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
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1016): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGG CATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTT TCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCAT GGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGG AGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAG AAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGT AGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGC AGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAG CAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATA TATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCG GCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCT CGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA20805.hp1 NA19060.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0245 a0002c0003t0001g0243 a0001c0001t0001g0245 a0002c0003t0001g0243	2	9	0.2222	1023	c.285 others(1042): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAA AAATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCG ACAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATG AGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTT TTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAA TAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTA ACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTA AAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGT GACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGC CTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACT CCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGG CCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(1016): Show TGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGC GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCA GGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGT CAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0004 a0003c0020t0004	a0003c0020t0004g0286 a0003c0020t0004g0286	1	251	0.0040	1023	c.955 others(1040): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGGTGGGAAC TGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCAGGGTCAGAGCAG AGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGA GGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(1016): Show TGCAGCCTCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGG CCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCCGCAGCCCCGT CCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCCGTCCGGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG GCCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	1023	c.36 others(1034): Show c.3604_*3605insGCAGCCTCCACCCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGC AGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCC GCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCA CCCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGC CCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCGGCCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC CACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(1016): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAG GCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACAC TGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGG CTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACT GCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGC TGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTG CACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCT GTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0042 a0042	a0042c0084 a0042c0084	a0042c0084t0002 a0042c0084t0002	a0042c0084t0002g0053 a0042c0084t0002g0053	1	121	0.0083	1023	c.212 others(1040): Show c.2121-870_2121-869insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGG ACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGG GGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGA CACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914424	C C	CCCCGAGG others(1016): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAG GCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACAC TGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGG CTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACT GCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGC TGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTG CACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCT GTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0048 a0048	a0048c0069 a0048c0069	a0048c0069t0002 a0048c0069t0002	a0048c0069t0002g0015 a0048c0069t0002g0015	1	141	0.0071	1023	c.212 others(1042): Show c.2121-1167_2121-1166insCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGGCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914748	A A	ACCCCGGC others(1016): Show ACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCC GGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCC AGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCG GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCGCCCCGGCCC GAGGCTGTGTCCAGCCACACTGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0055 a0055	a0055c0075 a0055c0075	a0055c0075t0001 a0055c0075t0001	a0055c0075t0001g0235 a0055c0075t0001g0235	1	242	0.0041	1023	c.212 others(1042): Show c.2121-1491_2121-1490insCGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGCGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGG ACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGG GGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGA CACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGG GTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGAC ACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG TGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACA CAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGT GCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACAC AGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTG CAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACA GCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(1016): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGTAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATATTATATATTACATATGTAATATATATTACATATGTAATATATATTAT ATATGTAATATATATTACATATATTACATATGTAATATATAATATATATT ATATATGTAATATATATTACATATGTAATATATATTATATATGTAATATA TAATATATATTATATATGTAATATATATTATATATGTAATATATATTATA TATGTAATATATAATATATATTATATATGTAATATATAATATATATTATA TATGTATATATATTATATATGTAATATATAATATATATATATATGTATAT ATTATATATGTAATATATTACATAATAATATATATTACATATATAATATA TATTATATATGTAATATATATTATATATGTAATATATAATATATATTATA TATGTAATATATATTATATATATAATATATATTATATATGTAATATATAT TATATATGTAATATATGTAATATATATTATATATGTAATATATGTAATAT ATATTATATATGTAATATATGTAATATATATTATATATGTAATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	174	0.0057	1023	c.342 others(1044): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGTAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATTACATATGTAATATATATTATATATGTAATATATATTACATATATTAC ATATGTAATATATAATATATATTATATATGTAATATATATTACATATGTA ATATATATTATATATGTAATATATAATATATATTATATATGTAATATATA TTATATATGTAATATATATTATATATGTAATATATAATATATATTATATA TGTAATATATAATATATATTATATATGTATATATATTATATATGTAATAT ATAATATATATATATATGTATATATTATATATGTAATATATTACATAATA ATATATATTACATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATAATATATATTATATATGTAATATATATTATATATATAATA TATATTATATATGTAATATATATTATATATGTAATATATGTAATATATAT TATATATGTAATATATGTAATATATATTATATATGTAATATATGTAATAT ATATTATATATGTAATATATGTAATATATATTATATATGTAATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178585737	C C	CCTGGATG others(1016): Show CCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTG GGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCC TGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAAT GCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGG CGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTAC AGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGG GTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTG GATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGC CCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCG CTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAG CCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGT AATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGA TGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCC TACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0139	1	227	0.0044	1023	c.294 others(1040): Show c.294+4166_294+4167insTGCTGTAGGGCATTACCCCAGCGCCATC CAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCT GTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCG CCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGC ATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCA GGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCC CAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT AGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCC ATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCAT TACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGG GCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCA GCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAG GGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCAT CCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTA CCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGC TGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CRTC3_chr15_90524923_90650345	90647413	A A	AATCCTCC others(1016): Show AATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCCACAATCCTCCTCTTACTCCACACCCCTCCTCCAACCCCTCCTCCACA GACCTCCCTCTCGTCCACACCCCTCCAATTCCACAGCCCTCCTCCACCTC CACACACCCAATCCTCCTCCAGTCCTCCTCCTCCACACACCTTCTCCTCC ACACCTCACCTCCTCCTGCACACCCCTACCCCACCGCACCCCTCCCCCTC CTCCTCCACACTCACTCAACACCCCTCCTCCTCCTCATCCCTCCCCTTTC