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
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(640): Show CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGC GAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCT CTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGC AAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGA CTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAG GCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCG TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCC CTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	286	0.0035	647	c.335 others(666): Show c.335-28634_335-28633insTCAGCAGGCCCCTCCGGTGGGCGAGG ACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCA GGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA CACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGA GGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCC GGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACT CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(640): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCA GGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAG TCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGG AGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	295	0.0034	647	c.809 others(664): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGAGGTGCAGG GAAGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAG GAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTG CAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGAGGTCCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(640): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCG TCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGG GGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0054 a0001c0002t0053 a0001c0002t0054	a0001c0002t0053g0271 a0001c0002t0054g0267 a0001c0002t0053g0271 a0001c0002t0054g0267	2	295	0.0068	647	c.809 others(664): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGAGGTGCAGG GAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATG CTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGAGGTCCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(640): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCG TCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGG GGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGTGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0106 a0001c0002t0019g0106	1	295	0.0034	647	c.809 others(664): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGAGGTGCAGG GAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATG CTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGAGGTCCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCTGGGGTGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(640): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0155 a0001c0002t0016g0155	1	295	0.0034	647	c.126 others(666): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(640): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATAATATGTAATACACAATATATATTATATAATAATATG TAATACACAATATATTATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGT AATACATTATACATTATTATATAAGTATATGTAATATATATTATACATTA TTATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATAA TATATAATACATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	220	0.0046	647	c.24+ others(664): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATAATATGTAATACACAA TATATATTATATAATAATATGTAATACACAATATATTATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACATTATA CATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATA TGTAATATATATTATACATTATTATATAAGTATATGTAATATATATTATA CATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAG CATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(640): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGT AATACATTATACATTATTATATAAGTATATGTAATATATATTATACATTA TTATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATAA TATATAATACATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	220	0.0046	647	c.24+ others(664): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACATTATA CATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATA TGTAATATATATTATACATTATTATATAAGTATATGTAATATATATTATA CATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAG CATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
SERINC2_chr1_31408213_31439678	31431975	A A	AGAGGGTG others(640): Show AGAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGATGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA GAGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGG GTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGATGGTTAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGATGGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	376	0.0027	647	c.101 others(664): Show c.1014-992_1014-991insGAGGGTGGATAGGGTGGATAGGATGGTT AGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGAGAGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGACAGGATGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SIGIRR_chr11_400716_419999	401226	C C	CCCGCCCG others(640): Show CCCGCCCGCTCACACCCGCCCGCTCACCCCGGCCCCGCTCACCCCCGGCC CCGCTCACTCACGCCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCC CGCTCACACCCGCCCCGCTCACAACCCCGGCCCCGCTCTCACACCCCGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCGCTC ACACCCGCCCCGCTCACACCCCGCCCGCTCACCCCGCCCCGCTCACACCC CGCCTCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGC CCGCTCACACCCCGCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTC ACACCCGGCCCCCGCTCACACCCGGCCCCGCTCACACCCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCCGCCCCGCTCACACCCGCTCCCGCTCACA GCCCCCCGGCCCCGCTCACACCCCCGGCCCCGCTCACACCCGCGCCCCGC TCACACCCGCCCCGCTCACACCGCCCGCTCACACCCGGCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	242	0.0041	647	c.46 others(658): Show c.4669_*4670insTGTGAGCGGGCCGGGTGTGAGCGGGCGGTGTGAG CGGGGCGGGTGTGAGCGGGGCGCGGGTGTGAGCGGGGCCGGGGGTGTGAG CGGGGCCGGGGGGCTGTGAGCGGGAGCGGGTGTGAGCGGGGCGGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGGTGTGAGCGGGGCCGGGTGTGAG CGGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCGGGGTGTGAGCGGG CGGGGTGTGAGCGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG TGTGAGCGGAGGCGGGGTGTGAGCGGGGCGGGGTGAGCGGGCGGGGTGTG AGCGGGGCGGGTGTGAGCGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGG GCGGGTGTGAGCGGGGCGGGGTGTGAGAGCGGGGCCGGGGTTGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GCGTGAGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGTGAGCGGGCGGG TGTGAGCGGGCGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4489		chr11	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(640): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGGAGGGGGGAGGGTGGGGAG GGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAGA GGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAGA GGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGACG GGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGAG GGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGAGGGAGGGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGG AGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGG GGAGGAGGGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	647	c.12 others(658): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCC CCTCCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCT CCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCT CCCCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCC CCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CTCCTCCCCTCCCCCTCCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCTC CCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCA CCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTC CCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCC TGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCTTCCTTCCTC CCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(640): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAG GGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGG AGAGGGGAGGGGAGGGGAAGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGG GGAGGAGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGG GGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGGGGGTGGCGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	647	c.12 others(658): Show c.1221_*1222insTCCCCGCCACCCCCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTT CCCCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCTTCCC CTCCCCTCCCCTCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCT CCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCT CCCCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCC CCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC TCCTCCCCTCCCCCTCCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCTCC CCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCAC CCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCC CCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCT GCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTC CCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(640): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGG GGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGG GGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGA GGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAG GGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAGGGG GGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	647	c.12 others(658): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCCTCTCCCCTCCCTCCTCCCCCTTCCCC CTTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCC CCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTC TCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCT CCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCC CTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCC TCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(640): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	322	0.0031	647	c.909 others(662): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(640): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03654.hp1 HG04115.hp2 HG01346.hp1 HG03654.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0084 a0001c0001t0005 a0001c0001t0008 a0001c0001t0084	a0001c0001t0005g0296 a0001c0001t0008g0190 a0001c0001t0084g0298 a0001c0001t0005g0296 a0001c0001t0008g0190 a0001c0001t0084g0298	3	322	0.0093	647	c.597 others(664): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(640): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGGGATGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGG AGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAA GGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGG GGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAG GGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0281 a0001c0001t0064g0281	1	322	0.0031	647	c.597 others(664): Show c.597+1546_597+1547insTCCCCCCCCTCCCTCCTTCCTTTCCTCC CTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCC CTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTC CTCCCCCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCCCCCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCATCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TAFA5_chr22_48484553_48756932	48638361	C C	CCCGACAC others(640): Show CCCGACACTAAGCCCTGGGACACCGCACACAGGGGGGACCCCGACACTAA GCCCTGGGACACCGCACACAGGCAGCACCCCTCCCCCGACACTAAGCCCT GGGTCACCGCACACGGGGGGACCCCAACACTAAGCCCTGGGACACCACAC ACAGGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAGGCGGGAC CCCGACACTAAGCCCTGGGTCACCACACACAGGCAATACCCCTCCCCTGA CACTAAGCCACACATAGGCAACAACCCCCCACACACACTAAGCCCTGGGC CACACACAGGCAATACCACCCCCCCCGACACTAAGCCCTGGGACACCGCA CACAGGCAGCACCCCTCCCCCGACACTAAGCCCTGGGTCACCGCACACAG GGGGGACCCCAACACTAAGCCCTGGGACACCACACACAGGGGGGACCCCG ACACTAAGCCCTGGGACACCACACACAGGCGGGACCCCGACACTAAGCCC TGGGTCACCACACACAGGCAATACCCCTCCCCTGACACTAAGCCACACAT AGGCAACAACCCCCCCCCCACACACTAAGCCCTGGGCCACACACAGGCAA TACCACCCCCCCCGACACTAAGCCCTGGGACACCGCACACAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	258	0.0039	647	c.113 others(664): Show c.113-8234_113-8233insGACACTAAGCCCTGGGACACCGCACACA GGGGGGACCCCGACACTAAGCCCTGGGACACCGCACACAGGCAGCACCCC TCCCCCGACACTAAGCCCTGGGTCACCGCACACGGGGGGACCCCAACACT AAGCCCTGGGACACCACACACAGGGGGGACCCCGACACTAAGCCCTGGGA CACCACACACAGGCGGGACCCCGACACTAAGCCCTGGGTCACCACACACA GGCAATACCCCTCCCCTGACACTAAGCCACACATAGGCAACAACCCCCCA CACACACTAAGCCCTGGGCCACACACAGGCAATACCACCCCCCCCGACAC TAAGCCCTGGGACACCGCACACAGGCAGCACCCCTCCCCCGACACTAAGC CCTGGGTCACCGCACACAGGGGGGACCCCAACACTAAGCCCTGGGACACC ACACACAGGGGGGACCCCGACACTAAGCCCTGGGACACCACACACAGGCG GGACCCCGACACTAAGCCCTGGGTCACCACACACAGGCAATACCCCTCCC CTGACACTAAGCCACACATAGGCAACAACCCCCCCCCCACACACTAAGCC CTGGGCCACACACAGGCAATACCACCCCCCCCGACACTAAGCCCTGGGAC ACCGCACACAGGGGGGACC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89884880	C C	CCCCTCTC others(640): Show CCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTC TCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCC TGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTG CCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCC TCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCC TGACCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCC TCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCT GCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0266 a0001c0005t0001g0266	1	300	0.0033	647	c.429 others(662): Show c.429+308_429+309insTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTC TGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCC GTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGACG CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGA CGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTC CCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTG ACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCT CCCTCTGCCTGACGCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89884880	C C	CCCCTCTC others(640): Show CCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTC TCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCC TGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCT CTCCGTCTGCCTGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTG CCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCC TCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCC TGACCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCC TCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCT GCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0268 a0001c0005t0001g0268	1	300	0.0033	647	c.429 others(662): Show c.429+308_429+309insTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTC TGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCGTCTGCCTGAC GCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCC GTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGACG CCCTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCCTGACCCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGA CGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTC CCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTG ACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCT CCCTCTGCCTGACGCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1273645	A A	AACCGCCA others(640): Show AACCGCCATCTAGTCACCACACATCAGACCCCCGTGATCGACCGCCATCC ACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCTG TGACCGATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCTACG ACCGCCATCCACAGTCACCACATCAGACCCCTGTGACCGATCACCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACC GCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	392	0.0026	647	c.228 others(666): Show c.2287-1366_2287-1365insCGTGGGGTCTGATGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGATCACGGGGGTCTGAT GTGTGGTGACTAGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TRIML1_chr4_188134441_188152743	188152383	T T	TGAGAAGG others(640): Show TGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGAGAGAAGGGGAGTGAGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGATGAGAAAGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA GAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGTGT GGGGGTTGAGAAGGGGAGGGAGAGAGAGGGTGAGAAGGGGAGTGAGTGGG GGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	228	0.0044	647	c.50 others(658): Show c.5011_*5012insGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGG AGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGAGAGAAGGGGAGTG AGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG AGGGGATGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAG GGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGAAGTGAGTGTGGGGGTTGAGAAGGGGAGGGAGAGAGAGGGTGAGA AGGGGAGTGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGTGGGGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4641		chr4	TogoVar
TTLL8_chr22_50013575_50063298	50029095	A A	ATCCTGAA others(640): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACAC CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC CCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02300.hp1 HG02293.hp2 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0082 a0002c0002t0001g0072 a0002c0002t0001g0082	2	224	0.0089	647	c.225 others(666): Show c.2251+1334_2251+1335insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029095	A A	ATCCTGAA others(640): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC CACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACAC CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC CCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	224	0.0045	647	c.225 others(666): Show c.2251+1334_2251+1335insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UCN3_chr10_5359966_5379692	5370245	G G	GTATGTGT others(640): Show GTATGTGTGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTATATGCGT GTGTATATGTGTGTATATGTGTGTGTATGTGTGCGTGTATGTGTGTATGT GTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTATGTGTGTGTAT GTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGT GTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGT GTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTAT GTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTTCATGTGTAT GTGTGTAAGGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTGTATGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTG TGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTATA CGTGTGTATATGTGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATG TGTGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTA TATGTGTGTGTATGTCTGTGTATATGTGTGTGTATATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0399 a0002c0002t0005g0399	1	468	0.0021	647	c.-6- others(662): Show c.-6-3466_-6-3465insTGTGTGTGTGTGTATATGTGTGTGTGTGTG TGTGTGTATATGCGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGCG TGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTG TGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTA TGTGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTA TATGCGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGTG TGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGT GTGTGTATATGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGT GTATGTGTGTGTATACGTGTGTATATGTGTGTGTGTATATGTGCGTGTAT ATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTATGTGT GTGTATGTGTGTGTATATGTGTGTGTATGTCTGTGTATATGTGTGTGTAT ATGTGTGTGTGTATATG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
VAMP2_chr17_8154149_8167948	8166157	G G	GTGGTTCA others(640): Show GTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAGGTGGAT CACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCAT CTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCCTGGGCT ACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA AAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTCATCC ACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTGTGTG TCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAGAAAG GTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCTCCAG GCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAAGGAG GGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATTGCCA CATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0052 a0001c0001t0058g0052	1	414	0.0024	647	c.-32 others(658): Show c.