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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SVOPL_chr7_138589285_138706362	138611875	G G	GCCACCCC others(1615): Show GCCACCCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTT CCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCAGCC CATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGAT GTGAGGAGCGCCTCTGCCCGGCGGAGACCCCGTCTGGGAGGTGAGGAGCG TCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCA ACCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGT CTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTG AGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG TCAGCCCCCCGGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCGCCCCGCCCGGCCAGC CGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCTGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGAGGGTGTCAGCCCCACGCCCGGCCA GCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAG TGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTTGGAGGGAGGTG GGGGGGGTCAGCCCCCCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0120 a0007c0030t0001g0120	1	360	0.0028	1622	c.135 others(1641): Show c.1353+9170_1353+9171insTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGGGGGGCTGACCCCCCCCAC CTCCCTCCAAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTG GCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGG CCGGGCGTGGGGCTGACACCCTCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGCT GGCCGGGCGGGGCGCTGACCCCCCCCACCTCCCTCCTGGATGGGGCGGCT GGCCAGGTGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCCGGGGGGCTGACCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCAC TTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACG GGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGC CAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGC TCCTCACCTCCCAGACGGGGTCTCCGCCGGGCAGAGGCGCTCCTCACATC CCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGC TGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAG AGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCT CACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACG ATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGGTGG	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138611875	G G	GCCACCCC others(1615): Show GCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTC TGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGA GCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTC CCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCAGCCC ATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATG TGAGGAGCGCCTCTGCCCGGCGGAGACCCCGTCTGGGAGGTGAGGAGCGT CTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAA CCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTC TGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGA GGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGT CAGCCCCCCGGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCGCCCCGCCCGGCCAGC CGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCTGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGAGGGTGTCAGCCCCACGCCCGGCCA GCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAG TGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTTGGAGGGAGGTG GGGGGGGTCAGCCCCCCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	360	0.0028	1622	c.135 others(1641): Show c.1353+9170_1353+9171insTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGGGGGGCTGACCCCCCCCAC CTCCCTCCAAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTG GCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGG CCGGGCGTGGGGCTGACACCCTCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGCT GGCCGGGCGGGGCGCTGACCCCCCCCACCTCCCTCCTGGATGGGGCGGCT GGCCAGGTGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCCGGGGGGCTGACC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCA CTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGAC GGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTG CCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACG CTCCTCACCTCCCAGACGGGGTCTCCGCCGGGCAGAGGCGCTCCTCACAT CCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGG CTGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAA GAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCC TCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGAC GATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGG	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138611875	G G	GCCACCCC others(1615): Show GCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTC TGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGA GCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTC CCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCAGCCC ATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATG TGAGGAGCGCCTCTGCCCGGCGGAGACCCCGTCTGGGAGGTGAGGAGCGT CTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAA CCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTC TGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGA GGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGT CAGCCCCCCGGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCA CCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCGCCCCGCCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCTGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGAGGGTGTCAGCCCCACGCCCGGCCA GCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAG TGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTTGGAGGGAGGTG GGGGGGGTCAGCCCCCCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0288 a0002c0003t0001g0288	1	360	0.0028	1622	c.135 others(1641): Show c.1353+9170_1353+9171insTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGGGGGGCTGACCCCCCCCAC CTCCCTCCAAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTG GCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGG CCGGGCGTGGGGCTGACACCCTCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGGGCGCTGACCCCCCCCACCTCCCTCCTGGATGGGGCGGCT GGCCAGGTGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCCGGGGGGCTGACC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCA CTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGAC GGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTG CCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACG CTCCTCACCTCCCAGACGGGGTCTCCGCCGGGCAGAGGCGCTCCTCACAT CCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGG CTGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAA GAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCC TCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGAC GATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGG	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138611875	G G	GCCACCCC others(1615): Show GCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTC TGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGA GCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTC CCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCAGCCC ATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATG TGAGGAGCGCCTCTGCCCGGCGGAGACCCCGTCTGGGAGGTGAGGAGCGT CTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAA CCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTC TGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGA GGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGT CAGCCCCCCGGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCA CCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGCC GCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCGCCCCGCCCGGCCAGCC GCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGG GGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCTGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCTGTCCGGGAGGGAGGTGAGGGTGTCAGCCCCACGCCCGGCCAG CCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAGT GGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTTGGAGGGAGGTGG GGGGGGTCAGCCCCCCCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	360	0.0028	1622	c.135 others(1641): Show c.1353+9170_1353+9171insTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGGGGGGGCTGACCCCCCCCA CCTCCCTCCAAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACT GGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTG GCCGGGCGTGGGGCTGACACCCTCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGGCTGACCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCC ACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGC TGGCCGGGCGGGGCGCTGACCCCCCCCACCTCCCTCCTGGATGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCCGGGGGGCTGACC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCA CTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGAC GGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTG CCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACG CTCCTCACCTCCCAGACGGGGTCTCCGCCGGGCAGAGGCGCTCCTCACAT CCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGG CTGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAA GAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCC TCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGAC GATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGG	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15			chr7	TogoVar
UCKL1_chr20_63934829_63961416	63948608	A A	AGAGGGAG others(1615): Show AGAGGGAGGGGCGTGTGTGAGGGAGGGGTGTGTGTGAGAGGGAGGGGCGT GTGTGAGAGGGAGGGGGCGTGTGTGAAAGGGAGGGGCGTGTGTGAGGGAG GGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTG AGACGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCG TGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAG GGAGAGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTG AGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGG CGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGAGAGGGA GGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGTGGGGGCGTGTGTGAGAGTTAGGGGCGTGAGAGGTAGGGGCGTGT GTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGAGAGGGAGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGT GTGAGAGGCAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGG GCGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGAGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGGGAGGGGCGTGTGT GAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGA GGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGA GGGAGAGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGAGGCGT GTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAG GGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGAGGCGTGTGTG AGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGC GTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAG GGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTG TGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGCGTGTGTGAGAGTGGGG GCGTGTGTGAGTTAGGGGCGTGAGAGGTAGGGGCGTGTGTGAGAGGGAGG GGCGTGTGTGAGAGGGAGGGGGCGTGAGAGGGAGGGGCGTGTGTGAGAGG GAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGGCGTG TGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGCAG GGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGAGAG GGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGAGAGGGAGGGGCGTGTGT GAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGG CGTGAGAGGGAGGGGGCGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	356	0.0028	1622	c.114 others(1639): Show c.114-1966_114-1965insACACACGCCCCCTCCCTCTCACGCCCCT CCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACA CGCCCCTCCCTCTCACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTC ACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTGCC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGC CCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCT CACACACGCCCCTCCCTCTCACGCCCCCTCCCTCTCACACACGCCCCTCC CTCTCACACACGCCCCTACCTCTCACGCCCCTAACTCACACACGCCCCCA CTCTCACACACGCCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGC CCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTC ACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCC TCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACAC ACGCCTCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCC TCTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTCTCACACACGCC TCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCTCTCCCTCTCA CACACGCCCCCTCCCTCACACACGCCCCTCCCTCTCACACACGCCTCTCC CTCTCACACACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACA CGCCCCTCCCTCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTC ACACACGCCTCTCCCTCTCACACACGCCCCCTCCCTCTCACACGCCCCCT CCCTCTCACACACGCCCCTCCCTCACACACGCCCCTGCCTCTCACACACG CCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTC ACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCC TCCCTCTCACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACG CCCCTACCTCTCACGCCCCTAACTCTCACACACGCCCCCACTCTCACACA CGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCT CTCACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCT CCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACAC GCCCCCTCCCTCACACACGCCCCTCCCTCTCACACACGCCTCTCCCTCTC ACACACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCGTCTCACAC ACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCC TCACACACGCCCCTCCCTTTCACACACGCCCCCTCCCTCTCACACACGCC CCTCCCTCTCACACACACCCCTCCCTCACACACGCCCCTCCCTC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
