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
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(276): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACCGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTATAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0157 a0002c0001t0001g0157	1	370	0.0027	283	c.494 others(298): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAT TTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ANXA2R_chr5_43034371_43045319	43043807	A A	ATATATTA others(276): Show ATATATTATATAATATATAATATATATAATATATAATATAATATATAATA TATATAATATATAATATAATATATAATATATATAATATATAATATAATAT ATAATATATATAATATATTATATAATATATAATATATATAATATATTATA TAATATATAATATATATAATATATTATATAATATATAATATATATAATAT ATTATATAATATATAATATATATAATATATTATATAATATATAATATATA TAATATATTATATAATATATAATATATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	283	c.-37 others(294): Show c.-3762_-3761insATATTATATATATTATATATTATATAATATATTA TATATATTATATATTATATAATATATTATATATATTATATATTATATAAT ATATTATATATATTATATATTATATAATATATTATATATATTATATATTA TATAATATATTATATATATTATATATTATATAATATATTATATATATTAT ATATTATATTATATATTATATATATTATATATTATATTATATATTATATA TATTATATATTATATTATATATTATATATATTATATATTATATAATATA	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3489		chr5	TogoVar
ANXA2R_chr5_43034371_43045319	43043918	A A	ATATAATA others(276): Show ATATAATATATAATATATATAATATATTATATAATATATAATATATATAA TATATTATATAATATATAATATATATAATATATTATATAATATATAATAT ATATAATATATTATATAATATATAATATATATAATATATTATATAATATA TAATATATATAATATATTATATAATATATAATATATATAATATATTATAT AATATATAATATATATAATATATTATATAATATATAATATATATAATATA TTATATAATATATAATATATATAATATATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	283	c.-38 others(294): Show c.-3873_-3872insATATAATATATTATATATATTATATATTATATAA TATATTATATATATTATATATTATATAATATATTATATATATTATATATT ATATAATATATTATATATATTATATATTATATAATATATTATATATATTA TATATTATATAATATATTATATATATTATATATTATATAATATATTATAT ATATTATATATTATATAATATATTATATATATTATATATTATATAATATA TTATATATATTATATATTATATAATATATTATATATATTATATATTATA	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3600		chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144687049	C C	CCCCGTGA others(276): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACTCA TTTACAGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTAGCGGCGAGCACTTCCCACCCCCGTG ACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAG CGAGCACTTCTCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	246	0.0041	283	c.-14 others(294): Show c.-1446_-1445insTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCG CTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGT CACGGGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAA TGAGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1204		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687138	G G	GGCGGTGA others(276): Show GGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTC TCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACC ACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGC GGTGAGCACTTCCCACCCCCGTGACCACACACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	246	0.0041	283	c.-15 others(294): Show c.-1535_-1534insTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACC GCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCA CGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGC TCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGT GGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGA GAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1293		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687215	C C	CGAGCACT others(276): Show CGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACC CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACC ACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTG AGCACTTCCCACCCCGTGACCACACATTTACAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	246	0.0041	283	c.-16 others(294): Show c.-1612_-1611insACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGT GGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGG GAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCT AGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1370		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687355	G G	GGTGAGCA others(276): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTC ATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01952.hp1 HG01168.hp2 HG01952.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0001 a0001c0010t0001 a0001c0005t0001 a0001c0010t0001	a0001c0005t0001g0010 a0001c0010t0001g0009 a0001c0005t0001g0010 a0001c0010t0001g0009	2	246	0.0081	283	c.-17 others(294): Show c.