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
C2CD4C_chr19_400445_414147	410796	C C	CCGGATCC others(1041): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGT CACTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCACTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCC CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGATCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTGC TGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCTCGGATCCTGGGGGTCTGTCC ACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGAGCCGGG AGGAGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGG GGGTCTGTCCACTGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACC GTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGC ACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCTGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGT CACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	265	0.0038	1048	c.-18 others(1059): Show c.-1832_-1831insTGCCCAGCAGAGACGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCAGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCAGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGACCCTCCTCCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGG CCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGAGCCCAGCAGGGGCG GTGGACAGACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCC CAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCC CAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGT GGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCA GGATCCGTGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGTGACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGTGACGGTGG ACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGGGACGGTGGACAGACCCCCAGGATCCGGGCCCAGC AGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGATCCCCAGGAT CCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1650		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(1041): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGGCACAGCAGAAAGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGC AAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGC AGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	235	0.0043	1048	c.-22 others(1059): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCT GTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT CGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGC TGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(1041): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCAT GCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGC ATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0008 a0008c0005t0008	a0008c0005t0008g0257 a0008c0005t0008g0257	1	194	0.0052	1048	c.300 others(1065): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCAT AGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATG CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTC GGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133764	T T	TCTCTCTC others(1041): Show TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	218	0.0046	1048	c.-42 others(1059): Show c.-4280_-4279insCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCT CTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTC CACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCACC TCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGT CCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCC TCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3997		chr19	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(1041): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACATACT ATGTATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	348	0.0029	1048	c.51+ others(1063): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTAGTATA CATACTACATGATATACATAGTATGTAGTATACATACTACATGATATACA TAGTATGTAGTATACATACTACATGATATACATAGTATGTAGTATACATA CTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(1041): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01167.hp2 others(5): Show HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG03239.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0001g0062	8	355	0.0225	1048	c.51+ others(1063): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTAGTATACATACTACATGATATACA TAGTATGTAGTATACATACTACATGATATACATAGTATGTAGTATACATA CTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(1041): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03654.hp1 HG02717.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0253 a0001c0001t0001g0216 a0001c0001t0001g0253	2	349	0.0057	1048	c.51+ others(1063): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTAGTATACATACTACATGATATACATAGTATGTAGTATACATA CTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
EXD3_chr9_137301896_137428162	137355592	G G	GGAGGAAG others(1041): Show GGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAA GGGAGGATGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAG GAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGATG GAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGAGGAAGG AGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGA GGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAG GAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGG AAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGG AAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGG ATGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGAAGAAGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAG GAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGACGGAGGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0014 a0005c0009t0001g0014	1	77	0.0130	1048	c.757 others(1063): Show c.757+675_757+676insTTCCTCCGTCCTCCATCCTCCCTTCCTCCT TCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCT TCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCTTCTT CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCC TCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCT CCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTC CCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCC TTCCTCCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCC ATCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCT TCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCATCCTCCTTCCTCCTT CCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTT CCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCCT TTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTT CCTCCTTCCTCATCCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTT CCTCCTTCCTCCTTCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