ZFP41_chr8_143241939_143267705	143243370	A A	AGGAGGAG others(1615): Show AGGAGGAGGAGGCGAAAGGAGGGGAGGAGGAAGAGAAGAGGAGGGGAAGA GGAGGAGGGGAAGGGGGAGGGGAAGGAGGGGGAGGGGAGGTGGAGAAGGG GAAAGGAGGAGGGAGGGAATGAGGGAGAGGAGGGAGGAGGGGAGGAGTGG GAGAGAAGGGGAAGGGGGAGGAGGGAAAAGGGGAGGAGGAGGTGATGAAA AAGGGGGAGGAGGAGGGAAAGGGAGGAGGAGGAGGGGAAAGGGGGGAGAG AGGGAGGGGGAGGGAGGAGGGGAGGGGAGGGGGAAGGGGAGGAGGGGAGG AGGGTCAAGGAGAAGGGGGAGGAGGAGGAGCGAAGCAAGGGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGGACGAGGAGAGGAGAGGAGGGAAGGGGGAG GAGGAGGAATGGGAGGGGGAGGAGCGGGAGGGGGAGGAGGCGAGGGGGGA GGGGAGTGGGGGAGAGGAGGGGGAGGGGAGGTGAGGGGGGAGGTGGAGTG GGAGAGGTGGAGGAGTGAGGTGAGGGGTGGGAGGAGGGGGAGGCGTAGAA GGTCCAGCCCACAGGGTCAGTGGGTTTCTCCCCCTGTGCGGAGACAAGAG AGCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAAACCGCTGT GCCTGGGGGACCACTACCACCAGACCCGAGAGACCGGTAGTGGCCCCGAA TGCCAGGCTGCACTGATATTTATTGGATACAAGACAAAGGGGCAGGATAA GGAGAGTGAGCCATCTCCAATGATAGGTAAGGCCACGTGGGTCATGTGTC CATCTGGACAGGTGGCCCTTCCCTGCCTGGCAGCCGAGGCAGAGAGAGAG AGGAGAGAGAGAGAGAGAGAGAGACAGCTTATGCCATTATTCTGCTGTAT TAGAGACTTTATAATACTTTCACTAATTGACTACTGCTATCTAGAAGGCA GAGCCAGGTGTACAGGATGGAACATGAAGAGCAGACTAGGAGCATGACCA CTGAAGCACAGCATCACAGGGAGATGGTTAGGCCTCAGATAACTGCGGGC GAGCCTGACTAATGTCAGGCCCTCCACAAGAGGTGGAGGAGTAGAATCTT CTCTAAACTCCCCTGGGGAAAGGGAGACTTTCCTTTCCACGGTCTGCTAA GTAGCGGGTGTTCTTCACTTGACACTTACGCTACCGCTAGACCACAGTCC GCCTGGCAACGGGCATCTTCCCAGATGCTGGCGTTACCGCTAGACCAAGG AGCCCTCTGGTGGCCCTGTCCAGGCATAACAGAAGGCTCGCACTCTTGTC TTCTGGTCACTCCTCACTATGTCCCCTCAGCTCCTATCTCTGTATGGCCT GGTTTTTCCTAGGCTATGATTATAGAGTGAGGATTACTATAATATTGGAA TAAAGAGTAATTGCTACCAACTGATGAATAATGAATATTCATATATAATC ATATCTAAGATCTATATCTGGTATAACTATTCTTGTCTTGTATATTATTA CACTGGAACAGCTCGTGTCCTCGGTCTACTTGCCTTGGCACCTGGGTGGC TTGCCGCCACAGGGAGGAGGGGGAGGGGGGAGGGAGGCTGGGGGAGAGGG AGGGGAGGGGAGAGGGTGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	316	0.0032	1622	c.-39 others(1633): Show c.-3927_-3926insGGAGGAGGAGGCGAAAGGAGGGGAGGAGGAAGAG AAGAGGAGGGGAAGAGGAGGAGGGGAAGGGGGAGGGGAAGGAGGGGGAGG GGAGGTGGAGAAGGGGAAAGGAGGAGGGAGGGAATGAGGGAGAGGAGGGA GGAGGGGAGGAGTGGGAGAGAAGGGGAAGGGGGAGGAGGGAAAAGGGGAG GAGGAGGTGATGAAAAAGGGGGAGGAGGAGGGAAAGGGAGGAGGAGGAGG GGAAAGGGGGGAGAGAGGGAGGGGGAGGGAGGAGGGGAGGGGAGGGGGAA GGGGAGGAGGGGAGGAGGGTCAAGGAGAAGGGGGAGGAGGAGGAGCGAAG CAAGGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGACGAGGAGAGGAGA GGAGGGAAGGGGGAGGAGGAGGAATGGGAGGGGGAGGAGCGGGAGGGGGA GGAGGCGAGGGGGGAGGGGAGTGGGGGAGAGGAGGGGGAGGGGAGGTGAG GGGGGAGGTGGAGTGGGAGAGGTGGAGGAGTGAGGTGAGGGGTGGGAGGA GGGGGAGGCGTAGAAGGTCCAGCCCACAGGGTCAGTGGGTTTCTCCCCCT GTGCGGAGACAAGAGAGCATAGAAATAAAGACACAAGACAAAGAGATAAA AGAAAAAACCGCTGTGCCTGGGGGACCACTACCACCAGACCCGAGAGACC GGTAGTGGCCCCGAATGCCAGGCTGCACTGATATTTATTGGATACAAGAC AAAGGGGCAGGATAAGGAGAGTGAGCCATCTCCAATGATAGGTAAGGCCA CGTGGGTCATGTGTCCATCTGGACAGGTGGCCCTTCCCTGCCTGGCAGCC GAGGCAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGACAGCTTATGCC ATTATTCTGCTGTATTAGAGACTTTATAATACTTTCACTAATTGACTACT GCTATCTAGAAGGCAGAGCCAGGTGTACAGGATGGAACATGAAGAGCAGA CTAGGAGCATGACCACTGAAGCACAGCATCACAGGGAGATGGTTAGGCCT CAGATAACTGCGGGCGAGCCTGACTAATGTCAGGCCCTCCACAAGAGGTG GAGGAGTAGAATCTTCTCTAAACTCCCCTGGGGAAAGGGAGACTTTCCTT TCCACGGTCTGCTAAGTAGCGGGTGTTCTTCACTTGACACTTACGCTACC GCTAGACCACAGTCCGCCTGGCAACGGGCATCTTCCCAGATGCTGGCGTT ACCGCTAGACCAAGGAGCCCTCTGGTGGCCCTGTCCAGGCATAACAGAAG GCTCGCACTCTTGTCTTCTGGTCACTCCTCACTATGTCCCCTCAGCTCCT ATCTCTGTATGGCCTGGTTTTTCCTAGGCTATGATTATAGAGTGAGGATT ACTATAATATTGGAATAAAGAGTAATTGCTACCAACTGATGAATAATGAA TATTCATATATAATCATATCTAAGATCTATATCTGGTATAACTATTCTTG TCTTGTATATTATTACACTGGAACAGCTCGTGTCCTCGGTCTACTTGCCT TGGCACCTGGGTGGCTTGCCGCCACAGGGAGGAGGGGGAGGGGGGAGGGA GGCTGGGGGAGAGGGAGGGGAGGGGAGAGGGTGGAGGG	ZFP41	ENSG00000181638.20	transcript	ENST00000330701.7	protein_coding		3568		chr8	TogoVar
C7orf50_chr7_992006_1143247	1070458	A A	AGCCACCC others(1616): Show AGCCACCCCGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AGCCGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGCCCCGTCCGGGAGGGAGGTTGGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCATCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGG TGTGCCCAACAGCTCATTGAGAACGGGCCAGAATGACAATGGCGGCTTTG TGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGT TGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTT CTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCT TACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTT AAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAA GGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCA GGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCA GAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCC CATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAAT AAAAAAATAAATTAAAAAAAAAAAAAAGATAACACAGTAGAAAAAAAAAA AAAAACAATAAATAAAGTCTCACGTTCGTTCTTCTCCAGGTCTCTCAGTC CATTCTTTGGGTTTGGACGGGTGAGTTTGTTTCTCACATCAGCACAGGGG AGAGCCCAGTCCCCAGGTGCAGTTCCCTGCACACACATGCACATGCACAC ACGTGTGCACAGGGCACGTGTACACATGGGCACACGCACGCACGCGCACA CACATGCACGCACATACGCACACCGCACGCACACGGACACCTGCACACGC GCACACGCATGCATGCACATACGCACACAACGCGTGCACAAGGACACAGG CACACACATGCACACACGTGCACACATGCACGCACATACGGACACAATGC ATGCACACGGACACACATGCACACACACGGACACATGCACACACATGCAT GCACATACACGCGTGCACAGACGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0121 a0001c0001t0010g0121	1	326	0.0031	1623	c.129 others(1642): Show c.129+56798_129+56799insGCGTCTGTGCACGCGTGTATGTGCAT GCATGTGTGTGCATGTGTCCGTGTGTGTGCATGTGTGTCCGTGTGCATGC ATTGTGTCCGTATGTGCGTGCATGTGTGCACGTGTGTGCATGTGTGTGCC TGTGTCCTTGTGCACGCGTTGTGTGCGTATGTGCATGCATGCGTGTGCGC GTGTGCAGGTGTCCGTGTGCGTGCGGTGTGCGTATGTGCGTGCATGTGTG TGCGCGTGCGTGCGTGTGCCCATGTGTACACGTGCCCTGTGCACACGTGT GTGCATGTGCATGTGTGTGCAGGGAACTGCACCTGGGGACTGGGCTCTCC CCTGTGCTGATGTGAGAAACAAACTCACCCGTCCAAACCCAAAGAATGGA CTGAGAGACCTGGAGAAGAACGAACGTGAGACTTTATTTATTGTTTTTTT TTTTTTTTCTACTGTGTTATCTTTTTTTTTTTTTTAATTTATTTTTTTAT TGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGG ACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTG GTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTG ATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTT CAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAA CCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAG GTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAA CAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAAC CATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACA AAGCCGCCATTGTCATTCTGGCCCGTTCTCAATGAGCTGTTGGGCACACC TCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGATGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCC CAACCTCCCTCCCGGACGGGGCGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGGCTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1070458	A A	AGCCACCC others(1616): Show AGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AGCCGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGCCCCGTCCGGGAGGGAGGTTGGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCATCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGT GTGCCCAACAGCTCATTGAGAACGGGCCAGAATGACAATGGCGGCTTTGT GGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTT GCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTC TGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTT ACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTA AATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAG GGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAG AGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCC ATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATA AAAAAATAAATTAAAAAAAAAAAAAAGATAACACAGTAGAAAAAAAAAAA AAAAACAATAAATAAAGTCTCACGTTCGTTCTTCTCCAGGTCTCTCAGTC CATTCTTTGGGTTTGGACGGGTGAGTTTGTTTCTCACATCAGCACAGGGG AGAGCCCAGTCCCCAGGTGCAGTTCCCTGCACACACATGCACATGCACAC ACGTGTGCACAGGGCACGTGTACACATGGGCACACGCACGCACGCGCACA CACATGCACGCACATACGCACACCGCACGCACACGGACACCTGCACACGC GCACACGCATGCATGCACATACGCACACAACGCGTGCACAAGGACACAGG CACACACATGCACACACGTGCACACATGCACGCACATACGGACACAATGC ATGCACACGGACACACATGCACACACACGGACACATGCACACACATGCAT GCACATACACGCGTGCACAGACGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0123 a0001c0001t0010g0123	1	326	0.0031	1623	c.129 others(1642): Show c.129+56798_129+56799insGCGTCTGTGCACGCGTGTATGTGCAT GCATGTGTGTGCATGTGTCCGTGTGTGTGCATGTGTGTCCGTGTGCATGC ATTGTGTCCGTATGTGCGTGCATGTGTGCACGTGTGTGCATGTGTGTGCC TGTGTCCTTGTGCACGCGTTGTGTGCGTATGTGCATGCATGCGTGTGCGC GTGTGCAGGTGTCCGTGTGCGTGCGGTGTGCGTATGTGCGTGCATGTGTG TGCGCGTGCGTGCGTGTGCCCATGTGTACACGTGCCCTGTGCACACGTGT GTGCATGTGCATGTGTGTGCAGGGAACTGCACCTGGGGACTGGGCTCTCC CCTGTGCTGATGTGAGAAACAAACTCACCCGTCCAAACCCAAAGAATGGA CTGAGAGACCTGGAGAAGAACGAACGTGAGACTTTATTTATTGTTTTTTT TTTTTTTTTCTACTGTGTTATCTTTTTTTTTTTTTTAATTTATTTTTTTA TTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGG GACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCT GGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCT GATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCT TCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTA ACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAA GGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGA ACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAA CCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCAC AAAGCCGCCATTGTCATTCTGGCCCGTTCTCAATGAGCTGTTGGGCACAC CTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGATGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCC CAACCTCCCTCCCGGACGGGGCGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAMTA1_chr1_6780454_7774706	7520219	C C	CCTCCTCC others(1616): Show CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCTCCTCCCTCCTC CTCCTCCTCCCCTCCTCCCTCCTCCTCCTCCCCTTCCCTCCTCCTCCTCC CCTCCTCCCTCCTCCTCCCCTCCTCCCTCCACTTCCTCCCCTCCTCCCTC CTCCCCCTCCTCCTCCTTCTCCTCCCCCTCCTCCTCTTCCTCCTCCCTCC ACTTCCTCCCCTCCTCCCTCCTCCCCCTCCTCCTCTTCCTCCTCCCCCTC CTCCTCTTCCCCCTCCTCCTCTTCCCCCTCCTCCTCCCTCCTCCTCTCCC CCCTCCTCCTCCCCCTCCCTCCCCCTCCTCCTCTTCCTCCTCCCCCTCCT CCTCTTCCTCCTCCCCCTCCTCCTCTTCCCCCTCCTCCTCTCCCCTCCTC CTCCTCCTCCCTTCTCCTCCTCCTCCTCCCTTCTCCTCCTCCCCCCTCCT CCTCTCCCTCCCCCTCCACCTCCCCCTCCACCTCCCCCTCCTCCCCTCCT CCCCCCTCCTCTCTCCTCCTCCTCCCTCCTCCTCTCCCCTCCTCCCCTCC TCCTCCTTCTCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTCCCTC CCCTCCTCCTCTTCCTCCTCCCCCTCCTCCTCTTCCTTCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCCC TCCTCCCTCTTCCCCCTCCTCCTCCTCCCCCTCCTCTCCCTCCCTTCCTC CTCTTCCTCCTCCCCCTCCTCCTCTTCCTCCTTCCCCTCCTCCTATTCCC CCTCCTCCTCTTCCCCCCTCCTCCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCTCCCCCTCCTCCTC TCCCTCCCCCTCCTCCTCCTCTCCCCTCCTCCTCCCTCCTCCTCTCCCCT CCTCTCCCCTCCTCTCCCCTCCTCCTCCTCCTCTCTCCTCCTCCTCCCCT CCTCCCTCCTCCTCCTCCCCTCCTCCCTCTTCTTCCTCCCCTCCTCCCTC CTCTTCCTCCCCTCCTCCCTCCTCCCCCTCCTCCTTCTCCTTCTCCTCCT CTTCCCCCTCCTGCCTCCTCCCCCCTCCTCCTCCCCCTCCCCCTCCTCCT CCACCTCCCCCTCCTCCCCCTCCCCCTCTCCCCCTCCTCTCCCCCTCCTC TCCCCCTCCTCCCCTCCTCCCTCCTCCTGCCTCCTCCTCTCTCCTCCTCC TCCCTCCTCCTCTCCCCTCCTCCCCTCCTCCCTCCTCCCCCCTCCTCCTC CTTCTCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTCCCTCCCCTC CTCCTCTTCCTTCTCCCCCTCCTCCTCTTCCCTCTCCTCCTCTTTCCCCT CCTCCCTCCTCCTCCCCCTCCTTCTCCCCCTCCTCCTCTTCCCCCTCCTC CTCTTCCCCCTCCTCCTCTTTCCCCTCCTCCCTCCTCCGCCCTCCTCCTC CCCCTCCCTCTCCTCCTCCGCCTCCCCTTCCTCCTCCCTCTCCCCCTCCT CCTCTCCCTCCCCCTCCTCACCTCCTCCCTCCTCCCCCTCCTCCTCCCCC TCCCCCTCCTCCTCCTCCTCTCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0016 a0009c0011t0016	a0009c0011t0016g0029 a0009c0011t0016g0029	1	58	0.0172	1623	c.510 others(1642): Show c.510+52328_510+52329insTCCTCCTCCTCCCTCCTCCTCCTCCC CTCCTCCCTCCTCCTCCTCCTCCCCTCCTCCCTCCTCCTCCTCCCCTTCC CTCCTCCTCCTCCCCTCCTCCCTCCTCCTCCCCTCCTCCCTCCACTTCCT CCCCTCCTCCCTCCTCCCCCTCCTCCTCCTTCTCCTCCCCCTCCTCCTCT TCCTCCTCCCTCCACTTCCTCCCCTCCTCCCTCCTCCCCCTCCTCCTCTT CCTCCTCCCCCTCCTCCTCTTCCCCCTCCTCCTCTTCCCCCTCCTCCTCC CTCCTCCTCTCCCCCCTCCTCCTCCCCCTCCCTCCCCCTCCTCCTCTTCC TCCTCCCCCTCCTCCTCTTCCTCCTCCCCCTCCTCCTCTTCCCCCTCCTC CTCTCCCCTCCTCCTCCTCCTCCCTTCTCCTCCTCCTCCTCCCTTCTCCT CCTCCCCCCTCCTCCTCTCCCTCCCCCTCCACCTCCCCCTCCACCTCCCC CTCCTCCCCTCCTCCCCCCTCCTCTCTCCTCCTCCTCCCTCCTCCTCTCC CCTCCTCCCCTCCTCCTCCTTCTCCTCCCCCTCCTCTTCCTCCCCCTCCC CCTCCTCTCCCTCCCCTCCTCCTCTTCCTCCTCCCCCTCCTCCTCTTCCT TCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCT CCTCCTCCTCCCCTCCTCCCTCTTCCCCCTCCTCCTCCTCCCCCTCCTCT CCCTCCCTTCCTCCTCTTCCTCCTCCCCCTCCTCCTCTTCCTCCTTCCCC TCCTCCTATTCCCCCTCCTCCTCTTCCCCCCTCCTCCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCT CCCCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTCCCCTCCTCCTCCCT CCTCCTCTCCCCTCCTCTCCCCTCCTCTCCCCTCCTCCTCCTCCTCTCTC CTCCTCCTCCCCTCCTCCCTCCTCCTCCTCCCCTCCTCCCTCTTCTTCCT CCCCTCCTCCCTCCTCTTCCTCCCCTCCTCCCTCCTCCCCCTCCTCCTTC TCCTTCTCCTCCTCTTCCCCCTCCTGCCTCCTCCCCCCTCCTCCTCCCCC TCCCCCTCCTCCTCCACCTCCCCCTCCTCCCCCTCCCCCTCTCCCCCTCC TCTCCCCCTCCTCTCCCCCTCCTCCCCTCCTCCCTCCTCCTGCCTCCTCC TCTCTCCTCCTCCTCCCTCCTCCTCTCCCCTCCTCCCCTCCTCCCTCCTC CCCCCTCCTCCTCCTTCTCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCC TCTCCCTCCCCTCCTCCTCTTCCTTCTCCCCCTCCTCCTCTTCCCTCTCC TCCTCTTTCCCCTCCTCCCTCCTCCTCCCCCTCCTTCTCCCCCTCCTCCT CTTCCCCCTCCTCCTCTTCCCCCTCCTCCTCTTTCCCCTCCTCCCTCCTC CGCCCTCCTCCTCCCCCTCCCTCTCCTCCTCCGCCTCCCCTTCCTCCTCC CTCTCCCCCTCCTCCTCTCCCTCCCCCTCCTCACCTCCTCCCTCCTCCCC CTCCTCCTCCCCCTCCCCCTCCTCCTCCTCCTCTCCTCTCCTCCTCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC5_chr6_45893456_46020860	45956583	A A	AGCGATGC others(1616): Show AGCGATGCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACA TTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCA CCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAATGCTATCCCTCC CCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCT GTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCC AATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGC TGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTA TCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGT GCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATA CTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTT CTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGA ACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCA TCCTCTCCAGCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAA ACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTC AATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCA AACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAA AACAGAGACATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCC GCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAAT GGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCC ATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTCGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp2 NA18747.hp2 others(1): Show HG00408.hp1 HG02132.hp2 NA18747.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0005g0146	4	340	0.0118	1623	c.64- others(1638): Show c.64-1340_64-1339insATCCTCTCCAGCACCTGTTGTTTCCTGACT TTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTT TTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTG TTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCT TCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTG AGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGC GAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTT CTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATT TTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCC CACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTA TGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTT GTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAG CCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCT TGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATT ATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATGTCTCTGTTTTGGTA CCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGT CAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTG GCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTC CAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGCTGGAGAGGATGCGGA GAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACC ATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATAC CATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAA TCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATT CACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACT GGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATA AAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAAC CATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATAT TCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAG GGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGG ATAGCATTGGGAGATATACTAATGCTAGATGACACATTAGTGGGTGCAGC GCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCA CATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGCATCGC	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