-1752_-1751insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAAT GAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1510		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687637	G G	GGTGAGCA others(276): Show GGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCA CCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGC GAGCACTTCCCACCCCCGTGACCACACACCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	246	0.0041	283	c.-20 others(294): Show c.-2034_-2033insTGCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGG TGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1792		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCCGT others(276): Show ACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	246	0.0041	283	c.-20 others(294): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTC ACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATG TGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCCGT others(276): Show ACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	246	0.0041	283	c.-20 others(294): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATG TGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687708	G G	GGTGAGCA others(276): Show GGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCCGTGACCACACACTAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	246	0.0041	283	c.-21 others(294): Show c.-2105_-2104insTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGT GTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1863		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824808	T T	TCCCCCGC others(276): Show TCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CTCGCACCCCACCTGTCCCCCCGCACCCCACCTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG03540.hp1 HG02647.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0020 a0001c0026 a0001c0159 a0001c0020 a0001c0026 a0001c0159	a0001c0020t0016 a0001c0026t0007 a0001c0159t0006 a0001c0020t0016 a0001c0026t0007 a0001c0159t0006	a0001c0020t0016g0092 a0001c0026t0007g0091 a0001c0159t0006g0093 a0001c0020t0016g0092 a0001c0026t0007g0091 a0001c0159t0006g0093	3	363	0.0083	283	c.-48 others(298): Show c.-48+695_-48+696insCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCAC CTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(276): Show ACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCCACCCCGC CAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCCG CCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGG GCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGC CCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCGCCCCC CGCCAGGCCCCGCCCCGCCCCGCCAGGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02895.hp1 HG01081.hp2 HG02895.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0095 a0003c0004t0003g0096	2	368	0.0054	283	c.-28 others(292): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCC GCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCC GGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCT CCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCC CGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAAC CCGCCCCGCCCCCCGCCAGGCCCCGCCCCGCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(276): Show CTTTCTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0193 a0003c0003t0012g0193	1	226	0.0044	283	c.108 others(300): Show c.108+5681_108+5682insTTTCTTTCCTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653993	T T	TTGTATAT others(276): Show TTGTATATACGTATATACATATATAAATATATGTTGTATATACGTATATA CTATATATGTTGTATATACGTATATACAACATAAATATATGTTGTATATA CGTATATACAACATAAATATATGTTGTATATACGTATATACAACATAAAT ATATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTA TATACATATATAAATATATGTTGTATATACGTATATACATATATAAATAT ATGTTGTATATACGTATATACATATATAAATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03130.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182	3	236	0.0127	283	c.676 others(300): Show c.676-4738_676-4737insTATATTTATATATGTATATACGTATATA CAACATATATTTATATATGTATATACGTATATACAACATATATTTATATA TGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATACA ACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTA TATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACAT ATATAGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(276): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCC CCACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0043 a0001c0014t0043	a0001c0014t0043g0056 a0001c0014t0043g0056	1	254	0.0039	283	c.39+ others(300): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCC CCCACCCCCACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTC CCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(276): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCACCT CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCCCCACCTCCCCCACC CCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCAC CTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCC CCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0199 