GTPBP6_chrX_299759_323796	315691	C C	CGCAGACA others(1041): Show CGCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGG ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA AACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA CACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGAC AGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACACAA ACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACA CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC ACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAA CACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA CACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGAC AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA CACATCCCGGCAGGGACACAAACACATGCACACGCAGACACACACACACA CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACA CAAACACATACACACGCAGACACACACACACACACAAACACACAGTAAAT ACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACAC ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0003 a0002c0029t0003	a0002c0029t0003g0068 a0002c0029t0003g0068	1	143	0.0070	1048	c.488 others(1063): Show c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGCATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT GTGTGTGTGTGTGTCTGC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400231	C C	CCCTCCCC others(1041): Show CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTC CTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGCCCCCTGCCCCCC TCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCC TCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0186 a0001c0001t0061g0186	1	252	0.0040	1048	c.66 others(1059): Show c.6602_*6603insAGGGGAGGGGGGGCAGGAGGGGAGGGGGCAGGAG GGCATGAGGGGAGGAGGGGAGGGGGCAGGAGGGGAGGGGGTAGGAAGGGA GGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGAGGGGAGGGGGGAGGGGT ACAGGAGGGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGCAGGAGGGCA GGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGAAGGT GGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGCAGGAGGG GAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGA GGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAG GGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCA GGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGG GGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAG GAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGG GGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCA GGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGG GGGCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGC AGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGG GAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGG GGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGC AGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAG GGCAGGAGGGGAGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3243		chr2	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(1041): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGGCACAGCAGAAAGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGC AAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGC AGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	234	0.0043	1048	c.-42 others(1059): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCT GTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT CGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGC TGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(1041): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGG GAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGGAAGGGAGGGAGGGGAGGGGGGGAGGGAGGGGAGGGGAGTGGAGGG GGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGG GAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGA GGGGAGGGGGAGGGGGAGGGAAGGAGGGAGGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	213	0.0047	1048	c.250 others(1063): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCCTCCCTCCTTC CCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCA TCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCTCCCTC CCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCCCT CCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTC CCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCATCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCATCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCCCTCCCCCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCT TCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTT TCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCT CCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCC CCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(1041): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGG GGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTA GGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAG GGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGG CGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAG GATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAG GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGG CGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAG GATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAGTGGAG GGGGCTGGGAAGGCATCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAG GCGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0018 a0018	a0018c0051 a0018c0051	a0018c0051t0001 a0018c0051t0001	a0018c0051t0001g0042 a0018c0051t0001g0042	1	130	0.0077	1048	c.148 others(1067): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTC CACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTA GCGCTGGATGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACACC TTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCC TCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTA GCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCC TTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCC TCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTA GTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCC TTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCT CCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTA GCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCT TCCAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGT GCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA TCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCC CAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1041): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGCATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGC ATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATAT ACATATATATGCATATGCATATGTGTGTATATATACATATATATGCATAT GCATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATAT ATACATATATATGCATATGCATATGTGTGTATATATACATATATATGCAT ATGCATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTAT ATATACATATATATGCATATGCATATGTGTGTATATATACATATATATGC ATATGCATATGTGTGTATATATACATATACATGCATATGCATATGTGTGT ATATATACATATACATGCATATGCATATGTGTGTATATATACATATACAT GCATATGCATATGTGTGTATATATACATATACATGTATATGCATATGTGT GTATATATACATATACATGTATATGCATATGTGTGTATATATACATATAC ATGTATATGCATATGTGTGTATATATACATATACATGTATATGCATGTGT GTATATATACATATACATGTATATGCATATGTGTGTATATATACATATAC ATGTATATGCATATGTGTGTATATATACATATACATGTATATGCATATGT GTGTATATATACACATATACATGTATATGCATATGTGTGTATATATACAC ATATACATGTATATGCATATGTGTGTATACATATACATATATATGCATAT ATGTGTATACATATACATATATATGCATATATGTGTATATATACACATAT ATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	135	0.0074	1048	c.31 others(1059): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGCATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACA TATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCA TATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATA CATATATATGCATATGCATATGTGTGTATATATACATATATATGCATATG CATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATA TACATATATATGCATATGCATATGTGTGTATATATACATATATATGCATA TGCATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATA TATACATATATATGCATATGCATATGTGTGTATATATACATATACATGCA TATGCATATGTGTGTATATATACATATACATGCATATGCATATGTGTGTA TATATACATATACATGCATATGCATATGTGTGTATATATACATATACATG TATATGCATATGTGTGTATATATACATATACATGTATATGCATATGTGTG TATATATACATATACATGTATATGCATATGTGTGTATATATACATATACA TGTATATGCATGTGTGTATATATACATATACATGTATATGCATATGTGTG TATATATACATATACATGTATATGCATATGTGTGTATATATACATATACA TGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATATG TGTGTATATATACACATATACATGTATATGCATATGTGTGTATACATATA CATATATATGCATATATGTGTATACATATACATATATATGCATATATGTG TATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATA CACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PCNT_chr21_46319156_46450769	46383317	C C	CGTTCAGT others(1041): Show CGTTCAGTGGCAGAAGCGCATTCACGGTGTGCATTCAGTGGCGGAAGCGC ATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGC ATTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGC GCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGT ATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAA GTGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCATGGTGTG CGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCGGAAG CGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGT TGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACG GAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACAGT GTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGCTGTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGC GGCGGAAGCCCATTCACAGTGCTGCGCATTCAGCAGCGGAAGCGCATTCA CAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCATTCA GTGGTGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATT CACAGTGTTGTATATTCAGTGGCGGAAGCACATTCACCATGTTGTATATT CAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCA TTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	321	0.0031	1048	c.331 others(1067): Show c.3312+1493_3312+1494insGCATTCACGGTGTGCATTCAGTGGCG GAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGT GTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGG CAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACC ATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGT GATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCA TGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCAC AGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAG CAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTC ACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTC AGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCAT TCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATAT TCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGC ATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTCAGCAGCGGAAGC GCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGT GCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCACATTCACCATGTT GTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGG AAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTG TTGTGTGTTCAGTGGCAGAAGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383427	A A	AGAAGCGC others(1041): Show AGAAGCGCGTTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAG TGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG GCGGAAGTGCATTCACAGTGTTGTATATTCAGTGATGGAAGTGCATTCAC AGTGCTGTGCATTCAGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGG CAGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGT GATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCA CGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCA GTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATT CACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCA TTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCC CATTCACAGTGCTGCGCATTCAGCGGCGGAAGCGCATTCACAGTGTTGTA TATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAG CCCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGGCGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGA AGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGC TGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCA GAAGCGCATTCACGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTT GTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG02145.hp1 others(1): Show HG01099.hp2 HG01261.hp2 HG02145.hp1 NA20752.hp2	a0009 a0037 a0009 a0037	a0009c0011 a0037c0088 a0009c0011 a0037c0088	a0009c0011t0001 a0037c0088t0001 a0009c0011t0001 a0037c0088t0001	a0009c0011t0001g0077 a0009c0011t0001g0079 a0009c0011t0001g0080 others(1): Show a0009c0011t0001g0077 a0009c0011t0001g0079 a0009c0011t0001g0080 a0037c0088t0001g0074	4	329	0.0122	1048	c.331 others(1067): Show c.3312+1594_3312+1595insGTTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGGCGGAAGTGCATTCACAGTGTTGTATATTCAGTG ATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCAT GGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCATTCAGTGG CGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCA GTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATT CACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATT CAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCA TTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCA TTCAGTGGCGGAAGCCCATTCACAGTGCTGCGCATTCAGCGGCGGAAGCG CATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTG CATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAAG CGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCACATTCACCATGTTG TATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGA AGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGT TGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTGCATTCAGTGGCGGAA GCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTATTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0001 a0021c0037t0001	a0021c0037t0001g0189 a0021c0037t0001g0189	1	227	0.0044	1048	c.331 others(1067): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTATTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTG CTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATCCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp1 HG03540.hp1 NA19030.hp1	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0001 a0005c0028t0001	a0005c0028t0001g0326 a0005c0028t0001g0327 a0005c0028t0001g0326 a0005c0028t0001g0327	2	228	0.0088	1048	c.331 others(1067): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATCCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTG CTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00597.hp1 others(52): Show HG00140.hp1 HG00558.hp1 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp2 HG01433.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02451.hp1 HG02523.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp1 NA18522.hp2 NA18941.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18985.hp2 NA18998.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19064.hp2 NA19070.hp1 NA19081.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp2	a0002 a0005 a0007 others(9): Show a0002 a0005 a0007 a0018 a0019 a0021 a0036 a0045 a0049 a0056 a0060 a0064	a0002c0002 a0002c0036 a0002c0047 others(13): Show a0002c0002 a0002c0036 a0002c0047 a0005c0006 a0005c0017 a0005c0027 a0007c0005 a0018c0050 a0019c0033 a0021c0037 a0036c0042 a0045c0039 a0049c0077 a0056c0051 a0060c0048 a0064c0045	a0002c0002t0001 a0002c0036t0001 a0002c0047t0001 others(13): Show a0002c0002t0001 a0002c0036t0001 a0002c0047t0001 a0005c0006t0001 a0005c0017t0001 a0005c0027t0001 a0007c0005t0001 a0018c0050t0001 a0019c0033t0001 a0021c0037t0001 a0036c0042t0001 a0045c0039t0001 a0049c0077t0001 a0056c0051t0001 a0060c0048t0001 a0064c0045t0001	a0002c0002t0001g0038 a0002c0002t0001g0052 a0002c0002t0001g0053 others(52): Show a0002c0002t0001g0038 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0083 a0002c0002t0001g0138 a0002c0002t0001g0146 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0187 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0036t0001g0178 a0002c0036t0001g0179 a0002c0047t0001g0140 a0005c0006t0001g0014 a0005c0006t0001g0016 a0005c0006t0001g0017 a0005c0006t0001g0020 a0005c0006t0001g0022 a0005c0006t0001g0034 a0005c0017t0001g0015 a0005c0017t0001g0021 a0005c0017t0001g0023 a0005c0027t0001g0018 a0005c0027t0001g0019 a0007c0005t0001g0024 a0007c0005t0001g0025 a0007c0005t0001g0026 a0007c0005t0001g0027 a0007c0005t0001g0029 a0007c0005t0001g0030 a0007c0005t0001g0031 a0007c0005t0001g0032 a0007c0005t0001g0033 a0018c0050t0001g0184 a0019c0033t0001g0141 a0019c0033t0001g0195 a0021c0037t0001g0188 a0036c0042t0001g0186 a0045c0039t0001g0012 a0049c0077t0001g0180 a0056c0051t0001g0190 a0060c0048t0001g0185 a0064c0045t0001g0194	55	281	0.1957	1048	c.331 others(1067): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTG CTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGTGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02683.hp1 HG01069.hp2 HG01071.hp1 HG02683.