DOCK8_chr9_209865_470255	400730	T T	TCCACCAC others(1616): Show TCCACCACCACCTCCACCACCTCCACCATCACCATCACCACCACCACCGC CACCACCACCATCACCACCACCTCCACCACCAGCACTTCCACCACCACCA CCACCTCCACCACCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCACCACCACCACCACCACCACCTCCACCA TCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCAC CACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCACCACCA CCACCACCACCACCACCACCTCCACCACCACCTCCACCACCACCACCACC ACCACCACCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAC CACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCA CCTCCACCACCACCTCCACCACCTCCACCATCACCACCACCACCTCCACC ACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCAC CATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCACCACC ACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCTCCACCACCTCCACCATCACCACCACCACCTCCACCATCACCATCACC ACCACCACCGCCACCACCACCATCACCACCACCTCCACCACCAGCACTTC CACCATCACCACCACCTCCACCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCTCCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCATCACCACCACCACCGCCACCACCACCATCACCACCGCCTCC ACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCACCACCTC CACCATCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0047 a0047	a0047c0048 a0047c0048	a0047c0048t0008 a0047c0048t0008	a0047c0048t0008g0012 a0047c0048t0008g0012	1	256	0.0039	1623	c.323 others(1642): Show c.3234+1482_3234+1483insTCCACCACCTCCACCATCACCATCAC CACCACCACCGCCACCACCACCATCACCACCACCTCCACCACCAGCACTT CCACCACCACCACCACCTCCACCACCACCACCACCACCTCCACCATCACC ACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACC ACCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCACCACCACCACCACCA CCACCTCCACCATCACCACCACCACCTCCACCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCAC CACCACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCA CCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCTCCACC ACCACCACCACCACCACCACCACCACCACCTCCACCACCACCTCCACCAC CACCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCA CCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCATCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACC ACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCTCCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCATCACCACCACCACCGCCACCACCACCATCACCACCACCTCCAC CACCAGCACTTCCACCATCACCACCACCTCCACCACCACCACCACCACCT CCACCATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCA CCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTC CACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCATCACCACCACCACCGCCACCACCACCATC ACCACCGCCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCAT CACCACCACCTCCACCATCACCACCTCCACCACCACCACCACCTCCACCA CCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
HPCAL1_chr2_10297904_10432604	10399277	C C	CCACCACC others(1616): Show CCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCA CCATCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCAC CACCATCATCACCACCATCACCACCGCCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCATCACCACCATCATCACCACCATCACCACCGCCAC CACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCATCACCACCACCACCACCATCGCCGCCACC ACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCAC CACCATCACCACCACCATCACCACCACCACCACCATCGCCACCACCACCA CCACCACCATCACCAACACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCATCATCACCACCATCACCACCGCCACCACCAC CACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCATCACCACCACCACCACCATCGCCGCCACCACCACC ACCATCGCCACCACCACCACCACCACCATCACCACCACCATCATCACCAC CACCACCATCGCCGCCACCACCACCACCATCGCCGCCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCATCATCACCACCA CCACCATCGCCGCCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCAC CATCGCCGCCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCGCCACCACCACCACCACCATCACCACCACCACCACCATCACCACCATC ACCACCACCATCATCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCATCACCACCACCACCACCATCATCACCACCA TCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCATCATCACCACCACCACCACCACCACCAC CATCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	314	0.0032	1623	c.-25 others(1640): Show c.-25+2359_-25+2360insCCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCGCCACCACCATCACCATCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCGCCACC ACCATCACCATCACCACCACCATCACCACCACCACCATCACCGCCACCAC CATCACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCATCACCACCATCATCACCACCATCACCACCGCCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCATCACCACCATCATCA CCACCATCACCACCGCCACCACCACCACCATCACCACCGCCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCATCGCCGCCACCACCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCACCATCACCACCACCATCACCACCACCACC ACCATCGCCACCACCACCACCACCACCATCACCAACACCACCACCACCAC CACCACCACCATCACCACCACCACCACCATCACCACCATCATCACCACCA TCACCACCGCCACCACCACCACCATCACCACCGCCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCAC CATCGCCGCCACCACCACCACCATCGCCACCACCACCACCACCACCATCA CCACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCACCATC GCCGCCACCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCATCATCACCACCACCACCA TCGCCGCCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCATCATCACCACCACCACCA TCGCCGCCACCACCACCACCATCGCCGCCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCGCCACCACCACCACCACCATCACCACCAC CACCACCATCACCACCATCACCACCACCATCATCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCATCATCACCACCATCACCACCACCACCACCACCATCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCATCACCA CCACCACCACCACCACCACCATCATCACCACCACCACCACCATCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399442	T T	TCACCACC others(1616): Show TCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCATCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACC ACCATCACCATCACCACCACCATCACCACCACCATCATCACCACCACCAC CACCACCATCACCACCATCACCACCACCATCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCATCATCACCACCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCATCATCACCACCACCACCA CCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCATCATCACCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCATCA TCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCACCAC CACCACCACCACCACCACCACCATCACCATCATCACCATCACCATCATCA CCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCATCATCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCACCACCACCATCACCATCACCACCACCAT CACCACCGCCACCACCACCACCATCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCATCACCGCCGCCACCGCCACCACCGCC GCCGCCGCCACCACCGCCGCCGCCACCGCCGCCGCCACCACCATCACCAT CATCACCGCCGCCACCACCACCACCACCATCACCACCACAACCACCACCA CCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCATCACCATCATCACCATCACCATCATCACCAC CACCACCATCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0296 a0001c0001t0006g0296	1	314	0.0032	1623	c.-25 others(1640): Show c.-25+2527_-25+2528insCCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCATCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACCAC CATCACCACCACCACCACCATCACCATCACCACCACCATCACCACCACCA TCATCACCACCACCACCACCACCATCACCACCATCACCACCACCATCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCATCA CCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCATC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA TCATCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCATCACCATCATCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCA CCATCATCACCACCACCACCACCACCACCACCACCACCATCACCATCATC ACCATCACCATCATCACCACCACCACCACCACCACCACCACCACCATCAC CATCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCATCATCACCACCACCACCACCACCACCACCACCACCATCA CCATCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACC ACCATCACCATCATCACCGCCGCCACCACCACCACCATCATCACCGCCGC CACCGCCACCACCGCCGCCGCCGCCACCACCGCCGCCGCCACCGCCGCCG CCACCACCATCACCATCATCACCGCCGCCACCACCACCACCACCATCACC ACCACAACCACCACCACCACCACCATCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCA TCACCATCATCACCACCACCACCATCACCACCACCATCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152683	T T	TCACCACT others(1616): Show TCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACC ACCACCACAACCACCATCTCCTTCACCACCACTACCCCCACCACTACCAC CATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCA CCACCACCATTATCTCCTTCACCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCTCTTCCACCACTACCACCATCT CCTCCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACT ACCACCATCACCTCCTCCACCACCACCACCACCACCACAATTATCTCCTT CATCACCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCA CCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCT TCCACCACTACCACCATCTCCTCCACCACCACCACCACCACCACAATTAT CTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCA CCACCACCACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACT ACCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCAC TACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCT CCACCACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCC ACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACCACCAC CATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCT CCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACC ATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACCACCACCAC CACAATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCT CCTCCGCCACCATCACCATCACCTCCACAACCACCACCATTATCTCCTTC ATCACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCAC CATCTCCTCCACCACCACTACCACCACCACCACAATTATCTCCTTCATCA CCACTACCCCCACCACTACCACCATCTCCTCCACCACCACTACCACCACC ACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCAC TACCACCACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACCA CCACCATCACCTCCTCCACCACTACCATCTCCTTCATCACCACTACCCCC ACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCAC CACCACCACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACTA CCACCATCACCTCCTCCGCCACCATCACCATCACCTCCACAACCACCACC ATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCTTC CACCACTACCACCATCTCCTTCAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	274	0.0037	1623	c.804 others(1640): Show c.804+4432_804+4433insGTGAAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTG GTGGTTGTGGAGGTGATGGTGATGGTGGCGGAGGAGGTGATGGTGGTAGT GGTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGTGG TGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGATGAAGGAGATGGTAGTGGTGGAGGAGGTGATGGTGGTGGT GGTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTAGTGG TGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTG GTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGGGGTAGTGGTGAT GAAGGAGATAATTGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATAATGGTGGTGGTTGTGGAGGTGATGGTGATGGTGGCGGAGGAGGT GATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGG TGGTGGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGT GATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TGGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGA GATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTG GTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGTGGT GGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAA TTGTGGTGGTGGTGGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAG GTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGT GGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGG AGATAATTGTGGTGGTGGTGGTGGTGGTGGAGGAGGTGATGGTGGTAGTG GTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGAGGAGAT GGTGGTAGTGGTGGAAGAGGTGATGGTGATAGTGGTGGGGGTAGTGGTGA TGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATG GTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATAATGGTGGTGGTGGT GGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGG TAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTTGTGGTGGTGGTG GTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(1616): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAA CCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGGCCC CTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGAACCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCC TCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0103 a0001c0007t0001g0103	1	282	0.0036	1623	c.258 others(1640): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCC CTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACCGGGCCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCC TCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGAACCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTC TCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACC GGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCC TCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCC TCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCC CTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACC GGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCT CCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATCAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATATTATATATTTATAATATATA TATTAGATTATATATATTATATATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATATTAGATTATATATTATACATTTATAATATA TATATTAGATTATATATTATACATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATTAGATTATATATTATACATGTATAATATATA TTAGATTATATATATTATACATGTATAATATATATATTAGATTATATATA TTATACATGTATAATATATATATTAGATTATATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	402	0.0025	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATCAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATATTATATATTTATAATATATATATTAGATTATATATATTATATATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATATTAGATT ATATATTATACATTTATAATATATATATTAGATTATATATTATACATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATTAGATTAT ATATTATACATGTATAATATATATTAGATTATATATATTATACATGTATA ATATATATATTAGATTATATATATTATACATGTATAATATATATATTAGA TTATATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATCAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATATTATATATTTATAATATATA TATTAGATTATATATATTATATATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATATTAGATTATATATTATACATTTATAATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT ACATTTATAATATATATTAGATTATATATATTATACATGTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18944.hp2 NA18998.hp2 HG04228.hp1 NA18944.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0300 a0001c0001t0002g0329 a0001c0001t0002g0052 a0001c0001t0002g0300 a0001c0001t0002g0329	3	402	0.0075	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATCAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATATTATATATTTATAATATATATATTAGATTATATATATTATATATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATATTAGATT ATATATTATACATTTATAATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATATT ATATATTTATAATATATATATTAGATTATATATATTATATATTTATAATA TATATTAGATTATATATTATACATTTATAATATATATATTAGATTATATA TTATACATTTATAATATATATTAGATTATATATTATACATTTATAATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT ACATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0370 a0001c0001t0002g0370	1	402	0.0025	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATATTATATATTTATAATATATATATTAGATT ATATATATTATATATTTATAATATATATTAGATTATATATTATACATTTA TAATATATATATTAGATTATATATTATACATTTATAATATATATTAGATT ATATATTATACATTTATAATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATATTAGATTATATATTATACATTTATAATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT ACATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18955.hp1 HG02738.