a0001c0002t0070g0199	1	254	0.0039	283	c.39+ others(300): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCACCTCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCCCCACCTC CCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCAC CCCCCACCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCC CCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTC CCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112845332	T T	TCGGTACT others(276): Show TCGGTACTAACCAGTCCAGTTGCCAGCACTAGCGGTACTATTCAGTCCAG TTGCCAGCACTAGCGGTACTATTCAGTCCAGTTGCCAGGCACTAGTGGTT CTAACCAGTCCAGTTGCCAGCACTAGCGGTACTATTCAGTCCAGTTGCCA GGCACTAGTGGTTCTAACCAGTCCAGTTGCCGGCACTAGCGGTACTAACC AGTCCAGTTGCTGGCACTAGCGGTACTAACCAGTCCAGTTGCCAGGCACT AGTGGTTCTAACCAGTCCAGTTACCAGGCACTAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp1 HG03579.hp1 HG02572.hp2 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0019 a0001c0043 a0001c0047 a0001c0019 a0001c0043 a0001c0047	a0001c0019t0008 a0001c0043t0044 a0001c0047t0016 a0001c0019t0008 a0001c0043t0044 a0001c0047t0016	a0001c0019t0008g0051 a0001c0043t0044g0148 a0001c0047t0016g0062 a0001c0019t0008g0051 a0001c0043t0044g0148 a0001c0047t0016g0062	3	254	0.0118	283	c.180 others(302): Show c.1809+3005_1809+3287dupGCCAGCACTAGCGGTACTATTCAGTC CAGTTGCCAGGCACTAGTGGTTCTAACCAGTCCAGTTGCCAGCACTAGCG GTACTATTCAGTCCAGTTGCCAGGCACTAGTGGTTCTAACCAGTCCAGTT GCCGGCACTAGCGGTACTAACCAGTCCAGTTGCTGGCACTAGCGGTACTA ACCAGTCCAGTTGCCAGGCACTAGTGGTTCTAACCAGTCCAGTTACCAGG CACTAGCGGTACTAACCAGTCCAGTTGCCAGCACTAGCGGTACTATTCAG TCCAGTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(276): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG GCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	283	c.36 others(294): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(276): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGG CCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	391	0.0026	283	c.36 others(294): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83023224	G G	GCCCACCT others(276): Show GCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCCGCC CCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCA CCTGCACCAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCACCT GCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCA CCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCACCA GCGTGAACTCACGTTAGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	266	0.0038	283	c.298 others(300): Show c.298-8706_298-8705insGCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCA CGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGC AGGTGGGGCGGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAG GTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023271	C C	CCCCACCT others(276): Show CCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCCGGCCCACCT GCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCA CCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACCTGCACCA GCGTGAACTCACGTTAGCTTAGCACTGTCCCCGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	266	0.0038	283	c.298 others(300): Show c.298-8753_298-8752insCCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCA CGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGC TGGTGCAGGTGGGCCGGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTG GTGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGCTGGTG CAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAG GTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023271	C C	CCCCACCT others(276): Show CCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCCGCCCCACCTGCA CCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACCTGCACCA GCGTGAACTCACGTTAGCTTAGCACTGTCCCCGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18965.hp1 HG03516.hp2 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0039 a0002c0009t0013 a0001c0001t0039 a0002c0009t0013	a0001c0001t0039g0260 a0002c0009t0013g0066 a0001c0001t0039g0260 a0002c0009t0013g0066	2	266	0.0075	283	c.298 others(300): Show c.298-8753_298-8752insCCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTAACGTGAGTTCA CGCTGGTGCAGGTGGGGCGGGGGACAGTGCTAAGCTCATGTGAGTTCACG CTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTG GTGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGCTGGTG CAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAG GTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83023271	C C	CCCCACCT others(276): Show CCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACGTTAGCTTAGGACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTGCAC CAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCCGCCCCACCTGCACCA GCGTGAACTCACGTTAGCTTAGCACTGTCCCCGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0254 a0001c0007t0005g0254	1	266	0.0038	283	c.298 others(300): Show