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0075 a0009c0011t0001g0076 a0009c0011t0001g0078 a0009c0011t0001g0075 a0009c0011t0001g0076 a0009c0011t0001g0078	3	229	0.0131	1048	c.331 others(1067): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGTGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTG CTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATGCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	227	0.0044	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATGCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCCGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	227	0.0044	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCCGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCAGTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	227	0.0044	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCAGTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01074.hp1 others(19): Show HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01123.hp1 HG01169.hp1 HG01256.hp1 HG01261.hp1 HG02040.hp1 HG02135.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp2 NA18945.hp1 NA18954.hp1 NA18979.hp2 NA18986.hp2 NA18999.hp2 NA19057.hp1 NA19065.hp2 NA19070.hp2 NA20905.hp2	a0002 a0018 a0029 others(2): Show a0002 a0018 a0029 a0051 a0062	a0002c0002 a0002c0018 a0002c0032 others(4): Show a0002c0002 a0002c0018 a0002c0032 a0018c0031 a0029c0049 a0051c0043 a0062c0044	a0002c0002t0001 a0002c0018t0001 a0002c0032t0001 others(4): Show a0002c0002t0001 a0002c0018t0001 a0002c0032t0001 a0018c0031t0001 a0029c0049t0001 a0051c0043t0001 a0062c0044t0001	a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 others(19): Show a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0018t0001g0002 a0002c0018t0001g0003 a0002c0018t0001g0051 a0002c0032t0001g0043 a0002c0032t0001g0047 a0018c0031t0001g0044 a0029c0049t0001g0049 a0051c0043t0001g0060 a0062c0044t0001g0046	22	248	0.0887	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGTGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	227	0.0044	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGTGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(1041): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	230	0.0043	1048	c.115 others(1065): Show c.115-2573_115-2572insATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GCCCAGCG others(1041): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTG GGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GGTGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTG TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	7	0.1429	1048	c.64 others(1059): Show c.6442_*6443insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCA CCCCCGCTGGGCACCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4343		chr20	TogoVar
TRAF6_chr11_36478769_36515272	36507379	T T	TACGTATA others(1041): Show TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTAT ACATACATAAATGTATATACGTATATATACATGTATTATACATACATAAA TGTATATACGTATATATACATGTATTATACATACATAAATGTATATACGT ATATATACATGTATTATACATACATAAATGTATATACGTATATATACATG TATTATACATACATAAATGTATATACGTATATATACATGTATTATACATA CATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTAT ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTA TACATACATAAATGTATATACGTATATATACATGTATTATACATACATAA ATGTATATACGTATATATACATGTATTATACATACATAAATGTATATACG TATATATACATGTATTATACATACATAAATGTATATACGTATATATACAT GTATTATACATACGTAAATGTATATATACATTATACATACGTAAATGTAT ATATGTATATATACATTATACATACGTAAATGTATATATGTATATATACA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATATATGTATATATACATTATACATACGTA AATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTAT ATATACATTATACATACGTAAATGTATATATGTATATATACATTATACAT ACGTAAATGTATTATACATAAATGTATATATGTATATATACATGTATTAT ACATACATAAATGTATATATGTATATATACATGTATTATACATACATAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	361	0.0028	1048	c.-23 others(1065): Show c.-23+2668_-23+2669insTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATAATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATGTATATATACATATA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTAT GTATAATGTATATATACATATATACATTTACGTATGTATAATGTATATAT ACATTTACGTATGTATAATACATGTATATATACGTATATACATTTATGTA TGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACA TGTATATATACGTATATACATTTATGTATGTATAATACATGTATATATAC GTATATACATTTATGTATGTATAATACATGTATATATACGTATATACATT TATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTAT AATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTAT ATATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATA TACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGT ATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATAC ATGTATATATACGTATATACATTTATGTATGTATAATACATGTATATATA CGTATATACATTTATGTATGTATAATACATGTATATATACGTATATACAT TTATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTA TAATACATGTATATATACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1041): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	113	0.0088	1048	c.53 others(1059): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCC TCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCC TCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCC CTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTC CCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1041): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	113	0.0088	1048	c.53 others(1059): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCC TCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCC TCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCC CTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTC CCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1041): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGA GGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	113	0.0088	1048	c.53 others(1059): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTC CGTCCCTCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCC CCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCC TCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCC CTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTC CCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1041): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	113	0.0088	1048	c.53 others(1059): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCCTCTCCT CCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCC TCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCC CTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTC CCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(1042): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATTCACACACACCCACCCACCCACACCCACACCCACCACACACACCCAC ACCCCCACACACACCCTCCCACCCCCACACACACACATACCCCCACCACA CACCCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCAC CACACACCCACATACACCCACACCCCCACCACACACCCATACACACACCC CCACATACTAATACACACACACTCCCACACCCTCCCACCCCCCCACACCC CCACCACACCAATACACACCCACACACCCCCTCACACACACACCCACACA CCCATACACACACCCACCACACACCCATACATACACACCCCCACACCCCC TCACACCCTTCCCCCACTCACCCATACACAACCCCCACCACACCCCCACA CCCATACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCC TCACACACCCTCCCCCCACACACCCATACACACCCCCCCACCACACCCCC ACACCCATACACACACACCCCCACCACACCCATACACACACCCCTGCACC CCCTCACACACCCTCCCCCCTCACCCATACACAACCCCCCACCACACCCC CACACCCATACACACACACCCCCACCACACCCATACACACACCCCTGCAC CCCCTCACACACCCTCCCCCCTCACCCATACACAACCCCCACCACACCCC CACACCCATACACACACACACCCCCACCACACCCATACACACACCCCTGC ACCCCCTCACACACCCTCCCCCCACTCACCCATACACAACCCCCACCACA CCCCCACCACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCC CACACACCTATCCCCACCACACACCCATACACACACACCCACACACACAC CACACCCATACACACACATACCCCCACACCCCCACACACACCCTCCCTCA CACACACCCCCACCACACACCCATACACACCCCAACCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0024 a0001c0010t0024	a0001c0010t0024g0023 a0001c0010t0024g0023	1	12	0.0833	1049	c.387 others(1068): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGTTGGGGTGTGT ATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTG GGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGG GTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGT GTGTGTGTATGGGTGTGGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAG TGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTG GGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGG TGAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGGTTGTGTATGG GTGAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTG GTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGGGTGTGTATG GGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGT GTGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTA TGGGTGAGTGGGGGAAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGG GTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTG TGTGGGTGTGTATTGGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGG GAGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGG GGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTG TGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGG GGGTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTG TGGGTGGGTGGGTGTGTGTGAATGGGTGTGGGGGTGTGGGGGTCTGGTGT GTGTGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(1042): Show CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCCAGA CAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG GACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCA GACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCTGCCA TGGGCATCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCT AATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0154 a0001c0003t0016g0154	1	311	0.0032	1049	c.401 others(1066): Show c.401+8844_401+8845insTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCT GCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACC TCCCTCCTAATCCCCCCAGACAACCTGCCCACCACAGACACCTCCCTCCT AATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTC CAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC TCCAGACCACCTGCCTGCCATGGGCATCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGACAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111934	A A	ACACCTCC others(1042): Show ACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	93	0.0108	1049	c.401 others(1066): Show c.401+9092_401+9093insCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC TCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGA CCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACA GACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCT GCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCT AATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(1042): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATGTATATATTATATATTATATATATTA TATACATATAATATATATTCTCATATATATTATATATACTCATATATATA ATATATATTCTCATATATATATTATATATTCTCATATATATAATATATAT ATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATAT TATATATATTCTCATATATTATATATATACTCATATATAATGTATATATT CTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATA TAATATATATTCTCATATATGACATATTATATATATTCTCATATATATTA TATATTCTCATATATATTATATATTCTAATATATAATATATATTCTCATA TAATATATTATATATTCTCATATAATATATTATATATTCTCATATAATAT ATTATAAATTCTCATATAATATATTATATATTCTCATATATAATATATTA TATATTCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATATTATATATGCTCAT ATATAATATATTATATATGCTCATATATAATATATATGCTCATATATAAT ATATATGCTCATATATAATATATTATATATGCTCATATATAATATATTAT ATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATAATATATATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATA TATAATATATTATGTATGCTCATATATAATATATTATGTATGAGCATATA TAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0000 a0003c0003t0024g0000	1	10	0.1000	1049	c.10 others(1062): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TACATAATATATTATATATGAGCATATATATTATATATGAGCATATATAA TATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATA TATTATATATGAGCATATATAATATATTATATATGAGCATATATAATATA TTATATATGAGCATATATATTATATATGAGCATATATATTATATATGAGC