGCCTCCCCTCCCCGGGCGGCCGGAGCG CGAGCCGGAGCGGGCCCCGTCATATGACAGCGGCGACGCCGCAGCCGGCG AGCGCGCGTGCTGCCTGCCCCGCTGCGCCACGGCCGCCGGCGCCTGGGGT GGCCCTTGCCTCGCCCCGCTGAGCGGTCGCCCGTCGCCGCCGCCCCGCGC CCCCCGCGCCCGGGCTTGCGGGCTCCGGGGGAGGAGCCGAGGGGAGCCCC CAGCCGGCGCCGAGCCTAAAATGGCCACTCTGCTGCGGAAGATCGGGCTC ATCCGCCTGCATAACCGGGACACCGAGGACCCCAAGCACCACCACAACCA CCGCGGCGGCGGCCAGCAGAGCGCGTCTCTGCGCGGCAAGGGCGGCGCCA AGAGCGGCGGCCACAAGCAACAGCAGCAGCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0149 a0001c0001t0013g0149	1	340	0.0029	1633	c.-27 others(1642): Show c.-272_-271insCAGAGCAGGATGCTTCCTGCAAACATGGAAGCTTCG CGGTTCCCAGTCCTTCCAGCTCCTGGGGATCTAAACTTGGTTTTTGCTTG AAATTTCGCCAGATTAAAAAAAGAGGAAGAGAGAGTTTAATGGGTTCAAG GAAGAAAGGGAGGCGCGGATGCGAGCATCCCAGTGGAAGGCAGACCGATC CGTGCCGGGGCACTCCGGGGTCCGCAGAGGGGGTGCCCTGTCCCTGAGCC CCGACAGCCCGCGCTGGGCGCGCTTTTCCGCAGCCTTCAGAAAGGAGTCA CCAGGCAGCGCTCCGCGGGCCCCTCCTCCCGGGACCCCTCTTGGGAACCC GGAGGCCCTCGGCGCGCCAGGCGCAAGGGGAGCGGGGTCGGCGAGGAGGG GTGAACTGGCGAAACAAAGTCGTGACTCAGGGGCTTCTCTTCGGGGATCG CGGCGGGCACGCTCCGGGCATCCCACTCCCCGGCCCCGATTCTTGGATCG GTCCTCAAGAAAGCGGCCCCCGCGGGCCCCGAGCTGTGCGGAAAGGCCAG GCTCCTTCCGACCCGAAGGCATCTATAGGCTGCCTCCCAACCTTACCCAG ATCGCGCTAACGGGGTTAAGTGGGGTCTGAGGCTCGGGCTGGGGGCCGCG GCGACCTGAGATCAGGGCAGGAGGGCCCCGTGCCTGAGACCCCCGGCGAG AGCGCCAGGCTCACCCCCAGCGCCCCGCCCCCGCCCGGCTTCCCCGGCCT GGCCTGCGCCCCCAGCAGCCCCCAGCCCGGCCGGCCCGGCGCGCACCGCG GTCTCCCCCAAGCGGCCGCGCGCGTGTCGCCGCGGGAGCGGGCGGCGGGG GCGGCTCGGCGCAGGCAAGCCGGCGGCTCCGCCCCGCGCCCCCCCTCCCG GCCAGCAGGGCCGCCCCCTACGCGCCTAGCTCGGCTCAGACGGAGCAGCC GCCTCTGCAATGTCAGCAGCCGCAGCGGCGGCGGCGACGCGAGCGGCAGC AGCCCGGGCCCCGCGGTAGCCGCCAGCGCGGCACGGCCAGCAGGAGCGCC AGGCGCGAGCCCGCGGCCACTCGCTGCCTCCGGGGCACTGCGAGAGGCTT TGCGCTCCCCAGCGCGGCGTTCGGACTCGGGGCCAGCGCGGCCACGGCCG CGCACAAAGGACAGCAGACGCCGGGACTCGGGGGCTGTGCCCAGGGACCG GCCCGGGGACCCCCGCCCGCGCCGCGTCCCCTCCACGCCTCCCCTCCCCG GGCGGCCGGAGCGCGAGCCGGAGCGGGCCCCGTCATATGACAGCGGCGAC GCCGCAGCCGGCGAGCGCGCGTGCTGCCTGCCCCGCTGCGCCACGGCCGC CGGCGCCTGGGGTGGCCCTTGCCTCGCCCCGCTGAGCGGTCGCCCGTCGC CGCCGCCCCGCGCCCCCCGCGCCCGGGCTTGCGGGCTCCGGGGGAGGAGC CGAGGGGAGCCCCCAGCCGGCGCCGAGCCTAAAATGGCCACTCTGCTGCG GAAGATCGGGCTCATCCGCCTGCATAACCGGGACACCGAGGACCCCAAGC ACCACCACAACCACCGCGGCGGCGGCCAGCAGAGCGCGTCTCTGCGCGGC AAGGGCGGCGCCAAGAGCGGCGGCCACAAGCAACAGCAGCAGCTGCA		UBE2QL1	ENSG00000215218.4	transcript	ENST00000399816.4	protein_coding					236		chr5	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1626): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCATCATCACCGGCACCACCGCCATTATCACC AGCACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAGT CATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACC GCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCAC CTCCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCA CCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACC ACCACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCAC TATCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTA CTATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCACCAGC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCA TTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCA TTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCA TTGTCACTACCACCACTACTATCGTCACCACCATCACCACTACCACCACC ATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCAT CACCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCA CCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACC ATTATCACCAGCACCAGCACCATCAGCGTCACTATCTCTATACCCACCAC CACCACCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACT ACTACCACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCAC TGCCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCA CCACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCA CCATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATC GTCATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCAC CATCATCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	228	0.0044	1633	c.127 others(1650): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACCACCACTCCTGTCATCACCACCAC CACCACCATTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCA GTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCT ATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTATCGT CACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCA GCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCACC ATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCATTGTCAC TACCACCACTACTATCGTCACCACCATCACCACTACCACCACCATTATCA CCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCTC CACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCA CCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCA CCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCACCA CTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACC ACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGCATCACTAT CTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTG TCATCATCACCATTATCACCAGCACCAGCACCATCAGCGTCACTATCTCT ATACCCACCACCACCACCATCATCACCGGCACCACCGCCATTATCACCAG CACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCA TCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCATTATC ACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTCATCAC CATCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTATTATCAC TAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCACCACCA TTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCTTTATC TCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCTTCACC ACCAC		WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1626): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCATCATCACCGGCACCACCGCCATTATCACC AGCACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAGT CATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACC GCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCAC CTCCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCA CCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACC ACCACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCAC TATCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTA CTGTCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTACC ACCACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCAC TATCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTA CTATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCACCAAC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCA TTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCA TTGTCACTACCACCACTACTATCGTCACCACCATCACCACTACCACCACC ATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCAT CACCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCA CCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACC ATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCAC CACCACCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACT ACTACCACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCAC TGCCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCA CCACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCA CCATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATC GTCATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCAC CATCATCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 NA18999.hp2 others(3): Show HG00639.hp2 HG01192.hp2 NA18999.hp2 NA19009.hp2 NA19012.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0027 a0002c0002t0001g0029 others(3): Show a0002c0002t0001g0023 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0061	6	228	0.0263	1633	c.127 others(1650): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACCACCACTCCTGTCATCACCACCAC CACCACCATTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCA GTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCT ATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTATCGT CACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCA GCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCACC ATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCATTGTCAC TACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCA GCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCACC ATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCATTGTCAC TACCACCACTACTATCGTCACCACCATCACCACTACCACCACCATTATCA CCAGCACCAACACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCA CCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCACCA CTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACC ACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGCATCACTAT CTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTG TCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCT ATACCCACCACCACCACCATCATCACCGGCACCACCGCCATTATCACCAG CACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCA TCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCATTATC ACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTCATCAC CATCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTATTATCAC TAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCACCACCA TTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCTTTATC TCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCTTCACC ACCAC		WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1626): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCATCATCACCGGCACCACCGCCATTATCACC AGCACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAGT CATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACC GCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCAC CTCCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCA CCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACC ACCACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCAC TATCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTA CTGTCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTACC ACCACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCAC TATCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTA CTATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCACCAGC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCA TTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCA TTGTCACTACCACCACTACTATCGTCACCACCATCACCACTACCACCACC ATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCAT CACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCA CCACCACCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACC ATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCAC CACCACCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACT ACTACCACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCAC TGCCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCA CCACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCA CCATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATC GTCATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCAC CATCATCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0228 a0003c0004t0001g0228	1	228	0.0044	1633	c.127 others(1650): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACCACCACTCCTGTCATCACCACCAC CACCACCATTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCA GTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCT ATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTATCGT CACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCA GCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCACC ATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCATTGTCAC TACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCA GCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCACC ATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCATTGTCAC TACCACCACTACTATCGTCACCACCATCACCACTACCACCACCATTATCA CCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCA CCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCACCA CTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACC ACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTAT CTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTACTG TCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCT ATACCCACCACCACCACCATCATCACCGGCACCACCGCCATTATCACCAG CACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCA TCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCATTATC ACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTCATCAC CATCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTATTATCAC TAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCACCACCA TTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCTTTATC TCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCTTCACC ACCAC		WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1626): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCATCATCACCGGCACCACCGCCATTATCACC AGCACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAGT CATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACC GCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCAC CTCCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCA CCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACC ACCACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCAC TATCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTA CTGTCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTACC ACCACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCAC TATCTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTA CTATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCACCAGC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCA TTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGC ACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAG TACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCA TTGTCACTACCACCACTACTATCGTCACCACCATCACCACTACCACCACC ATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCAT CACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCA CCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACC ATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCAC CACCACCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCA TCAGCATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTCACT ACTACCACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCAC TGCCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCATCGTCA CCACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCA CCATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATC GTCATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCAC CATCATCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	228	0.0044	1633	c.127 others(1650): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCATCATCACCGGCACCACCG CCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATACCCACC ACCACCACAGTCATCATTGTCACTACCACCACTCCTGTCATCACCACCAC CACCACCATTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCA GTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCT ATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTATCGT CACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCA GCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCACC ATCAGCATCACTATCTCTATACCCACCACCACCACTGTCATCATTGTCAC TACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCA GCATCACTACCACCACCAGTGTCATCACCGCCACCATCACCAGTACCACC ATCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCAC TACCACCACTACTATCGTCACCACCATCACCACTACCACCACCATTATCA CCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCA CCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCC ACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCAC CACTGTCATCATTGTCACTACCACCACTACTATCGTCACCACCATCACCA CTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACC ACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTAT CTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTG TCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCT ATACCCACCACCACCACCATCATCACCGGCACCACCGCCATTATCACCAG CACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCA TCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCATTATC ACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTCATCAC CATCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTATTATCAC TAGCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCACCACCA TTACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCTTTATC TCCAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCTTCACC ACCAC		WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(1627): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACAC TACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCC ACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCC ATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCA CCCCCACACTACCCACCCCCATCACCCCACACGACCCACCCCCATCACCC CCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACC CACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCAC CCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCC ATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCA CCCCCACACTACCCACCCCCATCACCCCACACTACCCATCCCCATCACCC CCACACGACCCACCCCATCACCCCACACGACCCACCCCCATCACCCTCAC TACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTAC CCACCCCCATCACCCCACACGACCCACCCCTATCACCCCACACTACCCAC CCCCATCACCCCACACTACCCATCCCCATCACCCCCACACGACCCACCCC ATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCAC CCTCACTACCCACCCCATCACCCCACACTACCCACCCCATCACCCCCACA CTACCCACCCCCATCACCCTCACTACCCACCCCATCACCCCCACACTACC CACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCAC CCCCATCAGCCCCACTACCCACCCCCATCACCCTCACTACCCACCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAGC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCT CACTACCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCA CCCCATCACCCGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCAT CACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACC CCCACGCCGCCCAACCCATCACCCCCACGCCGCCCACCCCCATCACCCCC ACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACG CCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	334	0.0030	1634	c.147 others(1651): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCA CCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCC CCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCA TCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACGACCCACCCCCATCACCCC CACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTA CCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCC ACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCATCCCCATCACCCC CACACGACCCACCCCATCACCCCACACGACCCACCCCCATCACCCTCACT ACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACC CACCCCCATCACCCCACACGACCCACCCCTATCACCCCACACTACCCACC CCCATCACCCCACACTACCCATCCCCATCACCCCCACACGACCCACCCCA TCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACC CTCACTACCCACCCCATCACCCCACACTACCCACCCCATCACCCCCACAC TACCCACCCCCATCACCCTCACTACCCACCCCATCACCCCCACACTACCC ACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACC CCCATCAGCCCCACTACCCACCCCCATCACCCTCACTACCCACCCCATCA CCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAGCC CCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCTC ACTACCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCAC CCCATCACCCGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATC ACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCC CCACGCCGCCCAACCCATCACCCCCACGCCGCCCACCCCCATCACCCCCA CGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGC CGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTACC CACCCC		ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPM_chr22_41933737_41952152	41939826	G G	GAAAAAGA others(1627): Show GAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAAAGAAAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAGAAA GAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAA AAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAA GAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGGAAGAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0191 a0001c0002t0004g0191	1	258	0.0039	1634	c.403 others(1649): Show c.403-631_403-630insTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTCCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTCT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTTTCTTTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTT		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5						chr22	TogoVar
DYM_chr18_49031387_49465645	49203061	G G	GCCCCCCG others(1627): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCACCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTTGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCTG TCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCGCCCCGTC TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGAA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCCGGAAGGAGGTGGGGGGGTCA GCCCCGCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGTCCGGCCAGCCGCTCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCCGGCCAGCCGCCCCGACTGGGAGGTGAGGGGCGCCTCTGCC CAGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCGGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG GTCAGCCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01256.hp1 HG01358.hp2 others(8): Show HG01071.hp1 HG01256.hp1 HG01358.hp2 HG01516.hp1 HG01943.hp2 HG02451.hp1 HG02723.hp1 HG02922.hp2 HG03041.hp2 HG03669.hp2 HG03704.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0005 a0001c0001t0028 a0001c0001t0029 others(1): Show a0001c0001t0005 a0001c0001t0028 a0001c0001t0029 a0005c0008t0005	a0001c0001t0005g0121 a0001c0001t0005g0250 a0001c0001t0005g0251 others(8): Show a0001c0001t0005g0121 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0262 a0001c0001t0005g0266 a0001c0001t0005g0268 a0001c0001t0028g0270 a0001c0001t0029g0260 a0005c0008t0005g0263	11	290	0.0379	1634	c.162 others(1653): Show c.1625+6489_1625+6490insGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC CGGGGGCCGACCCCCCCACCTCCCTCCCGGAAGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCAGTCGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGCCGACACCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGCGGGGCTGACCCCCCCACCTCCTTCCGGGACGGGGCGGCTGGCCGGG CAGAGGGGCTTCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGTTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTC CCTCCCGGACAGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGCACGGCTGGCC AGGCGGTGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCG GGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGG		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17						chr18	TogoVar
EVC_chr4_5706201_5819305	5706329	G G	GATAGATA others(1627): Show GATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGA TACATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATACATAGATACATAGATAGATAGATAGA TAGACAGATAGATAGATAGATAGATAGAGATAGATAGATACATAGATAGA TAGATACATACATAGATAGATACATAGATAGATAGATAGATACATAGATA GATAGATAGATACATAGATACATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGA TAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGA TAGATACATAGATAGATAGATAGATACATACATACATAGATAGATAGATA CATACATAGATAGATAGATACATACATACATACATAGATAGATACATACA TAGATAGACAGATACATAGATAGATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATACATAGATAGATAGATACATAGATA GATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TAGATACATAGATAGATAGATACATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATAGA AACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAAATAGA TAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATA CATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATACATAGATACATAGATACATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATAGATAGATAGATAGATAGATAGATACATAGA TAGAGAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATACATAGATACATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATACATACATACATAGATACATAGATACATAGATA GATAGATACATAGATAGATACATACATAGATAGATAGATACATAGATAGA TACATACATACATAGATAGATAGATACATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAGATAGATACATAGATAGATAGATACATACATACATAGATAGATACATA CATAGATAGATAGATACATACATACATACATAGATAGATACATACATAGA TAGATAGATACATAGATAGATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0361 a0004c0006t0008g0361	1	369	0.0027	1634	c.