c.298-8753_298-8752insCCGGGGACAGTGCTAAGCTAACGTGAGT TCACGCTGGTGCAGGTGGGGCGGGGGACAGTGCTAAGCTAACGTGAGTTC ACGCTGGTGCAGGTGGGGCGGGGACAGTGCTAAGCTCATGTGAGTTCACG CTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTG GTGCAGGTGGGCCGGGGACAGTCCTAAGCTAACGTGAGTTCACGCTGGTG CAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAG GTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(276): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGA GAGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGAGAGGGGGAGGGGAGGGGGAGGGGAAGA GGGGGGAGGGGAGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGAGGGGA GGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGG GGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	298	0.0034	283	c.51+ others(296): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCC CCTCTTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCATCCCCCTCCCCCC TCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCCTCTCCCTC C	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(276): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATTATATATATATTTATAT ATATATATATTATATATATTTATATATATATATATTATATATATTTATAT ATATATATTATATATATATTTATATATATATATATTATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp2 NA18963.hp1 NA18963.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0002 a0005c0005t0001 a0004c0004t0002 a0005c0005t0001	a0004c0004t0002g0203 a0005c0005t0001g0069 a0004c0004t0002g0203 a0005c0005t0001g0069	2	216	0.0093	283	c.-2- others(300): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATAAATATATATAATATATATATATATAAATATATATAATAT ATATATATATAAATATATATATAATATATATAAATATATATATAATATAT ATATATAAAAATATATATATTATATATATATATAAATATATATATAATAT ATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(276): Show AGTGATGGTGGTAGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATG GTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGT GGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGG TGCTGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTAGTGATAATGGTGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	262	0.0038	283	c.487 others(298): Show c.487+706_487+707insCACCACCATTATCACTACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACAAAGTACCATGACCACC AGCACCATCACTACCACCACCACCACCACCATCACCACCACCACCATTAC CACCACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACCA CCACCATCACTACCACCACCACCACCACCACCACCACCATTACCACCACC ATCACTACCACCACCACCATCACCACCAGTACCATCACCACTACCACCAT CAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C20orf96_chr20_265863_295750	279062	G G	GGGAGGGA others(276): Show GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGACG GAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGA CGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACG GAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGC GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGTGGG AGGGAGGGAGGGATGGAGGGAGGGCGGGCGGGAC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0381 a0001c0003t0001g0381	1	410	0.0024	283	c.465 others(298): Show c.465+109_465+110insGTCCCGCCCGCCCTCCCTCCATCCCTCCCT CCCTCCCACCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCC TCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGC CCTCCGTCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCC TCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404412	T T	TGAGGGGG others(276): Show TGAGGGGGGACGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGC CCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGG GGACGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACAGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACG GGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGT GTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0109 a0001c0001t0129g0109	1	322	0.0031	283	c.26 others(294): Show c.2683_*2684insTCACACCCCTCAGGGCAGGACCCGTCCCCCCCAC ACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCC CGTCCCCCCCTCACACCCCTCAGGGCAGGACCCGTCCCCCCCACACCCCT CAGGGCAGGACCCTGTCCCCCCCTCACACCCCTCAGGGCAGGACCCGTCC CCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCCCTCAGG GCAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGACCCGTCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1032		chr19	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(276): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0042 a0002c0003t0001g0042	1	328	0.0031	283	c.100 others(302): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(276): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGGTCCCG GGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCT GTCGGTGAGGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCT GTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGG TCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGG TCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0039 a0039	a0039c0026 a0039c0026	