-3279_-3278insAGACTTCGTCTCAAAAATAAGTAAAAATAAAAAC AAATTGAGCACATGTGGCAATCCATGCCAACTGTCTGGCACACAGTGGGT CCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTGGACAGGCAGCTCT GAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCACAGCTGATTGCAAT GGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGCCTTTACTTCACAA GCTGCACTGAGGGACACACAGGCCTCTGAAATTAATTATAAGTTCAGTCA GGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCAGTGTGGGAACGAC CCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGAT CTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGGATTA CAGGCCTGAACCA	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3210		chr17	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAGGG others(640): Show GGGAAGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGA GGGAGTGGAGGGAAGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGG AGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGG AGGGAGGGAAGTGAGGGGAGGGAGGGAGAGAAGTGAGGGGAGGGAGGGAG GGAAGGGAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGG GAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAG TGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGGG AGGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGC AGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAA GGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGA GGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02071.hp1 others(7): Show HG00597.hp1 HG02056.hp1 HG02071.hp1 HG02155.hp1 NA18944.hp2 NA18966.hp2 NA19007.hp1 NA19064.hp2 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0091 a0001c0001t0001g0092 others(7): Show a0001c0001t0001g0062 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0216	10	290	0.0345	647	c.205 others(666): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCA CTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCC TTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCC TCCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTCCCCTCACTTCTCTCCCT CCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCC CCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCT CCCTCCCCTTCCCTCCACTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCC TCCCTCCCTCCCCTCCCTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(640): Show GTATATATACATGTATATATATACAAGTATATATATATACTTGTATACAT ATATACTATATATATACATATATACACATATATACGTATATATGTATATA TACATATATACATGTATATACGTATATACATGTATATACGTATATATACA CATATATACATGTATATATGTATATATACACATATATACATGTATATATA CGTATATATACATGTATATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTATATATATACGTATATATACA CATATATACATGTATATATACATGTATATATACACATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTACGTATATATACACATA TATACATGTATATATATACGTATATATACACATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATATATACGTATATATACA TATATACGTATATATATATACGTATATATACATATATACATGTATATATA TATACGTATATATACATATATACATGTATATATATATACGTATATACACA TATATATACATGTATATATATGTGTATATATACATGTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0053 a0004c0009t0005g0053	1	383	0.0026	647	c.-42 others(658): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACTTGTATACATATATACTATATATATACATATATACACATATATAC GTATATATGTATATATACATATATACATGTATATACGTATATACATGTAT ATACGTATATATACACATATATACATGTATATATGTATATATACACATAT ATACATGTATATATACGTATATATACATGTATATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTATATAT ATACGTATATATACACATATATACATGTATATATACATGTATATATACAC ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAC GTATATATACACATATATACATGTATATATATACGTATATATACACATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAT ATACGTATATATACATATATACGTATATATATATACGTATATATACATAT ATACATGTATATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATACACATATATATACATGTATATATATGTGTATATATACAT GTATATATACATA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(640): Show GTATATATACATGTATATATATACAAGTATATATATATACTTGTATACAT ATATACTATATATATACATATATACACATATATACGTATATATGTATATA TACATATATACATGTATATACGTATATACATGTATATACGTATATATACA CATATATACATGTATATATGTATATATACACATATATACATGTATATATA CGTATATATACATGTATATATACGTATATATACACATATATACATGTATA TATACGTATATATACACATATATACATGTGTATATATACGTATATATACA CATATATACATGTATATATACATGTATATATACACATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTACGTATATATACACATA TATACATGTATATATATACGTATATATACACATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATATATACGTATATATACA TATATACGTATATATATATACGTATATATACATATATACATGTATATATA TATACGTATATATACATATATACATGTATATATATATACGTATATACACA TATATATACATGTATATATATGTGTATATATACATGTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02615.hp2 HG02818.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0024 a0004c0009t0005g0024	2	383	0.0052	647	c.-42 others(658): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACTTGTATACATATATACTATATATATACATATATACACATATATAC GTATATATGTATATATACATATATACATGTATATACGTATATACATGTAT ATACGTATATATACACATATATACATGTATATATGTATATATACACATAT ATACATGTATATATACGTATATATACATGTATATATACGTATATATACAC ATATATACATGTATATATACGTATATATACACATATATACATGTGTATAT ATACGTATATATACACATATATACATGTATATATACATGTATATATACAC ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAC GTATATATACACATATATACATGTATATATATACGTATATATACACATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAT ATACGTATATATACATATATACGTATATATATATACGTATATATACATAT ATACATGTATATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATACACATATATATACATGTATATATATGTGTATATATACAT GTATATATACATA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(640): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACGTATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATACATGTATATATACGTACG TATATATACATGTATATATACGTACGTATATATACATGTATATATACGTA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATACACATATATACATGTGTATATATGTGTATATATACACA TATATACATGTATATATATATACGTATATATACATATATACGTATATATA TACGTATATATACATATATACATGTATATATATATACGTATATACACATA TATATACATGTATATATATATACGTATATACACATATATATACATGTATA TATATATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	383	0.0026	647	c.-42 others(658): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACGTATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATACAT GTATATATACGTACGTATATATACATGTATATATACGTACGTATATATAC ATGTATATATACGTACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATACACATATATACATGTGTATATAT GTGTATATATACACATATATACATGTATATATATATACGTATATATACAT ATATACGTATATATATACGTATATATACATATATACATGTATATATATAT ACGTATATACACATATATATACATGTATATATATATACGTATATACACAT ATATATACATGTATATATATATATGTGTATATATACATGTATATATACAT ATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ACAP3_chr1_1287391_1312930	1290018	T T	TCCCCCGT others(641): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	295	0.0034	648	c.35 others(659): Show c.3545_*3546insGAATGGAGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGG GACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGGG CAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2372		chr1	TogoVar