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0332 a0001c0001t0002g0283 a0001c0001t0002g0332	2	402	0.0050	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATATTAGATT ATATATTATACATTTATAATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATATTATATATTTATAATATATA TATTAGATTATATATATTATACATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATATTAGATTATATATTATACATTTATAATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT ACATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19070.hp2 HG02602.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0018t0002 a0001c0001t0002 a0001c0018t0002	a0001c0001t0002g0330 a0001c0018t0002g0322 a0001c0001t0002g0330 a0001c0018t0002g0322	2	402	0.0050	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATATTATATATTTATAATATATATATTAGATTATATATATTATACATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATATTAGATT ATATATTATACATTTATAATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATATTATATATTTATAATATATA TATTAGATTATATATATTATACATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATATTAGATTATATATTATACATTTATAATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT GCATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0331 a0001c0001t0002g0331	1	402	0.0025	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATATTATATATTTATAATATATATATTAGATTATATATATTATACATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATATTAGATT ATATATTATACATTTATAATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATGCATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATATTATATATTTATAATATATA TATTAGATTATATATATTATATATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATATTAGATTATATATTATACATTTATAATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT ACATTTATAATATATATTAGATTATATATATTATACATGTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	402	0.0025	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATATTATATATTTATAATATATATATTAGATTATATATATTATATATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATATTAGATT ATATATTATACATTTATAATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATATTATATATTTATAATATATA TATTAGATTATATATATTATATATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATATTAGATTATATATTATACATTTATAATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT ACATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02129.hp2 HG02027.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0342 a0001c0001t0002g0309 a0001c0001t0002g0342	2	402	0.0050	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATATTATATATTTATAATATATATATTAGATTATATATATTATATATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATATTAGATT ATATATTATACATTTATAATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATATCAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATTATATATTTATAATATATATT AGATTATATATATTATATATTTATAATATATATATTAGATTATATATATT ATATATTTATAATATATATTAGATTATATATTATACATTTATAATATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT ACATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	402	0.0025	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATATCAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATTATATATTTATAATATATATTAGATTATATATATTATATATTTATAAT ATATATATTAGATTATATATATTATATATTTATAATATATATTAGATTAT ATATTATACATTTATAATATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGA3_chr17_50051110_50095481	50086098	A A	ATTATGTA others(1616): Show ATTATGTATATTATAGATTTATAATATATATTAGATTATGTATGTTATAG ATTTATAATATATATTAGATTATGTATGTTATAGATTTATAATAGATTAT GTATGTTATAGATTTATAATATATATTAGATTATGTATATTATAGGTTTA TAATATATATTAGATTATGTATATTATAGGTTTATAATATATATTAGATT ATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTATAGGTT TATAATATATATTAGATTATGTATATTATAGGTTTATAATATATATATTA GATTATGTATATTATAGGTTTATTATATATATTAGATTATATGTTTATAA TATATATTAGATTATGTATATTAGATGTTTATAATATATATTAGATTATG TATATTATATGTTTATAATATATATTAGATTATGTATATTATGTGTTTAT AATATATATGTTAGATTATGTATATTATGTGTTTATAATATATATTAGAT TATATATATTATGTGTTTATTATATATTAGATTATATATTATGTTTATTA TATATTAGATTATATATTATGTTTATTATATATATTAGATTATATATATT ATATGTTTATTATATATATTAGATTATATATTATATATTTATAATATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATATTAGATTATATATT ATATATTTATAATATATATTAGATTATATATTATATATTTATAATATATA TTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATAT ATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTAG ATTATATATTATATATTTATAATATATATTAGATTATATATTATATATTT ATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATTA TATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAA TATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATA TTATATATTTATAATATATATTAGATTATATATTATATATTTATAATATA TATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTAT ATATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATTTATAATATATATTAGATTATATATT ATACATTTATAATATATATATTAGATTATATATTATACATTTATAATATA TATTAGATTATATATTATACATTTATAATATATATTAGATTATATATTAT ACATTTATAATATATATTAGATTATATATATTATACATTTATAATATATA TATTAGATTATATATATTATACATGTATAATATATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATTATACATGTATAA TATATATATTAGATTATATATTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0280 a0001c0001t0016g0280	1	402	0.0025	1623	c.292 others(1642): Show c.2920-1646_2920-1645insTTATGTATATTATAGATTTATAATAT ATATTAGATTATGTATGTTATAGATTTATAATATATATTAGATTATGTAT GTTATAGATTTATAATAGATTATGTATGTTATAGATTTATAATATATATT AGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATTAT AGGTTTATAATATATATTAGATTATGTATATTATAGGTTTATAATATATA TTAGATTATGTATATTATAGGTTTATAATATATATTAGATTATGTATATT ATAGGTTTATAATATATATATTAGATTATGTATATTATAGGTTTATTATA TATATTAGATTATATGTTTATAATATATATTAGATTATGTATATTAGATG TTTATAATATATATTAGATTATGTATATTATATGTTTATAATATATATTA GATTATGTATATTATGTGTTTATAATATATATGTTAGATTATGTATATTA TGTGTTTATAATATATATTAGATTATATATATTATGTGTTTATTATATAT TAGATTATATATTATGTTTATTATATATTAGATTATATATTATGTTTATT ATATATATTAGATTATATATATTATATGTTTATTATATATATTAGATTAT ATATTATATATTTATAATATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATATTAGATTATATATTATATATTTATAATATATATTAGATTAT ATATTATATATTTATAATATATATTAGATTATATATTATATATTTATAAT ATATATTAGATTATATATTATATATTTATAATATATATTAGATTATATAT TATATATTTATAATATATATTAGATTATATATTATATATTTATAATATAT ATTAGATTATATATTATATATTTATAATATATATTAGATTATATATTATA TATTTATAATATATATTAGATTATATATTATATATTTATAATATATATTA GATTATATATTATATATTTATAATATATATTAGATTATATATTATATATT TATAATATATATTAGATTATATATTATATATTTATAATATATATTAGATT ATATATTATATATTTATAATATATATTAGATTATATATTATATATTTATA ATATATATTAGATTATATATTATATATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATTTA TAATATATATTAGATTATATATTATACATTTATAATATATATATTAGATT ATATATTATACATTTATAATATATATTAGATTATATATTATACATTTATA ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATTTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATATTAGATTATATATATTATACATGTATAATATATATATTA GATTATATATTATACATGTATAATATATATATTAGATTATATATTAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
LAMA5_chr20_62304065_62372312	62318240	G G	GGAAGGGG others(1616): Show GGAAGGGGAGAGAGGAGAAGGGGAGAGGGGAAGGGGAGAGAGGAGAAGGG GGGAGGGGAAGGGGAAGGGGGAGGGGAAGGGGGGAGGGGAAGGGGGGAGG GGAGATGGGAGGGGAAGGGGGAGAGGGGAGGGGAAGGGGAAGGGGGAGAG GGGAGGGGGAGGGAAGGGGGAGAGGGGAGGGGGAGGGAAGGGGGAGAGGG GAGGGGGAGGGGAAGGGGGAGAGGGGAGGGGGAGGGGAAGGGGGAGAGGG GAGGGGGAGGGGAAGGGGGAGAGGGGAGGGGGAGGGGAAGGGGGAGAGGG GAGGGGGAGGGGAAGGGGGAGAGGGAGGGGGAGGGGAAGGGGAGAGGGAG GGGGAGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGAGGGGGGAGGGGAA GGGGGGAGGGGAAGGGGGAGAGAGGAGGGGGGAGGGGAGAGGGGAGGGGG AAGGAGGAGGGGAAAGGGGAGGGGGAAGGAGGAGGGGAAAGGGGAGGGAG GAGGGAACAGGGGGAGGGGGAAGGGGGAGGGGGAAGGCGGAGGAGAAGAG GGGGGCAAGGGGTAAGGGGGAGGAGGGGAGGGGGGCAAGGGAGAAGGGGA AGGGGAGGAGGGGGAGAGGGGGAAGGGGAGGAGGGAGAGAGGGGGAAGGG GAGGAGGGGGAGAGGGGGAAGGGGAGGAGGGGGAGAGGGGGAAGGGGAGG AGGGGGACAGGGGGAAGGGGAGGAGGGGGACAGGGAGAAGCACAGGAGAG GGACGGGAAGCGGAGGAGGGGGACGGGAGGAGGGGGAAAGGGGAGGAGGG GGAAAGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGGAGGGAGAGGAGGA TGGGGGGAGAAGAGGGGGAGGAGGGCGAAGGAGGAGAGGGGGGAGGGGAG GAGGGCGAGGGAAGAGGGGGAGGAGAGGGGGGAGAGGAAGGAGGGCGAGG GAGGGGGAAAGGAAGGGAAGGAGGGCGAGGGAGGGGAGAGGAGGGGAGAG GAGGGCGAGGGGGGAGAGGAGGGGAAGAGGAGGGCGAGGGAGGGGGAGAG GAGGAGGGAGAGGAGGGCGAGGGAGGGGGAGAGGAGGAGGGAGAGGAGGG GGAGAGGAGAAGGGAGAGGAGGGTGAGGGAGGGGGAGAGGAGTGGGGAGG GGGAGAGGAGGAAGGAGGAGGGGGAGAGGAGAAGGGAGAGGAGGGTGAGG GAGGGGGAGAGGAGTGGGGAGGGGGAGAGGAGTGGGGAGGGGGAGAGGAG GAAGGAGGAGGGGGAGAGGAGGGGAGAGGAGGAAGGAGGAGGGGGAGAGG AGGGGGGAGGAGGGGGGAGGAGGGGGAAAGGAGGGGGGAGGAGGGCGAGG GAGGGTGAGAGGAGGGGGAGGAGGGAGAGGAGGGTGAGGGAGGAGGGAGG GGTGAGGGAGGGGGAAGAGGGTGAGGGAGGAGGCAGAGGAGGGTGAGGAG GGCGAGGGAGGAGGGTGAGGGAGGAGGGGGGAGGAGGGGGTAGGAGGGGG TAGGAGGGGGGAGGGGGAGGGTGACTGGAGGAGGAGGGGGGAGCAGGAGG GGGAGGAGGAGGGGGGAGCAGGAGGGGAGGAGGAGGGGGGAGCAGGAGGG GGAGGGGGAGGAGGAGGAGGAAGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0114 a0010c0006t0001g0114	1	186	0.0054	1623	c.723 others(1640): Show c.7239+213_7239+214insTCTTCCTCCTCCTCCTCCCCCTCCCCCT CCTGCTCCCCCCTCCTCCTCCCCTCCTGCTCCCCCCTCCTCCTCCCCCTC CTGCTCCCCCCTCCTCCTCCAGTCACCCTCCCCCTCCCCCCTCCTACCCC CTCCTACCCCCTCCTCCCCCCTCCTCCCTCACCCTCCTCCCTCGCCCTCC TCACCCTCCTCTGCCTCCTCCCTCACCCTCTTCCCCCTCCCTCACCCCTC CCTCCTCCCTCACCCTCCTCTCCCTCCTCCCCCTCCTCTCACCCTCCCTC GCCCTCCTCCCCCCTCCTTTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC TCCCCCTCCTCCTTCCTCCTCTCCCCTCCTCTCCCCCTCCTCCTTCCTCC TCTCCCCCTCCCCACTCCTCTCCCCCTCCCCACTCCTCTCCCCCTCCCTC ACCCTCCTCTCCCTTCTCCTCTCCCCCTCCTCCTTCCTCCTCTCCCCCTC CCCACTCCTCTCCCCCTCCCTCACCCTCCTCTCCCTTCTCCTCTCCCCCT CCTCTCCCTCCTCCTCTCCCCCTCCCTCGCCCTCCTCTCCCTCCTCCTCT CCCCCTCCCTCGCCCTCCTCTTCCCCTCCTCTCCCCCCTCGCCCTCCTCT CCCCTCCTCTCCCCTCCCTCGCCCTCCTTCCCTTCCTTTCCCCCTCCCTC GCCCTCCTTCCTCTCCCCCCTCTCCTCCCCCTCTTCCCTCGCCCTCCTCC CCTCCCCCCTCTCCTCCTTCGCCCTCCTCCCCCTCTTCTCCCCCCATCCT CCTCTCCCTCCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCTTTCCCCCT CCTCCCCTTTCCCCCTCCTCCCGTCCCCCTCCTCCGCTTCCCGTCCCTCT CCTGTGCTTCTCCCTGTCCCCCTCCTCCCCTTCCCCCTGTCCCCCTCCTC CCCTTCCCCCTCTCCCCCTCCTCCCCTTCCCCCTCTCCCCCTCCTCCCCT TCCCCCTCTCTCCCTCCTCCCCTTCCCCCTCTCCCCCTCCTCCCCTTCCC CTTCTCCCTTGCCCCCCTCCCCTCCTCCCCCTTACCCCTTGCCCCCCTCT TCTCCTCCGCCTTCCCCCTCCCCCTTCCCCCTCCCCCTGTTCCCTCCTCC CTCCCCTTTCCCCTCCTCCTTCCCCCTCCCCTTTCCCCTCCTCCTTCCCC CTCCCCTCTCCCCTCCCCCCTCCTCTCTCCCCCTTCCCCTCCCCCCTTCC CCTCCCCCCTCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCTCCCCCTCC CTCTCCCCTTCCCCTCCCCCTCCCTCTCCCCCTTCCCCTCCCCCTCCCCT CTCCCCCTTCCCCTCCCCCTCCCCTCTCCCCCTTCCCCTCCCCCTCCCCT CTCCCCCTTCCCCTCCCCCTCCCCTCTCCCCCTTCCCCTCCCCCTCCCCT CTCCCCCTTCCCTCCCCCTCCCCTCTCCCCCTTCCCTCCCCCTCCCCTCT CCCCCTTCCCCTTCCCCTCCCCTCTCCCCCTTCCCCTCCCATCTCCCCTC CCCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCTTCCCCTCCCCCCT TCTCCTCTCTCCCCTTCCCCTCTCCCCTTCTCCTCTCTCCCCTTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(1616): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGGTGGGGGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCGTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGAGG GTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGC CACCCCGTCCGGGACGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCAGCCCGGCCAGCC GCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGG GGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCC CAGACAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	256	0.0039	1623	c.241 others(1642): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCTGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC ACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGCTGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCGTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC TCCCCACCTCCCTCCCGGACGGCACGGCTGGCCACGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCC CCCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGCGGCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
PAM16_chr16_4335251_4356321	4344674	T T	TGTGAGAG others(1616): Show TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGTG ACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAG AGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTG TGAGAGGAGGGGGTTCTGTGAGAGGAGTGGACTGTGTGAGAGGAGGGGGT TCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTG AGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGGTTCTGTGAGAGGAGGGG ACTGTGTGAGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGG GACTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGG GATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTCTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGA TTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAG GGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGA GGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGT GAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACT GTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGACGGGGTTCTGTGAGAGG AGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCCGTG AGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGG GTTCCGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGA GGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAG AGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCG TGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GGGATTGTGTGAGGGGGGGGTTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	367	0.0027	1623	c.4-1 others(1636): Show c.4-1384_4-1383insGGAACCCCCCCCTCACACAATCCCCTCCTCTC ACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCC TCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCTC CTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCC CCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGA ACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCA CGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTCACGGAACCCCCTCCT CTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCC TCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAAC CCCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAA CCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCAC AGAACCCCGTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTC TCACACAGTCCCCTCCTCTCAGAGAACCCCCTCCTCTCACACAGTCCCCT CCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTC CCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAC AATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTC ACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCCCTCC TCTCACGGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCC CTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCAGAGAA CCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCAC AGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCCCTCCTC TCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCAGTCCCCTCCTC TCACACAATCCCCTCCTCTCACGGAACCCCCTCTCACACAGTCCCCTCCT CTCACAGAACCCCCTTCTCTCACACAATCCCCTCCTCTCACAGAACCCCC TCCTCTCACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAAC CCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACA GAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCT CACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTC CTCTCACACAGTCCACTCCTCTCACAGAACCCCCTCCTCTCACAGAACCC CCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGA ACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCA CAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCACCTCCT CTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCAC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(1616): Show CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATTATCTTTATTT TATTATAAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAATCTTTATTTTATTATAAAATTATCTTTATTTTATT ATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAA TTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCT TTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTT TATTATTATAAAATTATCTTTATTATAATAAAATAAATTATCTTTATTTT ATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0139 a0005c0006t0002g0139	1	334	0.0030	1623	c.45- others(1638): Show c.45-8398_45-8397insTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAATCTTTATTTTATTATAAAATTA TCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTA TTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTAT TATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAA ATTATCTTTATTTTATTATTATAAAATTATCTTTATTATAATAAAATAAA TTATCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(1616): Show CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTA TTATAAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAATCTTTATTTTATTATAAAATTATCTTTATTTTATT ATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAA TTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCT TTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTT TATTATTATAAAATTATCTTTATTATAATAAAATAAATTATCTTTATTTT ATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	334	0.0030	1623	c.45- others(1638): Show c.45-8398_45-8397insTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT TATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAATCTTTATTTTATTATAAAATTA TCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTA TTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTAT TATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAA ATTATCTTTATTTTATTATTATAAAATTATCTTTATTATAATAAAATAAA TTATCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RUFY1_chr5_179545554_179615012	179594578	A A	AGTGAAAT others(1616): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCGCCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTA CAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGATACG GAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTGATC CACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC CCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATATGCT ATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTAATG TCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATTTTT CAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGGCCAGGCTGGA GTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTCCCAGGCTCAG GCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTGC CACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCAGCA TGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCACGTCCCGCCT ATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAGGAACACACAG TGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAGCTGTACTTAG AGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACCCCTCATTTGC TCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAATGGGAAAAGT GGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAGATGAACTAGT GGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAGCCTGACCCGA CTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGACCTCCCCTCT CTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTCAGTTTGTCTT CCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCTTGAAAGTGTC ACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGGCTCATGCCTG TAATCGTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAG ATTGAGACCATTTTGGCTAACATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02083.hp1 HG00280.hp2 HG02083.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0176 a0001c0004t0003g0182 a0001c0004t0003g0176 a0001c0004t0003g0182	2	376	0.0053	1623	c.141 others(1640): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCA CTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTTGTA TTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACT CCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTT TTCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTT CTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATACAGT CTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCT GTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCT GTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGA GATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAG GTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGC TACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACA CACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCT AAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTT GCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTT CTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGG CTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAACA TTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTC CCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTT GAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAAT ACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCGC GGTGGCTCATGCCTGTAATCGTAGCACTTTGGGAGGCCGAGGCAGGTGGA TCACGAGGTCAGGAGATTGAGACCATTTTGGCTAACATGGTGAAA	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(1616): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTC ACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCGCC TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACT ACAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGATAC GGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTGAT CCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTG CCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATATGC TATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTAAT GTCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATTTT TCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGGCCAGGCTGGA GTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTCCCAGGCTCAG GCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTGC CACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCAGCA TGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCACGTCCCGCCT ATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAGGAACACACAG TGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAGCTGTACTTAG AGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACCCCTCATTTGC TCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAATGGGAAAAGT GGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAGATGAACTAGT GGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAGCCTGACCCGA CTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGACCTCCCCTCT CTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTCAGTTTGTCTT CCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCTTGAAAGTGTC ACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGGCTCATGCCTG TAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAG ATTGAGACCATTCTGGCTAACATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0201 a0006c0009t0002g0201	1	376	0.0027	1623	c.141 others(1640): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTC ACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCC TGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTTGT ATTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAAC TCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCT TTTCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGT TCTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATACAG TCTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCT GTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCT GTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGA GATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAG GTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGC TACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACA CACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCT AAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTT GCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTT CTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGG CTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAACA TTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTC CCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTT GAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAAT ACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCGC GGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGA TCACGAGGTCAGGAGATTGAGACCATTCTGGCTAACATGGTGAAA	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVOPL_chr7_138589285_138706362	138611875	G G	GCCACCCC others(1616): Show GCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTC TGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGA GCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTC CCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCAGCCC ATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATG TGAGGAGCGCCTCTGCCCGGCGGAGACCCCGTCTGGGAGGTGAGGAGCGT CTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAA CCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTC TGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGA GGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG TCAGCCCCCCGGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCAGCCAGCCGCGCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCGCCCCGCCCGGCCAGC CGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCTGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGAGGGTGTCAGCCCCACGCCCGGCCA GCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGGCCAG TGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTTGGAGGGAGGTG GGGGGGGTCAGCCCCCCCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	360	0.0028	1623	c.135 others(1642): Show c.1353+9170_1353+9171insTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGGGGGGGCTGACCCCCCCCA CCTCCCTCCAAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACT GGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTG GCCGGGCGTGGGGCTGACACCCTCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGGCTGACCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCC ACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGGC TGGCCGGGCGGGGCGCTGACCCCCCCCACCTCCCTCCTGGATGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGCGCGGCTGGCTGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCCGGGGGGCTGACC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTC ACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGA CGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTT GCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGAC GCTCCTCACCTCCCAGACGGGGTCTCCGCCGGGCAGAGGCGCTCCTCACA TCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGG GCTGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGA AGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTC CTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGA CGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGG	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138611875	G G	GCCACCCC others(1616): Show GCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTC TGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGA GCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTC CCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCAGCCC ATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATG TGAGGAGCGCCTCTGCCCGGCGGAGACCCCGTCTGGGAGGTGAGGAGCGT CTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAA CCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTC TGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGA GGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGT CAGCCCCCCGGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCA CCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCAACCTGGCCAGCC GCCCCATCCAGGAGGGAGGTGGGGGGGGGTCAGCGCCCCGCCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCACGCCCGGCCAGCCGCCTCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCTGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGAGGGTGTCAGCCCCACGCCCGGCCA GCCGCCTCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCTGCCCGGCCA GTGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTTGGAGGGAGGT GGGGGGGGTCAGCCCCCCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	360	0.0028	1623	c.135 others(1642): Show c.1353+9170_1353+9171insTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGGGGGGCTGACCCCCCCCAC CTCCCTCCAAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTG GCCGGGCAGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTG GCCGGGCGTGGGGCTGACACCCTCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGGCTGACCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCC ACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGGGCGCTGACCCCCCCCCACCTCCCTCCTGGATGGGGCGG CTGGCCAGGTTGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCCGGGGGGCTGAC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTC ACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGA CGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTT GCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGAC GCTCCTCACCTCCCAGACGGGGTCTCCGCCGGGCAGAGGCGCTCCTCACA TCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGG GCTGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGA AGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTC CTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGA CGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGG	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	14/15			chr7	TogoVar
TWIST2_chr2_238843085_238915534	238870135	C C	CAAACCAC others(1616): Show CAAACCACACACCCCACACACACCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACACCCCCCACACAC CACACCCCATACACACCACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACACCCCCCACACACCACACAAAC CACACACCCCACACACACCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACACCCCATACACACCACACACCCCACACACACCACAC ACCACACACACACCACACCCCACACACACCACACCCCACACACCCCACAC ACCCCACACACCACACACCCCACACACCACACACCCCACACACCCCACAC ACACCACACACACCCCACACACCACACACACCACACACCCCACACACACA TCACATACCACACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACACCC CCCACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CACACACACCACACACCCCACACACACCACACACCCCCCACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCACACACACCACAC ACCCCCCACACACCACACCCCACACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACACCCCCCACACACCACACACCCCACACACACCACACACCCCCCA CACACCACACACCCCACACACACCACACACCCCACACACACACCACACAA ACCACACACCCCACACACACCACACACCCCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACCCCCCACACACCACACCCCATACAC ACCACACACCCCACACACACCACACACCCCCCACACACCACACCCCATAC ACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCACAC ACACACCACACACCCCCGACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	338	0.0030	1623	c.35 others(1642): Show c.35+21402_*35+21403insAAACCACACACCCCACACACACCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCC CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACACCCCCCACACACCACACCCCATACACACCACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CACCCCCCACACACCACACAAACCACACACCCCACACACACCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACACCCCATACACAC CACACACCCCACACACACCACACACCACACACACACCACACCCCACACAC ACCACACCCCACACACCCCACACACCCCACACACCACACACCCCACACAC CACACACCCCACACACCCCACACACACCACACACACCCCACACACCACAC ACACCACACACCCCACACACACATCACATACCACACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACACCCCACACACAC CACACACCCCCCACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACACCCCCCACACACCACACCCCACACAC ACACCACACACCCCACACACACCACACACCCCACACACACCACACACCCC CCACACACCACACCCCATACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCCCACACACCACACACC CCACACACACCACACACCCCCCACACACCACACACCCCACACACACCACA CACCCCACACACACACCACACAAACCACACACCCCACACACACCACACAC CCCACACCCCACACACACCACACCCCACACACACCACACCCCACACACCC CCCACACACCACACCCCATACACACCACACACCCCACACACACCACACAC CCCCCACACACCACACCCCATACACACCACACCCCACACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCACACACACACCACACACCCCCGACACACCAC ACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
