Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(1103): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCC TCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACA ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCA CCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTC CCTCCGCCCCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	378	0.0027	1110	c.147 others(1129): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79494731	G G	GGGCACAC others(1103): Show GGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGC ACATGCCCCCCATCAACCTGGTACCCGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTACCCGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGC CCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATG AACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAA CCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGT ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTAC CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCC GCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCCG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCCGCCGGGGG AAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCCGCCGGGGGA AGGCGAGAGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0046 a0001c0008t0046	a0001c0008t0046g0284 a0001c0008t0046g0284	1	322	0.0031	1110	c.278 others(1129): Show c.2782+7810_2782+7811insGAACCTGGTACGGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAG AACGGGCACATGCCCCCCATCAACCTGGTACCCGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTACCCGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGG CACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT GAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA ACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGAC CTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCT GGTACCCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTG GTACCCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGG TGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTA CCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACC GCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCCG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCCGC CGGGGGAAGGCGAGAGCAGGCACACGCCCCCCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(1103): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCT CACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCC CGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCT CCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACC TCCTACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACC CCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG GCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0087 a0001c0007t0005g0087	1	376	0.0027	1110	c.15 others(1121): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCAGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAG AGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(1103): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCT CACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCTG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCC CTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACC TCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTC ACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCT CACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG GCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0023 a0001c0007t0005g0023	1	376	0.0027	1110	c.15 others(1121): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGT GAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(1103): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAG GGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAG AGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAG GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGG GAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGGGG GAGAGGGGGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGG AGGGGGAGAGGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGA AGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGG CGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAG GGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAG AGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAG AGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGG CAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCA AGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGG AGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAG AGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	308	0.0033	1110	c.371 others(1127): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCC TCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCC TCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCC TCCCCCTCTCCCCCTCCTCCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTC CTCCCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCT CCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCT CTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCCT CCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCC CCCTCTCCTTTTCTCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCC TCCCCCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCC TCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCC CCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTC CCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCC CCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCC CCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCC ATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP2R2D_chr10_131896008_131964834	131958285	C C	CCTGTGGA others(1103): Show CCTGTGGAGATGAAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGA AGGGGTGTGCTGATCCCCCGTCTTCCTGTGGAGATGAAGGTGTGTGCTGA TTCCTCATGCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCCCATCCCCC TGTGGGGATGAAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAG GGGTATGCTGATCCCCCGTCCCCCTGTGGAGATGAAGGTGTGTGCTGATC CCCCATCCCCCTGTGGAGATGAAGGGGTATGCTGATCCCCTGTCCCCCTG TGGGGATGAAGGTGTGTGCTGATCTCTTGTCCCCCTGTGGAGATGGAGGT GTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGATGTGTGCTGATCCC CCGTCCTCCTGTGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCCTGTG GAGATGGAGGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAGGTGT GTGCTGATCCCCCGTCCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCCC ATCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCGCCATCCCACTGTGGA GATGAAGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGTGTGT GCTGATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCGCCAT CCCACTGTGGAGATGAAGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGA TGAAGGCGTGTGCTCATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGC TGATCCGCCATCCCACTGTGGAGATGAAGGTGTGTGCTGATCCCCCATCC CCCTGTGGAGATGAAGGTGTGTGCTGATCCCCGGTCCCCCTGTGGAGATG AAGGTGTGTGCTGATCCCCCGTCCTCCTGTGGAGATGAAGGCGTGTGCTG ATCCCCCGTCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCGCCGTCCCC CTGTGGAGATGAAGGCGTGTGCTGATCCGCCATCCCCCTGTGGAGATGAA GGCGTGTGCTCATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGAT CCGCCATCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0057 a0002c0002t0057	a0002c0002t0057g0244 a0002c0002t0057g0244	1	394	0.0025	1110	c.28 others(1121): Show c.2855_*2856insTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGA AGGCGTGTGCTGATCCGCCATCCCACTGTGGAGATGAAGGCGTGTGCTGA TCCCCCATCCCCCTGTGGAGATGAAGGTGTGTGCTGATCCCCCATCCCCC TGTGGAGATGAAGGCGTGTGCTGATCCGCCATCCCACTGTGGAGATGAAG GCGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTCATC CCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCGCCATCCCACTG TGGAGATGAAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGT GTGTGCTGATCCCCGGTCCCCCTGTGGAGATGAAGGTGTGTGCTGATCCC CCGTCCTCCTGTGGAGATGAAGGCGTGTGCTGATCCCCCGTCCCCCTGTG GAGATGAAGGCGTGTGCTGATCCGCCGTCCCCCTGTGGAGATGAAGGCGT GTGCTGATCCGCCATCCCCCTGTGGAGATGAAGGCGTGTGCTCATCCCCC ATCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCGCCATCCCACTGTGGA GATGAAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGGGTGT GCTGATCCCCCGTCTTCCTGTGGAGATGAAGGTGTGTGCTGATTCCTCAT GCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCCCATCCCCCTGTGGGGA TGAAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGGGTATGC TGATCCCCCGTCCCCCTGTGGAGATGAAGGTGTGTGCTGATCCCCCATCC CCCTGTGGAGATGAAGGGGTATGCTGATCCCCTGTCCCCCTGTGGGGATG AAGGTGTGTGCTGATCTCTTGTCCCCCTGTGGAGATGGAGGTGTGTGCTG ATCCCCCATCCCCCTGTGGAGATGAAGATGTGTGCTGATCCCCCGTCCTC CTGTGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCCTGTGGAGATGGA GGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAGGTGTGTGCTGAT CCCCCGTCCCCCTGTGGAGATGGAGG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	2856	INFO_REALIGN_3_PRIME	chr10	TogoVar
RAB40B_chr17_82649973_82703698	82671956	G G	GTAACTCT others(1103): Show GTAACTCTAACACACACACTCACACGCTCCCTGTACCCACTGACACAGCT CACCCCTGTAACTCTAACACACACTCACACGCTCCCTGTACTCACTGACA CACCCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTC ACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACACACTCCC TGTACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACATGCT CTCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACACTC ACATGCTCTCTGAACTCACTGACACACCCCACCCCTGTAACTCTAACACA CACACACGCTCCCTGTACTCACTGACACACCTCACCCCTGTAACTCTAAC ACACACACTCACACGCTCCCTGTACCCACTGACACACCCCACCCCTGTAA CTCTAACACACACACACGCTCCCTGTACTCACTGACACACCTCACCCCTG TAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCCC ACCCCGTAACTCTAACACACAAACTCACATGCTCTCTGTACTCACTGACA CACCTAACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTC ACTGACACACCCCACCCCATAACTCTAACACACAAACTCACATGCTCTCT GTACTCACTGACACACCTAACCCCTGTAACTCTAACACACACACTCACAC GCTCCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAACACACACA CACGCTCCCTGTACTCACTGACACACCTCACCCCTGTAACTCTAACACAC ACACTCACACGCTCCCTGTACTCACTGACACACCCCACCCCGTAACTCTA ACACACAAACTCACATGCTCTCTGTACTCACTGACACACCTAACCCCTGT AACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCTCA CCCCTGTAACTCTAACACACACACTCACACACTCCCTGTACTGACACACC CCACCCCTGTAACTCTAACACACACACTCACATGCTCTCTGTACTGACAC ACCCCACCCCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	338	0.0030	1110	c.143 others(1127): Show c.143-7401_143-7400insTGGGGTGGGGTGTGTCAGTACAGAGAGC ATGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTACAGGG AGTGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTGAG TACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTTAGGTGTGT CAGTGAGTACAGAGAGCATGTGAGTTTGTGTGTTAGAGTTACGGGGTGGG GTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAG GGGTGAGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTA CAGGGGTGGGGTGTGTCAGTGGGTACAGGGAGCGTGTGAGTGTGTGTGTT AGAGTTACAGGGGTTAGGTGTGTCAGTGAGTACAGAGAGCATGTGAGTTT GTGTGTTAGAGTTATGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GAGTGTGTGTGTTAGAGTTACAGGGGTTAGGTGTGTCAGTGAGTACAGAG AGCATGTGAGTTTGTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTGAGT ACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTC AGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGT GTCAGTGGGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGT GAGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTACAGG GGTGGGGTGTGTCAGTGAGTTCAGAGAGCATGTGAGTGTGTGTGTTAGAG TTACAGGGGTGGGGTGTGTCAGTGAGTACAGAGAGCATGTGAGTGTGTGT GTTAGAGTTACAGGGGTGGGGTGTGTCAGTACAGGGAGTGTGTGAGTGTG TGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGG AGCGTGTGAGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTA CAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTA	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82671956	G G	GTAACTCT others(1103): Show GTAACTCTAACACACACACTCACACGCTCCCTGTACCCACTGACACAGCT CACCCCTGTAACTCTAACACACACTCACACGCTCCCTGTACTCACTGACA CACCCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTC ACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACACACTCCC TGTACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACATGCT CTCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACACTC ACATGCTCTCTGAACTCACTGACACACCCCACCCCTGTAACTCTAACACA CACACACGCTCCCTGTACTCACTGACACACCTCACCCCTGTAACTCTAAC ACACACACTCACACGCTCCCTGTACCCACTGACACACCCCACCCCTGTAA CTCTAACACACACACACGCTCCCTGTACTCACTGACACACCTCACCCCTG TAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCCC ACCCCGTAACTCTAACACACAAACTCACATGCTCTCTGTACTCACTGACA CACCTAACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTC ACTGACACACCCCACCCCGTAACTCTAACACACAAACTCACATGCTCTCT GTACTCACTGACACACCTAACCCCTGTAACTCTAACACACACACTCACAC GCTCCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAACACACACA CACGCTCCCTGTACTCACTGACACACCTCACCCCTGTAACTCTAACACAC ACACTCACACGCTCCCTGTACTCACTGACACACCCCACCCCGTAACTCTA ACACACAAACTCACATGCTCTCTGTACTCACTGACACACCTAACCCCTGT AACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCTCA CCCCTGTAACTCTAACACACACACTCACACACTCCCTGTACTGACACACC CCACCCCTGTAACTCTAACACACACACTCACATGCTCTCTGTACTGACAC ACCCCACCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(41): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02717.hp1 HG02895.