ACACCCCTCCTCAACTTCCACACCCCTCCCCCTTCTCACCCCTCCCACTT CAACTCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCA CCCATCATCCTCCACGCCCCTTCTCCTCCTCACTCCTCCTCCTCCTCCAC ACCCCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCTTCTCCTCCTCAC CCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCC CTTCTCCTCCTCCACACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCT CCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTC CACACCCCTCCTGCTCCACATCCCTCCCCCTCCACCCCCTCCACACCCCT CCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTC CTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCA CCCCCTCCACACCCCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTC CAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCA CATCCCTCCCCCTCCACCCCCTCCACACCCCTCCTCCTCCACACTCCTCC TCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCA CACCCCTCCTGCTCCACATCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0130 a0002c0002t0007g0130	1	229	0.0044	1023	c.52 others(1034): Show c.5273_*5274insATCCTCCTCCACACCCCTCCTCCTCAATCCTCCT CCACACCCCTCCTCCTCCACAATCCTCCTCTTACTCCACACCCCTCCTCC AACCCCTCCTCCACAGACCTCCCTCTCGTCCACACCCCTCCAATTCCACA GCCCTCCTCCACCTCCACACACCCAATCCTCCTCCAGTCCTCCTCCTCCA CACACCTTCTCCTCCACACCTCACCTCCTCCTGCACACCCCTACCCCACC GCACCCCTCCCCCTCCTCCTCCACACTCACTCAACACCCCTCCTCCTCCT CATCCCTCCCCTTTCACACCCCTCCTCAACTTCCACACCCCTCCCCCTTC TCACCCCTCCCACTTCAACTCTCCTCCTCACCCCTCCTCCTCTGCCACAC CCCTACTCCTCCTCACCCATCATCCTCCACGCCCCTTCTCCTCCTCACTC CTCCTCCTCCTCCACACCCCTCCTCCTCACTCCTCCTCCTCCTCCACACC CCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCAC CTCTTCTCTTCACCCCTTCTCCTCCTCCACACCCCTCCTTCTCAACTCTC CTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCC TCTTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCAC CCCCTCCACACCCCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCC AAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCAC ATCCCTCCCCCTCCACCCCCTCCACACCCCTCCTCCTCCACACTCCTCCT CACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCAC ACCCCTCCTGCTCCACATCCCTCCCCCTCCACCCCCTCCACACCCCTCCT CCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTC TTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2069		chr15	TogoVar
DLEC1_chr3_38034208_38129025	38084579	G G	GGGGGGTG others(1016): Show GGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTG GTGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTAGT AGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAG TGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGT GGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGG TGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTAGTA GTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTGGTGGT GGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGG TGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTG GTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGT GGTAGTAGTAGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGG TGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTA GTAGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTGGTTGTGGTAGTAGT GGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAG TAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGTAGTG GTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGT AGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTAGTAG TGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTA GTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGTAGT GGTGGTGGTAGTAGTAGTAGTGGT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0069 a0002c0024t0001g0069	1	2	0.5000	1023	c.126 others(1040): Show c.1261+352_1261+353insGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGT AGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAG TAGTGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTA GTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGT GGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAG TGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTA GTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTGGT GGTGGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGTGG TGGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTA GTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGT AGTGGTAGTAGTAGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAG TGGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTG GTAGTAGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTGGTTGTGGTAGT AGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAG TAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGTA GTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGT AGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTAG TAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTA GTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGT AGTGGTGGTGGTAGTAGTAGTAGTGGTGGGGGTGGTAGTAGTAGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400821	C C	CCACCACC others(1016): Show CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCACCACCACCACCACCACCTCCACCACCT CCACCACCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCACCACCACCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCAC CACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCA CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCC ACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCACCTCC ACCACCTCCACCATCACCACCACCACCTTCTCCACCACCACCACCACCAG CACTTCCACCATCACCACCTCCTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0008 a0008	a0008c0120 a0008c0120	a0008c0120t0002 a0008c0120t0002	a0008c0120t0002g0225 a0008c0120t0002g0225	1	231	0.0043	1023	c.323 others(1042): Show c.3234+1567_3234+1568insCCACCACCTCCACCACCACCACCACC TCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCACCACCACCTCCACCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCACCA CCACCACCTCCACCACCTCCACCACCACCACCACCACCACCTCCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCACC ACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCTCCACCACCACCACCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCC TTCACCATCACCACCTCCACCACCTCCACCATCACCACCACCACCTTCTC CACCACCACCACCACCAGCACTTCCACCATCACCACCTCCTTCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400977	T T	TCACCATC others(1016): Show TCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCATC ACCACCACCTCCACCACCACCACCTCCTCCACCATCACCATCACCACCAC CTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCA CAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCATC ACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCCCAC TACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCA CCACCACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCAGCATCTTCACCATCACCACCACCACCTCCACCATCACCACCACCT CCACCATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTC CACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA GCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATC ACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCATCA CCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCCACC ACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACATC CACCACCACCATCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0011 a0011	a0011c0165 a0011c0165	a0011c0165t0005 a0011c0165t0005	a0011c0165t0005g0017 a0011c0165t0005g0017	1	220	0.0045	1023	c.323 others(1042): Show c.3234+1723_3234+1724insTCACCACCACCTCCACCATCACCACC TCCTCCACCATCACCATCACCACCACCTCCACCACCACCACCTCCTCCAC CATCACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACA GCTCCTTCACCATCACCACAACATCCACCACCACCATCACCACCACCACC ACCACCTCCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCCAC CACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACAT CCACCACCACCATCACCACCACCACCACCACCTCCTCCACCATCACCACC TCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCATCACCAGCATCTTCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCA CCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACC ATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTT CACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EGFR_chr7_55014017_55216628	55167217	C C	CGGTGGTG others(1016): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGA TGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTAC TGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGG AGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGG AGTCACAATGGTGGTGGTGTTGAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0004 a0002c0027t0004	a0002c0027t0004g0148 a0002c0027t0004g0148	1	103	0.0097	1023	c.188 others(1042): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAGGTGGGAGTC ACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAGGTGGGAGTC ACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTG GTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTG GTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTG ATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTG ATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99927963	G G	GTGGTGGT others(1016): Show GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTATT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTATTGGTGGTGGTGATGGTG GTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGGGGTGGGGGTGGG GGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGTTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGAGGTGGTGATGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0267 a0001c0003t0001g0267	1	249	0.0040	1023	c.190 others(1042): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTATTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTATTG GTGGTGGTGATGGTGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGT GGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGTTGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGATGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(1016): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCTAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTC TGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACC ACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGAC CTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCC AGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	130	0.0077	1023	c.240 others(1042): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTG GGCTGTGGTTGGGTGGAGGTCCTCAGAGCTAGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTG GTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAG AGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTAGGCTGTGGTTGGGT GGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGG CTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTC CTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GADD45A_chr1_67680201_67693334	67680757	A A	AAGCATGA others(1016): Show AAGCATGAGCTGTTAAGAAGTTAGGAAGAAGAAAACTTTGCAATGAAGTT GATGGGTGAATAGAATTGTTTCTTTTATTTCAGAGAGAGAAAACTCACAA ATTGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGC CAAGGTGGGAGGACTGCTTAAGCCCAGGCGTTTGAGACCAGCCTGGGCAA CAAAGCAAGACCCCGTTTCTTTGGAAAATTTTAAAATTAGGCTGGTGTGA TGGCATGTGCCTATAGTCCCAGGTACTCAGGAGGCTGAGGTAGGAAGATC GCTTGAGCCTGGGAGTTCAAGACTGCAGTGAGCTATGACAGTGCCACTGC ACTCTAGTCTGGATGACAGAGGATGACCCTGTCTCAAAAAAGAAAAAAAA AAAAGCAAACTCACAAATCTGTTCAAGGTGCAAAAACAACCTACCAGTGG CCAATCACCAACTCAGACCACCTACTTCCCTCACCAGTGATTAGGCTACA AAGCAGAGACTCTCAGAACATTCCTCCCATGATAGAAGCCTTCTGATACG CACCGACAGAGAGGTGAGGGGTTAGGGGGTGTTGATCTTGAAGAATGTTC TAGTTAGTCTCTTCATCTGACTTCTCCACTGGCTGGGCCTTGCTTGGCTG GTGAAATGTGAGCAGCTGGTGGCAGCACAAGGTGGCCAGCCCAAAGCTCA AATCAACACTATGATTACTACCATGATTCTTAATAGCTGAAGAGAATTTC CACAGGATAAGGATTTATTGAACACACAAAAAAGATGGCATTAAGAATAT TATACTAGTTTTTTGTTGTTGTTTTTGTTTTTGTTTTGAGACGGAGTTTC AATCTTGTCACCCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCA ACCTCCACCTCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAG CTAAGATTACAGGTGCCTGCCACCGCGCCTGGCTAATTTTTGTATTTTTA GTAGAGCTGGGGTTTCACCATGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	1023	c.-47 others(1034): Show c.-4738_-4737insAGCATGAGCTGTTAAGAAGTTAGGAAGAAGAAAA CTTTGCAATGAAGTTGATGGGTGAATAGAATTGTTTCTTTTATTTCAGAG AGAGAAAACTCACAAATTGGCTGGGCGCAGTGGCTCACACCTGTAATCCC AGCACTTTGCGAGGCCAAGGTGGGAGGACTGCTTAAGCCCAGGCGTTTGA GACCAGCCTGGGCAACAAAGCAAGACCCCGTTTCTTTGGAAAATTTTAAA ATTAGGCTGGTGTGATGGCATGTGCCTATAGTCCCAGGTACTCAGGAGGC TGAGGTAGGAAGATCGCTTGAGCCTGGGAGTTCAAGACTGCAGTGAGCTA TGACAGTGCCACTGCACTCTAGTCTGGATGACAGAGGATGACCCTGTCTC AAAAAAGAAAAAAAAAAAAGCAAACTCACAAATCTGTTCAAGGTGCAAAA ACAACCTACCAGTGGCCAATCACCAACTCAGACCACCTACTTCCCTCACC AGTGATTAGGCTACAAAGCAGAGACTCTCAGAACATTCCTCCCATGATAG AAGCCTTCTGATACGCACCGACAGAGAGGTGAGGGGTTAGGGGGTGTTGA TCTTGAAGAATGTTCTAGTTAGTCTCTTCATCTGACTTCTCCACTGGCTG GGCCTTGCTTGGCTGGTGAAATGTGAGCAGCTGGTGGCAGCACAAGGTGG CCAGCCCAAAGCTCAAATCAACACTATGATTACTACCATGATTCTTAATA GCTGAAGAGAATTTCCACAGGATAAGGATTTATTGAACACACAAAAAAGA TGGCATTAAGAATATTATACTAGTTTTTTGTTGTTGTTTTTGTTTTTGTT TTGAGACGGAGTTTCAATCTTGTCACCCAGGCTGGAGTGCAATGGCACCA TCTCGGCTCACTGCAACCTCCACCTCCAGATTCAAGTGATTCTCCTGCCT CAGCCTCCCGAGTAGCTAAGATTACAGGTGCCTGCCACCGCGCCTGGCTA ATTTTTGTATTTTTAGTAGAGCTGGGGTTTCACCATGTT	GADD45A	ENSG00000116717.13	transcript	ENST00000370986.9	protein_coding		4443		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241807023	A A	ACCCTCCC others(1016): Show ACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC TCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCT CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGAGACCTCCGCA GGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACTCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCTGCAG GCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCT CTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAAC CCAGGGACCTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	221	0.0045	1023	c.28 others(1034): Show c.2857_*2858insCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGAGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTC TGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCC TCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCT CCCTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2737		chr2	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1016): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATACATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATATTATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATACAATGTATATTATATATAAT ATACATTGTATATAATGTATATTACATATAATATACATTATATAATGTAT ATTACATATAATATACATTGTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTATATATAATGTGTATAT TACATGTAATATACATTATATATAATGTATATTATATGTAATATATACAT TATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATAT ATTATATGTAATATATACATTATATATAATGTATATATTACATGTAATAT ATACATTATATATAATGTATATTACATGTAATATATACATTATATATAAT GTATATTACATGTAATATATACATTATATATAATGTATATTATATGTAAT ATATACATTATATATAATGTATATTATATGTAATATACATTATATAATGT ATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	132	0.0076	1023	c.94- others(1036): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATACATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATACAA TGTATATTATATATAATATACATTGTATATAATGTATATTACATATAATA TACATTATATAATGTATATTACATATAATATACATTGTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT ATATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATT ATATGTAATATATACATTATATAATGTGTATATTATATGTAATATATACA TTATATATAATGTATATATTATATGTAATATATACATTATATATAATGTA TATATTACATGTAATATATACATTATATATAATGTATATTACATGTAATA TATACATTATATATAATGTATATTACATGTAATATATACATTATATATAA TGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTAA TATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1016): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATATATTATATATAATATATATTATATATAA TATATATATTATATAAAATATATAATATATATCTTATATATATCATATAT TTTATATATATCATATATTTTATATATATCATATATTTTATATATAATAT ATATTATATATACATTATATAATATATATTATATTATATATAATATATTA TATAATATATATTATATATTATACGTAATATATAATGTATATTATATATA ATATACATTATATAATGTATATTATATATAATATACATTATATACAATGT ATATTATATATAATATACATTGTATATAATGTATATTACATATAATATAC ATTGTATATAATGTATATTACATATAATATACATTATATAATGTATATTA CATATAATATACATTGTATATAATGTATATTACATATAATATACATTGTA TATAATGTATATTACATATAATATACATTATATATAATGTGTATATTACA TGTAATATACATTATATATAATGTATATTATATGTAATATATACATTATA TAATGTGTATATTATATGTAATATATACATTATATATAATGTATATATTA TATGTAATATATACATTATATATAATGTATATATTATATGTAATATATAC ATTATATATAATGTATATATTACATGTAATATATACATTATATATAATGT ATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATAATGT ATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	132	0.0076	1023	c.94- others(1036): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATATATTATATATA ATATATATTATATATAATATATATATTATATAAAATATATAATATATATC TTATATATATCATATATTTTATATATATCATATATTTTATATATATCATA TATTTTATATATAATATATATTATATATACATTATATAATATATATTATA TTATATATAATATATTATATAATATATATTATATATTATACGTAATATAT AATGTATATTATATATAATATACATTATATAATGTATATTATATATAATA TACATTATATACAATGTATATTATATATAATATACATTGTATATAATGTA TATTACATATAATATACATTGTATATAATGTATATTACATATAATATACA TTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATTACATATAATATACATTATAT ATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATAT GTAATATATACATTATATAATGTGTATATTATATGTAATATATACATTAT ATATAATGTATATATTATATGTAATATATACATTATATATAATGTATATA TTATATGTAATATATACATTATATATAATGTATATATTACATGTAATATA TACATTATATATAATGTATATTATATGTAATATATACATTATATATAATG TATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATA TATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1016): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATACAATGTATATTACATATAAT ATACATTGTATATAATGTATATTACATATAATATACATTGTATAATGTAT ATTACATATAATATACATTGTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTATATATAATGTGTATAT TACATGTAATATACATTATATATAATGTATATTATATGTAATATATACAT TATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATAT ATTATATGTAATATATACATTATATATAATGTATATATTACATGTAATAT ATACATTATATATAATGTATATTACATGTAATATATACATTATATATAAT GTATATTACATGTAATATATACATTATATATAATGTATATTATATGTAAT ATATACATTATATATAATGTATATTATATGTAATATACATTATATAATGT ATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	132	0.0076	1023	c.94- others(1036): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATACAA TGTATATTACATATAATATACATTGTATATAATGTATATTACATATAATA TACATTGTATAATGTATATTACATATAATATACATTGTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT ATATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATT ATATGTAATATATACATTATATAATGTGTATATTATATGTAATATATACA TTATATATAATGTATATATTATATGTAATATATACATTATATATAATGTA TATATTACATGTAATATATACATTATATATAATGTATATTACATGTAATA TATACATTATATATAATGTATATTACATGTAATATATACATTATATATAA TGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTAA TATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1016): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATACAATGTATATTATATATAAT ATACATTGTATATAATGTATATTACATATAATATACATTATATAATGTAT ATTACATATAATATACATTGTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTATATATAATGTGTATAT TACATGTAATATACATTATATATAATGTATATTATATGTAATATATACAT TATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATAT ATTACATGTAATATATACATTATATATAATGTATATATTACATGTAATAT ATACATTATATATAATGTATATTACATGTAATATATACATTATATATAAT GTATATTACATGTAATATATACATTATATATAATGTATATTATATGTAAT ATATACATTATATATAATGTATATTATATGTAATATACATTATATAATGT ATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00544.