-50 others(1645): Show c.-5052_-5051insATAGATACATAGATAGATAGATAGATAGATAGAT ACATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAG ATAGATAGATAGATAGATACATAGATAGATAGATAGATACATAGATACAT AGATAGATAGATAGATAGACAGATAGATAGATAGATAGATAGAGATAGAT AGATACATAGATAGATAGATACATACATAGATAGATACATAGATAGATAG ATAGATACATAGATAGATAGATAGATACATAGATACATAGATACATACAT ACATAGATAGATACATAGACAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGAT AGATACATACACAGATAGATACATAGATAGATACATAGATAGATACATAG ATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATACATAGATAGATACATAGATAGATAGATAGATACATACATAC ATAGATAGATAGATACATACATAGATAGATAGATACATACATACATACAT AGATAGATACATACATAGATAGACAGATACATAGATAGATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGAT AGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAG ATAGATACATAGATAGATAGATAGATAGATACATAGATAGATAGATAGAT ACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGAT AGATAGATAGATAGAAACATAGATAGATAGATAGATAGATAGATACATAG ATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGAT AGATACATAAATAGATAGATAGATAGATAGATAGATACATAGATACATAG ATAGATAGATACATACATAGATAGATAGATACATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATACATAGATACATAGATACATAGATAG ATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGAT AGATAGATACATAGATAGAGAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGATAGATAGATACATAGATACATAGATAGAT ACATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATAC ATAGATACATAGATAGATAGATACATAGATAGATACATACATAGATAGAT AGATACATAGATAGATACATACATACATAGATAGATAGATACATAGATAC ATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATACATAGATAGATACATAGATAGATAGATACATACATAC ATAGATAGATACATACATAGATAGATAGATACATACATACATACATAGAT AGATACATACATAGATAGATAGATACATAGATAGATAGATAGATAGATAC		EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding					4871		chr4	TogoVar
IFNAR1_chr21_33319970_33364864	33322237	T T	TATATATG others(1627): Show TATATATGGAATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATACATATATGGAATATATATATGCAATATATATATATGGA ATATATATGCAATATATATATGGAATACATATATGCAATATATATATGGA ATACATATATGCAATATATATAGAATATATATATGGAATATATATACGGA ATATATATATGGAATATATATACGGAATATATATACGGAATATATATACG GAATATATATACGGAATATATATACGGAATATATATGGAATATATATACG GAATATATATACGGAATATATATACGGAATATATATACGGAATATATATA CGGAATATATATATGGAATATATATACGGAATATATATATACGGAATATA TATATAATATATATACGGAATATATATATACGGAATATATATATAATATA TATACGGAATATATATATACGGAATATATATATAATATATATACGGAATA TATATATAATATATATACGGAATATATATATACGGAATATATATATAATA TATATATGGAATATATATATACGGAATATATATATAATATATATATGGAA TATATATATACGGAATATATATATAATATATATATGGAATATATATATAC GGAATATATATATAATATATATATGGAATATATATATACGGAATATATAT ATAATATATATATGGAATATATACGGAATATATATATAATATATATGGAA TATATATATACGGAATATATATAATATATATACGGAATATATATATACGG AATATATATAATATATATACGGAATATATATATAATATATATATAATATA TATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATA TATATAATATATAAATGGAATATATATATACGGAATATATATATAATATA TAAATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATATACGGAATATATATATAATATATATATGGAATATATATATACGG AATATATATATAATATATATATGGAATATATATATACGGAATATATATAT TATATATATGGAATATATATATACGGAATATATATATAATATATATATGG AATATATATACGGAATATATATATATGGATATATATACGGAATATATATA TATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGG AATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATAT ATATATGGAATGTGTATATATGGAATATATATATGGAATGTATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	1634	c.-28 others(1645): Show c.