ATATATAATATATTATATATGAGCATATATAATATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATAT ATTATATATGAGAATATATAATATATTATATATGAGAATATATAATATAT TATATGAGAATTTATAATATATTATATGAGAATATATAATATATTATATG AGAATATATAATATATTATATGAGAATATATATTATATATTAGAATATAT AATATATATGAGAATATATAATATATATGAGAATATATATAATATGTCAT ATATGAGAATATATATTATATATGAGAATATATATTATATAAATGAGAAA ATATATATTATATATTAGAATATATACATTATATATGAGTATATATATAA TATATGAGAATATATATAATATATGAGTATATATTATATATATGAGAATA TATATTATATATGAGAATATATATATTATATATATGAGAATATATAATAT ATATATGAGAATATATATTATATATATGAGTATATATAATATATATGAGA ATATATATTATATGTATATAATATATATAATATATAATATATACATATAT ACATATATACATATAATATATAAACATATAATATATAATATATACATGTA ATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(1042): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATGTATATATTATATATTATATATATTA TATACATATAATATATATTCTCATATATATTATATATACTCATATATATA ATATATATTCTCATATATATATTATATATTCTCATATATATAATATATAT ATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATAT TATATATATTCTCATATATTATATATATACTCATATATAATGTATATATT CTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATA TAATATATATTCTCATATATGACATATTATATATATTCTCATATATATTA TATATTCTCATATATATTATATATTCTAATATATAATATATATTCTCATA TAATATATTATATATTCTCATATAATATATTATATATTCTCATATAATAT ATTATAAATTCTCATATAATATATTATATATTCTCATATATAATATATTA TATATTCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATATTATATATGCTCAT ATATAATATATTATATATGCTCATATATAATATATTATATATGCTCATAT ATAATATATATGCTCATATATAATATATATGCTCATATATAATATATTAT ATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATAATATATATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATA TATAATATATTATGTATGCTCATATATAATATATTATGTATGAGCATATA TAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0000 a0001c0001t0024g0000	1	10	0.1000	1049	c.10 others(1062): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TACATAATATATTATATATGAGCATATATATTATATATGAGCATATATAA TATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATA TATTATATATGAGCATATATAATATATTATATATGAGCATATATATTATA TATGAGCATATATATTATATATGAGCATATATAATATATTATATATGAGC ATATATAATATATTATATATGAGCATATATAATATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATAT ATTATATATGAGAATATATAATATATTATATATGAGAATATATAATATAT TATATGAGAATTTATAATATATTATATGAGAATATATAATATATTATATG AGAATATATAATATATTATATGAGAATATATATTATATATTAGAATATAT AATATATATGAGAATATATAATATATATGAGAATATATATAATATGTCAT ATATGAGAATATATATTATATATGAGAATATATATTATATAAATGAGAAA ATATATATTATATATTAGAATATATACATTATATATGAGTATATATATAA TATATGAGAATATATATAATATATGAGTATATATTATATATATGAGAATA TATATTATATATGAGAATATATATATTATATATATGAGAATATATAATAT ATATATGAGAATATATATTATATATATGAGTATATATAATATATATGAGA ATATATATTATATGTATATAATATATATAATATATAATATATACATATAT ACATATATACATATAATATATAAACATATAATATATAATATATACATGTA ATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(1042): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATTATATATTCTCATATATATAATATATATA TTCTCATATATAATATATATTCTCATATATATAATATATACTCATATATT ATATATATTCTCATATATTATATATATACTCATATATAATGTATATATTC TAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATAT AATATATATTCTCATATATGACATATTATATATATTCTCATATATATTAT ATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCTCA TATAATATATTATATATTCTCATATAATATATTATAAATTCTCATATAAT ATATTATATATTCTCATATATAATATATTATATATTCTCATATATAATAT ATTATATATTCTCATATATAATATATTATATATGCTCATATATAATATAT TATATATGCTCATATGTAATATATTATATATGCTCATATGTAATATATTA TATATGCTCATATGTAATATATTATATATGCTCATATGTAATATATTATA TATGCTCATATGTAATATATTATATATGCTCATATGTAATATATTATATA TGCTCATATGTAATATATTATATATGCTCATATGTAATATATTATATATG CTCATATGTAATATATTATATATGCTCATATGTAATATATTATATATGCT CATATGTAATATATTATATATGCTCATATGTAATATATTATATATGCTCA TATATAATATATTATATATGCTCATATATAATATATTATATATGCTCATA TATAATATATTATATATGCTCATATATAATATATTATGTATGCTCATATA TAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0000 a0002c0002t0008g0000	1	10	0.1000	1049	c.10 others(1062): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTACATATGAGCATA TATAATATATTACATATGAGCATATATAATATATTACATATGAGCATATA TAATATATTACATATGAGCATATATAATATATTACATATGAGCATATATA ATATATTACATATGAGCATATATAATATATTACATATGAGCATATATAAT ATATTACATATGAGCATATATAATATATTACATATGAGCATATATAATAT ATTACATATGAGCATATATAATATATTACATATGAGCATATATAATATAT TACATATGAGCATATATAATATATTATATATGAGCATATATAATATATTA TATATGAGAATATATAATATATTATATATGAGAATATATAATATATTATA TATGAGAATATATAATATATTATATGAGAATTTATAATATATTATATGAG AATATATAATATATTATATGAGAATATATAATATATTATATGAGAATATA TATTATATATGAGAATATATAATATATATGAGAATATATATAATATGTCA TATATGAGAATATATATTATATATGAGAATATATATTATATAAATGAGAA AATATATATTATATATTAGAATATATACATTATATATGAGTATATATATA ATATATGAGAATATATATAATATATGAGTATATATTATATATATGAGAAT ATATATTATATATGAGAATATATATATTATATATATGAGAATATATAATA TATATATGAGAATATATATTATATATATGAGTATATATAATATATATGAG AATATATATTATATGTATATAATATATATAATATATAATATATAATATAT ACATATATACATATAATATATAAACATATAATATATAATATATACATGTA ATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159103	T T	TATATAAT others(1042): Show TATATAATATATATTACATGTATATATTATATATTATATGTTTATATATT ATATGTATATATGTATATATGTATATATTATATATTATATATATTATATA CATATAATATATATTCTCATATATATTATATATACTCATATATATAATAT ATATTCTCATATATATATTATATATTCTCATATATATAATATATATATTC TCATATATAATATATATTCTCATATATATAATATATACTCATATATTATA TATATTCTCATATATTATATATATACTCATATATAATGTATATATTCTAA TATATAATATATATTTTCTCATTTATATAATATATATTCTCATATATAAT ATATATTCTCATATATGACATATTATATATATTCTCATATATATTATATA TTCTCATATATATTATATATTCTAATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATTCTCATATAATATATTA TAAATTCTCATATAATATATTATATATTCTCATATATAATATATTATATA TTCTCATATATAATATATTATATATGCTCATATATAATATATTATATATG CTCATATATAATATATTATATATGCTCATATATAATATATTATATATGCT CATATATAATATATTATATATGCTCATATATATTATATATGCTCATATAT AATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAA TATATATGCTCATATATAATATATATGCTCATATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATATGCTCATATA TAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATATATA ATATATTATGTATGCTCATATATAATATATTATGTATGAGCATATATAAT