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0203 a0001c0001t0001g0078 a0001c0001t0001g0203	2	133	0.0150	1023	c.94- others(1036): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATACAA TGTATATTATATATAATATACATTGTATATAATGTATATTACATATAATA TACATTATATAATGTATATTACATATAATATACATTGTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT ATATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATT ATATGTAATATATACATTATATAATGTGTATATTATATGTAATATATACA TTATATATAATGTATATATTACATGTAATATATACATTATATATAATGTA TATATTACATGTAATATATACATTATATATAATGTATATTACATGTAATA TATACATTATATATAATGTATATTACATGTAATATATACATTATATATAA TGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTAA TATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1016): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATACAATGTATATTATATATAAT ATACATTGTATATAATGTATATTACATATAATATACATTGTATAATGTAT ATTACATATAATATACATTGTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTATATATAATGTGTATAT TACATGTAATATACATTATATATAATGTATATTATATGTAATATATACAT TATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATAT ATTATATGTAATATATACATTATATATAATGTATATATTACATGTAATAT ATACATTATATATAATGTATATTACATGTAATATATACATTATATATAAT GTATATTACATGTAATATATACATTATATATAATGTATATTATATGTAAT ATATACATTATATATAATGTATATTATATGTAATATACATTATATAATGT ATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00323.hp1 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0207 a0001c0001t0001g0208	2	133	0.0150	1023	c.94- others(1036): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATACAA TGTATATTATATATAATATACATTGTATATAATGTATATTACATATAATA TACATTGTATAATGTATATTACATATAATATACATTGTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT ATATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATT ATATGTAATATATACATTATATAATGTGTATATTATATGTAATATATACA TTATATATAATGTATATATTATATGTAATATATACATTATATATAATGTA TATATTACATGTAATATATACATTATATATAATGTATATTACATGTAATA TATACATTATATATAATGTATATTACATGTAATATATACATTATATATAA TGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTAA TATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1016): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATACAATGTATATTATATATAAT ATACATTGTATATAATGTATATTACATATAATATACATTGTATATAATGT ATATTACATATAATATACATTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTA CATATAATATACATTATATATAATGTGTATATTACATGTAATATACATTA TATATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTA TATGTAATATATACATTATATATAATGTATATATTATATGTAATATATAC ATTATATATAATGTATATATTACATGTAATATATACATTATATATAATGT ATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATAATGT ATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	132	0.0076	1023	c.94- others(1036): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATACAA TGTATATTATATATAATATACATTGTATATAATGTATATTACATATAATA TACATTGTATATAATGTATATTACATATAATATACATTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT GTATATAATGTATATTACATATAATATACATTATATATAATGTGTATATT ACATGTAATATACATTATATATAATGTATATTATATGTAATATATACATT ATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATATA TTATATGTAATATATACATTATATATAATGTATATATTACATGTAATATA TACATTATATATAATGTATATTATATGTAATATATACATTATATATAATG TATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATA TATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1016): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATATTATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATTATATATAATATATATTATATATAATATATATATTATATAT AAAATATATAATATATATCTTATATATATCATATATTTTATATATATCAT ATATTTTATATATATCATATATTTTATATATAATATATATTATATATACA TTATATAATATATATTATATTATATATAATATATTATATAATATATATTA TATATTATACGTAATATATAATGTATATTATATATAATATACATTATATA ATGTATATTATATATAATATACATTATATACAATGTATATTATATATAAT ATACATTGTATATAATGTATATTACATATAATATACATTGTATATAATGT ATATTACATATAATATACATTATATAATGTATATTACATATAATATACAT TGTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTA CATATAATATACATTATATATAATGTGTATATTACATGTAATATACATTA TATATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTA TATGTAATATATACATTATATATAATGTATATATTATATGTAATATATAC ATTATATATAATGTATATATTACATGTAATATATACATTATATATAATGT ATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATAATGT ATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	132	0.0076	1023	c.94- others(1036): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATATTATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATTATATATAATATATATTATATATA ATATATATATTATATATAAAATATATAATATATATCTTATATATATCATA TATTTTATATATATCATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATTATATTATATATAATATA TTATATAATATATATTATATATTATACGTAATATATAATGTATATTATAT ATAATATACATTATATAATGTATATTATATATAATATACATTATATACAA TGTATATTATATATAATATACATTGTATATAATGTATATTACATATAATA TACATTGTATATAATGTATATTACATATAATATACATTATATAATGTATA TTACATATAATATACATTGTATATAATGTATATTACATATAATATACATT GTATATAATGTATATTACATATAATATACATTATATATAATGTGTATATT ACATGTAATATACATTATATATAATGTATATTATATGTAATATATACATT ATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATATA TTATATGTAATATATACATTATATATAATGTATATATTACATGTAATATA TACATTATATATAATGTATATTATATGTAATATATACATTATATATAATG TATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATA TATACATTATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HPCAL1_chr2_10297904_10432604	10399307	C C	CCACCATC others(1016): Show CCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACCATC ACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCATCACCATCACCGCCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCATCATCACCATCATCA CCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCATCACCACCATCACCGCCA CCACCACCATCACCACCACCACCATCACCATCATCACCATCATCACCACC ACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCATCACCACCATCACCGCCACCACC ACCATCACCACCACCACCATCACCATCATCACCATCATCACCACCACCAC CACCACCATCACCATCATCACCACCACCACCACCACCGCCGCCACCACCA CCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCACC ACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCGCCAC CACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCGCCACCACCATCACCATCATCACC ACCACCACCACCATCACCACCACCACCACCGCCACCGCCACCACCACCAC CATCACCGCCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0026	1	285	0.0035	1023	c.-25 others(1040): Show c.-25+2392_-25+2393insTCACCACCATCACCACCACCACCATCAC CACCATCACCACCATCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCACCAT CACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCATCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ATCATCACCATCATCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATC ACCACCATCACCGCCACCACCACCATCACCACCACCACCATCACCATCAT CACCATCATCACCACCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCACCAC CATCACCGCCACCACCACCATCACCACCACCACCATCACCATCATCACCA TCATCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACC ACCGCCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCGCCACCAC CATCACCATCATCACCACCACCACCACCATCACCACCACCACCACCGCCA CCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399418	C C	CCACCACC others(1016): Show CCACCACCACCACCACCACCGCCACCATCACCACCACCACCACCATCACC ACCGCCACCATCACCACCACCACCACCATCACCACCACCATCACCACCAT CACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCA CCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCACCATCACCACCGCCACCATCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCA CCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACC ACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCAT CACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCGCCA CCACCACCACCACCATCACCACCACAACCACCACCACCACCACCATCACC ACCACTACCACCACCACCACCACCATCACCACCACTACCACCACCACCAC CACCATCACCACCACCACTACCATCATCACCACCACCACCACCACCACCA CCATCACCATCACCACCACCACCATCACCATCACCACCACCACCACCATC ACCACCACAACCACCACCACCACCACCATCACCACCACCACTACCATCAT CACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	267	0.0037	1023	c.-25 others(1040): Show c.-25+2503_-25+2504insCCACCACCACCACCGCCACCATCACCAC CACCACCACCATCACCACCGCCACCATCACCACCACCACCACCATCACCA CCACCATCACCACCATCACCATCATCACCGCCACCACCACCACCACCACC GCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCAC CGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCACC ACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCACCATCACCACCGCCACCA TCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCG CCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCAC CACCACCACCATCACCACCACTACCACCACCACCACCACCATCACCACCA CTACCACCACCACCACCACCATCACCACCACCACTACCATCATCACCACC ACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCATCAC CACCACCACCACCATCACCACCACAACCACCACCACCACCACCATCACCA CCACCACTACCATCATCACCACCACCACCACCACCACCATCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HTRA3_chr4_8264754_8312098	8294663	T T	TCCACTTA others(1016): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCA CACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCA CCCATCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	353	0.0028	1023	c.105 others(1040): Show c.1051+465_1051+466insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCATTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294663	T T	TCCACTTA others(1016): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCA CACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCA CCCATCTTTCCACCTACCCTTTTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01515.hp2 HG01516.hp1 others(6): Show HG00642.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02293.hp2 HG02922.hp2 HG03017.hp1 NA18943.