-2819_-2818insATATATGGAATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATACATATATGGAATATATATATGCA ATATATATATATGGAATATATATGCAATATATATATGGAATACATATATG CAATATATATATGGAATACATATATGCAATATATATAGAATATATATATG GAATATATATACGGAATATATATATGGAATATATATACGGAATATATATA CGGAATATATATACGGAATATATATACGGAATATATATACGGAATATATA TGGAATATATATACGGAATATATATACGGAATATATATACGGAATATATA TACGGAATATATATACGGAATATATATATGGAATATATATACGGAATATA TATATACGGAATATATATATAATATATATACGGAATATATATATACGGAA TATATATATAATATATATACGGAATATATATATACGGAATATATATATAA TATATATACGGAATATATATATAATATATATACGGAATATATATATACGG AATATATATATAATATATATATGGAATATATATATACGGAATATATATAT AATATATATATGGAATATATATATACGGAATATATATATAATATATATAT GGAATATATATATACGGAATATATATATAATATATATATGGAATATATAT ATACGGAATATATATATAATATATATATGGAATATATACGGAATATATAT ATAATATATATGGAATATATATATACGGAATATATATAATATATATACGG AATATATATATACGGAATATATATAATATATATACGGAATATATATATAA TATATATATAATATATATACGGAATATATATATAATATATAAATGGAATA TATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAA TATATATATAATATATAAATGGAATATATATATACGGAATATATATATAA TATATATATGGAATATATATATACGGAATATATATATAATATATATATGG AATATATATATACGGAATATATATATAATATATATATGGAATATATATAT ACGGAATATATATATTATATATATGGAATATATATATACGGAATATATAT ATAATATATATATGGAATATATATACGGAATATATATATATGGATATATA TACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGG AATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGT GTATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATG GAATGTATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATATATGGAATATATATATGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2732		chr21	TogoVar
KIF3B_chr20_32272651_32340011	32322961	C C	CACATATT others(1627): Show CACATATTTATATATACATATTTATATATACATATTTATACATATTTATA TATACATATTTATATACATTTATATACATATTTATATATACATTTATATA TACATTTATATATACATATTTATATATATTTATATATATTTATAGATATA TATTTATTTATATTTATATTTATATATATATTTATTTATATTTATATATA TTTTTATATATTTATTTATATTTATATTTATATTTATATTTATTTATATT TATTTATATTTATATATATTTATATATATTTATATATTTATATATATTTA TATATATTTATATATTTATATATATTTATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATTTATATATTTATATATA TTTATATATATTTATATATATATTTATATATTTATATATATTTATATATA TTTATATATATATTTATATATTTATATATATTTATATATATTTATATATA TATTTATATATTTATATATATTTATATTTATATATTTATATATATTTATA TTTCTATTTATTTATATATATTTATATTTATTTATATTTATATATTAATA TATATATATTTATATTTATATATATTTATATTTATATATTAATATATATA TATTTATATTAATATATATATATTAATATATATATATTTATATTAATATA TATATTTATATTTATATATATATTTATATTTATATATATTTATATTTATA TATATTTATATACATATATTTATATATATATTTATATATATTTATATACA TATATTTATATATATATTTATATATATTTATATACATATATTTATATATA TATTTATATATATTTATATACATATATTTATATATATATTTATATATATA TTTATATACATATATTTATATATATATTTATATATATATTTATATACATA TATTTATATATATTTATATATATATTTATATATATATTTATATACATATA TTTATATATATATTTATATATATATTTATATACATATATTTATATATATT TATATATATTTATATACATATATTTATATATATTTATATATATTTATATA CATATATTTATATATATTTATATATATTTATATACATATATTTATATATA TTTATATATATTTATATACATATATTTATATATATATTTATATATATTTA TATACATATATTTATATATATTTATATATATTTATATACATATATTTATA TATATTTATATACATATATTTATACATATATTTATATACATATATTTATA TATATATTTATATACATATATTTATACATATATTTATATATATATTTATA TACATATATTTATATATATATTTATATATATATTTATATACATATATTTA TATATATATTTATATATATATTTATATACATATATTTATATATATATTTA TATACATATATTTATATATTTATATATATTTATATATATTCATATTTATA TTTATATATATTTATATATATATATTTATATATATATTTATATTTAATTA TATTTATATATATTTATATATATATTTATATTTGTATATATTTATATATA TGTATATTTATATATATTTATATATTTATATATTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	242	0.0041	1634	c.174 others(1653): Show c.1749-3809_1749-3808insCATATTTATATATACATATTTATATA TACATATTTATACATATTTATATATACATATTTATATACATTTATATACA TATTTATATATACATTTATATATACATTTATATATACATATTTATATATA TTTATATATATTTATAGATATATATTTATTTATATTTATATTTATATATA TATTTATTTATATTTATATATATTTTTATATATTTATTTATATTTATATT TATATTTATATTTATTTATATTTATTTATATTTATATATATTTATATATA TTTATATATTTATATATATTTATATATATTTATATATTTATATATATTTA TATATTTATATATATTTATATATATTTATATATATTTATATATATTTATA TATATTTATATATTTATATATATTTATATATATTTATATATATATTTATA TATTTATATATATTTATATATATTTATATATATATTTATATATTTATATA TATTTATATATATTTATATATATATTTATATATTTATATATATTTATATT TATATATTTATATATATTTATATTTCTATTTATTTATATATATTTATATT TATTTATATTTATATATTAATATATATATATTTATATTTATATATATTTA TATTTATATATTAATATATATATATTTATATTAATATATATATATTAATA TATATATATTTATATTAATATATATATTTATATTTATATATATATTTATA TTTATATATATTTATATTTATATATATTTATATACATATATTTATATATA TATTTATATATATTTATATACATATATTTATATATATATTTATATATATT TATATACATATATTTATATATATATTTATATATATTTATATACATATATT TATATATATATTTATATATATATTTATATACATATATTTATATATATATT TATATATATATTTATATACATATATTTATATATATTTATATATATATTTA TATATATATTTATATACATATATTTATATATATATTTATATATATATTTA TATACATATATTTATATATATTTATATATATTTATATACATATATTTATA TATATTTATATATATTTATATACATATATTTATATATATTTATATATATT TATATACATATATTTATATATATTTATATATATTTATATACATATATTTA TATATATATTTATATATATTTATATACATATATTTATATATATTTATATA TATTTATATACATATATTTATATATATTTATATACATATATTTATACATA TATTTATATACATATATTTATATATATATTTATATACATATATTTATACA TATATTTATATATATATTTATATACATATATTTATATATATATTTATATA TATATTTATATACATATATTTATATATATATTTATATATATATTTATATA CATATATTTATATATATATTTATATACATATATTTATATATTTATATATA TTTATATATATTCATATTTATATTTATATATATTTATATATATATATTTA TATATATATTTATATTTAATTATATTTATATATATTTATATATATATTTA TATTTGTATATATTTATATATATGTATATTTATATATATTTATATATTTA TATATTTA		KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr20	TogoVar

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