ADCK5_chr8_144369047_144398242	144380600	C C	CAGGATTA others(641): Show CAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCG CAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCTGCACTAAGGATTATGGGCCGGGTGCAGAAACAGATGTGCGATCAGGC ACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTC AGGCACCTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGATGTGT GCTCAGGCACCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAGAAAC AGATGTGTGCTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGTGCAG AAACAGATGTGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCCGGGT GTAGAAAGAGATGTGTGCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCC GGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTAAGGATTATG GGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGGAT TATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp2 HG02257.hp2 others(1): Show HG01175.hp1 HG01884.hp2 HG02257.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128	4	346	0.0116	648	c.116 others(665): Show c.116+1122_116+1123insCGGGTGTAGAAACAGATGTGTGCTCAGG CACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCT CAGGCACCTGCTGCACTAAGGATTATGGGCCGGGTGCAGAAACAGATGTG CGATCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGA TGTGTGCTCAGGCACCTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAA CAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTATAAGCCGGGTGTA GAAACAGATGTGTGCTCAGGCACCTGCGGCACTCAGCATTATGGGCGGGG TGTAGAAACAGATGTGTGCTCAGACGCCTCCCGCACTCAGGATTATGGGC CGGGTGCAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTCAGGATTAT GGGCCGGGTGTAGAAAGAGATGTGTGCTCAGGCGCCTCCCGCAGTCAGGA TTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTA AGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGC AGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTG CTGCACTAAGGATTATGGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144380600	C C	CAGGATTA others(641): Show CAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCG CAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCTGCACTAAGGATTATGGGCCGGGTGCAGAAACAGATGTGCGATCAGGC ACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTC AGGCACCTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGATGTGT GCTCAGGCACCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAGAAAC AGATGTGTGCTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGTGCAG AAACAGATGTGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCCGGGT GTAGAAAGAGATGTGTGCTCAGGCGCCTCCTGCAGTCAGGATTATGGGCC GGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTAAGGATTATG GGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGGAT TATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01975.hp1 HG02257.hp1 others(3): Show HG01891.hp1 HG01975.hp1 HG02257.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131	6	346	0.0173	648	c.116 others(665): Show c.116+1122_116+1123insCGGGTGTAGAAACAGATGTGTGCTCAGG CACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCT CAGGCACCTGCTGCACTAAGGATTATGGGCCGGGTGCAGAAACAGATGTG CGATCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGA TGTGTGCTCAGGCACCTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAA CAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTATAAGCCGGGTGTA GAAACAGATGTGTGCTCAGGCACCTGCGGCACTCAGCATTATGGGCGGGG TGTAGAAACAGATGTGTGCTCAGACGCCTCCCGCACTCAGGATTATGGGC CGGGTGCAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTCAGGATTAT GGGCCGGGTGTAGAAAGAGATGTGTGCTCAGGCGCCTCCTGCAGTCAGGA TTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTA AGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGC AGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTG CTGCACTAAGGATTATGGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144380667	T T	TGGGTGTA others(641): Show TGGGTGTAGAAACAGATGTGTGCTCAGGCGCCTGCTGCACTCAGGATTAT GGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGGA TTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTA AGGATTATGGGCCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGC AGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTC CCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCA CCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCA GGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTG CTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATG TGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGA GATGTGTGCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGA AACAGATGTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGGGTG TAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGGCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	346	0.0029	648	c.116 others(665): Show c.116+1205_116+1206insGCCTGCTGCACTCAGGATTATGGGCCGG GTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGG CCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTA TGGGCCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGCAGTCAGG ATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGT CAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTG CACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTGCTCAGAC GCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATGTGTGCTC AGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGAGATGTGT GCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGGGTGTAGAAAC AGATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAG AAACAGATGTGTGCTCAGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144380667	T T	TGGGTGTA others(641): Show TGGGTGTAGAAACAGATGTGTGCTCAGGCGCCTGCTGCACTCAGGATTAT GGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACTTCCCGCAGTCAGGA TTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTA AGGATTATGGGCCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGC AGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTC CCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCA CCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCA GGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTG CTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATG TGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGA GATGTGTGCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGA AACAGATGTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGGGTG TAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGGCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	346	0.0029	648	c.116 others(665): Show c.116+1205_116+1206insGCCTGCTGCACTCAGGATTATGGGCCGG GTGTAGAAACAGATGTGTGCTCAGGCACTTCCCGCAGTCAGGATTATGGG CCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTA TGGGCCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGCAGTCAGG ATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGT CAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTG CACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTGCTCAGAC GCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATGTGTGCTC AGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGAGATGTGT GCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGGGTGTAGAAAC AGATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAG AAACAGATGTGTGCTCAGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(641): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACAACCATCAT CCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCACTA CCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCACCA TCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATCACT ACCATCATCCTCACTACCACCACCACCGTCACCATCAACCACCATCACCA TCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACC ACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATT ACCACAATCCTCACCACTACCACCATCACCACCTTCATCACCATCTTCAT CACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCA CCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCACC ATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCAC CACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG03225.hp2 others(3): Show HG02630.hp2 HG02717.hp1 HG03225.hp2 NA18998.hp2 NA19030.hp1 NA19074.hp2	a0002 a0003 a0026 others(1): Show a0002 a0003 a0026 a0028	a0002c0002 a0003c0007 a0026c0033 others(1): Show a0002c0002 a0003c0007 a0026c0033 a0028c0034	a0002c0002t0001 a0003c0007t0002 a0026c0033t0001 others(1): Show a0002c0002t0001 a0003c0007t0002 a0026c0033t0001 a0028c0034t0001	a0002c0002t0001g0039 a0003c0007t0002g0009 a0003c0007t0002g0276 others(2): Show a0002c0002t0001g0039 a0003c0007t0002g0009 a0003c0007t0002g0276 a0026c0033t0001g0185 a0028c0034t0001g0198	6	350	0.0171	648	c.135 others(665): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAAGATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGT GGTAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGG TGATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGT TGGTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACGGTGGT GGTGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGG TGGTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGA GGATGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAG ATAATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGATGGTGAGGGTGAT GGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATGT GGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(641): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACAACCATCAT CCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCACTA CCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCACCA TCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATCACT ACCATCATCCTCACTACCACCACCACCGTCACCATCAACCACCATCACCA TCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACC ACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATT ACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTTCAT CACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCA CCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCACC ATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCAC CACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01167.hp1 others(19): Show HG00597.hp1 HG00642.hp1 HG01167.hp1 HG01175.hp1 HG01884.hp2 HG01934.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02293.hp1 HG02523.hp1 HG02809.hp1 HG03017.hp1 HG03654.hp2 HG03688.hp2 HG04204.hp1 NA18954.hp1 NA18966.hp1 NA18973.hp1 NA19030.hp2 NA19067.hp1 NA19091.hp2	a0002 a0005 a0022 a0002 a0005 a0022	a0002c0002 a0005c0005 a0022c0038 a0002c0002 a0005c0005 a0022c0038	a0002c0002t0001 a0005c0005t0001 a0022c0038t0016 a0002c0002t0001 a0005c0005t0001 a0022c0038t0016	a0002c0002t0001g0016 a0002c0002t0001g0036 a0002c0002t0001g0037 others(19): Show a0002c0002t0001g0016 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0085 a0002c0002t0001g0106 a0002c0002t0001g0119 a0002c0002t0001g0128 a0002c0002t0001g0147 a0002c0002t0001g0282 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0304 a0002c0002t0001g0308 a0002c0002t0001g0313 a0005c0005t0001g0215 a0005c0005t0001g0302 a0022c0038t0016g0303	22	350	0.0629	648	c.135 others(665): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAAGATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGA GGTAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGG TGATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGT TGGTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACGGTGGT GGTGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGG TGGTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGA GGATGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAG ATAATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGATGGTGAGGGTGAT GGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATGT GGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(641): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACAACCATCAT CCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCACTA CCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCACCA TCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATCACT ACCATCATCCTCACTACCACCACCACTGTCACCATCAACCACCATCACCA TCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACC ACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATT ACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTTCAT CACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCA CCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCACC ATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCAC CACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0283 a0002c0002t0001g0283	1	350	0.0029	648	c.135 others(665): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAAGATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGA GGTAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGG TGATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGT TGGTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACAGTGGT GGTGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGG TGGTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGA GGATGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAG ATAATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGATGGTGAGGGTGAT GGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATGT GGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(641): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCACCA TCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATCACT ACCATCATCCTCACTACCACCACCACCGTCACCATCAACCACCATCACCA TCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACC ACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATT ACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTTCAT CACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCA CCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCACC ATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCAC CACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0171 a0002c0002t0022g0171	1	350	0.0029	648	c.135 others(665): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAAGATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGA GGTAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGG TGATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGT TGGTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACGGTGGT GGTGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGG TGGTGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGA GGATGAAGATGGTGGTGGTGGTGGTGAGGATTGTGATGGTGAGTGAGATA ATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGAT GGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATGT GGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(641): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACATCATCACCA TCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATCACT ACCATCATCCTCACTACCACCACCACCGTCACCATCAACCACCATCACCA TCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACC ACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATT ACCACAATCCTCACCACTACCACCATCACCACCTTCATCACCATCTTCAT CACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCA CCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCACC ATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCAC CACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03490.hp1 HG03492.hp2 HG01243.hp1 HG03490.hp1 HG03492.