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0063 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0112 a0001c0001t0001g0115 a0002c0002t0001g0127	9	361	0.0249	1023	c.105 others(1040): Show c.1051+465_1051+466insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294666	A A	ACTTATCC others(1016): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCC ACACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCC ACCCATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	283	0.0035	1023	c.105 others(1040): Show c.1051+465_1051+466insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACC CACCCACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1016): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCA CACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCA CCCATCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	63	0.0159	1023	c.105 others(1040): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCATTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1016): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCATCCA CTTATCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATT CACTCATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCA CCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACC ATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCAT CCATCTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATAC ATCCGCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACAC CCATCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCC ATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCAC TCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCA CACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCA CCCATCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	63	0.0159	1023	c.105 others(1040): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCA TCCATTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACC CAGCCACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCAC TCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTAT CCATTCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCATTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1016): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCA CACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCA CCCATCTTTCCACCTACCCTTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp1 HG01358.hp2 others(17): Show HG00639.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp2 HG01943.hp2 HG02040.hp1 HG02280.hp2 HG02615.hp2 HG02738.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0263 a0001c0001t0001g0294 a0001c0001t0001g0354 a0001c0011t0001g0050	20	82	0.2439	1023	c.105 others(1040): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1016): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCA CACCTTTCTACCCATCTACCCATCCACCTACCCACCCATCTTTCCATCCA CCCATCTTTCCACCTACCCTTTTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	63	0.0159	1023	c.105 others(1040): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCTACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(1016): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCATCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCAT CCATCTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATAC ATCCGCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACAC CCATCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCC ATCCATCCATCCATCCACCCATCCATCCAATCATCCATTCATCCATCCAC TCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCA CACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCA CCCATCTTTCCACCTACCCATTTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	63	0.0159	1023	c.105 others(1040): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCATCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCAC TCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTAT CCATTCACCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATC ATCCATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCATTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294671	T T	TCCACTTA others(1016): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCAC CCACCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATC CACCTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCA TCCATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCC ATCCACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTT CCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTA TCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACT CATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCA CCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCC ATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCAT CTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCC GCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCAT CCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCC ATCCATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCA CACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCA CCCATCTTTCCACCTACCCTTTTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	378	0.0026	1023	c.105 others(1040): Show c.1051+473_1051+474insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACCCACC CACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8294674	A A	ACTTATCC others(1016): Show ACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATCCAT TCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCACCT ATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACCCAT CCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCATCC ATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCA CCCCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCAC CTATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCC ATTCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATC CACCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCA CCCACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCC ACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCAT TCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCC ACCCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATC CATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTA TCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCC CACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCA TCCACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATC CATCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCC ACACCTTTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCC ACCCATCTTTCCACCTACCCTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	386	0.0026	1023	c.105 others(1040): Show c.1051+473_1051+474insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATTT ACCATCCATCCATCCATCCACCTATCCACCCACCCATCCATCCATCCATC CACCCATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCATCCATCTAC CCACCCCCACCCATCTTTCCACCCACCCATATACCATCCATCCATCCATC CATCCATCCATCCACTTATCCACCCATCCACCCACCCATCTATCCATCCA TTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGCCCACCCAGC CACCCATCCATCCACCCACCCACCCATCCACCCACACACCCATCCATCCA CCCACCCATTTACCATCCATCCATCCATCCATCCATCCACTTATCCACCC ATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCATTCACTCAT TCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATCCACCCACCC ATCCACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCAT TCACCCACCCACCCATCCATCCATCCACCCACCCATCCATCCAATCATCC ATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCATCCATCCACCCACACCTTTCTACCCATCTACCCATCCACC CACCCACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8			chr4	TogoVar
ICA1_chr7_8108184_8267167	8152576	C C	CATCTCCT others(1016): Show CATCTCCTCCACCACCACTACCACCACCACCATTATCTCCTTCATCACCA CTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCC TCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCC CAGCACTACCATCATCACCTCTTCCACCACTACCACCATCTCCTCCACCA CCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACC ACTACCACCATCACCATCACCTCCACCACCACCACCACCACCACCACCAC CATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCA CCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCC ACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAC CACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCA TCTCCTCCACCACCACCACCACCACCACAATTATCTCCTTCATCACCACT ACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCAC AACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCA TCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACT ATCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACCAC CACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACTACCACCA TCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCACT ACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTC CACCACCACTACCACCACCACCACAATTATCTCCTTCATCACCACTACCC CCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACC ACCACTACCACCACCACCACAATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0084 a0001c0005t0002g0084	1	272	0.0037	1023	c.804 others(1040): Show c.804+4539_804+4540insAATTGTGGTGGTGGTGGTAGTGGTGGTG GAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGT AGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTAGTGGTGGTGGAGG AGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTG GTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGG TGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGATAGTG GTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGT GATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGG TGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTG GTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGTGGTGGAGGAGATGGT GGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGA AGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGG GTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGA GGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTG GGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGATGGTAGTGCTGGGGG TAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAG ATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGT GATGAAGGAGATAATGGTGGTGGTGGTAGTGGTGGTGGAGGAGAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(1016): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	13	0.0769	1023	c.978 others(1040): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAAC GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