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA19080.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0021 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0008t0001 a0002c0003t0001	a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0003g0007 others(40): Show a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0003g0007 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0050 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0120 a0001c0001t0003g0132 a0001c0001t0003g0148 a0001c0001t0003g0159 a0001c0001t0003g0168 a0001c0001t0003g0171 a0001c0001t0003g0198 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0221 a0001c0001t0003g0238 a0001c0001t0003g0244 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0299 a0001c0001t0004g0026 a0001c0001t0013g0126 a0001c0001t0013g0146 a0001c0001t0013g0162 a0001c0001t0021g0260 a0001c0001t0021g0265 a0001c0001t0046g0199 a0001c0001t0050g0102 a0001c0001t0051g0066 a0001c0008t0001g0130 a0002c0003t0001g0134	44	338	0.1302	1110	c.143 others(1127): Show c.143-7401_143-7400insTGGGGTGGGGTGTGTCAGTACAGAGAGC ATGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTACAGGG AGTGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTGAG TACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTTAGGTGTGT CAGTGAGTACAGAGAGCATGTGAGTTTGTGTGTTAGAGTTACGGGGTGGG GTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAG GGGTGAGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTA CAGGGGTGGGGTGTGTCAGTGGGTACAGGGAGCGTGTGAGTGTGTGTGTT AGAGTTACAGGGGTTAGGTGTGTCAGTGAGTACAGAGAGCATGTGAGTTT GTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GAGTGTGTGTGTTAGAGTTACAGGGGTTAGGTGTGTCAGTGAGTACAGAG AGCATGTGAGTTTGTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTGAGT ACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTC AGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGT GTCAGTGGGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGT GAGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTACAGG GGTGGGGTGTGTCAGTGAGTTCAGAGAGCATGTGAGTGTGTGTGTTAGAG TTACAGGGGTGGGGTGTGTCAGTGAGTACAGAGAGCATGTGAGTGTGTGT GTTAGAGTTACAGGGGTGGGGTGTGTCAGTACAGGGAGTGTGTGAGTGTG TGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGG AGCGTGTGAGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTA CAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTA	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82671956	G G	GTAACTCT others(1103): Show GTAACTCTAACACACACACTCACACGCTCCCTGTACCCACTGACACAGCT CACCCCTGTAACTCTAACACACACTCACACGCTCCCTGTGCTCACTGACA CACCCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTC ACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACACACTCCC TGTACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACATGCT CTCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACACTC ACATGCTCTCTGAACTCACTGACACACCCCACCCCTGTAACTCTAACACA CACACACGCTCCCTGTACTCACTGACACACCTCACCCCTGTAACTCTAAC ACACACACTCACACGCTCCCTGTACCCACTGACACACCCCACCCCTGTAA CTCTAACACACACACACGCTCCCTGTACTCACTGACACACCTCACCCCTG TAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCCC ACCCCGTAACTCTAACACACAAACTCACATGCTCTCTGTACTCACTGACA CACCTAACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTC ACTGACACACCCCACCCCGTAACTCTAACACACAAACTCACATGCTCTCT GTACTCACTGACACACCTAACCCCTGTAACTCTAACACACACACTCACAC GCTCCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAACACACACA CACGCTCCCTGTACTCACTGACACACCTCACCCCTGTAACTCTAACACAC ACACTCACACGCTCCCTGTACTCACTGACACACCCCACCCCGTAACTCTA ACACACAAACTCACATGCTCTCTGTACTCACTGACACACCTAACCCCTGT AACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCTCA CCCCTGTAACTCTAACACACACACTCACACACTCCCTGTACTGACACACC CCACCCCTGTAACTCTAACACACACACTCACATGCTCTCTGTACTGACAC ACCCCACCCCA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	338	0.0030	1110	c.143 others(1127): Show c.143-7401_143-7400insTGGGGTGGGGTGTGTCAGTACAGAGAGC ATGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTACAGGG AGTGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTGAG TACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTTAGGTGTGT CAGTGAGTACAGAGAGCATGTGAGTTTGTGTGTTAGAGTTACGGGGTGGG GTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAG GGGTGAGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTA CAGGGGTGGGGTGTGTCAGTGGGTACAGGGAGCGTGTGAGTGTGTGTGTT AGAGTTACAGGGGTTAGGTGTGTCAGTGAGTACAGAGAGCATGTGAGTTT GTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GAGTGTGTGTGTTAGAGTTACAGGGGTTAGGTGTGTCAGTGAGTACAGAG AGCATGTGAGTTTGTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTGAGT ACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTC AGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGT GTCAGTGGGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGT GAGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTACAGG GGTGGGGTGTGTCAGTGAGTTCAGAGAGCATGTGAGTGTGTGTGTTAGAG TTACAGGGGTGGGGTGTGTCAGTGAGTACAGAGAGCATGTGAGTGTGTGT GTTAGAGTTACAGGGGTGGGGTGTGTCAGTACAGGGAGTGTGTGAGTGTG TGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGCACAGGG AGCGTGTGAGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTA CAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTA	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82671976	C C	CACACCCT others(1103): Show CACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAACACACA CACTCACACACCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAAC ACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCTGTAACTC TAACACACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCT GTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCC CACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGA CACACCCCAACCCTGTAACCCTAACACACACAGTCACACATCCTGTACTC ACTGACACACTTCACCCTGTAACTCTAACACACTCACACGCTCTCTGTAC TGACACACCTCACCCCTGTAACTCTAACACACACACTCTCACACACATCC TGTACTCACTGACACACTTCACCCTGTAACTCTAACACACACACGCTCCC TGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATG CTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACAC TCACACGCTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACA CACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCATAACTCT AACACACACACTCACACCCTGTACTCACTGACACACCCCACCCCGTCACT CTAAAACACACACACTCACACACCCTGTACCCACTGACACACCTCACCCC TGTAACTCAAACCACACACACACCCTGTACTCACTGACACACCCCACCCC TGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACAGC TCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTG ACACACCCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTA CCCACTGACACAGCTCACCCCTGTAACTCTAACACACACTCACACGCTCC CTGTACTCACTGACACACCCCACCCGTGTAACTCTAACACACACACTCAC ACGCTCCCTGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0307 a0001c0001t0018g0307	1	338	0.0030	1110	c.143 others(1127): Show c.143-7421_143-7420insACAGGGAGCGTGTGAGTGTGTGTGTTAG AGTTACACGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGT GTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCGTGTGAG TGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGC GTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGAGTAC AGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAG TGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAGGTGTGTCAG TGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTGGGGTG TGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTTAGAGTTATGGGGTGAGC TGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGG TGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTT ACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTTA GAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTT AGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGTGAGAGTG TGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGAGCGTGTGA GTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGA CTGTGTGTGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTACAGGGAG CGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTA CAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCA GTGGGTACAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACAGGGTGAGCT GTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGGT GGGGTGTGTCAGTGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGA CGGGGTGGGGTGTGTCAGTGAGTACAGGGTGT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82671976	C C	CACACCCT others(1103): Show CACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAACACACA CACTCACACACCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAAC ACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCTGTAACTC TAACACACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCT GTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCC CACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGA CACACCCCAACCCTGTAACCCTAACACACACAGTCACACATCCTGTACTC ACTGACACACTTCACCCTGTAACTCTAACACACTCACACGCTCTCTGTAC TGACACACCTCACCCCTGTAACTCTAACACACACACTCTCACACACATCC TGTACTCACTGACACACTTCACCCTGTAACTCTAACACACACACGCTCCC TGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATG CTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACAC TCACACGCTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACA CACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCGTAACTCT AACACACACACTCACACCCTGTACTCACTGACACACCCCACCCCGTCACT CTAAAACACACACACTCACACACCCTGTACCCACTGACACACCTCACCCC TGTAACTCAAACCACACACACACCCTGTACTCACTGACACACCCCACCCC TGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACAGC TCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTG ACACACCCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTA CCCACTGACACAGCTCACCCCTGTAACTCTAACACACACTCACACGCTCC CTGTACTCACTGACACACCCCACCCGTGTAACTCTAACACACACACTCAC ACGCTCCCTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(76): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02683.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG04204.hp1 HG04204.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18991.hp1 NA18994.hp1 NA19000.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0041 a0005c0009t0004	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(74): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0317 a0001c0001t0002g0002 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0320 a0001c0001t0003g0003 a0001c0001t0003g0230 a0001c0001t0003g0243 a0001c0001t0004g0051 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0156 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0004g0269 a0001c0001t0004g0306 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0072 a0001c0001t0008g0075 a0001c0001t0008g0076 a0001c0001t0008g0133 a0001c0001t0009g0088 a0001c0001t0010g0074 a0001c0001t0011g0100 a0001c0001t0011g0228 a0001c0001t0011g0229 a0001c0001t0011g0231 a0001c0001t0015g0143 a0001c0001t0018g0136 a0001c0001t0019g0248 a0001c0001t0020g0300 a0001c0001t0022g0242 a0001c0001t0041g0276 a0005c0009t0004g0330	79	338	0.2337	1110	c.143 others(1127): Show c.143-7421_143-7420insACAGGGAGCGTGTGAGTGTGTGTGTTAG AGTTACACGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGT GTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCGTGTGAG TGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGC GTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGAGTAC AGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAG TGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAGGTGTGTCAG TGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTGGGGTG TGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTTAGAGTTACGGGGTGAGC TGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGG TGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTT ACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTTA GAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTT AGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGTGAGAGTG TGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGAGCGTGTGA GTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGA CTGTGTGTGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTACAGGGAG CGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTA CAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCA GTGGGTACAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACAGGGTGAGCT GTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGGT GGGGTGTGTCAGTGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGA CGGGGTGGGGTGTGTCAGTGAGTACAGGGTGT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82671976	C C	CACACCCT others(1103): Show CACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAACACACA CACTCACACACCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAAC ACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCTGTAACTC TAACACACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCT GTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCC CACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGA CACACCCCAACCCTGTAACCCTAACACACACAGTCACACATCCTGTACTC ACTGACACACTTCACCCTGTAACTCTAACACACTCACACGCTCTCTGTAC TGACACACCTCACCCCTGTAACTCTAACACACACACTCTCACACACATCC TGTACTCACTGACACACTTCACCCTGTAACTCTAACACACACACGCTCCC TGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATG CTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACAC TCACACGCTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACA CACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCGTAACTCT AACACACACACTCACACCCTGTACTCACTGACACACCCCACCCCGTCACT CTAAAACACACACACTCACACACCCTGTACCCACTGACACACCTCACCCC TGTAACTCAAACCACACACACACCCTGTACTCACTGACACACCCCACCCC TGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACAGC TCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTG ACACACCCCACCCCTGTAACTCTAACACACACACTCACATGCTCCCTGTA CCCACTGACACAGCTCACCCCTGTAACTCTAACACACACTCACACGCTCC CTGTACTCACTGACACACCCCACCCGTGTAACTCTAACACACACACTCAC ACGCTCCCTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01358.hp1 HG01433.hp2 others(3): Show HG01069.hp1 HG01358.hp1 HG01433.hp2 HG01934.hp1 HG01975.