a0039c0026t0002 a0039c0026t0002	a0039c0026t0002g0179 a0039c0026t0002g0179	1	410	0.0024	283	c.206 others(300): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGGTCCCGGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGA GGGCCCCTGTCGGTGAGGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAG GGCCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAG GGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAG GGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGG GTCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(276): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCACCGCAGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18986.hp1 NA18995.hp2 others(1): Show NA18939.hp1 NA18986.hp1 NA18995.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0002g0052 a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0002g0052	4	454	0.0088	283	c.626 others(298): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCTGCGGTG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATAGAGATT GGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(276): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00621.hp2 others(37): Show HG00423.hp2 HG00609.hp2 HG00621.hp2 HG01258.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02647.hp1 HG02735.hp2 HG03098.hp1 HG03490.hp1 HG03710.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18989.hp2 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19058.hp2 NA19070.hp1 NA19075.hp1 NA19080.hp1 NA19091.hp1	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0001 a0006c0008 a0013c0016 a0001c0001 a0006c0008 a0013c0016	a0001c0001t0001 a0006c0008t0001 a0013c0016t0001 a0001c0001t0001 a0006c0008t0001 a0013c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0056 a0006c0008t0001g0032 a0013c0016t0001g0053	40	454	0.0881	283	c.626 others(298): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATAGAGATT GGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCN6_chr6_112049104_112074686	112068826	C C	CTGGTCCT others(276): Show CTGGTCCTGCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0082 a0002c0008t0001g0082	1	430	0.0023	283	c.783 others(298): Show c.783+442_783+443insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAATGGTCCTGCTT CTT	CCN6	ENSG00000112761.22	transcript	ENST00000368666.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(276): Show ATAGAATATATATATAGAATATATATATATAGAATATATATATAGAATAT ATATATAGAATATATATATATAGAATATATATATAGAATATATATATATA GAATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	388	0.0026	283	c.487 others(300): Show c.487+1101_487+1102insTAGAATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATAGAATATATATATATAGAATATA TATATAGAATATATATATATAGAATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24882027	G G	GATACATC others(276): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	440	0.0023	283	c.11 others(294): Show c.1149_*1150insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		251		chr13	TogoVar
CFAP74_chr1_1916957_2008786	1982140	C C	CAGACAGA others(276): Show CAGACAGACACGGGGACACACAGGACACCCAGCCACGGACAGACACGGGG ACACACAGGACACCCAGCCGTGGTCACACGCGGGGACACGCAGGACACCC AGCCGCGGTCACACGCGGGGGCACGCAGAACACCCAACCACGGACAGACA CGGGGGGCACGCAGGACACCCAGCCGCGGACAGACACGGGGGGCACACAG GACACCCAGCCGTGGACAGACACGGGGGGCACACAGGACACCCAGCCGTG GACAGACACGGGGACACGCAGGACACCCAGCCGT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18973.hp1 NA19005.hp2 NA18951.hp2 NA18973.hp1 NA19005.hp2	a0003 a0005 a0061 a0003 a0005 a0061	a0003c0004 a0005c0011 a0061c0049 a0003c0004 a0005c0011 a0061c0049	a0003c0004t0002 a0005c0011t0001 a0061c0049t0002 a0003c0004t0002 a0005c0011t0001 a0061c0049t0002	a0003c0004t0002g0260 a0005c0011t0001g0155 a0061c0049t0002g0266 a0003c0004t0002g0260 a0005c0011t0001g0155 a0061c0049t0002g0266	3	278	0.0108	283	c.500 others(300): Show c.500+3245_500+3246insACGGCTGGGTGTCCTGCGTGTCCCCGTG TCTGTCCACGGCTGGGTGTCCTGTGTGCCCCCCGTGTCTGTCCACGGCTG GGTGTCCTGTGTGCCCCCCGTGTCTGTCCGCGGCTGGGTGTCCTGCGTGC CCCCCGTGTCTGTCCGTGGTTGGGTGTTCTGCGTGCCCCCGCGTGTGACC GCGGCTGGGTGTCCTGCGTGTCCCCGCGTGTGACCACGGCTGGGTGTCCT GTGTGTCCCCGTGTCTGTCCGTGGCTGGGTGTCCTGTGTGTCCCCGTGTC TGTCT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1982175	C C	CGGACAGA others(276): Show CGGACAGACACGGGGACACACAGGACACCCAGCCGTGGTCACACGCGGGG ACACGCAGGACACCCAGCCGCGGTCACACGCGGGGGCACGCAGAACACCC AACCACGGACAGACACGGGGGGCACGCAGGACACCCAGCCGCGGACAGAC ACGGGGGGCACACAGGACACCCAGCCGTGGACAGACACGGGGGGCACACA GGACACCCAGCCGTGGACAGACACGGGGACACGCAGGACACCCAGCCGTG GACAGACACGGTGACACACAGGACACCCAGCCAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01175.hp2 others(16): Show HG00673.hp1 HG00738.hp1 HG01175.hp2 HG02145.hp1 HG02155.hp1 HG02735.hp1 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03704.hp2 HG03710.