LDLRAD3_chr11_35939062_36237136	36055108	A A	AGAGGGAT others(1016): Show AGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATGGGTGG ATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGTTGGATGAAT GGATGGATGGGTGCATGGATGGATGGATGGATGCATGGATGGATGGACGA TGGATACATGGATGCATGGATGGATGGATGCATGGATGGATGGATGATGG ATACATGGATGCATGGATGGATGGTTGGATGGATGGATGCATGGATGCAT GGATGGATGGATGCATGGGTGGATGGATGCATGGATGGGTGCATGGATGG ATGGATGGATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATGG ATGAATGGATGGATGGATGGATGGATGGATAGATGGATGAATGGATGAAT GGATGAATGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGG GTCAGTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAAT GGGTAGATTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAA CCACATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAG ATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTT GTAAACAAGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAAT CAGATGCTTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGT TATCCCCACACCAAACAACATTAGCTCCTGCTACATGGGAGATGCTTAGT ACACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTAGTAC TTGTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTACTGCT GTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCTGAGC AAGAATAAGATTGCTTCCATCTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0201 a0001c0001t0005g0201	1	217	0.0046	1023	c.193 others(1042): Show c.193+18859_193+18860insGAGGGATAGTTGGATGAATGGATGGA TGGATAGATGGATGGATGGGTGGATGAATGGATGGATGGATGCATGGATG GATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGGATGGATGGA TGGATGCATGGATGGATGGACGATGGATACATGGATGCATGGATGGATGG ATGCATGGATGGATGGATGATGGATACATGGATGCATGGATGGATGGTTG GATGGATGGATGCATGGATGCATGGATGGATGGATGCATGGGTGGATGGA TGCATGGATGGGTGCATGGATGGATGGATGGATGGATGGATAAATGGATG CATGGATGCATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGA TGGATAGATGCATGGATGGATGGATGAATGGATGGATGGATGGATGGATG GATAGATGGATGAATGGATGAATGGATGAATGGATGGATGAGTAGGTGGA AGGGTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTG GTTGAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAA GACAGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCT CCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCA TTGCCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTT ATAGTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAG GTCTGATACACCTTGTTCACTGTTATCCCCACACCAAACAACATTAGCTC CTGCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAATCAATGAAA GAACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTGCTTGCATT CTTACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCTCTTACCAG GAGGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
NEU4_chr2_241804193_241822413	241807023	A A	ACCCTCCC others(1016): Show ACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC TCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCT CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGAGACCTCCGCA GGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACTCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCTGCAG GCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCT CTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAAC CCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	221	0.0045	1023	c.-22 others(1034): Show c.-2255_-2254insCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGAGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTC TGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCC TCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCT CCCTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2169		chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(1016): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGG TGGGCAGGGACAGTGGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCA GGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACA GTGAGGGGGATGGGCAGGGACAGTGGGGGGGTGGGCAGGGACAGTGGGGG GCGATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGAT GGGCAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGG ACAGTGGGGCGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGG GGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGA CAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGA GGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGA TGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCA GGGACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACA GTGTTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATG GGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGG GACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGT GCGGGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0009 a0001c0036t0009	a0001c0036t0009g0295 a0001c0036t0009g0295	1	283	0.0035	1023	c.141 others(1040): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCCAACACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCC CAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCGCCCCACTGTCCCT GCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCATCGCCCCC CACTGTCCCTGCCCACCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTC CCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CACCCCCCACTGTCCCTGCCCATCGCCCCCCCACTGTCCCTGCCCACCCC CCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCTCACCGT CCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCACTGTCCCT GCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCC CCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	949046	T T	TCCCCGCG others(1016): Show TCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCGCGGCCTCCTACTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGC GGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTCCCCGCGGCC TCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	147	0.0068	1023	c.360 others(1042): Show c.360+30272_360+30273insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGG CCGCGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGC GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCCACGGGGAGAGTAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRL1_chr20_64075082_64105633	64097040	C C	CCGTCACC others(1016): Show CCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACC ATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTAT CACCACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCA CCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACC ATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCAC CACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCA TCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATC ACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCAC CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCACCATCATCACCATCACCATCATCACAGTCATC ACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCAC CATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTA TCACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACC ATCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCAT CATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCA CCACCATCATCACCATCACCATCATCACAATCATCACTGTCACCATCATC ACCATCCTCACTATCACCACCACCACCATTACCATCACTATCATCACAGT CATCACCGTCACCATCATCACCATCCTCACTATCACCACCACTACCATCA TCATCACATTCATCATCACTATTACCATCATCATCACCACCATCACCATC ACTATCACCACCATCATTACATTTGTCACCATCACCACCATTATCACCAT CACCGCTATCACCACCACCACCGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG01884.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0021 a0001c0001t0004g0014 a0001c0001t0004g0021	2	17	0.1176	1023	c.234 others(1038): Show c.234-761_234-760insGTCACCATCATCACCATCCTCACTATCACC ACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCAT CATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCA TCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACC ACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCAC CATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCACAG TCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATC ATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCT CACTATCACCACCACCACCATCACCATCACCATCATCACAGTCATCACCG TCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCATC ACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCAC CACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCA TCATCACCATCCTCACTATCACCACCACCATCATCACCATCACCATCATC ACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCAC CATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCA TCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCACAATC ATCACTGTCACCATCATCACCATCCTCACTATCACCACCACCACCATTAC CATCACTATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTA TCACCACCACTACCATCATCATCACATTCATCATCACTATTACCATCATC ATCACCACCATCACCATCACTATCACCACCATCATTACATTTGTCACCAT CACCACCATTATCACCATCACCGCTATCACCACCACCACCGTC	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64097040	C C	CCGTCACC others(1016): Show CCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACC ATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTAT CACCACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCA CCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACC ATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCAC CACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCA TCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATC ACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCAC CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCATCATCACCATCACCATCATCACAGTCATCACC GTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCAT CACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCA CCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATC ATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCAT CACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCA CCATCATCACCATCACCATCATCACAATCATCACTGTCACCATCATCACC ATCCTCACTATCACCACCACCACCATCATTACCATCACTATCATCACAGT CATCACCGTCACCATCATCACCATCCTCACTATCACCACCACTACCATCA TCATCACATTCATCATCACTATTACCATCATCATCACCACCATCACCATC ACTATCACCACCATCATTACATTTGTCACCATCACCACCATTATCACCAT CACCGCTATCACCACCACCACCGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03579.