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0001t0002 a0001c0001t0009 a0001c0001t0017	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(3): Show a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0009g0089 a0001c0001t0017g0082	6	338	0.0178	1110	c.143 others(1127): Show c.143-7421_143-7420insACAGGGAGCGTGTGAGTGTGTGTGTTAG AGTTACACGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGT GTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCATGTGAG TGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGC GTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGAGTAC AGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAG TGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAGGTGTGTCAG TGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTGGGGTG TGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTTAGAGTTACGGGGTGAGC TGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGG TGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTT ACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTTA GAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTT AGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGTGAGAGTG TGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGAGCGTGTGA GTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGA CTGTGTGTGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTACAGGGAG CGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTA CAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCA GTGGGTACAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACAGGGTGAGCT GTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGGT GGGGTGTGTCAGTGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGA CGGGGTGGGGTGTGTCAGTGAGTACAGGGTGT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RASA3_chr13_113972783_114137623	114099784	C C	CAGCCCCC others(1103): Show CAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCC CACAGCAGCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGC CCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCACAG CCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCAGCCCCC CGTAGCCCCCACAGCAGCCCCCCCGCAGCCCCCCACAGCAGCCCCCCACA GCAGCCCCCACACAGCCCCCCCAGCAGCCCCCCACAGCCCCCCCAGCAGC CCCCACAGCAGCCCCCACAGCAGCCCCCCACAGCCCCCCACAGCCCCCAC AGCAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCCCACAGCAGC CCCCCGTAGCCCCCACAGCAGCCCCCCCGCAGCCCCCCCAGCAGCCCCCC ACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCAGCAGCCCCCCACAGC CCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCC CCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGC CCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCAC AGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCCA CAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCC CCACAGCCCCCCCAGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCAC AGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAG CCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGC CCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCA CAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACA GCAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCC CCACAGCAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCCACA GCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	67	0.0149	1110	c.56- others(1127): Show c.56-25948_56-25947insCTGTGGGGGGCTGTGGGGGGGCTGTGGG GGGGCTGTGGGGGGCTGTGGGGGGCTGCTGTGGGGGGGCTGTGGGGGGCT GTGGGGGGGCTGTGGGGGGCTGTGGGGGGCTGCTGTGGGGGGGCTGCTGT GGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGG GCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGG GGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGG GGGGGCTGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGG GGGCTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGG CTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGG CTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGG GGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGG GGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGC TGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGCTG GGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGCTGGGGGG GCTGCGGGGGGGCTGCTGTGGGGGCTACGGGGGGCTGCTGTGGGGGGGCT GTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGG CTGTGGGGGGCTGCTGTGGGGGCTGCTGTGGGGGCTGCTGGGGGGGCTGT GGGGGGCTGCTGGGGGGGCTGTGTGGGGGCTGCTGTGGGGGGCTGCTGTG GGGGGCTGCGGGGGGGCTGCTGTGGGGGCTACGGGGGGCTGCTGTGGGGG GGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGG GGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTG GGGGGCTGTGGGGGGCTGTGGGGGGCTGCTGTGGGGGGGCTGTGGGGGGC TGTGGGGGGGCTGTGGGGGGCTGTGGGGGGCT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79554427	C C	CACCTGGC others(1103): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTC ACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACC CCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCC TCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCAC TCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCC TCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTC TCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTC ACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTC ACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTC CATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCAC AGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	154	0.0065	1110	c.-32 others(1131): Show c.-320+56398_-320+56399insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGAT GGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGG TGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTG TGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGG AGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTG AGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554445	T T	TTCACTCA others(1103): Show TTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTC ACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGG CCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTT CACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCAC CCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCC CTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCA CTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCC CTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCT CTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACT CACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCT CACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	154	0.0065	1110	c.-32 others(1131): Show c.-320+56380_-320+56381insGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGAT GGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGG TGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTG TGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGG AGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTG AGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTG AGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAG AGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAG GGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAG TGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAG GGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGG GTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTG AGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGG CCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGT GACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAG GATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RNF223_chr1_1065967_1079306	1078565	A A	AGGCTGAG others(1103): Show AGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGACTCCGTCGGGGG AGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGTGGCTGTGGC TATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG ACGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTC TATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACT CCGTGAGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0003	2	324	0.0062	1110	c.-45 others(1121): Show c.-4560_-4559insACCCCTCACGGAGTCCCCATAGACTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCCC CCCACGGAGTCCCCATAGCCTCAGCGTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCC GGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGAC TCAGCCTCTCGGCACGGAGTCCCCATAGCCACAGCCACCCGGCACGGAGT CCCCATAGCCACAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGCC TCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCC GGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCAACGGAGTCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCCTAGCC TCAGCCTCCCCCGATGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCC CTCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4260		chr1	TogoVar
RTEL1_chr20_63653312_63701245	63693732	T T	TCCACCAC others(1103): Show TCCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCTCCAC CACCACCACCACCACCACCACCACCACCTCCACCACCTCCACCACCACCT CCACCACCACCACCTCCACCACCTCCACCACCTCCACCACCACCTCCACC ACCACCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCAC CACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCACCACCA CCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACC ACCACCACCTCCACCACCACCACCTCCATCTCCACCACCACCTCCACCTC CACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCACCA CCACCTCCACCTCCACCACCTCCACCACCTCCACCTCCACCACCACCTCC ACCACCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCTCCAC CTCCACCTCCACCACCTCCACCACCTCCACCTCCACCACCACCTCCACCA CCACCACCTCCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACC ACCACCTCCACCACCACCACCTCCATCTCCACCACCACCTCCACCTCCAC CTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCACCACCA CCACCACCACCACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACC ACCTCCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCACCTC CACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCACCACCA CCACCACCTCCACCTCCACCACCACCACCACCTCCACCACCACCTCCACC TCCACCACCACCACCACCTCCTCCACCACCTCCACCACCACCTCCACCAC CTCCACCACCTCCACCACCACCTCCACCACCACCACCACCTCCTCCACCA CCTCCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACCACC ACCTCCACCACCACCACCACCTCCTCCACCTCCACCACCTCCACCACCAC CTCCAACTCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0025 a0012c0021t0001g0025	1	60	0.0167	1110	c.299 others(1127): Show c.2992+454_2992+455insACCACCTCCACCACCACCACCTCCACCA CCACCTCCACCTCCACCACCACCACCACCACCACCACCACCACCTCCACC ACCTCCACCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCTC CACCACCACCTCCACCACCACCACCACCACCTCCACCACCACCTCCACCA CCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCTCC ACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTCCACCTC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCATCTCCA CCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACC ACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCACCTCCAC CTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCA CCACCACCACCTCCACCTCCACCTCCACCACCTCCACCACCTCCACCTCC ACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCACCAC CACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCATCTCCACCA CCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCACC ACCACCACCACCACCACCACCACCACCACCTCCACCACCTCCACCTCCAC CTCCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCT CCACCTCCACCACCTCCACCTCCACCACCACCACCACCACCACCTCCACC ACCACCACCACCACCACCACCACCTCCACCTCCACCACCACCACCACCTC CACCACCACCTCCACCTCCACCACCACCACCACCTCCTCCACCACCTCCA CCACCACCTCCACCACCTCCACCACCTCCACCACCACCTCCACCACCACC ACCACCTCCTCCACCACCTCCACCACCTCCACCACCACCTCCACCACCTC CACCACCTCCACCACCACCTCCACCACCACCACCACCTCCTCCACCTCCA CCACCTCCACCACCACCTCCAACTCCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RYR3_chr15_33305967_33871102	33820898	T T	TGTGGCTC others(1103): Show TGTGGCTCGCCCACCAGCAGTGTGTGAGTTGGCAAGTCTGCCTTAATAAA GCACACTCATTAGCTGTGGTTCTCTTGTCTCTCTGCCCATGAAAAGGTAG CAGGTAGTATGCCAGTCAGCAAACCACTAGCTTTGTTCTTGTGGGAAATT GTACTCAATTACTGTAATAACAGGGGCCATAGAAGGACAAACTGAAACAT CTAAAATGAAAAAGTCAGAAAAATGAAAATCAGGCCAAGCGTGGTGGCTC ACACCTGTAATCCCAGCTCTTTGGGAGGCCAGGGGAGGGAAGATCACTTG AGCTTAGAAGTTCGAGACCAGTCTGGGCAACATAGGGAGACCTACCTCAT CTATACAAAAAATAAAAAATTAGTTGGGTATGGTGGTGTGCTCCTGTAGT CCCAGCTGCTCAGGAGGCAGAGGTAGGAGGATAGTTTGAGCCCAAGTATT TGAGGCTGCAGTGAGTTCTGATTGCACCCTGCACTCCAGGCTGGGTGACA GAGTAACATCCAGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG ATTAAAAAATCAGAGGAATGGAGACACTTGAATGGTTTTTGTGCTATTAT TCTATAAATGCAAGTTGATAGTGATTTTTATTTTGAGGCAGTACAGGACC CTGCAATTCTCAAGATTAAACTATATTAGGTTACTTGTACTCTTTTGTAG ACAAAGCACATGACAAAACACAGCAGAAGTAAATGACTATAATTACAGTC TGGAAAGCTTTGACATTCTCATAACCCATGTCTGATAGAAAGTGTGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCA CCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCTTGGTGTGGTGGCATACGCCTGTAA TCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGG CAGACGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGCGA CAGAACAAGACTCCGTCTCAAAAAAAAATGTGTTAGCTGTGGTCTGAGCA TTCCAGAGAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03017.hp2 HG03098.hp2 others(3): Show HG01243.hp1 HG03017.hp2 HG03098.hp2 NA18964.hp2 NA19030.hp2 NA19062.hp1	a0001 a0011 a0013 a0001 a0011 a0013	a0001c0003 a0001c0013 a0001c0014 others(3): Show a0001c0003 a0001c0013 a0001c0014 a0001c0079 a0011c0063 a0013c0057	a0001c0003t0001 a0001c0013t0005 a0001c0014t0002 others(3): Show a0001c0003t0001 a0001c0013t0005 a0001c0014t0002 a0001c0079t0006 a0011c0063t0001 a0013c0057t0003	a0001c0003t0001g0032 a0001c0013t0005g0084 a0001c0014t0002g0049 others(3): Show a0001c0003t0001g0032 a0001c0013t0005g0084 a0001c0014t0002g0049 a0001c0079t0006g0038 a0011c0063t0001g0126 a0013c0057t0003g0082	6	154	0.0390	1110	c.108 others(1127): Show c.10815+86_10815+87insGTGGCTCGCCCACCAGCAGTGTGTGAGT TGGCAAGTCTGCCTTAATAAAGCACACTCATTAGCTGTGGTTCTCTTGTC TCTCTGCCCATGAAAAGGTAGCAGGTAGTATGCCAGTCAGCAAACCACTA GCTTTGTTCTTGTGGGAAATTGTACTCAATTACTGTAATAACAGGGGCCA TAGAAGGACAAACTGAAACATCTAAAATGAAAAAGTCAGAAAAATGAAAA TCAGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGC CAGGGGAGGGAAGATCACTTGAGCTTAGAAGTTCGAGACCAGTCTGGGCA ACATAGGGAGACCTACCTCATCTATACAAAAAATAAAAAATTAGTTGGGT ATGGTGGTGTGCTCCTGTAGTCCCAGCTGCTCAGGAGGCAGAGGTAGGAG GATAGTTTGAGCCCAAGTATTTGAGGCTGCAGTGAGTTCTGATTGCACCC TGCACTCCAGGCTGGGTGACAGAGTAACATCCAGTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGATTAAAAAATCAGAGGAATGGAGACACTT GAATGGTTTTTGTGCTATTATTCTATAAATGCAAGTTGATAGTGATTTTT ATTTTGAGGCAGTACAGGACCCTGCAATTCTCAAGATTAAACTATATTAG GTTACTTGTACTCTTTTGTAGACAAAGCACATGACAAAACACAGCAGAAG TAAATGACTATAATTACAGTCTGGAAAGCTTTGACATTCTCATAACCCAT GTCTGATAGAAAGTGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCAAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTG GCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGG TGTGGTGGCATACGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATCGCTTGAACTCAGGAGGCAGACGTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCGAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAAT GTGTTAGCTGTGGTCTGAGCATTCCAGAGAAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	78/103			chr15	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(1103): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGA AAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCC CTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCC TTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAA ACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCT TCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTT CACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAAC CTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTC CCACCCTCCTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	203	0.0049	1110	c.167 others(1125): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGA GGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGG AAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGG TTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGA AGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAA GGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTT TTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAG GAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGG GGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTT CTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGA GGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGG CGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCT GGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGG GTGGGAAGGGGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(1103): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CATCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCATCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGA AAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCC CTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCC TTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAA ACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCT TCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTT CACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAAC CTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTC CCACCCTCCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02129.hp2 NA19080.hp1 HG00621.hp2 HG02129.hp2 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0025 a0003c0010 a0001c0005 a0001c0025 a0003c0010	a0001c0005t0001 a0001c0025t0001 a0003c0010t0001 a0001c0005t0001 a0001c0025t0001 a0003c0010t0001	a0001c0005t0001g0024 a0001c0025t0001g0102 a0003c0010t0001g0053 a0001c0005t0001g0024 a0001c0025t0001g0102 a0003c0010t0001g0053	3	203	0.0148	1110	c.167 others(1125): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGA GGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGG AAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGG TTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGA AGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAA GGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTT TTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAG GAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGATGGGAAGG GGCGGGAGGTTTTCTGGGGTGAAGGAGGATGGGAAGGGGCGGGAGGTTTT CTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGA GGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGG CGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCT GGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGG GTGGGAAGGGGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1148700	T T	TCCTCCTT others(1103): Show TCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCT CCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGA AAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCC CTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCC TTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAA ACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCT TCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTT CACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAAC CTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTC CCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCA CCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCT CCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCC ACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACC CCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCC CGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCAC CCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAACCC AGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCG CCCCTTCCCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0041	1	203	0.0049	1110	c.167 others(1125): Show c.167+668_167+669insGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG AAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGTTGAAGGAGGGTGGGA AGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGT TTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAA GGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAG GGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTT TCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGG AGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGG GCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGA GGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGG AAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGG TTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGA AGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAA GGGGCGGGAGGTTTTCTGGGGTGAAGGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1098278	C C	CTAACCCT others(1103): Show CTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCA GGCCCCCTTTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACA CCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACC CTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCC CTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGC CCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACC CAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCA CGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTC TGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAA CCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTT CTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCA GGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCGCCCAGCCCCCCTCTAACCTTCTG CACACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCCTCT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0044 a0001c0005t0002g0044	1	118	0.0085	1110	c.125 others(1127): Show c.125-4031_125-4030insAGAGGGGGGCTGGGTGAGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCA GAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTG GGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAAGGTTAGAGGGGG GCTGGGCGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAG GGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTT AGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAG GGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGT GTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGC TGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGG GGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAG AGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGG TTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAG AGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGT GCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGG GTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAAAGGGGGCCTGGGCATGCAGAGGGTT AGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAG GGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SORCS1_chr10_106568663_107169706	106854503	T T	TTTGTTTC others(1103): Show TTTGTTTCCTTTATTCTTTTTTTTTTTTTTTTTTAATTATAATTATGTTT TTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCT GCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCC CTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCT TCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAAT ATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGT TTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTA TGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAG TCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAA TAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATT TATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGT ATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGG TTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTC CGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATT CTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCT GATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAA TGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATG GGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCT GGATATTAGCCCTTTGTCAGATGAGTAGGTTGCGAAAATTTTCTCCCATG TTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAG CTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCAT TGCTTTTGGTG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0011 a0012c0021t0011	a0012c0021t0011g0076 a0012c0021t0011g0076	1	130	0.0077	1110	c.627 others(1129): Show c.627-24831_627-24830insCACCAAAAGCAATGGCAACAAAAGAC AAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAA AGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTT TCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAA CTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGC GAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAA AACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATC AAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAA AAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACAC TTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCA GTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGC CATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATA AAGACACATGCACACGTATGTTTATTGCAGCACTATTCACAATAGCAAAG ACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAAT GTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGT TCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGT AAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGG TGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACAC TCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAG ATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGG CACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAA AACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAACATAATTATAAT TAAAAAAAAAAAAAAAAAAGAATAAAGGAAACAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
TMPRSS9_chr19_2355265_2431261	2377485	C C	CTCTCTCT others(1103): Show CTCTCTCTCTCTCCCCCCACCCCTCCCGCTCTCCCCTTCCCCCTCCCGCA CCTCCCTTCCCCTCTCCCCTCCCCCTCCCTCACCCCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCTCC CCTCCCCTCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCCCTCCCCTCC CCTCCCCTCTCCCCTCTCCTCCCCTCCCCCCTCCCCTCCTCCTCCCCCCT CCCCCCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCTCCCCTCTCCCCTCTCCCCTCCCCCTCTCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCCCTCTCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCCTCCCCTCCACTCCTCTCCTCCTCCCCTCCTCTCTCTTCCCCT CTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTC CCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTGGCCCTTCCCCTCTTCC CTCCTCTCTCCCCTCTCCCCTCCACTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTC CCCCCTCCCCCTTCCCTTCCCTCTCCCCTCCCCTCTCCCTTTCCCTCTCC CCTTCCCTCCCCTCCCCTCCCCTCCCCTACCCCTCCCCCTTCCCCCTCCC CTACCCCTTCCCCTACCCCCCCTCTGCCCTCCCCTCTCCCCTCCCCTCCC CGTCCCCTCCCCTCCCCTCCTCTCTCCCCTCCCCTCCCCTTCCCTCCCCT CTCCCCTCCCCCTCCCCCTTACCCTCCCCCCTCCCCCCTCTGCCCTCCTC TCTCCTCTCTGCCCTCCCCTCTCCCCTCTGCCCTCCCCTCTCCCCTCCCC TCCCCTCTGCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCTCCTC TCTCCTCCCCTCTCCCCTCTCACCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0002 a0007c0025t0002	a0007c0025t0002g0114 a0007c0025t0002g0114	1	114	0.0088	1110	c.-25 others(1129): Show c.-25-12276_-25-12275insTCTCTCTCTCTCCCCCCACCCCTCCC GCTCTCCCCTTCCCCCTCCCGCACCTCCCTTCCCCTCTCCCCTCCCCCTC CCTCACCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCTCCCCTCTCCTCCCCCTC CCCTCTCCTCCTCCCTCCCCTCCCCTCCCCTCTCCCCTCTCCTCCCCTCC CCCCTCCCCTCCTCCTCCCCCCTCCCCCCCCCTCCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCC CTCTCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCTCCC CTCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCTCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCTCCACTCCTCTCCT CCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCT CTCCTCCCCTCTCCCCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCC TCCCCTGGCCCTTCCCCTCTTCCCTCCTCTCTCCCCTCTCCCCTCCACTC CCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCCT CCCCTCTCCCCTTCCCTCCCCTCCCCCCTCCCCCTTCCCTTCCCTCTCCC CTCCCCTCTCCCTTTCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCC TACCCCTCCCCCTTCCCCCTCCCCTACCCCTTCCCCTACCCCCCCTCTGC CCTCCCCTCTCCCCTCCCCTCCCCGTCCCCTCCCCTCCCCTCCTCTCTCC CCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCTTACCCTCC CCCCTCCCCCCTCTGCCCTCCTCTCTCCTCTCTGCCCTCCCCTCTCCCCT CTGCCCTCCCCTCTCCCCTCCCCTCCCCTCTGCCCTCCCCTCTCCTCTCC CCTCCCCTCTCCCCTCTCTCCTCTCTCCTCCCCTCTCCCCTCTCACCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
YBEY_chr21_46281342_46302751	46292527	T T	TGTGCCCG others(1103): Show TGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACG CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAATCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAATCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAG TGAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0361	1	404	0.0025	1110	c.339 others(1127): Show c.339+1077_339+1078insCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAATCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAATCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292786	A A	AACTCTAG others(1103): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	404	0.0025	1110	c.339 others(1127): Show c.339+1379_339+1380insGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292934	G G	GACTCTAG others(1103): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGAAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp2 HG02004.hp1 HG01192.hp1 HG01358.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0121 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0121	3	404	0.0074	1110	c.339 others(1127): Show c.339+1509_339+1510insATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGAAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294398	A A	ACAGCCAC others(1103): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCCGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	404	0.0025	1110	c.340 others(1127): Show c.340-1757_340-1756insGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294414	A A	AACTCTAG others(1103): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAG ATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	404	0.0025	1110	c.340 others(1127): Show c.340-1711_340-1710insATGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGT GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294622	A A	AGCCACGC others(1103): Show AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTGTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTGTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGT GAGTGGAGTCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	404	0.0025	1110	c.340 others(1127): Show c.340-1489_340-1488insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTGTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTGTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGAAGTGAGTGGAGTCGGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(1103): Show GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACG CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCA AGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGG ACTCGGTGGAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	404	0.0025	1110	c.340 others(1127): Show c.340-1461_340-1460insACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ATXN1_chr6_16294112_16766460	16615248	A A	ATATGTCA others(1104): Show ATATGTCAGCTTGCCCATTTGTATGGAATTTCATGGTTTTTTTGACAAGT CAGTCTTTTTGTCATCATCGCATCTTGAGAGTAGAGAGGAAGGGAATGGA AGGGAGAACTGTTACTATCAGAGGCTTCTGGAAATCCCCGCTTGATGGTA CATGACTCTTTCTTAAGAATGGTTCTCTTTTACGGGTTGCCATTTTGGTG ACAATTGGTGCACTCAGCTCTACCTCTTGGTGGGCCCCAGTGTACTTCAG CATGATCTCAGTTCTTTCTTTCTCTACCAGTTTCCATGATACATACATCC TGAAAATCACAGCATCACCATTCAATAGACAAAAATTATCATTATCAAAG CGGCCAAAAAGGTTTTCTCTTAAATATTCTGTGGGAAAGAGGGTTGAAAA TTAGAATAGAATACTATGTATTTGCCACAGTAAAAGATATCTACCACAAA CCAGTAGCCAATATTATATTAAAAGTTAAAAACAAGAGTCAATGATTAAA TTCAGGCCACATGCGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGG CTGAAGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCGA ACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTG GTGTTGCATGCCTGTAATCCCAGATACTTGGGAGTCTGAGGCCGGAGAAT CACTTGAGCCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGTGCCAC TGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTTGATAAAATAAAA TGAAATAAAATAAAATAATATAAATACAAATGACAAATTTTCTAGAAACA TTAAAATGCTTTAATATTAATTTAAGAAGTAAAAATCCTGATCAAAAAAA TTATTATAGACAAACTTTTAGGGGTGGGGAGGCTTTCATAATATAACAAC CAAAAAATGACATAATTCTAATAACTTTGGGGACAGGTAATTTCAAAGCT TCCAGGATGCTACATGTGCCTTAATGGGGGCAAAGGTACCCTTCCTTTCT CTCACTTTTCTTCTCCTTGAGGCAACTCAGAGGAGCGATTGTGGAAATTT CCGAAGCTGCTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0080 a0002c0004t0001g0080	1	182	0.0055	1111	c.-48 others(1132): Show c.-488-29342_-488-29341insCAGCAGCTTCGGAAATTTCCACAA TCGCTCCTCTGAGTTGCCTCAAGGAGAAGAAAAGTGAGAGAAAGGAAGGG TACCTTTGCCCCCATTAAGGCACATGTAGCATCCTGGAAGCTTTGAAATT ACCTGTCCCCAAAGTTATTAGAATTATGTCATTTTTTGGTTGTTATATTA TGAAAGCCTCCCCACCCCTAAAAGTTTGTCTATAATAATTTTTTTGATCA GGATTTTTACTTCTTAAATTAATATTAAAGCATTTTAATGTTTCTAGAAA ATTTGTCATTTGTATTTATATTATTTTATTTTATTTCATTTTATTTTATC AAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACACGAT CTTGGCTCATTGCAACCTCTGCCTCCCAGGCTCAAGTGATTCTCCGGCCT CAGACTCCCAAGTATCTGGGATTACAGGCATGCAACACCACGCCTGGCTA ATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTCGCCAGGCTGG TCTCAAACTCCTGACCTCAAGTGATCCACCCGCTTCAGCCTCCCAAAGTG CTGGGGTTACAGGCATGAGCCACCGCATGTGGCCTGAATTTAATCATTGA CTCTTGTTTTTAACTTTTAATATAATATTGGCTACTGGTTTGTGGTAGAT ATCTTTTACTGTGGCAAATACATAGTATTCTATTCTAATTTTCAACCCTC TTTCCCACAGAATATTTAAGAGAAAACCTTTTTGGCCGCTTTGATAATGA TAATTTTTGTCTATTGAATGGTGATGCTGTGATTTTCAGGATGTATGTAT CATGGAAACTGGTAGAGAAAGAAAGAACTGAGATCATGCTGAAGTACACT GGGGCCCACCAAGAGGTAGAGCTGAGTGCACCAATTGTCACCAAAATGGC AACCCGTAAAAGAGAACCATTCTTAAGAAAGAGTCATGTACCATCAAGCG GGGATTTCCAGAAGCCTCTGATAGTAACAGTTCTCCCTTCCATTCCCTTC CTCTCTACTCTCAAGATGCGATGATGACAAAAAGACTGACTTGTCAAAAA AACCATGAAATTCCATACAAATGGGCAAGCTGACATA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
C2CD4C_chr19_400445_414147	404006	G G	GGACGGGG others(1104): Show GGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACAGGGTCCTGCCCTGA GGGGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGACGG GGTCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGG TGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCC TGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGG GGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGATGGGGTCCT GCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGG GGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGG GGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGACGGGGTCCTGC CCTGAGGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGG GGACGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGACGGGGGTCCTGCCCC GAGGGGTGTGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGG GGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCT GAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGATGTGAGGGGGGG ACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTG AGGGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGG ACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGTCCTGCCCCGAGG GGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGGAC GGGGTCCTGCCCCGAGGGGTGTGGGGGGGGAACGGGGTCCTGCCTTGAGG GGTGTGGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGG GGTCCTGCCCTGAGGGGTGTGGGGGGGGAACGGGGTCCTGCCCTGAGGGG TGTGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0164 a0001c0001t0051g0164	1	322	0.0031	1111	c.30 others(1122): Show c.3089_*3090insTCCCCCCCCACACCCCTCAGGGCAGGACCCCGTT CCCCCCCCACACCCCTCAGGGCAGGACCCCCGTCCCCCCCACACCCCTCA GGGCAGGACCCCGTTCCCCCCCCACACCCCTCAAGGCAGGACCCCGTTCC CCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCCCACACCCCTCG GGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCCCC CCCTCACACCCCTCGGGGCAGGACCCGTCCCCCCCTCACACCCCTCGGGG CAGGACCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCCCCCC CCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACATCCCTCGGGG CAGGACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCC TCAGACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGAC AGGGCCCCGTCCCCCCCCCACACCCCTCGGGGCAGGACCCCCGTCCCCCC CTCAGACCCCTCGGGGCAGGACCCGTCCCCCCCCACACCCCTCAGGGCAG GACCCCGTCCCCCCCACACCCCCTCAGGGCAGGACCCCGTCCCCCCCCAC ACCCCTCAGGGCAGGACCCCGTCCCCCCCCACACCCCTCAGGGCAGGACC CCGTCCCCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCCAC ACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGAC CCCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCCATCCCCCCCCCACA CCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGACC CCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCC CTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTC CCCCCCTCAGACCCCTCAGGACAGGACCCCGTCCCCCCCCACACCCCTCA GGGCAGGACCCCGTCCCCCCCTCACCCCTCAGGGCAGGACCCTGTCCCCC CCACACCCCTCAGGGCAGGACCCCGTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1438		chr19	TogoVar