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18944.hp1 NA18947.hp2 NA18981.hp2 NA19007.hp2 NA19085.hp2	a0002 a0003 a0005 others(5): Show a0002 a0003 a0005 a0007 a0008 a0021 a0024 a0035	a0002c0006 a0003c0004 a0005c0011 others(5): Show a0002c0006 a0003c0004 a0005c0011 a0007c0079 a0008c0016 a0021c0028 a0024c0050 a0035c0064	a0002c0006t0001 a0003c0004t0002 a0005c0011t0001 others(5): Show a0002c0006t0001 a0003c0004t0002 a0005c0011t0001 a0007c0079t0001 a0008c0016t0001 a0021c0028t0002 a0024c0050t0009 a0035c0064t0001	a0002c0006t0001g0057 a0002c0006t0001g0080 a0002c0006t0001g0094 others(16): Show a0002c0006t0001g0057 a0002c0006t0001g0080 a0002c0006t0001g0094 a0002c0006t0001g0188 a0002c0006t0001g0243 a0003c0004t0002g0079 a0003c0004t0002g0146 a0003c0004t0002g0245 a0003c0004t0002g0258 a0005c0011t0001g0006 a0005c0011t0001g0233 a0007c0079t0001g0242 a0008c0016t0001g0111 a0008c0016t0001g0122 a0008c0016t0001g0125 a0021c0028t0002g0056 a0021c0028t0002g0249 a0024c0050t0009g0271 a0035c0064t0001g0021	19	278	0.0684	283	c.500 others(300): Show c.500+3210_500+3211insATGGCTGGGTGTCCTGTGTGTCACCGTG TCTGTCCACGGCTGGGTGTCCTGCGTGTCCCCGTGTCTGTCCACGGCTGG GTGTCCTGTGTGCCCCCCGTGTCTGTCCACGGCTGGGTGTCCTGTGTGCC CCCCGTGTCTGTCCGCGGCTGGGTGTCCTGCGTGCCCCCCGTGTCTGTCC GTGGTTGGGTGTTCTGCGTGCCCCCGCGTGTGACCGCGGCTGGGTGTCCT GCGTGTCCCCGCGTGTGACCACGGCTGGGTGTCCTGTGTGTCCCCGTGTC TGTCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1982175	C C	CGGACAGA others(276): Show CGGACAGACACGGGGACACACAGGACACCCAGCCGTGGTCACACGCGGGG ACACGCAGGACACCCAGCCGCGGTCACACGCGGGGGCACGCAGAACACCC AACCACGGACAGACACGGGGGGCACGCAGGACACCCAGCCGCGGACAGAC ACGGGGGGCACACAGGACACCCAGCCGTGGACAGACACGGGGGGCACACA GGACACCCAGCCGTGGACAGACACGGGGACACGCAGGACACCCAGCCGTG GACAGACACGGTGACACACAGGACACCCAGCCGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0058 a0003c0004t0002g0058	1	278	0.0036	283	c.500 others(300): Show c.500+3210_500+3211insACGGCTGGGTGTCCTGTGTGTCACCGTG TCTGTCCACGGCTGGGTGTCCTGCGTGTCCCCGTGTCTGTCCACGGCTGG GTGTCCTGTGTGCCCCCCGTGTCTGTCCACGGCTGGGTGTCCTGTGTGCC CCCCGTGTCTGTCCGCGGCTGGGTGTCCTGCGTGCCCCCCGTGTCTGTCC GTGGTTGGGTGTTCTGCGTGCCCCCGCGTGTGACCGCGGCTGGGTGTCCT GCGTGTCCCCGCGTGTGACCACGGCTGGGTGTCCTGTGTGTCCCCGTGTC TGTCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1982175	C C	CGGACAGA others(276): Show CGGACAGACACGGGGACACACAGGACACCCAGCCGTGGTCACATGCGGGG ACACGCAGGACACCCAGCCGCGGTCACACGCGGGGGCACGCAGAACACCC AACCACGGACAGACACGGGGGGCACGCAGGACACCCAGCCGCGGACAGAC ACGGGGGGCACACAGGACACCCAGCCGTGGACAGACACGGGGGGCACACA GGACACCCAGCCGTGGACAGACACGGGGACACGCAGGACACCCAGCCGTG GACAGACACGGTGACACACAGGACACCCAGCCAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0227 a0003c0004t0002g0227	1	278	0.0036	283	c.500 others(300): Show c.500+3210_500+3211insATGGCTGGGTGTCCTGTGTGTCACCGTG TCTGTCCACGGCTGGGTGTCCTGCGTGTCCCCGTGTCTGTCCACGGCTGG GTGTCCTGTGTGCCCCCCGTGTCTGTCCACGGCTGGGTGTCCTGTGTGCC CCCCGTGTCTGTCCGCGGCTGGGTGTCCTGCGTGCCCCCCGTGTCTGTCC GTGGTTGGGTGTTCTGCGTGCCCCCGCGTGTGACCGCGGCTGGGTGTCCT GCGTGTCCCCGCATGTGACCACGGCTGGGTGTCCTGTGTGTCCCCGTGTC TGTCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(276): Show CCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTC TCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	350	0.0029	283	c.510 others(302): Show c.510+23996_510+23997insCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(276): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCAGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	386	0.0026	283	c.-27 others(304): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCAGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATT TTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSTPP1_chr11_46931761_47167247	47036037	A A	AAAAGTGG others(276): Show AAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCCA TGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTATA TATATATTATATATGTTATTTTATATATATATTATATATATGATATATGA TATATTATAATATATTATATATGATATATTATATTATATATTATATCATA TATTATATATTATATTATATATAATATTATATATTATATTATATATAATA TTATATATTATATTATATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	224	0.0045	283	c.150 others(302): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATATGATATATGATATATTATAATATATTATATATGATAT ATTATATTATATATTATATCATATATTATATATTATATTATATATAATAT TATATATTATATTATATATAATATTATATATTATATTATATATAATATAT ATTATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8			chr11	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GCTGCTGC others(276): Show GCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTAC TGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACC ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	396	0.0025	283	c.513 others(298): Show c.513-923_513-922insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACC ATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DDX51_chr12_132131594_132149319	132134967	T T	TCCCGAGT others(276): Show TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACC TCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCG CTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCCCGGTGCCCGCTCCTCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	334	0.0030	283	c.43 others(294): Show c.4304_*4305insGAGGTGGGAGGAGCGGGCACCGGGGGCACACTCG GGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAG CGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCAC ACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGA GGTAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCG TGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1626		chr12	TogoVar