CLIC5_chr6_45893456_46020860	45956583	A A	AGCGATGC others(1617): Show AGCGATGCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGC ACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAATGCTATCCCTC CCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCC TGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATG CGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTC CAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGG CTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCT ATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAG TGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTAT ACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATT TCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG AACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGC ATCCTCTCCAGCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAA AACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGT CAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTC AAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCA AAACAGAGACATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGC CGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAA TGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGC CATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAA TCAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAA ACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAA GGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTG ACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACT ACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTCGCAAC CTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAAC AAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGAC ATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACAT GAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCA CTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCA GGAAACAACAGGTGCTGGAGAGGAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18948.hp1 NA18975.hp1 others(2): Show HG00438.hp1 NA18948.hp1 NA18975.hp1 NA18979.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0031 a0001c0001t0001 a0001c0001t0028 a0001c0001t0031	a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0269 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0269 a0001c0001t0028g0141 a0001c0001t0031g0218	5	340	0.0147	1624	c.64- others(1639): Show c.64-1340_64-1339insATCCTCTCCAGCACCTGTTGTTTCCTGACT TTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTT TTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTG TTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCT TCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTG AGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGC GAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTT CTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATT TTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCC CACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTA TGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTT GTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAG CCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCT TGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATT ATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATGTCTCTGTTTTGGTA CCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGT CAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTG GCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTC CAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGCTGGAGAGGATGCGGA GAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACC ATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATAC CATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAA TCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATT CACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACT GGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATA AAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAAC CATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATAT TCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAG GGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGG ATAGCATTGGGAGATATACTAATGCTAGATGACACATTAGTGGGTGCAGC GCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCA CATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGCATCGC	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
DLGAP4_chr20_36301339_36533633	36314370	G G	GTGGAGGG others(1617): Show GTGGAGGGAGTGTGAAGGGTGTGTGTGTGCATGCTGTTTGTGTGTGTATG TGTAGTGTGTGTGTGGTGTGTGTGTGGTATGTGTATGTGTGTGTGGTATG TATGGTGTGTGTATGGTGTGTGGTGTGTATGGAGTGTGTGTGTGTATGGT GTGTGTGGTGTGTAGGATATGTGGTGTGTATGGTGTGTGGTATGTGTGAT GTGTATGTGGTGTGTGTGAGGTATCTATTTGTGGTGTGTGTGGAGTGTAT GGTGTTTGTAGTGTGTGCGTGTCGTGTATATGTGGTGTGTGTGTGCTGCA TGGTGTGTGCTGTGTGTGTAGTGTGTATATGGTGTGTAGAGGTGTATGGT ATGTATGTATGGTGTGTGTGTTTATGTGGCATGTGTGTTGTGCATGATGT GTGTATGGTGTGTGTGTTTGTGTGGTGTGTGTGTTGTGCATGATGTATGT ATGGTGTGTGTGTGGTGTGTGTGATGTGTGTGGGACTATGGTATGTATGG TGTGTGTGTGTGGTGTGTGGTATGTGTGTGTGAGGCATGTATGGTGTGTA TGTGGTGTGTGGTGTGGGTGTGGATGTATGATATGCATGGTGTGTGTGGC ATGTGTGGTGTGTGTGTGGTATGTATGTGTGGTGTCTGTGTGACATGTAT GGTGTGTGTGGTGTGTGTGTGGTATGTGGTATGTATGTAGGGTGTGTGAT GTGTGTGTGTTGTGTTTGGTGTGTGTGTGCTGTGTGTGGTGTGTGTTTGG TATCTGTTGTGTGTGTGGTGTGTGTGTGGTATGAGTTTGGTATCTGTTGT GTGTGTGGTATGTATGCTGTTTGGAATGTGCATGTGGTGTGTATGGTGTG TGTGGTATCTGTATCTGTGTGGTGTGTATGTGATCTGTGTGGTGTATGTG GCGTGTGTGATGTGTGGTGTGTGTGGTATCTGTATGGTGTGTGTGGTATG CATGTGTGGTGTGTGTGGGGTGTGTGTGTGATGTGTGTGGTGTGTGTGAG GGGTATCTTTGTGACATCTGTGTTGTGTGTATGTGATCTGTGTGGTGTAT GTGGTGTGTGTGGTGTGTGTGTGGTATCTGTATGATGTGTGTGGTATGCA TGTGTGGTGTGTGTGGGGTGTGTGCATGATGTGTGTGGTGTGTGTGAGGG GTAGGGGTATCTTTGTGGCATCTGTGTGGTGTGTGTGGCATCTGTGTGGT GTGTGGTGTGTGTGTGGTATGTATGGTGTGTGTGTGGTATCTGTGTGGCA TGTGGCATGTGTGTGGTGTGTATGGTACGTATTGTGTATGGTGTGTGTGA TGTGTATGTGTGTTTGGTGGTTCTGTGTGTGGTGTGTATGTGGTATCTGT GTGGCGTGTGTGGTGTGTGTGTGGCATCTGTGTGGTTTGTGGTGTGCGTG TGGCATGTGTATGGTGCGTATGTGGTGTGTGTATGTTGTGTGTTTGGTGG TTGTGTGTGGTGTGTGTGTGGTGTGTTTGTGTGTTATGATGTGTGTGAGG TATCTGTGTGGCATGTGTGTGGTGTGTGTGTGATATCAGTGTGGCATGTG TGGTGTGGGGTATGTATGGTGTGTGTGGTGTGTGTATTTGTGTGGCGTGT GTGGCATGTGTGGCATGTGTGGCGT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	144	0.0069	1624	c.-30 others(1643): Show c.-304+7858_-304+7859insTGGAGGGAGTGTGAAGGGTGTGTGTG TGCATGCTGTTTGTGTGTGTATGTGTAGTGTGTGTGTGGTGTGTGTGTGG TATGTGTATGTGTGTGTGGTATGTATGGTGTGTGTATGGTGTGTGGTGTG TATGGAGTGTGTGTGTGTATGGTGTGTGTGGTGTGTAGGATATGTGGTGT GTATGGTGTGTGGTATGTGTGATGTGTATGTGGTGTGTGTGAGGTATCTA TTTGTGGTGTGTGTGGAGTGTATGGTGTTTGTAGTGTGTGCGTGTCGTGT ATATGTGGTGTGTGTGTGCTGCATGGTGTGTGCTGTGTGTGTAGTGTGTA TATGGTGTGTAGAGGTGTATGGTATGTATGTATGGTGTGTGTGTTTATGT GGCATGTGTGTTGTGCATGATGTGTGTATGGTGTGTGTGTTTGTGTGGTG TGTGTGTTGTGCATGATGTATGTATGGTGTGTGTGTGGTGTGTGTGATGT GTGTGGGACTATGGTATGTATGGTGTGTGTGTGTGGTGTGTGGTATGTGT GTGTGAGGCATGTATGGTGTGTATGTGGTGTGTGGTGTGGGTGTGGATGT ATGATATGCATGGTGTGTGTGGCATGTGTGGTGTGTGTGTGGTATGTATG TGTGGTGTCTGTGTGACATGTATGGTGTGTGTGGTGTGTGTGTGGTATGT GGTATGTATGTAGGGTGTGTGATGTGTGTGTGTTGTGTTTGGTGTGTGTG TGCTGTGTGTGGTGTGTGTTTGGTATCTGTTGTGTGTGTGGTGTGTGTGT GGTATGAGTTTGGTATCTGTTGTGTGTGTGGTATGTATGCTGTTTGGAAT GTGCATGTGGTGTGTATGGTGTGTGTGGTATCTGTATCTGTGTGGTGTGT ATGTGATCTGTGTGGTGTATGTGGCGTGTGTGATGTGTGGTGTGTGTGGT ATCTGTATGGTGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGT GTGATGTGTGTGGTGTGTGTGAGGGGTATCTTTGTGACATCTGTGTTGTG TGTATGTGATCTGTGTGGTGTATGTGGTGTGTGTGGTGTGTGTGTGGTAT CTGTATGATGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGCAT GATGTGTGTGGTGTGTGTGAGGGGTAGGGGTATCTTTGTGGCATCTGTGT GGTGTGTGTGGCATCTGTGTGGTGTGTGGTGTGTGTGTGGTATGTATGGT GTGTGTGTGGTATCTGTGTGGCATGTGGCATGTGTGTGGTGTGTATGGTA CGTATTGTGTATGGTGTGTGTGATGTGTATGTGTGTTTGGTGGTTCTGTG TGTGGTGTGTATGTGGTATCTGTGTGGCGTGTGTGGTGTGTGTGTGGCAT CTGTGTGGTTTGTGGTGTGCGTGTGGCATGTGTATGGTGCGTATGTGGTG TGTGTATGTTGTGTGTTTGGTGGTTGTGTGTGGTGTGTGTGTGGTGTGTT TGTGTGTTATGATGTGTGTGAGGTATCTGTGTGGCATGTGTGTGGTGTGT GTGTGATATCAGTGTGGCATGTGTGGTGTGGGGTATGTATGGTGTGTGTG GTGTGTGTATTTGTGTGGCGTGTGTGGCATGTGTGGCATGTGTGGCGT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12			chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36314370	G G	GTGGAGGG others(1617): Show GTGGAGGGAGTGTGAAGGGTGTGTGTGTGCATGCTGTTTGTGTGTGTATG TGTAGTGTGTGTGTGGTGTGTGTGTGGTATGTGTATGTGTGTGTGGTATG TATGGTGTGTGTATGGTGTGTGGTGTGTATGGAGTGTGTGTGTGTATGGT GTGTGTGGTGTGTAGGATATGTGGTGTGTATGGTGTGTGGTATGTGTGAT GTGTATGTGGTGTGTGTGAGGTATCTATTTGTGGTGTGTGTGGAGTGTAT GGTGTTTGTAGTGTGTGCGTGTCGTGTATATGTGGTGTGTGTGTGCTGCA TGGTGTGTGCTGTGTGTGTAGTGTGTATATGGTGTGTAGAGGTGTATGGT ATGTATGTATGGTGTGTGTGTTTATGTGGCATGTGTGTTGTGCATGATGT GTGTATGGTGTGTGTGTTTGTGTGGTGTGTGTGTTGTGCATGATGTATGT ATGGTGTGTGTGTGGTGTGTGTGATGTGTGTGGGACTATGGTATGTATGG TGTGTGTGTGTGGTGTGTGGTATGTGTGTGTGAGGCATGTATGGTGTGTA TGTGGTGTGTGGTGTGGGTGTGGATGTATGATATGCATGGTGTGTGTGGC ATGTGTGGTGTGTGTGTGGTATGTATGTGTGGTGTCTGTGTGACATGTAT GGTGTGTGTGGTGTGTGTGTGGTATGTGGTATGTATGTAGGGTGTGTGAT GTGTGTGTGTTGTGTTTGGTGTGTGTGTGCTGTGTGTGGTGTGTGTTTGG TATCTGTTGTGTGTGTGGTGTGTGTGTGGTATGAGTTTGGTATCTGTTGT GTGTGTGGTATGTATGCTGTTTGGTATGTGCATGTGGTGTGTATGGTGTG TGTGGTATCTGTATCTGTGTGGTGTGTATGTGATCTGTGTGGTGTATGTG GCGTGTGTGATGTGTGGTGTGTGTGGTATCTGTATGGTGTGTGTGGTATG CATGTGTGGTGTGTGTGGGGTGTGTGTGTGATGTGTGTGGTGTGTGTGAG GGGTATCTTTGTGACATCTGTGTTGTGTGTATGTGATCTGTGTGGTGTAT GTGGTATGTGTGGTGTGTGTGTGGTATCTGTATGATGTGTGTGGTATGCA TGTGTGGTGTGTGTGGGGTGTGTGCATGATGTGTGTGGTGTGTGTGAGGG GTAGGGGTATCTTTGTGGCATCTGTGTGGTGTGTGTGGCATCTGTGTGGT GTGTGGTGTGTGTGTGGTATGTATGGTGTGTGTGTGGTATCTGTGTGGCA TGTGGCATGTGTGTGGTGTGTATGGTACGTATTGTGTATGGTGTGTGTGA TGTGTATGTGTGTTTGGTGGTTCTGTGTGTGGTGTGTATGTGGTATCTGT GTGGCGTGTGTGGTGTGTGTGTGGCATCTGTGTGGTTTGTGGTGTGCGTG TGGCATGTGTATGGTGCGTATGTGGTGTGTGTATGTTGTGTGTTTGGTGG TTGTGTGTGGTGTGTGTGTGGTGTGTTTGTGTGTTATGATGTGTGTGAGG TATCTGTGTGGCATGTGTGTGGTGTGTGTGTGATATCAGTGTGGCATGTG TGGTGTGGGGTATGTATGGTGTGTGTGGTGTGTGTATTTGTGTGGCGTGT GTGGCATGTGTGGCATGTGTGGCGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	144	0.0069	1624	c.-30 others(1643): Show c.-304+7858_-304+7859insTGGAGGGAGTGTGAAGGGTGTGTGTG TGCATGCTGTTTGTGTGTGTATGTGTAGTGTGTGTGTGGTGTGTGTGTGG TATGTGTATGTGTGTGTGGTATGTATGGTGTGTGTATGGTGTGTGGTGTG TATGGAGTGTGTGTGTGTATGGTGTGTGTGGTGTGTAGGATATGTGGTGT GTATGGTGTGTGGTATGTGTGATGTGTATGTGGTGTGTGTGAGGTATCTA TTTGTGGTGTGTGTGGAGTGTATGGTGTTTGTAGTGTGTGCGTGTCGTGT ATATGTGGTGTGTGTGTGCTGCATGGTGTGTGCTGTGTGTGTAGTGTGTA TATGGTGTGTAGAGGTGTATGGTATGTATGTATGGTGTGTGTGTTTATGT GGCATGTGTGTTGTGCATGATGTGTGTATGGTGTGTGTGTTTGTGTGGTG TGTGTGTTGTGCATGATGTATGTATGGTGTGTGTGTGGTGTGTGTGATGT GTGTGGGACTATGGTATGTATGGTGTGTGTGTGTGGTGTGTGGTATGTGT GTGTGAGGCATGTATGGTGTGTATGTGGTGTGTGGTGTGGGTGTGGATGT ATGATATGCATGGTGTGTGTGGCATGTGTGGTGTGTGTGTGGTATGTATG TGTGGTGTCTGTGTGACATGTATGGTGTGTGTGGTGTGTGTGTGGTATGT GGTATGTATGTAGGGTGTGTGATGTGTGTGTGTTGTGTTTGGTGTGTGTG TGCTGTGTGTGGTGTGTGTTTGGTATCTGTTGTGTGTGTGGTGTGTGTGT GGTATGAGTTTGGTATCTGTTGTGTGTGTGGTATGTATGCTGTTTGGTAT GTGCATGTGGTGTGTATGGTGTGTGTGGTATCTGTATCTGTGTGGTGTGT ATGTGATCTGTGTGGTGTATGTGGCGTGTGTGATGTGTGGTGTGTGTGGT ATCTGTATGGTGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGT GTGATGTGTGTGGTGTGTGTGAGGGGTATCTTTGTGACATCTGTGTTGTG TGTATGTGATCTGTGTGGTGTATGTGGTATGTGTGGTGTGTGTGTGGTAT CTGTATGATGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGCAT GATGTGTGTGGTGTGTGTGAGGGGTAGGGGTATCTTTGTGGCATCTGTGT GGTGTGTGTGGCATCTGTGTGGTGTGTGGTGTGTGTGTGGTATGTATGGT GTGTGTGTGGTATCTGTGTGGCATGTGGCATGTGTGTGGTGTGTATGGTA CGTATTGTGTATGGTGTGTGTGATGTGTATGTGTGTTTGGTGGTTCTGTG TGTGGTGTGTATGTGGTATCTGTGTGGCGTGTGTGGTGTGTGTGTGGCAT CTGTGTGGTTTGTGGTGTGCGTGTGGCATGTGTATGGTGCGTATGTGGTG TGTGTATGTTGTGTGTTTGGTGGTTGTGTGTGGTGTGTGTGTGGTGTGTT TGTGTGTTATGATGTGTGTGAGGTATCTGTGTGGCATGTGTGTGGTGTGT GTGTGATATCAGTGTGGCATGTGTGGTGTGGGGTATGTATGGTGTGTGTG GTGTGTGTATTTGTGTGGCGTGTGTGGCATGTGTGGCATGTGTGGCGT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12			chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36314370	G G	GTGGAGGG others(1617): Show GTGGAGGGAGTGTGAAGGGTGTGTGTGTGCATGCTGTTTGTGTGTGTATG TGTAGTGTGTGTGTGGTGTGTGTGTGGTATGTGTATGTGTGTGTGGTATG TATGGTGTGTGTATGGTGTGTGGTGTGTATGGAGTGTGTGTGTGTATGGT GTGTGTGGTGTGTAGGATATGTGGTGTGTATGGTGTGTGGTATGTGTGAT GTGTATGTGGTGTGTGTGAGGTATCTATTTGTGGTGTGTGTGGAGTGTAT GGTGTTTGTAGTGTGTGCGTGTCGTGTATATGTGGTGTGTGTGTGCTGCA TGGTGTGTGCTGTGTGTGTAGTGTGTATATGGTGTGTAGAGGTGTATGGT ATGTATGTATGGTGTGTGTGTTTATGTGGCATGTGTGTTGTGCATGATGT GTGTATGGTGTGTGTGTTTGTGTGGTGTGTGTGTTGTGCATGATGTATGT ATGGTGTGTGTGTGGTGTGTGTGATGTGTGTGGGACTATGGTATGTATGG TGTGTGTGTGTGGTGTGTGGTATGTGTGTGTGAGGCATGTATGGTGTGTA TGTGGTGTGTGGTGTGGGTGTGGATGTATGATATGCATGGTGTGTGTGGC ATGTGTGGTGTGTGTGTGGTATGTATGTGTGGTGTCTGTGTGACATGTAT GGTGTGTGTGGTGTGTGTGTGGTATGTGGTATGTATGTAGGGTGTGTGAT GTGTGTGTGTTGTGTTTGGTGTGTGTGTGCTGTGTGTGGTGTGTGTTTGG TATCTGTTGTGTGTGTGGTGTGTGTGTGGTATGAGTTTGGTATCTGTTGT GTGTGTGGTATGTATGCTGTTTGGTATGTGCATGTGGTGTGTATGGTGTG TGTGGTATCTGTATCTGTGTGGTGTGTATGTGATCTGTGTGGTGTATGTG GCGTGTGTGATGTGTGGTGTGTGTGGTATCTGTATGGTGTGTGTGGTATG CATGTGTGGTGTGTGTGGGGTGTGTGTGTGATGTGTGTGGTGTGTGTGAG GGGTATCTTTGTGACATCTGTGTTGTGTGTATGTGATCTGTGTGGTGTAT GTGGTGTGTGTGGTGTGTGTGTGGTATCTGTATGATGTGTGTGGTATGCA TGTGTGGTGTGTGTGGGGTGTGTGCATGATGTGTGTGGTGTGTGTGAGGG GTAGGGGTATCTTTGTGGCATCTGTGTGGTGTGTGTGGCATCTGTGTGGT GTGTGGTGTGTGTGTGGTATGTATGGTGTGTGTGTGGTATCTGTGTGGCA TGTGGCATGTGTGTGGTGTGTATGGTACATATTGTGTATGGTGTGTGTGA TGTGTATGTGTGTTTGGTGGTTCTGTGTGTGGTGTGTATGTGGTATCTGT GTGGCGTGTGTGGTGTGTGTGTGGCATCTGTGTGGTTTGTGGTGTGCGTG TGGCATGTGTATGGTGCGTATGTGGTGTGTGTATGTTGTGTGTTTGGTGG TTGTGTGTGGTGTGTGTGTGGTGTGTTTGTGTGTTATGATGTGTGTGAGG TATCTGTGTGGCATGTGTGTGGTGTGTGTGTGATATCAGTGTGGCATGTG TGGTGTGGGGTATGTATGGTGTGTGTGGTGTGTGTATTTGTGTGGCGTGT GTGGCATGTGTGGCATGTGTGGCGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp2 NA19240.hp1 HG02970.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123	3	144	0.0208	1624	c.-30 others(1643): Show c.