CCDC77_chr12_396644_447642	421529	A A	ACACACAT others(1104): Show ACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATG CTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATAC ACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACA TAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATA GCAGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCCATTACAGT GCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACACATAG CAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATTACAGTG CGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGC ACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0228 a0003c0003t0002g0228	1	432	0.0023	1111	c.413 others(1128): Show c.413+2893_413+2894insCACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACAT AGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGC AGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGC AGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGC GCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGCA CACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAAATACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCA CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCAC ACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
DISP3_chr1_11474155_11542551	11522728	G G	GCCCAGCC others(1104): Show GCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACC CAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCA GGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGC CAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA GCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0007 a0004c0010t0007	a0004c0010t0007g0335 a0004c0010t0007g0335	1	358	0.0028	1111	c.236 others(1130): Show c.2363-1205_2363-1204insAGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCC AGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAG CGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGCCC AGCGAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGA GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1104): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGAGGAGGAGGGG GGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAG GGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GAGGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGGAGGAGGGAGGAGGGA GGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGGGGA GGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0135 a0135	a0135c0173 a0135c0173	a0135c0173t0001 a0135c0173t0001	a0135c0173t0001g0206 a0135c0173t0001g0206	1	252	0.0040	1111	c.118 others(1130): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCC TCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCCTCCTCCTCCTCCCTCC TCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTC CTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCT CCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCC CTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1104): Show AGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGAGGAGGA GGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGG GAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAG GAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAG GAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGA GGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGGAGG AGGAGGGAGGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGG GAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGG AGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGG GGGAGGAGGAGGAGGGAGGAGGAGAGGAGGAGGGGAGGAGGAGGAGGGGG GAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0080 a0004c0018t0001g0080	1	252	0.0040	1111	c.118 others(1130): Show c.11806-562_11806-561insCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCCTCCTCCTCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCT CCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCCTCCCTCCCTCCTCCTCCCTCCTCCTC CCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCC TCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCC CCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCC TCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
GPA33_chr1_167047836_167095377	167056594	T T	TGTATAGT others(1104): Show TGTATAGTGTGTGTGATGGGAGTGTGATGTGTGGTGTGTGTATGTGGCAT AAGGAGTGTGTGTGATATGAGATGTGTATGTGGTGGCTGGGTGGTGTATG GTGTGCTGTGCACTATGAGAGTTGTGTGTGTGCATGTAGTGTGTGGTGTG TGTATAAGGAGTGTGTGTGCTGTGTGTGTATAGTGTGTGTTTTGTGTGTG TTTCTGGGTTGTGTGTGGTATGGGGGTGGTGAATGTGTATTTGTGGTGTG TGGTGTGTGTGTGGTATGTGAATGTGTGTAAAGTGTGGGAGGTATATGTG TGTGGTGTGGGGGGCAGTGAGTGTGTGTGGTGTGTGTAGTGTGTATGTGT AGAGTGTGTAGTGTGTGGTGTATGTGGTGTGTGTGGTGTATGTGGTGTGT GTGGTGTGTGTATGGCGTGTGTGTGGTGTATGGTGTTTTGGGGTGCCTGG GAAGTATATGTGTGTGGTATGGGGGGCAGTGTGTGTGTTGTGTGTAGTGT ATGGTATGTGAGGGGTGTGTGTATGGTGTGTGTAGTGTGTGTGATGTGGT GTGTGTTGTAAGTGTGTGATGTGTGTGGTGTGTGTAGTGTGTGTGGTGCA TGTGGTAAGTGTGTGATGTGTGTGGTGTGTGGTGTGTGGTGTGTGCGGTG TGTGTAATATGTGTGGTGCCTGTGGTGAGTGTGTGATGTGTGTGGTGTAT GTAGGGTGTCTGGTGTGTATGGTGCATGTGTGATGTGTGTGTGGCATGTG TAGTGTGTGGTGCGTGTGGTGTGTCTGGTGTGTGGTGTGTGTGTGGTGGT GTGTGTAGTGTGTGTGGTGTGTGTGGTATGTGATGTGTGTGGTGTGTGTA GTGTGTGGTGCGTGTGGTGTGTGATGTGTGTAGTGCATGTGTGGGGTGTG TGTGTGGTGTGTGTAGTGTGGTACATGTGGTGTGTGTTGTGTGTGGTGTG TGTGTGGCATGTGTAATGTGTGGTGCATGTGGTGTGGTGTGTGTGTGGCA GCATGTGTAGTGTGTGTGGTGTGTGGTGTGTGATGTGTGTGGTGTGCGGT GTGTGTAGTGTGTGGTATGGTGAGTGTGTGATGTGTCTGGTGTGTGGTGT GTGATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	370	0.0027	1111	c.572 others(1126): Show c.572-746_572-745insCACACACATCACACACCACACACCAGACAC ATCACACACTCACCATACCACACACTACACACACCGCACACCACACACAT CACACACCACACACCACACACACTACACATGCTGCCACACACACACCACA CCACATGCACCACACATTACACATGCCACACACACACCACACACAACACA CACCACATGTACCACACTACACACACCACACACACACCCCACACATGCAC TACACACATCACACACCACACGCACCACACACTACACACACCACACACAT CACATACCACACACACCACACACACTACACACACCACCACACACACACCA CACACCAGACACACCACACGCACCACACACTACACATGCCACACACACAT CACACATGCACCATACACACCAGACACCCTACATACACCACACACATCAC ACACTCACCACAGGCACCACACATATTACACACACCGCACACACCACACA CCACACACCACACACATCACACACTTACCACATGCACCACACACACTACA CACACCACACACATCACACACTTACAACACACACCACATCACACACACTA CACACACCATACACACACCCCTCACATACCATACACTACACACAACACAC ACACTGCCCCCCATACCACACACATATACTTCCCAGGCACCCCAAAACAC CATACACCACACACACGCCATACACACACCACACACACCACATACACCAC ACACACCACATACACCACACACTACACACTCTACACATACACACTACACA CACCACACACACTCACTGCCCCCCACACCACACACATATACCTCCCACAC TTTACACACATTCACATACCACACACACACCACACACCACAAATACACAT TCACCACCCCCATACCACACACAACCCAGAAACACACACAAAACACACAC TATACACACACAGCACACACACTCCTTATACACACACCACACACTACATG CACACACACAACTCTCATAGTGCACAGCACACCATACACCACCCAGCCAC CACATACACATCTCATATCACACACACTCCTTATGCCACATACACACACC ACACATCACACTCCCATCACACACACTATAC	GPA33	ENSG00000143167.12	transcript	ENST00000367868.4	protein_coding	4/6			chr1	TogoVar
GPA33_chr1_167047836_167095377	167056594	T T	TGTATAGT others(1104): Show TGTATAGTGTGTGTGATGGGAGTGTGATGTGTGGTGTGTGTATGTGGCAT AAGGAGTGTGTGTGATATGAGATGTGTATGTGGTGGCTGGGTGGTGTATG GTGTGCTGTGCACTATGAGAGTTGTGTGTGTGCATGTAGTGTGTGGTGTG TGTATAAGGAGTGTGTGTGCTGTGTGTGTATAGTGTGTGTTTTGTGTGTG TTTCTGGGTTGTGTGTGGTATGGGGGTGGTGAATGTGTATTTGTGGTGTG TGGTGTGTGTGTGGTATGTGAATGTGTGTAAAGTGTGGGAGGTATATGTG TGTGGTGTGGGGGGCAGTGAGTGTGTGTGGTGTGTGTAGTGTGTATGTGT AGAGTGTGTAGTGTGTGGTGTATGTGGTGTGTGTGGTGTATGTGGTGTGT GTGGTGTGTGTATGGCGTGTGTGTGGTGTATGGTGTTTTGGGGTGCCTGG GAAGTATATGTGTGTGGTATGGGGGGCAGTGTGTGTGTTGTGTGTAGTGT ATGGTATGTGAGGGGTGTGTGTATGGTGTGTGTAGTGTGTGTGATGTGGT GTGTGTTGTAAGTGTGTGATGTGTGTGGTGTGTGTAGTGTGTGTGGTGCA TGTGGTAAGTGTGTGATGTGTGTGGTGTGTGGTGTGTGGTGTGTGCGGTG TGTGTAATATGTGTGGTGCCTGTGGTGAGTGTGTGATGTGTGTGGTGTAT GTAGGGTGTCTGGTGTGTATGGTGCATGTGTGATGTGTGTGTGGCATGTG TAGTGTGTGGTGCGTGTGGTGTGTCTGGTGTGTGGTGTGTGTGTGGTGGT GTGTGTAGTGTGTGTGGTGTGTGTGGTATGTGATGTGTGTGGTGTGTGTA GTGTGTGGTGCGTGTGGTGTGTGATGTGTGTAGTGCATGTGTGGGGTGTG TGTGTGGTGTGTGTAGTTGTGTGGTACATGTGTGTGTTGTGTGTGGTGTG TGTGTGGCATGTGTAATGTGTGGTGCATGTGGTGTGGTGTGTGTGTGGCA GCATGTGTAGTGTGTGTGGTGTGTGGTGTGTGATGTGTGTGGTGTGCGGT GTGTGTAGTGTGTGGTATGGTGAGTGTGTGATGTGTCTGGTGTGTGGTGT GTGATGTGTGTG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0168 a0001c0001t0018g0168	1	370	0.0027	1111	c.572 others(1126): Show c.572-746_572-745insCACACACATCACACACCACACACCAGACAC ATCACACACTCACCATACCACACACTACACACACCGCACACCACACACAT CACACACCACACACCACACACACTACACATGCTGCCACACACACACCACA CCACATGCACCACACATTACACATGCCACACACACACCACACACAACACA CACATGTACCACACAACTACACACACCACACACACACCCCACACATGCAC TACACACATCACACACCACACGCACCACACACTACACACACCACACACAT CACATACCACACACACCACACACACTACACACACCACCACACACACACCA CACACCAGACACACCACACGCACCACACACTACACATGCCACACACACAT CACACATGCACCATACACACCAGACACCCTACATACACCACACACATCAC ACACTCACCACAGGCACCACACATATTACACACACCGCACACACCACACA CCACACACCACACACATCACACACTTACCACATGCACCACACACACTACA CACACCACACACATCACACACTTACAACACACACCACATCACACACACTA CACACACCATACACACACCCCTCACATACCATACACTACACACAACACAC ACACTGCCCCCCATACCACACACATATACTTCCCAGGCACCCCAAAACAC CATACACCACACACACGCCATACACACACCACACACACCACATACACCAC ACACACCACATACACCACACACTACACACTCTACACATACACACTACACA CACCACACACACTCACTGCCCCCCACACCACACACATATACCTCCCACAC TTTACACACATTCACATACCACACACACACCACACACCACAAATACACAT TCACCACCCCCATACCACACACAACCCAGAAACACACACAAAACACACAC TATACACACACAGCACACACACTCCTTATACACACACCACACACTACATG CACACACACAACTCTCATAGTGCACAGCACACCATACACCACCCAGCCAC CACATACACATCTCATATCACACACACTCCTTATGCCACATACACACACC ACACATCACACTCCCATCACACACACTATAC	GPA33	ENSG00000143167.12	transcript	ENST00000367868.4	protein_coding	4/6			chr1	TogoVar
HTRA3_chr4_8264754_8312098	8294616	C C	CCATCCAT others(1104): Show CCATCCATCCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATTC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATACATCTGTCCAT CCATCCATCCACCCACCCACCTATCCACCCATCCATTCACCCATCCATTC ATCCATCCGTCCATCCATCCATCCATCCATCCATCCATCCACTTATCCAC CCATCCACCCACCCATCCATCTATCCATTCACCCATCCATTCACTCATTC ATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCTATCCATCCAT CTATCCATTCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCA TCTTTCCACCCACCCATTTACCATCCATCCATCCATCCACCTATCCACCC ACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCAC CCACTCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATA TACCATCCATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCAC CCACCCATCTATCCATCCATTCACCCATCCATTCACTCATTCATCCATCC ATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCCACCCATCCAC CCACACACCCATCCATCCACCCACCCATTTACCATCCATCCATCCATCCA TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATCCATTGACC CATCCATTCACTCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCA TCCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATC CACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCATTCA CCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATT CATCCATCCACT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	388	0.0026	1111	c.105 others(1128): Show c.1051+425_1051+426insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCACCCATCCATCCATCCATCCATCCATCCATCCATCCATA CATCTGTCCATCCATCCATCCACCCACCCACCTATCCACCCATCCATTCA CCCATCCATTCATCCATCCGTCCATCCATCCATCCATCCATCCATCCATC CACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCA TTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACC TATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCA TCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATC CATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCC ACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCA CCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATC CATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCAT CCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCC ACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATC CACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCA TTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACC CACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCAT CCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTATCC ATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCCCAC CCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCATCC ACCCACCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCAT CTATCCATTCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCC AATCATCCATTCATCCATCCACTCATCCATCCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294620	C C	CCACCCAC others(1104): Show CCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATTCACCCATCC ATCCATCCATCCATCCATCCATCCATCCATACATCTGTCCATCCATCCAT CCACCCACCCACCTATCCACCCATCCATTCACCCATCCATTCATCCATCC GTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTTATCCAC CCATCCACCCACCCATCCATCTATCCATTCACCCATCCATTCACTCATTC ATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCTATCCATCCAT CTATCCATTCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCA TCTTTCCACCCACCCATTTACCATCCATCCATCCATCCACCTATCCACCC ACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCAC CCACTCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATA TACCATCCATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCAC CCACCCATCTATCCATCCATTCACCCATCCATTCACTCATTCATCCATCC ATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCCACCCATCCAC CCACACACCCATCCATCCACCCACCCATTTACCATCCATCCATCCATCCA TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATCCATTGACC CATCCATTCACTCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCA TCCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATC CACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCATTCA CCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATT CATCCATCCACT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG02809.hp1 HG03098.