DGKB_chr7_14140049_14907751	14211425	T T	TATTTACT others(276): Show TATTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTTA CTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCA TGTTTTGTGATATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0068 a0001c0002t0040g0068	1	148	0.0068	283	c.212 others(304): Show c.2123-33275_2123-33274insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAA AACATGAGAGTAAAATCACAAAACACGAGAGTAAATATCACAAAACATGA GAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAA TATCACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACA AAACATGAGAGTAAAATCACAAAACACGAGAGTAAATATCACAAAACATG AGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233397203	T T	TGCGGGGG others(276): Show TGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGC GGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGG GGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGG GGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGC CAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAG AGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	336	0.0030	283	c.348 others(300): Show c.348+6721_348+6722insCGGGGGGGGCCAGAGCGAGAGGACACCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAG GGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGG ACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGG GTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397503	G G	GAGGACAC others(276): Show GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGA GGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCC AGAGGGGACCAGGGTGGCTGGGGGGGGGGCCAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	336	0.0030	283	c.348 others(300): Show c.348+7020_348+7021insAGGACACCAGAGGGGACCAGGGTGGCTG CGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGG GGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCG GGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGG GGGGGGTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAG AGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGG CCAGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DIP2C_chr10_269201_694668	516833	A A	AGGGGGGA others(276): Show AGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGG GACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGGACAC GGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTA GGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGG GGGGGACACGGGGTAGGGTGGGGGGGACACGGGGTAGGGTGGGGGGGACA GGGGGTAGGGTGGGGGGGGACGGGGTAGGGTGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	88	0.0114	283	c.86- others(300): Show c.86-30304_86-30303insCCCACCCTACCCCGTCCCCCCCCACCCT ACCCCCTGTCCCCCCCACCCTACCCCGTGTCCCCCCCACCCTACCCCGTG TCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCC CCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCC TACCCCGTGTCCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCC CCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTC CCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAATAT others(276): Show AAAAATATATATATATATATATACACATACATATACATATATACACATAC ATATACATATATACACATACATATACATATATACACATACATATATATAT ACATATATATACATATATATATACGTATATATATATACGTGTATATATAT ACACGTATATATATATACGTGTGTATATATACACATATATATATACACAT ATATATATACACATATATATACACATATATATATATACACATATATATAT ATACACATATATATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02970.hp1 HG06807.hp2 HG02647.hp2 HG02970.hp1 HG06807.hp2	a0022 a0061 a0022 a0061	a0022c0055 a0022c0067 a0061c0033 a0022c0055 a0022c0067 a0061c0033	a0022c0055t0001 a0022c0067t0001 a0061c0033t0001 a0022c0055t0001 a0022c0067t0001 a0061c0033t0001	a0022c0055t0001g0064 a0022c0067t0001g0112 a0061c0033t0001g0047 a0022c0055t0001g0064 a0022c0067t0001g0112 a0061c0033t0001g0047	3	266	0.0113	283	c.730 others(302): Show c.7305+1447_7305+1448insATATATATATGTATATATATATATAT ATGTGTATATATATATATGTGTATATATATATATGTGTATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATACACACGTATATATAT ATACGTGTATATATATACACGTATATATATATACGTATATATATATGTAT ATATATGTATATATATATGTATGTGTATATATGTATATGTATGTGTATAT ATGTATATGTATGTGTATATATGTATATGTATGTGTATATATATATATAT ATATTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

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