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
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02886.hp1 HG02897.hp1 others(4): Show HG01256.hp1 HG02886.hp1 HG02897.hp1 HG02976.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 others(4): Show a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0003g0130 a0001c0001t0009g0136 a0001c0001t0012g0142 a0001c0001t0021g0145	7	160	0.0438	833	c.217 others(852): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCTGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0138 a0001c0001t0023g0138	1	154	0.0065	833	c.217 others(852): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCTGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGTGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	154	0.0065	833	c.217 others(852): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGT GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	154	0.0065	833	c.217 others(852): Show c.217-24044_217-24043insTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCC GTCGGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGG TCAGCCCTCCACCCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGCCA GCCGCCC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL9_chr5_181035266_181066521	181045807	C C	CTCCTCCA others(826): Show CTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAG CCTGTAGTGTTCCTCCACCATCTCCCCAGCCCTCAATACCTCCTCCACCA TCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTT CCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCC CCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCAT CTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTC CTCCACCATCTCCCCAGCCCTCAATACCTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCT CCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCC TCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTC CAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCC CCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCCCCAGCCTGTAGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18966.hp1 NA19054.hp1 HG00597.hp1 NA18966.hp1 NA19054.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0124 a0001c0005t0004g0133 a0001c0005t0004g0134 a0001c0005t0004g0124 a0001c0005t0004g0133 a0001c0005t0004g0134	3	372	0.0081	833	c.109 others(848): Show c.109+223_109+224insCCCAGCCCCCAACACCTCCTCCACCATCTC CCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCTCAATACCTCCTC CACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTA GTGTTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCC CAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCC ACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAG TGTTCCTCCACCATCTCCCCAGCCCTCAATACCTCCTCCACCATCTCCCC AGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCAC CATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACA CCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCA GCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACC ATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGT TCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGC CCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCA TCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACC TCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGC CCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCAT CTC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C1orf159_chr1_1076823_1121089	1078548	G G	GGGGACTC others(826): Show GGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGG CTGAGGCTATGGGGACTCGTGGGGGGAGGCTGAGGCTATGGGGACTCCAT CGGGGGAGGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATG GGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT GCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGAGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCT GAGGCTATGGGGACTCCGTGGCGGAGGCTGAGGCTATGGGGACTCCGTGG CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGTGGCTG TGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGG ACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGA GGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGG GGGACGCTGAGGCTATGGGGACTCCGTGGGGGACGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGACTCCGTGGGGGGAGGCTGAGG CTATGGGGACTCCGTGGGGGGAGGCTGAGTCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	324	0.0031	833	c.43 others(844): Show c.4344_*4345insATAGACTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCCCCACGGAGTCCCATAGCCTCAGCCTCCCCCCACGGAG TCCCCATAGCCTCAGCGTCCCCCACGGAGTCCCCATAGCCTCAGCGTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGCC TCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGACTCAGCCTCCCGGCACGGAGTCCCATAGACTCAGCCTCCCG GCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGCCA CAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAGTC CCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCG CCACGGAGTCCCCATAGCCTCAGCCTCCGCCACGGAGTCCCCATAGCCTC AGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCC CCATAGCCTCAGCCTCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGC ACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCA GCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCC CATAGCCTCAGCCTCCCCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCG ATGGAGTCCCCATAGCCTCAGCCTCCCCCCACGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAGTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3274		chr1	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(826): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGA GGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGAGGG AGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGACGGAG GGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGG AGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03490.hp1 HG03492.hp2 HG01358.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	3	276	0.0109	833	c.465 others(848): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCG CCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCC GTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTC CCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCC TCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCGTC CCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCT CCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCC CTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGT CCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCC GTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGT CCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCC CGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCG CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCT CCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(826): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	38	0.0263	833	c.248 others(850): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTG GTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTG CAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(826): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	38	0.0263	833	c.248 others(850): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTG CAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(826): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	38	0.0263	833	c.248 others(850): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTG CAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(826): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	38	0.0263	833	c.248 others(850): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTG CAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGGGGGGG others(826): Show GGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG GCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCA GTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTG GCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCC CCCACCTCCCTCCTGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0314 a0001c0002t0001g0314	1	270	0.0037	833	c.844 others(850): Show c.844-1087_844-1086insGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGTGGCTGGCCGGGCAGGG GGGCTGACACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGA GGGGCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCC CGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGC GGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGCACGGCTGGCCGGGC GGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(826): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG GCTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0190 a0002c0003t0002g0190	1	42	0.0238	833	c.844 others(850): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGAC CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGA CGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(826): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0308 a0006c0018t0001g0308	1	42	0.0238	833	c.844 others(850): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGAC GGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGA CGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(826): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG GCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGG GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG GACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0008 a0001c0079t0008	a0001c0079t0008g0189 a0001c0079t0008g0189	1	128	0.0078	833	c.106 others(852): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCG GCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG GACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CTU2_chr16_88701503_88720396	88713207	C C	CCGAGAGC others(826): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCAGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0097 a0002c0003t0001g0097	1	404	0.0025	833	c.738 others(848): Show c.738-104_738-103insGAGAGCCCCCTTTCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCAGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TAC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88713207	C C	CCGAGAGC others(826): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02056.hp2 HG03942.hp2 others(6): Show HG00099.hp1 HG02056.hp2 HG03942.hp2 NA18964.hp1 NA18979.hp1 NA18982.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0064 a0002c0003t0001g0067 others(3): Show a0002c0003t0001g0012 a0002c0003t0001g0064 a0002c0003t0001g0067 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0098	9	412	0.0218	833	c.738 others(848): Show c.738-104_738-103insGAGAGCCCCCTTTCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TAC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113263068	C C	CGGATCTG others(826): Show CGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGC TTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACG TGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGC CTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTT ATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTG CCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGC TGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGC AGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTC GGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTG CCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCT TATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGT GCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTG CTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGG CAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGT CGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	381	0.0026	833	c.218 others(850): Show c.2185-417_2185-416insATCTGCCTCGCTTATACGTGCCCTTGCT GATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCA GATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCG GGTCTGCCTCGCTTATACGTGTCTGCCTCGCTTATACGTGCCCTTGCTGA TGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGA TGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGA TCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCT CGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTAT ACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCC CTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTG ATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAG ATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGG ATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCC TCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTA TACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGC CCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCT GATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCA GATGG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
EBF3_chr10_129830233_129969274	129920077	G G	GAGTATCT others(826): Show GAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCG AGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCA GTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGAG TATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGAGT ATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAGTA TCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTAT CTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCCAGTATC TCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCT CCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAGTATCTC CAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGAGTATCTCC AGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAGTATCTCCA GGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAG GAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAGTATCTCCAGG AGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGA GGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGAG GGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGAGG GCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	138	0.0072	833	c.554 others(852): Show c.554+37180_554+37181insGGCCCTAGACCGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGT TTGTGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTT TGTGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTT GTGGCCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTG TGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTTGT GGCCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTG GCCCTCCTGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGG CCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGC CCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTTGTGGCC CTCCTGGAGATACTGGCCCTAGACTGCACAGCGGGGCGGGTTTGTGGCCC TCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTTGTGGCCCT CCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTC CTGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCC TGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCCT GGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCCTG GAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCCTGG AGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EHMT1_chr9_137614005_137841127	137716318	T T	TGGGGGAG others(826): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	163	0.0061	833	c.86- others(846): Show c.86-292_86-291insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGA GGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGT G	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML5_chr14_88607431_88797953	88796356	A A	ATATATAT others(826): Show ATATATATATTATATGTTATATATATTATATATATATTATATGTTATATA TTTTATATATATATTATATGTTATATATATTATATATATATTATATGTTA TATATTTTATATATATATTATATGTTATATATATTATATATATTTTATAT ATATATTATGTTTATATATTATATATATTATATATATTATATGTTATATA TATTATATATATTATATATCTTATATGTTATATATATTATATATATATTA TGTTATATATATTATATATATTATGTTATATATAATATATATTATATGTT ATATATGTTATACATATTATATGTTATATGTTATATATATTATATATGTT ATATGTTATATATTATATATATTATGTATATTATATGTTATATATATTAT ATATATTATGTATATTATATGTTTTATATATTATATATTATATATATTAT ATGTTTTATATATTATATATTATATATATTATATGTTATATATATTATAT ATTATATACATTATATGTTATATATATTATATATTATATATATTATATGT TATATATATTATATATTATATATATTATATGTTATATATATTATATATTA TATATATTATATGTTATATATATTATATATTATATATATTATATGTTATA TATATTATATATTATATATATTATATGTTATATATATTATATATTATATA TATTATATGTTATATATATTATATATATTATATATATATTATATGTTATA TATATTATATATATATTATATGTTATATATATTATATATATATTATATGT TATATATATTATATATATATTATATGTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	326	0.0031	833	c.-38 others(844): Show c.-3854_-3853insATATATAACATATAATATATATATAATATATATA ACATATAATATATATATAATATATATAACATATAATATATATATAATATA TATAACATATAATATATATATAATATATATAATATATATAACATATAATA TATATAATATATAATATATATAACATATAATATATATAATATATAATATA TATAACATATAATATATATAATATATAATATATATAACATATAATATATA TAATATATAATATATATAACATATAATATATATAATATATAATATATATA ACATATAATATATATAATATATAATATATATAACATATAATGTATATAAT ATATAATATATATAACATATAATATATATAATATATAATATATAAAACAT ATAATATATATAATATATAATATATAAAACATATAATATACATAATATAT ATAATATATATAACATATAATATACATAATATATATAATATATAACATAT AACATATATAATATATATAACATATAACATATAATATGTATAACATATAT AACATATAATATATATTATATATAACATAATATATATAATATATATAACA TAATATATATATAATATATATAACATATAAGATATATAATATATATAATA TATATAACATATAATATATATAATATATATAATATATAAACATAATATAT ATATAAAATATATATAATATATATAACATATAATATATATATAAAATATA TAACATATAATATATATATAATATATATAACATATAATATATATATAAAA TATATAACATATAATATATATATAATATATATAACATATAATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3404		chr14	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(826): Show CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACACACGCAGACACACACACACACACACAGTAAATACATCCCG ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGA CACAAACACATACACACGCAGACACACACACACACACAAACACACAGTAA ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC ACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACACA CACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGAC ACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACA CGCAGACACACACACACACACACACAAACAGTAAATACATCCCGACAGGG ACAGACACAGACACAGACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0138 a0007c0011t0003g0138	1	69	0.0145	833	c.488 others(848): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTCTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTGTC TGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGT GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAG TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT GTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG TGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACT GTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGAT GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTA CTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCC CTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATG TGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGT GTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTG TGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(826): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATATAATATATAATATATATATTATATAAAATATATA ATATATATCTTATATATATCATATATTTTATATAATATATATTTTATATA TATCATATATTTTATATATAATATATATTATATATACATTATATAATATA TATTATATTATATATATTATATATTATATAATATATATTATATATTATAC GTAATATATAATGTATATTATATATAATATATTATGTATATAATGTATAT TATATATAATATACATTATATATAATGTATATTATATATAATATACATTA TATATAATGTATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTGTATATAATGTATATATTACATATAATATACATTG TATATAATGTATATTATATGTAATATATACATTATATACAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATATAATGTATATTATATGTAATATATACATTACATATAATGTATAT TATATGTAATATATACATTACATAATGTATATTATATGTAATATATACAT TACATAATGTATATTATATGTAATATATACATTATATAATATATACATTG TATATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA TATATAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	132	0.0076	833	c.94- others(846): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATATAATATATAATATATAT ATTATATAAAATATATAATATATATCTTATATATATCATATATTTTATAT AATATATATTTTATATATATCATATATTTTATATATAATATATATTATAT ATACATTATATAATATATATTATATTATATATATTATATATTATATAATA TATATTATATATTATACGTAATATATAATGTATATTATATATAATATATT ATGTATATAATGTATATTATATATAATATACATTATATATAATGTATATT ATATATAATATACATTATATATAATGTATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTGTATATAATGTATATATT ACATATAATATACATTGTATATAATGTATATTATATGTAATATATACATT ATATACAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATATAATGTATATTATATGTAATATATACA TTACATATAATGTATATTATATGTAATATATACATTACATAATGTATATT ATATGTAATATATACATTACATAATGTATATTATATGTAATATATACATT ATATAATATATACATTGTATATAATGTATATTATATATAATATATACATT GTATATAATGTATATTATATATAATATATACATTGTATATAATGTATATT A	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HCN2_chr19_584881_622159	602382	C C	CCCTCCTC others(826): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp1 HG02965.hp1 HG03579.hp1	a0004 a0004	a0004c0029 a0004c0089 a0004c0029 a0004c0089	a0004c0029t0002 a0004c0089t0003 a0004c0029t0002 a0004c0089t0003	a0004c0029t0002g0103 a0004c0089t0003g0106 a0004c0029t0002g0103 a0004c0089t0003g0106	2	372	0.0054	833	c.633 others(850): Show c.633-1092_633-1091insCTCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT TCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IQSEC3_chr12_61767_183455	163229	C C	CCCCTCCC others(826): Show CCCCTCCCCTCCCCTCCCTCCACAGAACGGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCC CCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCG GACCCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19077.hp1 HG03017.