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0008 a0008c0013t0019 a0001c0001t0008 a0008c0013t0019	a0001c0001t0008g0175 a0008c0013t0019g0348 a0001c0001t0008g0175 a0008c0013t0019g0348	2	388	0.0052	1111	c.105 others(1128): Show c.1051+421_1051+422insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCACCCATCCATCCATCCATCCATCCATCCATCCATCCATA CATCTGTCCATCCATCCATCCACCCACCCACCTATCCACCCATCCATTCA CCCATCCATTCATCCATCCGTCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCA CCCATCCATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATC CACCCACCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCA TCCACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATC CATCCATCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCC ATCCACCCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCA TCCATCCACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATC CAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCA CCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCC ATCTTTCCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATC CACTTATCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCA TTCACTCATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATC CACCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTA CCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCC ATCTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACAT CCGCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCC ATCCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCTAT CCATCCATCTATCCATTCACCCACCCACCCATCCATCCATCCATCCACCC ATCCATCCAATCATCCATTCATCCATCCACTCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294620	C C	CCATCCAC others(1104): Show CCATCCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATTCACCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATACATCTGTCCAT CCATCCATCCACCCACCCACCTATCCACCCATCCATTCACCCATCCATTC ATCCATCCGTCCATCCATCCATCCATCCATCCATCCATCCACTTATCCAC CCATCCACCCACCCATCCATCTATCCATTCACCCATCCATTCACTCATTC ATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCTATCCATCCAT CTATCCATTCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCA TCTTTCCACCCACCCATTTACCATCCATCCATCCATCCACCTATCCACCC ACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCAC CCACTCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATA TACCATCCATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCAC CCACCCATCTATCCATCCATTCACCCATCCATTCACTCATTCATCCATCC ATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCCACCCATCCAC CCACACACCCATCCATCCACCCACCCATTTACCATCCATCCATCCATCCA TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATCCATTGACC CATCCATTCACTCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCA TCCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATC CACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCATTCA CCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATT CATCCATCCACT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	388	0.0026	1111	c.105 others(1128): Show c.1051+425_1051+426insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATACATCTGTCCATCCATCCATCCACCCACCCACCTATCCACCCATCCA TTCACCCATCCATTCATCCATCCGTCCATCCATCCATCCATCCATCCATC CATCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCA TCCATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACC CACCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCA CCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCC ACCCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCA TCCACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAAT CATCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCAT CCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCT TTCCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACT TATCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCA CTCATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACC CACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCAT CCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCT ATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGC CCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCC ATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCTATCCAT CCATCTATCCATTCACCCACCCACCCATCCATCCATCCATCCACCCATCC ATCCAATCATCCATTCATCCATCCACTCATCCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294624	C C	CCACCCAC others(1104): Show CCACCCACCCACCCACCCACCTATCCGCCCATCCATTCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATACATCTGTCCAT CCATCCATCCACCCACCCACCTATCCACCCATCCATTCACCCATCCATTC ATCCATCCGTCCATCCATCCATCCATCCATCCATCCATCCACTTATCCAC CCATCCACCCACCCATCCATCTATCCATTCACCCATCCATTCACTCATTC ATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCTATCCATCCAT CTATCCATTCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCA TCTTTCCACCCACCCATTTACCATCCATCCATCCATCCACCTATCCACCC ACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCAC CCACTCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATA TACCATCCATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCAC CCACCCATCTATCCATCCATTCACCCATCCATTCACTCATTCATCCATCC ATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCCACCCATCCAC CCACACACCCATCCATCCACCCACCCATTTACCATCCATCCATCCATCCA TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATCCATTGACC CATCCATTCACTCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCA TCCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATC CACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCATTCA CCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATT CATCCATCCACT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	388	0.0026	1111	c.105 others(1128): Show c.1051+425_1051+426insCCCACCCACCCACCCACCTATCCGCCCA TCCATTCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATACATCTGTCCATCCATCCATCCACCCACCCACCTATCCACCCA TCCATTCACCCATCCATTCATCCATCCGTCCATCCATCCATCCATCCATC CATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCA CCCATCCATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATC CACCCACCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCA TCCACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATC CATCCATCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCC ATCCACCCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCA TCCATCCACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATC CAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCA CCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCC ATCTTTCCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATC CACTTATCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCA TTCACTCATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATC CACCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTA CCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCC ATCTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACAT CCGCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCC ATCCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCTAT CCATCCATCTATCCATTCACCCACCCACCCATCCATCCATCCATCCACCC ATCCATCCAATCATCCATTCATCCATCCACTCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294624	C C	CCATCCAT others(1104): Show CCATCCATCCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATTC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATACATCTGTCCAT CCATCCATCCACCCACCCACCTATCCACCCATCCATTCACCCATCCATTC ATCCATCCGTCCATCCATCCATCCATCCATCCATCCATCCACTTATCCAC CCATCCACCCACCCATCCATCTATCCATTCACCCATCCATTCACTCATTC ATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCTATCCATCCAT CTATCCATTCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCATCCAC CATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCA TCTTTCCACCCACCCATTTACCATCCATCCATCCATCCACCTATCCACCC ACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCAC CCACTCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACC TTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATA TACCATCCATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCAC CCACCCATCTATCCATCCATTCACCCATCCATTCACTCATTCATCCATCC ATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCCACCCATCCAC CCACACACCCATCCATCCACCCACCCATTTACCATCCATCCATCCATCCA TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATCCATTGACC CATCCATTCACTCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCA TCCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATC CACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCATTCA CCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATT CATCCATCCACT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	388	0.0026	1111	c.105 others(1128): Show c.1051+433_1051+434insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCACCCATCCATCCATCCATCCATCCATCCATCCATCCATA CATCTGTCCATCCATCCATCCACCCACCCACCTATCCACCCATCCATTCA CCCATCCATTCATCCATCCGTCCATCCATCCATCCATCCATCCATCCATC CACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCA TTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACC TATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCA TCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATC CATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCC ACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCA CCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATC CATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCAT CCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCC ACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATC CACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCA TTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACC CACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCAT CCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTATCC ATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCCCAC CCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCATCC ACCCACCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCAT CTATCCATTCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCC AATCATCCATTCATCCATCCACTCATCCATCCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MIOX_chr22_50481859_50495648	50495456	C C	CCCTCCCC others(1104): Show CCCTCCCCAGTTGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGTCAGGCTGGT CTTGAACTCCTGAACTCAGGTAATCCACCTGCCTCGGCCTCCCAAAGGGT TGGGATAACAGGTGTGAGCCACCGCGCTCGGCTCTAATTTTTCAAAATAA CTTTATTAAGAAACAGAGGATGGGCCAGGTGCAGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGATC AAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGACAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCACGCCACTGCACTCCAGCCTGGGTGGTGACACAGCGAGCTCC ATCTCAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAGAGGAGGCTGAGTG AGGTGGCTTATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCAGCAGG ATCGCTTGAGGTCAGGAATTCGAGACCAGGCTGGCTAACATGTTGAGACC CTATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCACCT GTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAGGCACAGTTTACAGTGAACAGAGATCACACCAGTGCACTCCAGCCTGG GTAACAGAGGGAGACTCAGTCTCAAAAACAAACAAACAAACACACACACA CACACACACACAAAAACAGGAAAGATACATAATTCATAACCAAAGGAATG GAAGGGTTTACAGCACATTTGCTATACCCCATGGCAACTTAGAGAAATGG GCTGGGCTGGCACCCATGACAAGGCACCAAAGCCCTGATTCCTCATTTTC TTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGCCCAGGCTGGAGTGCAG CGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATT CTCCTGCCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03654.hp1 HG03688.hp2 HG03098.hp2 HG03654.