-304+7858_-304+7859insTGGAGGGAGTGTGAAGGGTGTGTGTG TGCATGCTGTTTGTGTGTGTATGTGTAGTGTGTGTGTGGTGTGTGTGTGG TATGTGTATGTGTGTGTGGTATGTATGGTGTGTGTATGGTGTGTGGTGTG TATGGAGTGTGTGTGTGTATGGTGTGTGTGGTGTGTAGGATATGTGGTGT GTATGGTGTGTGGTATGTGTGATGTGTATGTGGTGTGTGTGAGGTATCTA TTTGTGGTGTGTGTGGAGTGTATGGTGTTTGTAGTGTGTGCGTGTCGTGT ATATGTGGTGTGTGTGTGCTGCATGGTGTGTGCTGTGTGTGTAGTGTGTA TATGGTGTGTAGAGGTGTATGGTATGTATGTATGGTGTGTGTGTTTATGT GGCATGTGTGTTGTGCATGATGTGTGTATGGTGTGTGTGTTTGTGTGGTG TGTGTGTTGTGCATGATGTATGTATGGTGTGTGTGTGGTGTGTGTGATGT GTGTGGGACTATGGTATGTATGGTGTGTGTGTGTGGTGTGTGGTATGTGT GTGTGAGGCATGTATGGTGTGTATGTGGTGTGTGGTGTGGGTGTGGATGT ATGATATGCATGGTGTGTGTGGCATGTGTGGTGTGTGTGTGGTATGTATG TGTGGTGTCTGTGTGACATGTATGGTGTGTGTGGTGTGTGTGTGGTATGT GGTATGTATGTAGGGTGTGTGATGTGTGTGTGTTGTGTTTGGTGTGTGTG TGCTGTGTGTGGTGTGTGTTTGGTATCTGTTGTGTGTGTGGTGTGTGTGT GGTATGAGTTTGGTATCTGTTGTGTGTGTGGTATGTATGCTGTTTGGTAT GTGCATGTGGTGTGTATGGTGTGTGTGGTATCTGTATCTGTGTGGTGTGT ATGTGATCTGTGTGGTGTATGTGGCGTGTGTGATGTGTGGTGTGTGTGGT ATCTGTATGGTGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGT GTGATGTGTGTGGTGTGTGTGAGGGGTATCTTTGTGACATCTGTGTTGTG TGTATGTGATCTGTGTGGTGTATGTGGTGTGTGTGGTGTGTGTGTGGTAT CTGTATGATGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGCAT GATGTGTGTGGTGTGTGTGAGGGGTAGGGGTATCTTTGTGGCATCTGTGT GGTGTGTGTGGCATCTGTGTGGTGTGTGGTGTGTGTGTGGTATGTATGGT GTGTGTGTGGTATCTGTGTGGCATGTGGCATGTGTGTGGTGTGTATGGTA CATATTGTGTATGGTGTGTGTGATGTGTATGTGTGTTTGGTGGTTCTGTG TGTGGTGTGTATGTGGTATCTGTGTGGCGTGTGTGGTGTGTGTGTGGCAT CTGTGTGGTTTGTGGTGTGCGTGTGGCATGTGTATGGTGCGTATGTGGTG TGTGTATGTTGTGTGTTTGGTGGTTGTGTGTGGTGTGTGTGTGGTGTGTT TGTGTGTTATGATGTGTGTGAGGTATCTGTGTGGCATGTGTGTGGTGTGT GTGTGATATCAGTGTGGCATGTGTGGTGTGGGGTATGTATGGTGTGTGTG GTGTGTGTATTTGTGTGGCGTGTGTGGCATGTGTGGCATGTGTGGCGT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12			chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36314370	G G	GTGGAGGG others(1617): Show GTGGAGGGAGTGTGAAGGGTGTGTGTGTGCATGCTGTTTGTGTGTGTATG TGTAGTGTGTGTGTGGTGTGTGTGTGGTATGTGTATGTGTGTGTGGTATG TATGGTGTGTGTATGGTGTGTGGTGTGTATGGAGTGTGTGTGTGTATGGT GTGTGTGGTGTGTAGGATATGTGGTGTGTATGGTGTGTGGTATGTGTGAT GTGTATGTGGTGTGTGTGAGGTATCTATTTGTGGTGTGTGTGGAGTGTAT GGTGTTTGTAGTGTGTGCGTGTCGTGTATATGTGGTGTGTGTGTGCTGCA TGGTGTGTGCTGTGTGTGTAGTGTGTATATGGTGTGTAGAGGTGTATGGT ATGTATGTATGGTGTGTGTGTTTATGTGGCATGTGTGTTGTGCATGATGT GTGTATGGTGTGTGTGTTTGTGTGGTGTGTGTGTTGTGCATGATGTATGT ATGGTGTGTGTGTGGTGTGTGTGATGTGTGTGGGACTATGGTATGTATGG TGTGTGTGTGTGGTGTGTGGTATGTGTGTGTGAGGCATGTATGGTGTGTA TGTGGTGTGTGGTGTGGGTGTGGATGTATGATATGCATGGTGTGTGTGGC ATGTGTGGTGTGTGTGTGGTATGTATGTGTGGTGTCTGTGTGACATGTAT GGTGTGTGTGGTGTGTGTGTGGTATGTGGTATGTATGTAGGGTGTGTGAT GTGTGTGTGTTGTGTTTGGTGTGTGTGTGCTGTGTGTGGTGTGTGTTTGG TATCTGTTGTGTGTGTGGTGTGTGTGTGGTATGAGTTTGGTATCTGTTGT GTGTGTGGTATGTATGCTGTTTGGTATGTGCATGTGGTGTGTATGGTGTG TGTGGTATCTGTATCTGTGTGGTGTGTATGTGATCTGTGTGGTGTATGTG GCGTGTGTGATGTGTGGTGTGTGTGGTATCTGTATGGTGTGTGTGGTATG CATGTGTGGTGTGTGTGGGGTGTGTGTGTGATGTGTGTGGTGTGTGTGAG GGGTATCTTTGTGACATCTGTGTTGTGTGTATGTGATCTGTGTGGTGTAT GTGGTGTGTGTGGTGTGTGTGTGGTATCTGTATGATGTGTGTGGTATGCA TGTGTGGTGTGTGTGGGGTGTGTGCATGATGTGTGTGGTGTGTGTGAGGG GTAGGGGTATCTTTGTGGCATCTGTGTGGTGTGTGTGGCATCTGTGTGGT GTGTGGTGTGTGTGTGGTATGTATGGTGTGTGTGTGGTATCTGTGTGGCA TGTGGCATGTGTGTGGTGTGTATGGTACGTATTGTGTATGGTGTGTGTGA TGTGTATGTGTGTTTGGTGGTTCTGTGTGTGGTGTGTATGTGGTATCTGT GTGGCGTGTGTGGTGTGTGTGTGGCATCTGTGTGGTTTGTGGTGTGCGTG TGGCATGTGTATGGTGCGTATGTGGTGTGTGTATGTTGTGTGTTTGGTGG TTGTGTGTGGTGTGTGTGTGGTGTGTTTGTGTCTTATGATGTGTGTGAGG TATCTGTGTGGCATGTGTGTGGTGTGTGTGTGATATCAGTGTGGCATGTG TGGTGTGGGGTATGTATGGTGTGTGTGGTGTGTGTATTTGTGTGGCGTGT GTGGCATGTGTGGCATGTGTGGCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0049 a0001c0010t0002g0049	1	144	0.0069	1624	c.-30 others(1643): Show c.-304+7858_-304+7859insTGGAGGGAGTGTGAAGGGTGTGTGTG TGCATGCTGTTTGTGTGTGTATGTGTAGTGTGTGTGTGGTGTGTGTGTGG TATGTGTATGTGTGTGTGGTATGTATGGTGTGTGTATGGTGTGTGGTGTG TATGGAGTGTGTGTGTGTATGGTGTGTGTGGTGTGTAGGATATGTGGTGT GTATGGTGTGTGGTATGTGTGATGTGTATGTGGTGTGTGTGAGGTATCTA TTTGTGGTGTGTGTGGAGTGTATGGTGTTTGTAGTGTGTGCGTGTCGTGT ATATGTGGTGTGTGTGTGCTGCATGGTGTGTGCTGTGTGTGTAGTGTGTA TATGGTGTGTAGAGGTGTATGGTATGTATGTATGGTGTGTGTGTTTATGT GGCATGTGTGTTGTGCATGATGTGTGTATGGTGTGTGTGTTTGTGTGGTG TGTGTGTTGTGCATGATGTATGTATGGTGTGTGTGTGGTGTGTGTGATGT GTGTGGGACTATGGTATGTATGGTGTGTGTGTGTGGTGTGTGGTATGTGT GTGTGAGGCATGTATGGTGTGTATGTGGTGTGTGGTGTGGGTGTGGATGT ATGATATGCATGGTGTGTGTGGCATGTGTGGTGTGTGTGTGGTATGTATG TGTGGTGTCTGTGTGACATGTATGGTGTGTGTGGTGTGTGTGTGGTATGT GGTATGTATGTAGGGTGTGTGATGTGTGTGTGTTGTGTTTGGTGTGTGTG TGCTGTGTGTGGTGTGTGTTTGGTATCTGTTGTGTGTGTGGTGTGTGTGT GGTATGAGTTTGGTATCTGTTGTGTGTGTGGTATGTATGCTGTTTGGTAT GTGCATGTGGTGTGTATGGTGTGTGTGGTATCTGTATCTGTGTGGTGTGT ATGTGATCTGTGTGGTGTATGTGGCGTGTGTGATGTGTGGTGTGTGTGGT ATCTGTATGGTGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGT GTGATGTGTGTGGTGTGTGTGAGGGGTATCTTTGTGACATCTGTGTTGTG TGTATGTGATCTGTGTGGTGTATGTGGTGTGTGTGGTGTGTGTGTGGTAT CTGTATGATGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGCAT GATGTGTGTGGTGTGTGTGAGGGGTAGGGGTATCTTTGTGGCATCTGTGT GGTGTGTGTGGCATCTGTGTGGTGTGTGGTGTGTGTGTGGTATGTATGGT GTGTGTGTGGTATCTGTGTGGCATGTGGCATGTGTGTGGTGTGTATGGTA CGTATTGTGTATGGTGTGTGTGATGTGTATGTGTGTTTGGTGGTTCTGTG TGTGGTGTGTATGTGGTATCTGTGTGGCGTGTGTGGTGTGTGTGTGGCAT CTGTGTGGTTTGTGGTGTGCGTGTGGCATGTGTATGGTGCGTATGTGGTG TGTGTATGTTGTGTGTTTGGTGGTTGTGTGTGGTGTGTGTGTGGTGTGTT TGTGTCTTATGATGTGTGTGAGGTATCTGTGTGGCATGTGTGTGGTGTGT GTGTGATATCAGTGTGGCATGTGTGGTGTGGGGTATGTATGGTGTGTGTG GTGTGTGTATTTGTGTGGCGTGTGTGGCATGTGTGGCATGTGTGGCGT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12			chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36314370	G G	GTGGAGGG others(1617): Show GTGGAGGGAGTGTGAAGGGTGTGTGTGTGCATGCTGTTTGTGTGTGTATG TGTAGTGTGTGTGTGGTGTGTGTGTGGTATGTGTATGTGTGTGTGGTATG TATGGTGTGTGTATGGTGTGTGGTGTGTATGGAGTGTGTGTGTGTATGGT GTGTGTGGTGTGTAGGATATGTGGTGTGTATGGTGTGTGGTATGTGTGAT GTGTATGTGGTGTGTGTGAGGTATCTATTTGTGGTGTGTGTGGAGTGTAT GGTGTTTGTAGTGTGTGCGTGTCGTGTATATGTGGTGTGTGTGTGCTGCA TGGTGTGTGCTGTGTGTGTAGTGTGTATATGGTGTGTAGAGGTGTATGGT ATGTATGTATGGTGTGTGTGTTTATGTGGCATGTGTGTTGTGCATGATGT GTGTATGGTGTGTGTGTTTGTGTGGTGTGTGTGTTGTGCATGATGTATGT ATGGTGTGTGTGTGGTGTGTGTGATGTGTGTGGGACTATGGTATGTATGG TGTGTGTGTGTGGTGTGTGGTATGTGTGTGTGAGGCATGTATGGTGTGTA TGTGGTGTGTGGTGTGGGTGTGGATGTATGATATGCATGGTGTGTGTGGC ATGTGTGGTGTGTGTGTGGTATGTATGTGTGGTGTCTGTGTGACATGTAT GGTGTGTGTGGTGTGTGTGTGGTATGTGGTATGTATGTAGGGTGTGTGAT GTGTGTGTGTTGTGTTTGGTGTGTGTGTGCTGTGTGTGGTGTGTGTTTGG TATCTGTTGTGTGTGTGGTGTGTGTGTGGTATGAGTTTGGTATCTGTTGT GTGTGTGGTATGTATGCTGTTTGGTATGTGCATGTGGTGTGTATGGTGTG TGTGGTATCTGTATCTGTGTGGTGTGTATGTGATCTGTGTGGTGTATGTG GCGTGTGTGATGTGTGGTGTGTGTGGTATCTGTATGGTGTGTGTGGTATG CATGTGTGGTGTGTGTGGGGTGTGTGTGTGATGTGTGTGGTGTGTGTGAG GGGTATCTTTGTGACATCTGTGTTGTGTGTATGTGATCTGTGTGGTGTAT GTGGTGTGTGTGGTGTGTGTGTGGTATCTGTATGATGTGTGTGGTATGCA TGTGTGGTGTGTGTGGGGTGTGTGCATGATGTGTGTGGTGTGTGTGAGGG GTAGGGGTATCTTTGTGGCATCTGTGTGGTGTGTGTGGCATCTGTGTGGT GTGTGGTGTGTGTGTGGTATGTATGGTGTGTGTGTGGTATCTGTGTGGCA TGTGGCATGTGTGTGGTGTGTATGGTACGTATTGTGTATGGTGTGTGTGA TGTGTATGTGTGTTTGGTGGTTCTGTGTGTGGTGTGTATGTGGTATCTGT GTGGCGTGTGTGGTGTGTGTGTGGCATCTGTGTGGTTTGTGGTGTGCGTG TGGCATGTGTATGGTGCGTATGTGGTGTGTGTATGTTGTGTGTTTGGTGG TTGTGTGTGGTGTGTGTGTGGTGTGTTTGTGTGTTATGATGTGTGTGAGG TATCTGTGTGGCATGTGTGTGGTGTGTGTGTGATATCAGTGTGGCATGTG TGGTGTGGGGTATGTATGGTGTGTGTGGTGTGTGTATTTGTGTGGCGTGT GTGGCATGTGTGGCATGTGTGGCGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00609.hp2 others(60): Show HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01261.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02056.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19005.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0013 a0003c0004 a0004c0007 a0006c0008 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0002t0004 a0001c0006t0002 a0002c0003t0002 a0002c0003t0007 a0002c0013t0002 a0003c0004t0006 a0004c0007t0029 a0006c0008t0027 a0007c0012t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 others(60): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0002g0056 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0142 a0001c0001t0003g0023 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0109 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0144 a0001c0001t0006g0068 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0077 a0001c0001t0009g0062 a0001c0001t0010g0060 a0001c0001t0011g0007 a0001c0001t0011g0063 a0001c0001t0014g0108 a0001c0001t0020g0078 a0001c0001t0022g0071 a0001c0001t0024g0066 a0001c0001t0025g0072 a0001c0002t0004g0065 a0001c0002t0004g0073 a0001c0002t0004g0096 a0001c0002t0004g0143 a0001c0006t0002g0006 a0002c0003t0002g0067 a0002c0003t0002g0090 a0002c0003t0007g0101 a0002c0013t0002g0086 a0003c0004t0006g0021 a0004c0007t0029g0050 a0006c0008t0027g0070 a0007c0012t0001g0080	63	144	0.4375	1624	c.-30 others(1643): Show c.-304+7858_-304+7859insTGGAGGGAGTGTGAAGGGTGTGTGTG TGCATGCTGTTTGTGTGTGTATGTGTAGTGTGTGTGTGGTGTGTGTGTGG TATGTGTATGTGTGTGTGGTATGTATGGTGTGTGTATGGTGTGTGGTGTG TATGGAGTGTGTGTGTGTATGGTGTGTGTGGTGTGTAGGATATGTGGTGT GTATGGTGTGTGGTATGTGTGATGTGTATGTGGTGTGTGTGAGGTATCTA TTTGTGGTGTGTGTGGAGTGTATGGTGTTTGTAGTGTGTGCGTGTCGTGT ATATGTGGTGTGTGTGTGCTGCATGGTGTGTGCTGTGTGTGTAGTGTGTA TATGGTGTGTAGAGGTGTATGGTATGTATGTATGGTGTGTGTGTTTATGT GGCATGTGTGTTGTGCATGATGTGTGTATGGTGTGTGTGTTTGTGTGGTG TGTGTGTTGTGCATGATGTATGTATGGTGTGTGTGTGGTGTGTGTGATGT GTGTGGGACTATGGTATGTATGGTGTGTGTGTGTGGTGTGTGGTATGTGT GTGTGAGGCATGTATGGTGTGTATGTGGTGTGTGGTGTGGGTGTGGATGT ATGATATGCATGGTGTGTGTGGCATGTGTGGTGTGTGTGTGGTATGTATG TGTGGTGTCTGTGTGACATGTATGGTGTGTGTGGTGTGTGTGTGGTATGT GGTATGTATGTAGGGTGTGTGATGTGTGTGTGTTGTGTTTGGTGTGTGTG TGCTGTGTGTGGTGTGTGTTTGGTATCTGTTGTGTGTGTGGTGTGTGTGT GGTATGAGTTTGGTATCTGTTGTGTGTGTGGTATGTATGCTGTTTGGTAT GTGCATGTGGTGTGTATGGTGTGTGTGGTATCTGTATCTGTGTGGTGTGT ATGTGATCTGTGTGGTGTATGTGGCGTGTGTGATGTGTGGTGTGTGTGGT ATCTGTATGGTGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGT GTGATGTGTGTGGTGTGTGTGAGGGGTATCTTTGTGACATCTGTGTTGTG TGTATGTGATCTGTGTGGTGTATGTGGTGTGTGTGGTGTGTGTGTGGTAT CTGTATGATGTGTGTGGTATGCATGTGTGGTGTGTGTGGGGTGTGTGCAT GATGTGTGTGGTGTGTGTGAGGGGTAGGGGTATCTTTGTGGCATCTGTGT GGTGTGTGTGGCATCTGTGTGGTGTGTGGTGTGTGTGTGGTATGTATGGT GTGTGTGTGGTATCTGTGTGGCATGTGGCATGTGTGTGGTGTGTATGGTA CGTATTGTGTATGGTGTGTGTGATGTGTATGTGTGTTTGGTGGTTCTGTG TGTGGTGTGTATGTGGTATCTGTGTGGCGTGTGTGGTGTGTGTGTGGCAT CTGTGTGGTTTGTGGTGTGCGTGTGGCATGTGTATGGTGCGTATGTGGTG TGTGTATGTTGTGTGTTTGGTGGTTGTGTGTGGTGTGTGTGTGGTGTGTT TGTGTGTTATGATGTGTGTGAGGTATCTGTGTGGCATGTGTGTGGTGTGT GTGTGATATCAGTGTGGCATGTGTGGTGTGGGGTATGTATGGTGTGTGTG GTGTGTGTATTTGTGTGGCGTGTGTGGCATGTGTGGCATGTGTGGCGT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12			chr20	TogoVar
FOXP1_chr3_70949708_71588728	71435561	A A	AAGGAGGG others(1617): Show AAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGT GACGGAGGAAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGA AGGGACGGAGGGAAGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGG ACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGG AAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAAAAAGG AGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAG GGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGG AGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAG GAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGG AGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAG GAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGG AGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAG GAAAAAAGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0040 a0001c0001t0034g0040	1	96	0.0104	1624	c.-16 others(1645): Show c.-168+57864_-168+57865insCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCTTTTTT CCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCC TCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTT CCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTT CCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTC CCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCC TCCTTTTTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTC CGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCT TCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTC CGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTC CCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCTTCCCTCCGTCCC TTCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTTCCTCCGT CACTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGT CCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTC CGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(1617): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGGTGGGGGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCGTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGAGG GTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGC CACCCCGTCCGGGACGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCAGCCCGGCCAGCC GCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTG GGGGGGTCGGCCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGC CCAGACAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	256	0.0039	1624	c.241 others(1643): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCTGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGGCCGACCCCCCC ACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCG GCTGGCCGGGCTGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCGTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC CTCCCCACCTCCCTCCCGGACGGCACGGCTGGCCACGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGACC CCCCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(1617): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGGTGGGGGGGGGG TCAGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCGTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGAGGG TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGC CACCCCGTCCGGGACGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCAGCCCGGCCAGCC GCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCGGGCCAG CCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGT GGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCG CCCAGACAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	256	0.0039	1624	c.241 others(1643): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCTGGGC GGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCA CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCG GCTGGCCGGGCTGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCGTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGAC CCTCCCCACCTCCCTCCCGGACGGCACGGCTGGCCACGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSR1_chr8_16102881_16197651	16189597	A A	ATATATAT others(1617): Show ATATATATAAAATCTTATTTTATATATATTTGATATATATTTTTTATATA TTTTATATATATATAAAACCTTATTTTATATATATTTGATATATATATAA AATCTTATTTTATATATATTTGATATATATTTTATATATATATAAAATCT TACTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTATATA TATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTA TTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATATAATAAGATTTTATATATATTTTATATATATATAAAATAA GATTTTATATATATTTTATATATATAAAATAAGATTTTATATATATTTTA TATATATAAAATAAGATTTTATATATATTTTATATATATAAAATAAGATT TTATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA TTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATA TAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTT ATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATATTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAA AATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATAT AAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT ATAAAATCTTATTTTATATATATTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0329 a0001c0001t0050g0329	1	330	0.0030	1624	c.