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0011 a0001c0037t0011 a0001c0003t0011 a0001c0037t0011	a0001c0003t0011g0140 a0001c0037t0011g0196 a0001c0003t0011g0140 a0001c0037t0011g0196	2	273	0.0073	833	c.258 others(850): Show c.2584-238_2584-237insGGGACCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC CTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAAC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(826): Show CTCCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCC CTCTAATCACATTCCCCATCCCTCTAATCACACACCCCATCCCCTCTAAT CACACTCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCA CCCCCCAATCACACTACCCACCCCCTCTAATCACACTCCCCACCCCCAAT CACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCC ACCCCCAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAAT CACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCACACTCCCC ACCCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTC TAATCACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACT CCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCT CTAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCAATCACAC TCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCC TCTAATCACACTCCCCACCCCCTAATCACACTCCCCACCCCAATCACACT CCCCATCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCC CAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCA CACTCCCCACCCCCTCTAATCACACTCCCCACCCCCCAATCACACTCCCC ACCCCCCAATCACACTCCCCACCCCCCAATCACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG02257.hp2 others(11): Show HG00423.hp1 HG00558.hp1 HG02257.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG06807.hp2 NA18973.hp1 NA18990.hp2 NA18994.hp1 NA19088.hp1 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0040 others(11): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0040 a0001c0001t0002g0069 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0122 a0001c0001t0002g0213 a0001c0001t0002g0225 a0001c0001t0002g0236 a0001c0001t0002g0256 a0001c0002t0001g0190	14	24	0.5833	833	c.104 others(852): Show c.1048-1427_1048-1426insTGTGATTGGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGT GGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGATTGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGG GGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTG TGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGG GGTGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGT GTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGG GGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAG TGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGGTGG GGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGA TTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGG GGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGTAGTGTGA TTGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGG GGAGTGTGATTAGAGGGGATGGGGTGTGTGATTAGAGGGATGGGGAATGT GATTAGAGGGGGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCGT GTGGGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360517	G G	GGGTGGAG others(826): Show GGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGG GTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGT GGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGATGGGTGGGTGGAGGG ATAGATGGGTGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGT GGGTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGG GTGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGAT AGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGG GTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAG ATGGGTGGGTGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGT GGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGG ATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGT GGAGGAATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGATGG GTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGGTGGGTGGAG GGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGT GGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGG GTGGGTGGATGGGTGGGTGGAGGGATAGATGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0021 a0021	a0021c0125 a0021c0125	a0021c0125t0001 a0021c0125t0001	a0021c0125t0001g0064 a0021c0125t0001g0064	1	155	0.0065	833	c.450 others(850): Show c.450+1882_450+1883insACCCATCTATCCCTCCACCCACCCATCC ACCCACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCCATCTAT CCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCACCCAT CTATCCCTCCACCCACCCATCCACCCACCCACCCACCTACCTATCCTTCT ACCCACCCATCCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTAT TCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCC ATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCAC CCATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCACCC ACCCATCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCAC CCACCCACCCATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCC ACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCAC CCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCC ACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCT CCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCACCC ATCTATCCCTCCACCCACCCATCCACCCACCCACCTATCCATCCACCCAC CCACCCACCCACCCATCTATTCCTCCACCCACCCATCCACCTATCCATCC ACCCACCCACCCACCTACCTATCCTTCTACCCACCCACCCATCTATCCCT CCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(826): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCGCCCCCTTCC CCTCCCCTCCCCCGTCCCCTCCCCGCCCCTCCCCCCTCCCCCCTCCCCTC CTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTT CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCC TCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCC CCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTC CCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCC CCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTT CCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCT TCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCC CTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCC TTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTC CTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0112 a0002c0016t0002g0112	1	8	0.1250	833	c.115 others(850): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCGCCCCCT TCCCCTCCCCTCCCCCGTCCCCTCCCCGCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCC CTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCTTCCCCTCCCTCCCCTCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTC CCCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCC CTCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCC TCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCC CTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCC CCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTT CCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTC CCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCA CTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCC TCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(826): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCT CCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCC ACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCT CCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCC CTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCC CCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCCC CTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTC CCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTT CCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCC TCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCT TCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCC TCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0216 a0001c0007t0002g0216	1	8	0.1250	833	c.115 others(850): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCC TTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCAC CCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCC CCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCT CCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCC TTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCC CTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTC CCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCC CCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCAC TCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCCTCCCCTCCCC TCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925244	T T	TCCCCTCC others(826): Show TCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCCTCCC CCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCT TCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCC TCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTC CCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCC CTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCT CCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCT CCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCC TCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGC CCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCC ACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCC CTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0169 a0002c0015t0003g0169	1	273	0.0037	833	c.115 others(850): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCC TTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCAC CCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCC CCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCT CCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCC TTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCC CTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTC CCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCC CCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCAC TCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCC TCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSR1_chr8_16102881_16197651	16189618	A A	ATATATAT others(826): Show ATATATATTTGATATATATTTTTTATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATTTTATATATATATAAAATCTTACTT TATATTTTATATATATGAAATCTTACTTTATATATATTTTATATATATAT AAAATCTTACTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATA TATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAAAA TAAGATTTTATATATATATATAAAATAAGATTTTATATATATATATAAAA TAAGATTTTATATATATATATAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATATATA TAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTAT TTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0219	1	295	0.0034	833	c.-5+ others(848): Show c.-5+2979_-5+2980insTAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTAT ATATATTTTATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAAAT CTTATTTTATATATATATATAAAATCTTATTTTATATATATATATAAAAT CTTATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATAT AAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATA TATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGA TTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAAA TATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATAAAAAATATATATCAAATAT ATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136528413	A A	GGTGCGGG others(826): Show GGTGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGG GGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGAT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG ATGGGCAGGGACCGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAG TGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGG GGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGG GCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGC AGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGATGGGCAGGG ACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATG GGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGG ACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTAGGGGGGGATGGGCAGGGACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	317	0.0032	833	c.141 others(850): Show c.141-4434_141-4433insGTCCCTGCCCATCCCCCCCTACTGTCCC TGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCC CCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCC ACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCG TCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCGCACTGTC CCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCACTGTCCTTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCCCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACGGTCCCTG CCCATCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC CCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCC CCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCC GCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(826): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGAGGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGGAGGGAAAGGGGGAGGGGAAGGGGGAGGGGAGGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGAGGAGTGGGGAGGGGAGGAGGGGAGAAGGGGAG GGAGGAGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGAGG AGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAG GGGAGGGGAGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AGGGGGAGGGGAGGAGGGGGAGGGAGGAGGGGGAGGGGAGGGGGGAGAGG GGAGGGGAAGGGGGAGGGGAGGGGAGAGGGGAGGAGGAGGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGGAGGGGAGGA AAGGAAGGGAGGGAAGGGGGAGGGGGAGGAGTGGAGAGGAGGATGAGGGG AGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGG AGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGT GCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGA AGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0194 a0001c0004t0001g0194	1	4	0.2500	833	c.279 others(848): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCCTCCCCCTTCCCTCCCTT CCTTTCCTCCCCTCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCTCCCCTCTCCCCTCCCCTCCCCCTTCCC CTCCCCTCTCCCCCCTCCCCTCCCCCTCCTCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCCC TCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCTC CTCCCTCCCCTTCTCCCCTCCTCCCCTCCCCACTCCTCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTTCCCCTCCCCCTTTCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTCCCTCCCCTTCCCACCCCTCCCT TCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTC TTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCT others(826): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCACCCTCCCC CCCTCCCCTTCCCCTTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	206	0.0049	833	c.433 others(850): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAAGGGGAAGG GGAGGGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(826): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACATCACACACACCATACACCACACACACACCACACACTACACA CCACACCCACCCACGCATACCACACATATCCCCTTACATACCACACACAT CCCCTACACACACGCCACATACACACACCATACACATCCCCCACAGACAC ACATACCCCTACATACCACACACATCCCCTACACACATGCCATACACACA CCATACACATCCCCCACAGACACACATACACACCACACACATACACAAAC ACTGCACACATACACACCCCACACATACAACACACACGACACACCACACA CATACACAAACACTGCACACATACACACCCCACACATACAACACACACGA CACACCACACAACCATACAGACACAAACACATACACCACACACACCACAT ACACAACAAACATGCCACACACAAATACCACACACACCACATACACACAC CCCCCCATTCACCACACACCACATACACACCATTCACACTACACATACAC TCCACACACACACCACATACGCACCATACACACCACACATATCTCCACAC ACACACCACATACATACACATCCCATCCACACCACACACCCACACACACA CACTCCAAACTCCACACACATACTCCAAACACCACACAAATACACCTACA CACACATCACACACCCACACCACACACACACCACACAAACATGCCACACA CATACCCCACACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01069.hp2 others(13): Show HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01243.hp2 HG01516.hp2 HG02258.hp2 HG02572.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG03486.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0005 a0001c0004t0003 a0001c0004t0005	a0001c0004t0003g0025 a0001c0004t0003g0043 a0001c0004t0003g0044 others(10): Show a0001c0004t0003g0025 a0001c0004t0003g0043 a0001c0004t0003g0044 a0001c0004t0003g0046 a0001c0004t0003g0078 a0001c0004t0003g0080 a0001c0004t0003g0081 a0001c0004t0003g0150 a0001c0004t0003g0165 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0005g0079	16	136	0.1176	833	c.201 others(850): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTT GGAGTGTGTGTGTGTGGGTGTGTGGTGTGGATGGGATGTGTATGTATGTG GTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGCGTATGTGGTGTGTG TGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGAAT GGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTG TTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGT GGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTTG TGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTG TGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATGT GTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGGG GTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGTG TAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTGG GTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTGATGT ATGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGG TGTGTGTGGAGTGTGTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGT GGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGCT others(826): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCG CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCAGGGGGGCT CGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	292	0.0034	833	c.143 others(848): Show c.143-255_143-254insCTCGCGGGGGGCTGGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGG CTCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIEZO1_chr16_88710338_88790220	88713207	C C	CCGAGAGC others(826): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02056.hp1 HG03942.hp2 others(2): Show HG00099.hp1 HG02056.hp1 HG03942.hp2 NA19004.hp1 NA19010.hp1	a0019 a0026 a0071 others(1): Show a0019 a0026 a0071 a0080	a0019c0032 a0026c0058 a0026c0121 others(2): Show a0019c0032 a0026c0058 a0026c0121 a0071c0098 a0080c0114	a0019c0032t0001 a0026c0058t0001 a0026c0121t0001 others(2): Show a0019c0032t0001 a0026c0058t0001 a0026c0121t0001 a0071c0098t0001 a0080c0114t0001	a0019c0032t0001g0236 a0026c0058t0001g0058 a0026c0121t0001g0172 others(2): Show a0019c0032t0001g0236 a0026c0058t0001g0058 a0026c0121t0001g0172 a0071c0098t0001g0242 a0080c0114t0001g0171	5	278	0.0180	833	c.23 others(844): Show c.2397_*2398insTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCT CTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGCTCTCAGGGGGCATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCA GGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCT CTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGAAAGGGGGCTCTCG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2130		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(826): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGTGGAGAG GGGGGAGAGAAGGGGAGGGGGAGACAAGGGGAGAGAAGGGGAGGGGGAGA GGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGAGGGGGAGAGAG GGGGAGAGAAAGGGAGAGGGGGAGAGGGGGAGAGAGGGGAGAGAAGGGGA GAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGA GGGGGAGAGGGGGAGAGGTGGGGAGGGGAGAGGGGGAGAGGTGGAGGAGG GGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGA GGGGGGAGAGGGGAGGAGGGGGAGGAGGGGGAGGGGGAGAGGGGGAGAGG GGGAGGAAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGA GGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAG AGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAG AGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAG AGAGGGCGAGGGGCGAGAGAGAGAGAGGGCGAGAGAGAGGCGGGCGAGAG AGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAG AGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAG AGAGAGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGAG AGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0007 a0007c0008t0001g0007	1	24	0.0417	833	c.371 others(850): Show c.3718+654_3718+655insTTCTCTCCCTCTTTCTCTCCCTCTTTCT CTCCCTCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCT CTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCT CTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTG CCCTCTCTCTCGCCCGCCTCTCTCTCGCCCTCTCTCTCTCTCGCCCCTCG CCCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCC CTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCC CTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTC CTCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTT CCTCCCCCTCTCCCCCTCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCTCT CCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCT CCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCTCCCCACCTCTCCCCCTC TCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCC CTTCTCTCCCCTTCTCTCCCCTCTCTCCCCCTCTCCCCCTCTCCCTTTCT CTCCCCCTCTCTCCCCCTCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTC TCCCCCTCTCCCCCTCCCCTTCTCTCCCCTTGTCTCCCCCTCCCCTTCTC TCCCCCCTCTCCACACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTC TCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(826): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTG ATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGT GGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGG TGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATG GTGATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAAT GATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGG TGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTG ATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGAT GATAATGATAGTGGTGATGATGGTGATGGTGATGATGGTGTTGGTGATGG TGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTG TTGATGGTGATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGT GGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATAGTGG TGATGATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCG GCGATGATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGT GGTGATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0204 a0001c0001t0056g0204	1	70	0.0143	833	c.438 others(852): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTG ATGATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGG TGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATG GTGGTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGT GGTGATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGG TGATGATGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGATG ATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGT GGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGA TGATGGTGTTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGGTGATGGTGGTGGTGATGATGATGGT GGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGA TGATGGTGATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATG GTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGT GATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCA AGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXMP2_chr12_132682587_132709985	132692521	T T	TAGCCAGT others(826): Show TAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTT AGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTACTTAGTGAGCGCCCTGA GCCAGTTAGGTAGTGAGCTCCCTGAGCCAGTTAGGTAGTGAGCTCCCTGA GCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGC CAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGC CAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGC CAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCA GTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCC AGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAG TTAGTGAGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGT GAGCTCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGC GCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGCGCCC TTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTT AGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTGCCA GTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAG TTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTG AGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0037 a0001c0003t0003g0037	2	314	0.0064	833	c.236 others(850): Show c.236+2145_236+2146insAGCCAGTTAGTTAGTGAGCGCCCTTGCC AGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCA GTTACTTAGTGAGCGCCCTGAGCCAGTTAGGTAGTGAGCTCCCTGAGCCA GTTAGGTAGTGAGCTCCCTGAGCCAGTTAGTTAGTGAGCGCCCTTGCCAG TTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGT TAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGT TAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTT AGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTT AGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTA GTGAGCTCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGC TCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCGCCC TTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCC TTAGCCAGTTAGTTAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCC AGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCC AGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAG TTAGTGAGCTCCCTTAGTCAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGC GCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTC CCTTA	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(826): Show AGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGC GAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAG AGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGA CAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGA GAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	39	0.0256	833	c.351 others(852): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCC CTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC CCGCCCTGTCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGT CCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCT GTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(826): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGA AAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAG AAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGA GGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGG AGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGG AGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGG AGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAG GAGGAGGAGAGAAGGGAGGAGGAGAAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20129.hp1 HG01891.hp2 NA20129.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0020 a0002c0017t0020	a0002c0017t0020g0034 a0002c0017t0020g0035 a0002c0017t0020g0034 a0002c0017t0020g0035	2	43	0.0465	833	c.916 others(850): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTTCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCT TTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCC CTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTC CTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCT CTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT TCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCC TCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTC CTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCC TTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTT CTCTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTT CCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(826): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	166	0.0060	833	c.115 others(850): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(826): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0090 a0002c0006t0002g0090	1	193	0.0052	833	c.165 