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0009 a0001c0001t0023g0017 a0001c0001t0003g0009 a0001c0001t0023g0017	3	436	0.0069	1111	c.56 others(1122): Show c.5600_*5601insCCTCCCCAGTTGCTGGGATTACAGGTGCCCACCA CCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGT GTTGGTCAGGCTGGTCTTGAACTCCTGAACTCAGGTAATCCACCTGCCTC GGCCTCCCAAAGGGTTGGGATAACAGGTGTGAGCCACCGCGCTCGGCTCT AATTTTTCAAAATAACTTTATTAAGAAACAGAGGATGGGCCAGGTGCAGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCA TGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGTGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGGT GACACAGCGAGCTCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAGAAAG AGAGGAGGCTGAGTGAGGTGGCTTATGCCCGTAATCCCAGCACTTTGGGA GGCCAAGGCAGCAGGATCGCTTGAGGTCAGGAATTCGAGACCAGGCTGGC TAACATGTTGAGACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCA TGGTGGCACGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAGGCACAGTTTACAGTGAACAGAGATCACACCAG TGCACTCCAGCCTGGGTAACAGAGGGAGACTCAGTCTCAAAAACAAACAA ACAAACACACACACACACACACACACAAAAACAGGAAAGATACATAATTC ATAACCAAAGGAATGGAAGGGTTTACAGCACATTTGCTATACCCCATGGC AACTTAGAGAAATGGGCTGGGCTGGCACCCATGACAAGGCACCAAAGCCC TGATTCCTCATTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGCC CAGGCTGGAGTGCAGCGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCC CGGGTTCACACCATTCTCCTGCCTCAG	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding		4809		chr22	TogoVar
MIOX_chr22_50481859_50495648	50495456	C C	CCCTCCCC others(1104): Show CCCTCCCCAGTTGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGTCAGGCTGGT CTTGAACTCCTGAACTCAGGTAATCCACCTGCCTCGGCCTCCCAAAGGGT TGGGATAACAGGTGTGAGCCACCGCGCTCGGCTCTAATTTTTCAAAATAA CTTTATTAAGAAACAGAGGATGGGCCAGGTGCAGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGATC AAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGACAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCACGCCACTGCACTCCAGCCTGGGTGGTGACACAGCGAGCTCC ATCTCAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAGAGGAGGCTGAGTG AGGTGGCTTATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCAGCAGG ATCGCTTGAGGTCAGGAATTCGAGACCAGGCTGGCTAACATGTTGAGACC CTATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCACCT GTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAGGCACAGTTTACAGTGAACAGAGATCACACCAGTGCACTCCAGCCTGG GTAACAGAGGGAGACTCAGTCTCAAAAACAAACAAACAAACACACACACA CACACACACACAAAAACAGGAAAGATACATAATTCATAACCAAAGGAATG GAAGGGTTTACAGCACATTTGCTATATCCCATGGCAACTTAGAGAAATGG GCTGGGCTGGCACCCATGACAAGGCACCAAAGCCCTGATTCCTCATTTTC TTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGCCCAGGCTGGAGTGCAG CGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATT CTCCTGCCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02055.hp1 HG02896.hp2 others(4): Show HG01358.hp1 HG02055.hp1 HG02896.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0001 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0003	7	436	0.0161	1111	c.56 others(1122): Show c.5600_*5601insCCTCCCCAGTTGCTGGGATTACAGGTGCCCACCA CCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGT GTTGGTCAGGCTGGTCTTGAACTCCTGAACTCAGGTAATCCACCTGCCTC GGCCTCCCAAAGGGTTGGGATAACAGGTGTGAGCCACCGCGCTCGGCTCT AATTTTTCAAAATAACTTTATTAAGAAACAGAGGATGGGCCAGGTGCAGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCA TGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGTGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGGT GACACAGCGAGCTCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAGAAAG AGAGGAGGCTGAGTGAGGTGGCTTATGCCCGTAATCCCAGCACTTTGGGA GGCCAAGGCAGCAGGATCGCTTGAGGTCAGGAATTCGAGACCAGGCTGGC TAACATGTTGAGACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCA TGGTGGCACGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAGGCACAGTTTACAGTGAACAGAGATCACACCAG TGCACTCCAGCCTGGGTAACAGAGGGAGACTCAGTCTCAAAAACAAACAA ACAAACACACACACACACACACACACAAAAACAGGAAAGATACATAATTC ATAACCAAAGGAATGGAAGGGTTTACAGCACATTTGCTATATCCCATGGC AACTTAGAGAAATGGGCTGGGCTGGCACCCATGACAAGGCACCAAAGCCC TGATTCCTCATTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGCC CAGGCTGGAGTGCAGCGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCC CGGGTTCACACCATTCTCCTGCCTCAG	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding		4809		chr22	TogoVar
MIOX_chr22_50481859_50495648	50495456	C C	CCCTCCCC others(1104): Show CCCTCCCCAGTTGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGTCAGGCTGGT CTTGAACTCCTGAACTCAGGTAATCCACCTGCCTCGGCCTCCCAAAGGGT TGGGATAACAGGTGTGAGCCACCGCGCTCGGCTCTAATTTTTCAAAATAA CTTTATTAAGAAACAGAGGATGGGCCAGGTGCAGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGATC AAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGACAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCACGCCACTGCACTCCAGCCTGGGTGGTGACACAGCGAGCTCC ATCTCAAAAAAAAAAAAAAAAGAAAAGAAGGAAAGAGAGGAGGCTGAGTG AGGTGGCTTATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCAGCAGG ATCGCTTGAGGTCAGGAATTCGAGACCAGGCTGGCTAACATGTTGAGACC CTATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCACCT GTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAGGCACAGTTTACAGTGAACAGAGATCACACCAGTGCACTCCAGCCTGG GTAACAGAGGGAGACTCAGTCTCAAAAACAAACAAACAAACACACACACA CACACACACACAAAAACAGGAAAGATACATAATTCATAACCAAAGGAATG GAAGGGTTTACAGCACATTTGCTATATCCCATGGCAACTTAGAGAAATGG GCTGGGCTGGCACCCATGACAAGGCACCAAAGCCCTGATTCCTCATTTTC TTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGCCCAGGCTGGAGTGCAG CGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATT CTCCTGCCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG06807.hp1 NA18522.hp1 HG02257.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0002t0001g0095 a0001c0002t0003g0014 a0001c0001t0001g0001 a0001c0002t0001g0095 a0001c0002t0003g0014	3	436	0.0069	1111	c.56 others(1122): Show c.5600_*5601insCCTCCCCAGTTGCTGGGATTACAGGTGCCCACCA CCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGT GTTGGTCAGGCTGGTCTTGAACTCCTGAACTCAGGTAATCCACCTGCCTC GGCCTCCCAAAGGGTTGGGATAACAGGTGTGAGCCACCGCGCTCGGCTCT AATTTTTCAAAATAACTTTATTAAGAAACAGAGGATGGGCCAGGTGCAGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCA TGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGTGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGGT GACACAGCGAGCTCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAGGAAAG AGAGGAGGCTGAGTGAGGTGGCTTATGCCCGTAATCCCAGCACTTTGGGA GGCCAAGGCAGCAGGATCGCTTGAGGTCAGGAATTCGAGACCAGGCTGGC TAACATGTTGAGACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCA TGGTGGCACGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAGGCACAGTTTACAGTGAACAGAGATCACACCAG TGCACTCCAGCCTGGGTAACAGAGGGAGACTCAGTCTCAAAAACAAACAA ACAAACACACACACACACACACACACAAAAACAGGAAAGATACATAATTC ATAACCAAAGGAATGGAAGGGTTTACAGCACATTTGCTATATCCCATGGC AACTTAGAGAAATGGGCTGGGCTGGCACCCATGACAAGGCACCAAAGCCC TGATTCCTCATTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGCC CAGGCTGGAGTGCAGCGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCC CGGGTTCACACCATTCTCCTGCCTCAG	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding		4809		chr22	TogoVar
MIOX_chr22_50481859_50495648	50495456	C C	CCCTCCCC others(1104): Show CCCTCCCCAGTTGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGTCAGGCTGGT CTTGAACTCCTGAACTCAGGTAATCCACCTGCCTCGGCCTCCCAAAGGGT TGGGATAACAGGTGTGAGCCACCGCGCTCGGCTCTAATTTTTCAAAATAA CTTTATTAAGAAACAGAGGATGGGCCAGGTGCAGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGATC AAGACCATCCTGGCTGACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGACAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCACGCCACTGCACTCCAGCCTGGGTGGTGACACAGCGAGCTCC ATCTCAAAAAAAAAAAAAAAAGAAAAGAAAGAAAGAGAGGAGGCTGAGTG AGGTGGCTTATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCAGCAGG ATCGCTTGAGGTCAGGAATTCGAGACCAGGCTGGCTAACATGTTGAGACC CTATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGCACCT GTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAGGCACAGTTTACAGTGAACAGAGATCACACCAGTGCACTCCAGCCTGG GTAACAGAGGGAGACTCAGTCTCAAAAACAAACAAACAAACACACACACA CACACACACACAAAAACAGGAAAGATACATAATTCATAACCAAAGGAATG GAAGGGTTTACAGCACATTTGCTATACCCCATGGCAACTTAGAGAAATGG GCTGGGCTGGCACCCATGACAAGGCACCAAAGCCCTGATTCCTCATTTTC TTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGCCCAGGCTGGAGTGCAG CGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATT CTCCTGCCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01070.hp1 others(4): Show HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01175.hp1 HG01346.hp1 HG01496.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0013t0011	a0001c0001t0002g0003 a0001c0001t0003g0001 a0001c0001t0014g0003 others(1): Show a0001c0001t0002g0003 a0001c0001t0003g0001 a0001c0001t0014g0003 a0001c0013t0011g0017	7	436	0.0161	1111	c.56 others(1122): Show c.5600_*5601insCCTCCCCAGTTGCTGGGATTACAGGTGCCCACCA CCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGT GTTGGTCAGGCTGGTCTTGAACTCCTGAACTCAGGTAATCCACCTGCCTC GGCCTCCCAAAGGGTTGGGATAACAGGTGTGAGCCACCGCGCTCGGCTCT AATTTTTCAAAATAACTTTATTAAGAAACAGAGGATGGGCCAGGTGCAGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCA TGAGGTCAGGAGATCAAGACCATCCTGGCTGACACAGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGTGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGGT GACACAGCGAGCTCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAGAAAG AGAGGAGGCTGAGTGAGGTGGCTTATGCCCGTAATCCCAGCACTTTGGGA GGCCAAGGCAGCAGGATCGCTTGAGGTCAGGAATTCGAGACCAGGCTGGC TAACATGTTGAGACCCTATCTCTACTAAAAATACAAAAATTAGCTGGGCA TGGTGGCACGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAGGCACAGTTTACAGTGAACAGAGATCACACCAG TGCACTCCAGCCTGGGTAACAGAGGGAGACTCAGTCTCAAAAACAAACAA ACAAACACACACACACACACACACACAAAAACAGGAAAGATACATAATTC ATAACCAAAGGAATGGAAGGGTTTACAGCACATTTGCTATACCCCATGGC AACTTAGAGAAATGGGCTGGGCTGGCACCCATGACAAGGCACCAAAGCCC TGATTCCTCATTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGCC CAGGCTGGAGTGCAGCGGCGGGATCTCAGCTCACTGCAAGCTCCGCCTCC CGGGTTCACACCATTCTCCTGCCTCAG	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding		4809		chr22	TogoVar
PCSK6_chr15_101298933_101494707	101311836	C C	CCCCTCAC others(1104): Show CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCG TCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCA TCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCA TCGTCACACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCC CATCGTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACC CCATCGTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCAC CCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCAC CCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0105 a0001c0004t0001g0105	1	336	0.0030	1111	c.269 others(1130): Show c.2699+1539_2699+1540insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAG GGTGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGAGCTGTG AGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTG AGGGGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTG TGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTG TGAGGGGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCT GTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGC TGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGC TGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGC TGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGC TGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGG CTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGG CTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGG CTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGG CTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1104): Show AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGGAG GTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CGCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCC GTCCGGGAGGAT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0045 a0004c0008t0004g0045	1	134	0.0075	1111	c.575 others(1132): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar

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