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0156 a0004c0006t0001g0157 a0004c0006t0001g0177 a0004c0006t0001g0156 a0004c0006t0001g0157 a0004c0006t0001g0177	3	350	0.0086	648	c.135 others(665): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAAGATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGT GGTAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGG TGATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGT TGGTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACGGTGGT GGTGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGG TGGTGAGGATGGTGATGAAGATGGTGATGATGTCATGATGGTGGTGAGGA TGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGATA ATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGAT GGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATGT GGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(641): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACATCATCACCA TCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATCACT ACCATCATCCTCACTACCACCACCACCGTCACCATCAACCACCATCACCA TCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACC ACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATT ACCACAATCCTCACCACTACCTCCATCACCACCTTCATCACCATCTTCAT CACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCA CCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCACC ATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCAC CACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0007 a0004c0006t0001g0007	2	350	0.0057	648	c.135 others(665): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAAGATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGA GGTAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGG TGATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGT TGGTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACGGTGGT GGTGGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGG TGGTGAGGATGGTGATGAAGATGGTGATGATGTCATGATGGTGGTGAGGA TGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGATA ATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGAT GGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATGT GGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(641): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC ACTACCATCATCCTCACTACCACCACCGTCACCATCAACCACCATCACCA TCACCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACC ACCATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATT ACCACAATCCTCACCACTACCACCATCACCACCTTCATCACCATCTTCAT CACCACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCA CCACCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCACC ATCACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCAC CACCATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02895.hp2 others(1): Show HG02451.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0265 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0265 a0001c0001t0013g0048	4	350	0.0114	648	c.135 others(665): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAAGATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGT GGTAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGG TGATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGT TGGTGATTGTGATTATGGTGATGGTGATGGTGGTTGATGGTGACGGTGGT GGTAGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGGTGG TGAGGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGAGGA TGAAGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGATA ATGGTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGAT GGTAGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATGT GGTGAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(641): Show AGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	334	0.0030	648	c.838 others(663): Show c.838-693_838-692insCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCTCCT GCCTCCTTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(641): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	334	0.0030	648	c.838 others(663): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(641): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	334	0.0030	648	c.838 others(663): Show c.838-869_838-868insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79309293	G G	GTGATCCC others(641): Show GTGATCCCTAGCAGGTAGAAGGTCAGAGGCTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGC AGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTG AGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGTAGAAGGTC AGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGCTGAGGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0243 a0002c0005t0001g0243	1	298	0.0034	648	c.177 others(667): Show c.1773+2066_1773+2067insTAGCAGGTAGAAGGTCAGAGGCTGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAG AAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGG AGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGTTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGC TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCT CCGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGG TCAGGGGCTGAGGACTGATCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309577	A A	AGTAGTGA others(641): Show AGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGT AGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGC TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCCCCAGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATC TCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	298	0.0034	648	c.177 others(667): Show c.1773+2344_1773+2345insTAGTGATCCTCCGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGT AGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGT GGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGC AGGTAGAAGGTCAGGGGTGGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AVEN_chr15_33861227_34044204	33956743	T T	TAGAAAAG others(641): Show