others(850): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC9A3_chr5_465456_529449	487547	C C	CACCGCAC others(826): Show CACCGCACTGACACCCACCACACTGACACCGTGATCCAGACCGCACTGAC ACCCACCACACTGACACCCACCGCACTGACACCCACCGCACTGACACCCA CCACACTGACACCGTGATCCAGACCGCACTGACACCCACCGCACTGACAC CGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCACACTGA CACCCACCGCACTGACACCGTGATCCCGACCGCACTGACACCCACCGCAC TGACACCGTGATCCCGACTGCACTGACACCCACCGCACTGACACCGTGAT CCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACCCA CCACACTGACACCGTGATCCAGACCGCACTGACACCCACCGCACTGACAC CGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGA CACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCGCAC TGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCA CACTGACACCCACCGCACTGACACCGTGATCCCGACCGCACTGACACCCA CCGCACTGACACCGTGATCCCGACTGCACTGACACCCACCGCACTGACAC CGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGA CACCCACCGCACTGACACCGTGATCCAGACCGCACTGACACCCACCGCAC TGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCG CACTGACACCCACCACACTGACACCGTGATCCAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0183 a0002c0002t0003g0183	1	206	0.0049	833	c.675 others(848): Show c.675+768_675+769insCTGGATCACGGTGTCAGTGTGGTGGGTGTC AGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGT GTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGTG GGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGAT CACGGTGTCAGTGCGGTGGGTGTCAGTGCAGTCGGGATCACGGTGTCAGT GCGGTGGGTGTCAGTGCGGTCGGGATCACGGTGTCAGTGCGGTGGGTGTC AGTGTGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGT GTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTG GGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGAT CACGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGT GTGGTGGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGT CTGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGCAGTCGGGATCACGGT GTCAGTGCGGTGGGTGTCAGTGCGGTCGGGATCACGGTGTCAGTGCGGTG GGTGTCAGTGTGGTGGGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGAT CACGGTGTCAGTGCGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGT GTGGTGGGTGTCAGTGCGGTGGGTGTCAGTGCGGTGGGTGTCAGTGTGGT GGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTGGGTGTCAGTGC GGT	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(826): Show TTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	241	0.0041	833	c.12+ others(848): Show c.12+4102_12+4103insGTTTATATAATATATAAAATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(826): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0062 a0001c0001t0029g0062	1	3	0.3333	833	c.597 others(850): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCT TTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTT CCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTC CTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(826): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18944.hp2 NA18945.hp2 others(1): Show HG02040.hp2 NA18944.hp2 NA18945.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0039 a0001c0001t0002g0067 a0001c0001t0002g0070 others(1): Show a0001c0001t0002g0039 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0008g0063	4	6	0.6667	833	c.597 others(850): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTT CCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTC CTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTATG others(826): Show TGTGTATGCACATATACACATATGTGTGTATGCACATATACACATATGTG TGTATGCACATATATACATATATACACATATGTGTACATATGTGTATATA TACATATATATACACATATATATGTATATATACACATATGTGTATATGTA TATATGTATATATACACATATGTGTATATATGTATATATACACATATGTG TATATATGTATATATACATATACACATATATGTATATATACATAGGTGTA TATATGTGTTATATATACACATAGGTGTATATATGTGTTATATATACACA TAGGTGTATATATGTGTTATATATACACATAGGTGTATATATGTGTTATA TATACACATAGGTGTATATGTATATATGTATATATACACATATGTGTATA TGTATATATGTATATACACATATGTGTATATGTATATATGTATATATACA CATATGTGTATATATGTATATATACATATACACATATGTGTATATATAAC ACATATATACATATTCACATATGTGTATATACATATATACATATACACAT ATGTGTATATACATATATACATATACACATATGTGTATATATACATATAT ACATATACACCTATGTGTATATATAACACATATATACACCTATGTGTATA TATAACACATATATACACCTATGTGTATATATAACACATATATACACCTA TGTGTATATATAACACATATATACACCTATGTGTATATATAACACATATA TACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAA CACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0176 a0001c0001t0041g0176	1	220	0.0045	833	c.158 others(852): Show c.1582-2869_1582-2868insGTGTATGCACATATACACATATGTGT GTATGCACATATACACATATGTGTGTATGCACATATATACATATATACAC ATATGTGTACATATGTGTATATATACATATATATACACATATATATGTAT ATATACACATATGTGTATATGTATATATGTATATATACACATATGTGTAT ATATGTATATATACACATATGTGTATATATGTATATATACATATACACAT ATATGTATATATACATAGGTGTATATATGTGTTATATATACACATAGGTG TATATATGTGTTATATATACACATAGGTGTATATATGTGTTATATATACA CATAGGTGTATATATGTGTTATATATACACATAGGTGTATATGTATATAT GTATATATACACATATGTGTATATGTATATATGTATATACACATATGTGT ATATGTATATATGTATATATACACATATGTGTATATATGTATATATACAT ATACACATATGTGTATATATAACACATATATACATATTCACATATGTGTA TATACATATATACATATACACATATGTGTATATACATATATACATATACA CATATGTGTATATATACATATATACATATACACCTATGTGTATATATAAC ACATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTA TATATAACACATATATACACCTATGTGTATATATAACACATATATACACC TATGTGTATATATAACACATATATACACCTATGTGTATATATAACACATA TATACACCTATGTGTATATATAACACATATATACATATACACATATGTGT ATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(826): Show TCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTT CCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTT CTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTT TCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCT TTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTC CTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCC TACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACG TCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCT CCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTC TCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCT CCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCT TCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTC CCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTC CTTCCCTCCCTCCCTTTCCTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	86	0.0116	833	c.215 others(850): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC TCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCT TTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCC TTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCC CTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTC CCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTT CCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTT TCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCC ATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCC CTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCTTCCCTCCCT CCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar

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