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	2	17	0.1176	1023	c.234 others(1038): Show c.234-761_234-760insGTCACCATCATCACCATCCTCACTATCACC ACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCAT CATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCA TCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACC ACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCAC CATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCACAG TCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATC ATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCT CACTATCACCACCACCACCATCACCATCACCATCATCACAGTCATCACCG TCACCATCATCACCATCCTCACTATCACCACCACCATCATCACCATCACC ATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCAC CACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCA TCACCATCCTCACTATCACCACCACCATCATCACCATCACCATCATCACA GTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCAT CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCACCATCATCACCATCACCATCATCACAATCATC ACTGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATTAC CATCACTATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTA TCACCACCACTACCATCATCATCACATTCATCATCACTATTACCATCATC ATCACCACCATCACCATCACTATCACCACCATCATTACATTTGTCACCAT CACCACCATTATCACCATCACCGCTATCACCACCACCACCGTC	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64097040	C C	CTGTCACC others(1016): Show CTGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACC ATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTAT CACCACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCA CCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACC ATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCAC CACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCA TCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATC ACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCAC CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCATCATCACCATCACCATCATCACAGTCATCACC GTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCAT CACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCA CCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATC ATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCAT CACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCA CCATCATCACCATCACCATCATCACAATCATCACCGTCACCATCATCACC ATCCTCACTATCACCACCACCACCATCATCACCATCACTATCATCACAGT CATCACCGTCACCATCATCACCATCCTCACTATCACCACCACTACCATCA TCATCACATTCATCATCACTATTACCATCATCATCACCACCATCACCATC ACTATCACCACCATCATTACATTTGTCACCATCACCACCATTATCACCAT CACCGCTATCACCACCACCACCGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02559.hp2 HG02602.hp2 others(5): Show HG01433.hp2 HG02559.hp2 HG02602.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0046 others(3): Show a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0011g0048	8	23	0.3478	1023	c.234 others(1038): Show c.234-762_234-761insTGTCACCATCATCACCATCCTCACTATCAC CACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCA TCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATC ATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCAC CACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCA CCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCACA GTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCAT CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCACCATCACCATCACCATCATCACAGTCATCACC GTCACCATCATCACCATCCTCACTATCACCACCACCATCATCACCATCAC CATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCA CCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATC ATCACCATCCTCACTATCACCACCACCATCATCACCATCACCATCATCAC AGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCA TCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATC CTCACTATCACCACCACCACCATCATCACCATCACCATCATCACAATCAT CACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCA CCATCACTATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACT ATCACCACCACTACCATCATCATCACATTCATCATCACTATTACCATCAT CATCACCACCATCACCATCACTATCACCACCATCATTACATTTGTCACCA TCACCACCATTATCACCATCACCGCTATCACCACCACCACCGT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4			chr20	TogoVar
OPRL1_chr20_64075082_64105633	64097040	C C	CTGTCACC others(1016): Show CTGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACC ATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTAT CACCACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCA CCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACC ATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCAC CACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCA TCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATC ACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCAC CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCATCATCACCATCACCATCATCACAGTCATCACC GTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCAT CACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCA CCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATC ATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCAT CACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCA CCATCATCACCATCACCATCATCACAATCATCACTGTCACCATCATCACC ATCCTCACTATCACCACCACCACCATCATTACCATCACTATCATCACAGT CATCACCGTCACCATCATCACCATCCTCACTATCACCACCACTACCATCA TCATCACATTCATCATCACTATTACCATCATCATCACCACCATCACCATC ACTATCACCACCATCATTACATTTGTCACCATCACCACCATTATCACCAT CACCGCTATCACCACCACCACCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02074.hp1 HG02165.hp1 others(6): Show HG01433.hp1 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG02970.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021	a0001c0001t0002g0038 a0001c0001t0003g0009 a0001c0001t0003g0039 others(6): Show a0001c0001t0002g0038 a0001c0001t0003g0009 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0016g0009 a0001c0001t0020g0020 a0001c0001t0021g0015	9	24	0.3750	1023	c.234 others(1038): Show c.234-762_234-761insTGTCACCATCATCACCATCCTCACTATCAC CACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCA TCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATC ATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCAC CACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCA CCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCACA GTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCAT CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCACCATCACCATCACCATCATCACAGTCATCACC GTCACCATCATCACCATCCTCACTATCACCACCACCATCATCACCATCAC CATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCA CCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATC ATCACCATCCTCACTATCACCACCACCATCATCACCATCACCATCATCAC AGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCA TCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATC CTCACTATCACCACCACCACCATCATCACCATCACCATCATCACAATCAT CACTGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATTA CCATCACTATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACT ATCACCACCACTACCATCATCATCACATTCATCATCACTATTACCATCAT CATCACCACCATCACCATCACTATCACCACCATCATTACATTTGTCACCA TCACCACCATTATCACCATCACCGCTATCACCACCACCACCGT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4			chr20	TogoVar
OPRL1_chr20_64075082_64105633	64097040	C C	CTGTCACC others(1016): Show CTGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACC ATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTAT CACCACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCA CCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACC ATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCAC CACCACCATCATCACCATCACCATCATCACAGTCATTACCGTCACCATCA TCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATC ACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCAC CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCATCATCACCATCACCATCATCACAGTCATCACC GTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATCACCAT CACCATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCA CCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATC ATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCAT CACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCA CCATCATCACCATCACCATCATCACAATCATCACTGTCACCATCATCACC ATCCTCACTATCACCACCACCACCATCATTACCATCACTATCATCACAGT CATCACCGTCACCATCATCACCATCCTCACTATCACCACCACTACCATCA TCATCACATTCATCATCACTATTACCATCATCATCACCACCATCACCATC ACTATCACCACCATCATTACATTTGTCACCATCACCACCATTATCACCAT CACCGCTATCACCACCACCACCGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 others(1): Show HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0042 a0001c0001t0003g0002 a0001c0001t0003g0042	4	19	0.2105	1023	c.234 others(1038): Show c.234-762_234-761insTGTCACCATCATCACCATCCTCACTATCAC CACCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCA TCATCACCATCCTCACTATCACCACCACCACCATCATCACCATCACCATC ATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCAC CACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCA CCATCCTCACTATCACCACCACCACCATCATCACCATCACCATCATCACA GTCATTACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCAT CATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATCC TCACTATCACCACCACCACCATCACCATCACCATCATCACAGTCATCACC GTCACCATCATCACCATCCTCACTATCACCACCACCATCATCACCATCAC CATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACTATCACCA CCACCACCATCATCACCATCACCATCATCACAGTCATCACCGTCACCATC ATCACCATCCTCACTATCACCACCACCATCATCACCATCACCATCATCAC AGTCATCACCGTCACCATCATCACCATCCTCACTATCACCACCACCACCA TCATCACCATCACCATCATCACAGTCATCACCGTCACCATCATCACCATC CTCACTATCACCACCACCACCATCATCACCATCACCATCATCACAATCAT CACTGTCACCATCATCACCATCCTCACTATCACCACCACCACCATCATTA CCATCACTATCATCACAGTCATCACCGTCACCATCATCACCATCCTCACT ATCACCACCACTACCATCATCATCACATTCATCATCACTATTACCATCAT CATCACCACCATCACCATCACTATCACCACCATCATTACATTTGTCACCA TCACCACCATTATCACCATCACCGCTATCACCACCACCACCGT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4			chr20	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CGCGGGGG others(1016): Show CGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGG GGGCGGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGG GACGCGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGG ACGGGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACG GGGGGGACGCGGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACG CGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGGGAC GCGGGGGGCGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCG GGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGG GGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACGGG GGGGACGCGGGGGGGACGCGGGGGGGGACGCGGGGGACGGGGGGGACGCG GGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGGA CGCGGGGGACGCGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGG ACGCGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGGAC GCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGA CGCGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGGACGCGGGGGG GACGCGGGGGGGACGCGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGG GGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGCGGGGGGGGACGC GGGGGGGACGCGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGA CGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGG GGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGG GGGACGGGGGGGGACCCGGGGGAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	133	0.0075	1023	c.147 others(1042): Show c.1474-1011_1474-1010insATCCCCCGGGTCCCCCCCCGTCCCCC CCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCC GCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTC CCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCGCGTCCCCCCCGC GTCCCCCCCCGCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCC CGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCGCGTCCCCCCCGCGTCCC CCCCGCGTCCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTC CCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGT CCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCC CCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCGCGTCCCCCGCGTC CCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCCCCGCGTCCCCCCCGCGTCCCCCC CGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGCCCCCCGCGT CCCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCG TCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCCGCGTCCCCCCCG TCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCC CCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCC CCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGCCCCC CGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RPTOR_chr17_80539838_80971368	80930448	T T	TCAGCTCA others(1016): Show TCAGCTCATCCCCACCTCATCCCCAGCTCATCCCCACCTCATCCCCACCT CATCCTCAGCTCATCCTCAGCTCATTCTCATCCCCAGCTCATCCCCAGCT CATCCCCACCTCATCCCCAGCTCCTCCCCACCTCATCCTCAGCTCATCCC CAGGTCATCCTCAGTTCATCCCCACGTCATCCCCAGCTCATCCTCAGCTC AGCTCATCCTCAGCTCATCCTCAGCTCAGCTCATCCTCAGCTCAACCCCA GCTCATCTCCAGCTCAGCTCATCCCCAGCTCATCTTCAGCTCAGCTCATC CCCAGCTCATCCCCAGATCATCCCCAGCTCATCCCCAGCTCATCCTCAGA TCATCCCCAGCTCATCTCAGATCATCCCCAGCTCATCCTCAGATCATCCC CAGCTCATCCTCAGCTCATCCTCAGCTCAACTCATCCCCAGCTCAGCTCA TTCCCAGCTAATCCTCAGCTCAGCTCATCCCCAGCTCATCCCCAGCTCAG CTCATCCCCAGCCCAGGTCATCCCCAGCCCATCCTCAGCTCATCCTCAGC TCATCCTCCACTCATCCCCTGCTCATTCTCAGCTCATCTTCAGCTCAGCT CATCCCCAGTTCATCCCCAGCTCATCCTCAGCTCCGCTCATCCTCGGCTC AGCTCATCCTTAGCTCATCCTCAGCTCATCCCCAGCTCATCCCCAGCTTA TTCCCAGCTCATCCCCAGCTCATCCCCAGCTCATCCTCAGCTCATCCCCA GCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCATCCCCAGCTCAT CCCCAGCTCAGGTCACCCTCAGCTCATCCCAGCTCAGCTCACCCTTAGCT TATCCTCAGCTCACCCTCAGCTCATCCCCAGCTCATCCCAGCTCATCCCC AGCTCATCCCCAGCTCATCCCCAGCTCATCCTCAGCTCATCCTCAGCTCA GCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCATCCCCAGCTCAT CCTCAGCTCATCCCCAGCTCATCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0029 a0001c0011t0029	a0001c0011t0029g0196 a0001c0011t0029g0196	1	4	0.2500	1023	c.291 others(1042): Show c.2919+4981_2919+4982insCCTCATCCCCAGCTCATCCCCACCTC ATCCCCACCTCATCCTCAGCTCATCCTCAGCTCATTCTCATCCCCAGCTC ATCCCCAGCTCATCCCCACCTCATCCCCAGCTCCTCCCCACCTCATCCTC AGCTCATCCCCAGGTCATCCTCAGTTCATCCCCACGTCATCCCCAGCTCA TCCTCAGCTCAGCTCATCCTCAGCTCATCCTCAGCTCAGCTCATCCTCAG CTCAACCCCAGCTCATCTCCAGCTCAGCTCATCCCCAGCTCATCTTCAGC TCAGCTCATCCCCAGCTCATCCCCAGATCATCCCCAGCTCATCCCCAGCT CATCCTCAGATCATCCCCAGCTCATCTCAGATCATCCCCAGCTCATCCTC AGATCATCCCCAGCTCATCCTCAGCTCATCCTCAGCTCAACTCATCCCCA GCTCAGCTCATTCCCAGCTAATCCTCAGCTCAGCTCATCCCCAGCTCATC CCCAGCTCAGCTCATCCCCAGCCCAGGTCATCCCCAGCCCATCCTCAGCT CATCCTCAGCTCATCCTCCACTCATCCCCTGCTCATTCTCAGCTCATCTT CAGCTCAGCTCATCCCCAGTTCATCCCCAGCTCATCCTCAGCTCCGCTCA TCCTCGGCTCAGCTCATCCTTAGCTCATCCTCAGCTCATCCCCAGCTCAT CCCCAGCTTATTCCCAGCTCATCCCCAGCTCATCCCCAGCTCATCCTCAG CTCATCCCCAGCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCATC CCCAGCTCATCCCCAGCTCAGGTCACCCTCAGCTCATCCCAGCTCAGCTC ACCCTTAGCTTATCCTCAGCTCACCCTCAGCTCATCCCCAGCTCATCCCA GCTCATCCCCAGCTCATCCCCAGCTCATCCCCAGCTCATCCTCAGCTCAT CCTCAGCTCAGCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCATC CCCAGCTCATCCTCAGCTCATCCCCAGCTCATCCCAGCTCATCCCCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	24/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80930448	T T	TCAGCTCA others(1016): Show TCAGCTCATCCCCACCTCATCCCCAGCTCATCCCCACCTCATCCCCACCT CATCCTCAGCTCATCCTCAGCTCATTCTCATCCCCAGCTCATCCCCAGCT CATCCCCACCTCATCCCCAGCTCCTCCCCACCTCATCCTCAGCTCATCCC CAGGTCATCCTCAGTTCATCCCCAGGTCATCCCCAGCTCATCCTCAGCTC AGCTCATCCTCAGCTCATCCTCAGCTCAGCTCATCCTCAGCTCAACCCCA GCTCATCTCCAGCTCAGCTCATCCCCAGCTCATCTTCAGCTCAGCTCATC CCCAGCTCATCCCCAGATCATCCCCAGCTCATCCCCAGCTCATCCTCAGA TCATCCCCAGCTCATCTCAGATCATCCCCAGCTCATCCTCAGATCATCCC CAGCTCATCCTCAGCTCATCCTCAGCTCAACTCATCCCCAGCTCAGCTCA TTCCCAGCTAATCCTCAGCTCAGCTCATCCCCAGCTCATCCCCAGCTCAG CTCATCCCCAGCCCAGGTCATCCCCAGCCCATCCTCAGCTCATCCTCAGC TCATCCTCCACTCATCCCCTGCTCATTCTCAGCTCATCTTCAGCTCAGCT CATCCCCAGTTCATCCCCAGCTCATCCTCAGCTCCGCTCATCCTCGGCTC AGCTCATCCTTAGCTCATCCTCAGCTCATCCCCAGCTCATCCCCAGCTTA TTCCCAGCTCATCCCCAGCTCATCCCCAGCTCATCCTCAGCTCATCCCCA GCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCATCCCCAGCTCAT CCCCAGCTCAGGTCACCCTCAGCTCATCCCAGCTCAGCTCACCCTTAGCT TATCCTCAGCTCACCCTCAGCTCATCCCCAGCTCATCCCAGCTCATCCCC AGCTCATCCCCAGCTCATCCCCAGCTCATCCTCAGCTCATCCTCAGCTCA GCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCATCCCCAGCTCAT CCTCAGCTCATCCCCAGCTCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(56): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG02015.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02886.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19082.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(31): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0001c0013 a0001c0018 a0001c0021 a0001c0023 a0001c0024 a0001c0027 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0039 a0001c0041 a0001c0042 a0001c0049 a0001c0059 a0001c0064 a0001c0072 a0001c0079 a0001c0080 a0001c0081 a0001c0083 a0001c0085 a0001c0089 a0001c0093 a0001c0094 a0001c0095 a0001c0097	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(52): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0003t0001 a0001c0004t0023 a0001c0006t0022 a0001c0009t0001 a0001c0009t0012 a0001c0009t0028 a0001c0011t0047 a0001c0011t0062 a0001c0013t0021 a0001c0018t0009 a0001c0018t0016 a0001c0018t0017 a0001c0021t0018 a0001c0021t0079 a0001c0023t0009 a0001c0024t0002 a0001c0024t0003 a0001c0024t0037 a0001c0027t0016 a0001c0027t0097 a0001c0030t0003 a0001c0031t0027 a0001c0032t0033 a0001c0032t0098 a0001c0033t0023 a0001c0033t0099 a0001c0039t0061 a0001c0041t0004 a0001c0042t0055 a0001c0049t0011 a0001c0059t0080 a0001c0064t0005 a0001c0072t0005 a0001c0079t0050 a0001c0080t0011 a0001c0081t0002 a0001c0083t0028 a0001c0085t0003 a0001c0089t0005 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0097t0001	a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 others(56): Show a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0009g0030 a0001c0001t0015g0088 a0001c0001t0019g0049 a0001c0001t0019g0056 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0007g0136 a0001c0002t0010g0063 a0001c0002t0017g0118 a0001c0002t0039g0091 a0001c0002t0040g0108 a0001c0003t0001g0156 a0001c0004t0023g0077 a0001c0006t0022g0093 a0001c0009t0001g0125 a0001c0009t0012g0106 a0001c0009t0028g0113 a0001c0011t0047g0079 a0001c0011t0062g0114 a0001c0013t0021g0096 a0001c0018t0009g0065 a0001c0018t0016g0120 a0001c0018t0017g0141 a0001c0021t0018g0014 a0001c0021t0079g0006 a0001c0023t0009g0070 a0001c0024t0002g0047 a0001c0024t0003g0133 a0001c0024t0037g0095 a0001c0027t0016g0189 a0001c0027t0097g0059 a0001c0030t0003g0116 a0001c0030t0003g0117 a0001c0031t0027g0173 a0001c0032t0033g0039 a0001c0032t0098g0052 a0001c0033t0023g0078 a0001c0033t0099g0026 a0001c0039t0061g0177 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0049t0011g0081 a0001c0059t0080g0005 a0001c0064t0005g0074 a0001c0072t0005g0076 a0001c0079t0050g0100 a0001c0080t0011g0080 a0001c0081t0002g0022 a0001c0083t0028g0158 a0001c0085t0003g0162 a0001c0089t0005g0159 a0001c0093t0070g0157 a0001c0094t0057g0137 a0001c0095t0003g0138 a0001c0097t0001g0155	59	62	0.9516	1023	c.291 others(1042): Show c.2919+4981_2919+4982insCCTCATCCCCAGCTCATCCCCACCTC ATCCCCACCTCATCCTCAGCTCATCCTCAGCTCATTCTCATCCCCAGCTC ATCCCCAGCTCATCCCCACCTCATCCCCAGCTCCTCCCCACCTCATCCTC AGCTCATCCCCAGGTCATCCTCAGTTCATCCCCAGGTCATCCCCAGCTCA TCCTCAGCTCAGCTCATCCTCAGCTCATCCTCAGCTCAGCTCATCCTCAG CTCAACCCCAGCTCATCTCCAGCTCAGCTCATCCCCAGCTCATCTTCAGC TCAGCTCATCCCCAGCTCATCCCCAGATCATCCCCAGCTCATCCCCAGCT CATCCTCAGATCATCCCCAGCTCATCTCAGATCATCCCCAGCTCATCCTC AGATCATCCCCAGCTCATCCTCAGCTCATCCTCAGCTCAACTCATCCCCA GCTCAGCTCATTCCCAGCTAATCCTCAGCTCAGCTCATCCCCAGCTCATC CCCAGCTCAGCTCATCCCCAGCCCAGGTCATCCCCAGCCCATCCTCAGCT CATCCTCAGCTCATCCTCCACTCATCCCCTGCTCATTCTCAGCTCATCTT CAGCTCAGCTCATCCCCAGTTCATCCCCAGCTCATCCTCAGCTCCGCTCA TCCTCGGCTCAGCTCATCCTTAGCTCATCCTCAGCTCATCCCCAGCTCAT CCCCAGCTTATTCCCAGCTCATCCCCAGCTCATCCCCAGCTCATCCTCAG CTCATCCCCAGCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCATC CCCAGCTCATCCCCAGCTCAGGTCACCCTCAGCTCATCCCAGCTCAGCTC ACCCTTAGCTTATCCTCAGCTCACCCTCAGCTCATCCCCAGCTCATCCCA GCTCATCCCCAGCTCATCCCCAGCTCATCCCCAGCTCATCCTCAGCTCAT CCTCAGCTCAGCTCATCCTCACCTTATCCCCAGATCATCCCCAGATCATC CCCAGCTCATCCTCAGCTCATCCCCAGCTCATCCCAGCTCATCCCCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	24/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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