TAGAAAAGAGTATGTCGCTCTTTCCCTAAGCAGCCTGAGGTGATCTGTGA AAATGGTTCGCTATTCACTTGACCCGGAGAACCCCACGAAATCATGCAAA TCAAGAGGTTCCAATCTTCGTGTTCACTTTAAGAACACTCGTGAAACTGC TCAGGCCATCAAGGGTATGCATATACGAAAAGCCACGAAGTATCTGAAAG ATGTCACTTTACAGAAACAGTGTGTACCATTCCGACGTTACAATGGTGGA GTTGGCAGGTGTGCGCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTG GCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGA GTAATGCTGAACTTAAGGGTTTAGATGTAGATTCTCTGGTCATTGAGCAT ATCCAAGTGAACAAAGCACCTAAGATGCGCCGCCGGACCTACAGAGCTCA TGGTCGGATTAACCCATACATGAGCTCTCCCTGCCACATTGAGATGATCC TTACGGAAAAGGAACAGATTGTTCCTAAACCAGAAGAGGAGGTTGCCCAG AAGAAAAAGATATCCCAGAAGAAACAAAAACTTATGGCACGGGAGTAAAT TCAGCATTAAAATAAATGTAATTAAAAGGAAAAAAAAAAAAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0022 a0007c0010t0001g0022	1	266	0.0038	648	c.445 others(667): Show c.445+46288_445+46289insTTTCTTTTTTTTTTTTTTTTCCTTTT AATTACATTTATTTTAATGCTGAATTTACTCCCGTGCCATAAGTTTTTGT TTCTTCTGGGATATCTTTTTCTTCTGGGCAACCTCCTCTTCTGGTTTAGG AACAATCTGTTCCTTTTCCGTAAGGATCATCTCAATGTGGCAGGGAGAGC TCATGTATGGGTTAATCCGACCATGAGCTCTGTAGGTCCGGCGGCGCATC TTAGGTGCTTTGTTCACTTGGATATGCTCAATGACCAGAGAATCTACATC TAAACCCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCA AAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGC TTGGCCTGCGCACACCTGCCAACTCCACCATTGTAACGTCGGAATGGTAC ACACTGTTTCTGTAAAGTGACATCTTTCAGATACTTCGTGGCTTTTCGTA TATGCATACCCTTGATGGCCTGAGCAGTTTCACGAGTGTTCTTAAAGTGA ACACGAAGATTGGAACCTCTTGATTTGCATGATTTCGTGGGGTTCTCCGG GTCAAGTGAATAGCGAACCATTTTCACAGATCACCTCAGGCTGCTTAGGG AAAGAGCGACATACTCTTTTCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
BCL11A_chr2_60452194_60558654	60467921	G G	GTGGTGGT others(641): Show GTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAAT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTAGTGGTGA TGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTAGTGGTGATGGT ACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTAGTGGTGATGGTACTG GTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGATGGTGGT GGTGGTAGTGATGGTGGTAGTGATGGTGGTGGTGGTGATGGTACTGGTGG TGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTAGTGATGGTGGTAGTGGTGATGGTACTGGTGGTGAT GGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTAGTGATGGTGGTAGTGGTGATGGTACTGGTGGTGATGGTG GTGGTGGTAGTGATGGTGGTGGTAATGGTGATGGTGGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	262	0.0038	648	c.487 others(663): Show c.487+810_487+811insTCACTACCACCACCACCATCACCATTACCA CCACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACTACC ACCATCACTACCACCACCACCACCATCACCACCACCACCATTACCACCAC CATCACTACCACCACCACCATCACCACCAGTACCATCACCACTACCACCA TCACTACCACCACCACCACCACCACCACCACCACCATTACCACCACCATC ACTACCACCACCACCATCACCACCAGTACCATCACCACCACCACCATCAC TACCACCATCACTACCACCACCACCATCACCATTACCACCACCATCACTA CCACCACCACCATCACCACCAGTACCATCACCACTACCACCATCACTACC ACCACCACCACCATCACCACCACCACCATTACCACCACCATCACTACCAC CACCACCATCACCACCAGTACCATCACCACTACCACCATCACTACCACCA CCACCACCACCACCACCACCACCATTACCACCACCATCACTACCACCACC ACCATCACCACCAGTACCATCACCACTACCACCATCACTACCACCACCAC CACCATCACCACCACCACCATTACCACCACCATCACTACCACCACCACCA TCACTACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(641): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGATGG TGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTG GTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp1 HG02602.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0050 a0001c0001t0003g0051	2	292	0.0069	648	c.21 others(663): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCACCATCACCACCACCACCATCACCATCACCACCACCATCACCACCAT CACCACCATCACCACCATCACCATCACCACCACCACCATCACCACCATCA CTGCCACCATCACCATCACCACCATCACCACCATCACCACCATCATCACC ACCACCACCACCATCACCACCATCATCACCATCACCACCACCACCACCAC CATCACCATCACCACCACCATCACCACCATCACCGTCACCACCATCACCA CCACCACCATCACCACCATCATCACCATCACCACCACCATCACCACCACC ATCACCACCATCATCACTATCACCACCATCACCACCATCATCACCACCAC CACCACCACCATCACCACCACCATCACCACCATCACCATCACCACCATCA TCACCACCACCGTCACCCCCATCATTACCATCACCACCACCACCACCACC ACCATGACCACCACCACCACCACTCTCACCATCATCATCACTGTCACCAC CACCACCACCACCACCACCATCACTACCATCGTCACCATCACCACTACCT CCATCTCCACCACTACCACCCCCACCACCACTCTCACCACCATCACCATC ACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GATGGTGA others(641): Show GATGGTGATGGTGATGATGTGATGGTGATGATGATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGT AATGGTGATGATGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCT GATGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGATATTGATGGTGATG ATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGGTG ATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGAT GATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGATGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGAT GACGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGG AGATGGAGATGTTGGTGATGATGGTGATGGTGGTGATGATGTGTTGGTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0086 a0086	a0086c0073 a0086c0073	a0086c0073t0001 a0086c0073t0001	a0086c0073t0001g0152 a0086c0073t0001g0152	1	346	0.0029	648	c.963 others(665): Show c.963+3412_963+3413insTACCAACACATCATCACCACCATCACCA TCATCACCAACATCTCCATCTCCATCACCACCATCACCATCATCACCATC ACCATCATCACCATCACCGTCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCATCACCATCATCACCATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCACCATCACCATC ATCACCATCACCATCATCACCATCATCACTATCATCACCATCACATCATC ACCATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCAC CATCATAACTATCACCATCATCACCATCATCACCATCACATCATCACCAT CACCATCATCACCATCAATATCATCACCATCAATATCATCACCATCATCA CCATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACC ATCACCATCATCACCATCATCAGCATCACCATCACCACCACATCATCATC ACCATCACCATCATCACCATTACCATCACATCACCATCATCATCACCACC ATCACCATCATCACCATCACCATCATCACCATCACCATCATCATCACCAT CACATCATCACCATCACCAT	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CABLES1_chr18_23130485_23265470	23218258	A A	ACATCCTC others(641): Show ACATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCAT CCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCAC TTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTT GCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGC CCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCC TGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTG CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGT TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0112 a0002c0005t0003g0112	1	278	0.0036	648	c.108 others(667): Show c.1088+4293_1088+4294insGCTCCCGCATCCTCACTTGCCCTGGT TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCAC TTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTCCCGCATCCTCACTT GCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGC CCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCC TGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTG CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

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