-5+ others(1639): Show c.-5+3000_-5+3001insAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATAT ATATAAATATATATATATAAAATATATATAAAATAAGATTTTATATATAT ATAAAATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAATATTT TATATATATTTTATATATATATAAAATCTTATTTTATATATATAAAATCT TATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATAAAA TATATATAAAATCTTATTTTATATATATAAAATATATATAAAATCTTATT TTATATATATATAAAATATATATAAAATCTTATTATATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAA TATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAT AAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAAT AAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATAT AAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATT TTATATATATATAAAATATATATCAAATATATATAAAATAAGATTTTATA TATATATCAAATATATATAAAATAAGGTTTTATATATATATAAAATATAT AAAAAATATATATCAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NXN_chr17_794310_984776	841651	C C	CGCATCTC others(1617): Show CGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCCCCCTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGA CCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCAT CTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGGCG AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGG CGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAG GTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGG CAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCCCC TGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACCCACGGGCAGGTCCCCCCTGACCACAGCGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGT CCACCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCTGACC ACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAG CAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCAT CTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACAGGCG AGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCAC CCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGC GCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTC CCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA CACCCACAGGCAGGTCCCCCTGACCACAGCGCATCTCACACGGGCGAGCA GGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGAGCA TCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGG CGAGCAGGTCCACCCTGACCACGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	242	0.0041	1624	c.361 others(1643): Show c.361-15574_361-15573insTCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGACCTGCCTGTGGGTGT GAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTC GCCTGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCTGTG GTCAGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCCCGTGGGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAG GGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGC CCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGC CGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGA TGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGGGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(1617): Show AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGCT GGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC CTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG GGGGGCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCG GGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCAC CAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0011 a0013c0028t0011	a0013c0028t0011g0283 a0013c0028t0011g0283	1	340	0.0029	1624	c.227 others(1641): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCA GCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCTGTCCTCAC CAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGCTGGGGGGCGGGGGGGCTGTCCTCACCAGCCT TGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCCTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCG GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCA GCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTG TCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RPH3AL_chr17_207389_357807	272995	T T	TGAGACCC others(1617): Show TGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGG GTGACTTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAG GGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGCGGGTGA CTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGA GGGCGACTTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTG AGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACTTC AGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGT GACTTCAGGGTGAGACCCCGGCGAGGGTGACTTCAGGGAGAGACCCCGGC GAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGG AGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACT TCAGGGTGAGACCCCGGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGG GCGACTTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAG GAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGA CTTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GGGTGACGTCAGGGTGAGACCCCGGCGAGGGTGACTTCAGGGAGAGACCC CAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTC AGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGC TACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGC GAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGTGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGG AGAGACCCCAGCGAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGAG ACCCCAGCGAGGGTGACGTCAGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0106 a0001c0001t0014g0106	1	133	0.0075	1624	c.438 others(1641): Show c.438+8772_438+8773insTCCCTGACGTCACCCTCGCTGGGGTCTC TTCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCACCCTGACGTAGCCCTCGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCACCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCT GGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTAGCC CTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGAC GTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTC CCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGG TCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCTGACGTCACCCTCG CTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGAAGTCA CCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTG ACGTCGCCCTCGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCGCCCT CGCTGGGGTCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCTGAAGT CACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCC GGGGTCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCTGAAGTCACC CTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGAA GTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCAC CCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGG TCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCGCCCTCG CTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCA CCCGCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTG ACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCT CGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT CACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RUFY1_chr5_179545554_179615012	179594578	A A	AGTGAAAT others(1617): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCGCCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTA CAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGATACG GAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTGATC CACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGC CCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAATATGCT ATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTAATG TCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATTTTT CAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGGCCAGGCTGG AGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTCCCAGGCTCA GGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTG CCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCAGC ATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCGCCCGCC TTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCACGTCCCGCC TATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAGGAACACACA GTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAGCTGTACTTA GAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACCCCTCATTTG CTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAATGGGAAAAG TGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAGATGAACTAG TGGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAGCCTGACCCG ACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGACCTCCCCTC TCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTCAGTTTGTCT TCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCTTGAAAGTGT CACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGGCTCATGCCT GTAATCGTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGA GATTGAGACCATTTTGGCTAACATG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02602.hp2 HG03017.hp2 HG01358.hp2 HG02602.hp2 HG03017.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0013 a0001c0004 a0005c0013	a0001c0004t0003 a0005c0013t0003 a0001c0004t0003 a0005c0013t0003	a0001c0004t0003g0175 a0001c0004t0003g0190 a0005c0013t0003g0185 a0001c0004t0003g0175 a0001c0004t0003g0190 a0005c0013t0003g0185	3	376	0.0080	1624	c.141 others(1641): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCA CTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTTGTA TTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACT CCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTT TTCTAGCAATATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTT CTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATACAGT CTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGC TGTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTC TGTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAG AGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCA GGTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAG CTACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACAC ACACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGC TAAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGT TGCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTT TCTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGG GCTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAAC ATTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACT CCCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCT TGAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAA TACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCG CGGTGGCTCATGCCTGTAATCGTAGCACTTTGGGAGGCCGAGGCAGGTGG ATCACGAGGTCAGGAGATTGAGACCATTTTGGCTAACATGGTGAAA	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(1617): Show AGTGAAATCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTG GCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCCC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCAC CCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAGAAAAAAAAAAAAA AGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCCTCCTGATAAATCATC TATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGTCACTGCAACCTCCGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAC TACAGGTGCCCACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGATA CGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAACTCCTGACCTCGTGA TCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACT GCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATCTTTTCTAGCAAGATG CTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTGTTCTTTTGTTATTAA TGTCTGATTTTATTACATTAAGGTAAGAGAATACAGTCTGTATGTTATTT TTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGCTGTCGGCCAGGCTGG AGTGCGGTGGCACAATCTTGGCTCACTGCAACCTCTGTCTCCCAGGCTCA GGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCTG CCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAGAGATGGGGTTTCAGC ATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCGCCCGCC TTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTACCACGTCCCGCC TATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACACACACAGGAACACACA GTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGCTAAAAGCTGTACTTA GAGAAAAGCACACAGATGGTGGGTGTGAACCCAGTTGCACCCCTCATTTG CTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTTTCTCAATGGGAAAAG TGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGGGCTCAGATGAACTAG TGGATGTGCCTGGCACATGGGGACAGCTGGCGAACATTGAGCCTGACCCG ACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACTCCCGGACCTCCCCTC TCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCTTGAGTCAGTTTGTCT TCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAATACTCTTGAAAGTGT CACAAAGGTACAAGGTTAACAAATATGGCCGGGCGCGGTGGCTCATGCCT GTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGA GATTGAGACCATTCTGGCTAACATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0196 a0001c0017t0002g0196	1	376	0.0027	1624	c.141 others(1641): Show c.1414-282_1414-281insTCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGGGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTG AGGCAGGAGAATCCCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAG ATCGCGCCACTGCACCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAA AGAAAAAAAAAAAAAAGGAAGAAAAAAATAGGAAGAAAATAGTTTCACCC TCCTGATAAATCATCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT GGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGGT CACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAACTAATTTTTG TATTTTTAGTAGATACGGAGTTTCACCATGTTGGTCAGGATGGTCTCAAA CTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACTGCCCGGCCCATAATTTCCCGTTTTTTAGCTCAATC TTTTCTAGCAAGATGCTATTTGGTTTCCAGATACAAGGTGTTTCTAGCTG TTCTTTTGTTATTAATGTCTGATTTTATTACATTAAGGTAAGAGAATACA GTCTGTATGTTATTTTTCAGGAATTTATTAGGACTTTTGTCGTCAGGCTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCACGC TGTCGGCCAGGCTGGAGTGCGGTGGCACAATCTTGGCTCACTGCAACCTC TGTCTCCCAGGCTCAGGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCATCTGCCACCACGCCTGGCTAAGTTTTGTATTTTTAGTAG AGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCA GGTAATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAG CTACCACGTCCCGCCTATCTTCAGGCTTTTTAAGGGTGTCTCTTGTACAC ACACAGGAACACACAGTGCCCCCTCCTGGCCACTCTGTGTCTGTCATGGC TAAAAGCTGTACTTAGAGAAAAGCACACAGATGGTGGGTGTGAACCCAGT TGCACCCCTCATTTGCTCTTCACCTTCATCCAGTCGCTTTCTTCTGAGTT TCTCAATGGGAAAAGTGGGGTGAGAGCATCTTCCTTGAGAACCATTCAGG GCTCAGATGAACTAGTGGATGTGCCTGGCACATGGGGACAGCTGGCGAAC ATTGAGCCTGACCCGACTCTGGAACACGCTGTCAAAAAGGAGCAAAGACT CCCGGACCTCCCCTCTCTACCTTTCCTTCTGTTGACAAAGCTGAGAGCCT TGAGTCAGTTTGTCTTCCAGGGCTCTGGGGAAGAGCAGCAATTGGTAGAA TACTCTTGAAAGTGTCACAAAGGTACAAGGTTAACAAATATGGCCGGGCG CGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGTGG ATCACGAGGTCAGGAGATTGAGACCATTCTGGCTAACATGGTGAAA	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr5	TogoVar

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