ATATTATGTATGAGCATATATAATATATTATGTATGAGCATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0025 a0003c0003t0025	a0003c0003t0025g0000 a0003c0003t0025g0000	1	414	0.0024	1049	c.10 others(1062): Show c.10500_*10501insGTATTATATATGCTCATACATAATATATTATA TATGCTCATACATAATATATTATATATGCTCATACATAATATATTATATA TGAGCATACATAATATATTATATATGAGCATACATAATATATTATATATG AGCATACATAATATATTATATATGAGCATATATATTATATATGAGCATAT ATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATAT AATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAT TATATATGAGCATATATATTATATATGAGCATATATAATATATTATATAT GAGCATATATAATATATTATATATGAGCATATATAATATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGAATATATAATATATTATATATGAGAATATATAAT ATATTATATGAGAATTTATAATATATTATATGAGAATATATAATATATTA TATGAGAATATATAATATATTATATGAGAATATATATTATATATTAGAAT ATATAATATATATGAGAATATATAATATATATGAGAATATATATAATATG TCATATATGAGAATATATATTATATATGAGAATATATATTATATAAATGA GAAAATATATATTATATATTAGAATATATACATTATATATGAGTATATAT ATAATATATGAGAATATATATAATATATGAGTATATATTATATATATGAG AATATATATTATATATGAGAATATATATATTATATATATGAGAATATATA ATATATATATGAGAATATATATTATATATATGAGTATATATAATATATAT GAGAATATATATTATATGTATATAATATATATAATATATAATATATACAT ATATACATATATACATATAATATATAAACATATAATATATAATATATACA TGTAATATATATTATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2575		chr13	TogoVar
ARL4A_chr7_12682633_12695958	12685527	T T	TAGAAACA others(1042): Show TAGAAACATAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGA ACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGAC AAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAA AAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACT TCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCA TCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCA TCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGT GCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGAC TGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGA TCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATAT ACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATG TTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATG CCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGG AATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACA TGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAA AACCAAACACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGAT CACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGT CGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAAAAAAGAAAAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0002 a0001c0001t0022g0002	1	425	0.0024	1049	c.-22 others(1060): Show c.-2291_-2290insAGAAACATAAAGAGCTTCTGCACAGCAAAAGAAA CTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCA ACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAA ACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGG ACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACAC ATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAAC CACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGT CAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTA CACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTG GCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCC CATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGAC ACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTG GAACCAACCCAAATGCCCAACAATGATAGACTGGATTAAGAAAATGTGGC ACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATA TCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACT ATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGTA ATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGG GGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATA CCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACAT GTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTT AGAGTATAATAAAAAAAAAAAAAAAAAGAAAAAACAAAACAAAAAAAAAA AAAAAAAAAAAAAAA	ARL4A	ENSG00000122644.13	transcript	ENST00000651779.1	protein_coding		2105		chr7	TogoVar
ASAP2_chr2_9201812_9410678	9400231	C C	CCCTCCCC others(1042): Show CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTC CTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGCCCCCTGCCCCCC TCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCCTCCC CTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	190	0.0053	1049	c.273 others(1066): Show c.2734+174_2734+175insTCCTGCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTC CTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTC CTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTAC CCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGCCCCCTG CCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCC CCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCC TCCCCTCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
C10orf67_chr10_23197696_23349797	23331540	A A	AAGGGAAA others(1042): Show AAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGG GAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGG AAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGA AAACGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGG AAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACC GGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGA AGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAACCAGGACAGGAACCG GGACAGGAACCGGGAAGGGAAGGGATGGGAACCGATGGGAACCGGGATGG CAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGAAACCGGGACGG CAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGAGAACCGGGAAG GGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAGAGAACAGGGAA GGGAGGGTAGGGGAGGGAAACCGGGAAGGAAGAGGAAGGGGAGGGGAGAC CGGGACGGGAACTGGGACGGAAGGGTAGGGAACCGGGCGGGAACCGGGAC GGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGAACCAGGACAGGA ACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAGGGACAGGAATCG GGAAGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAACCAGGAAAGGAA AGGAAGGCAAGCGGGACGGGAGCCGGGAAGGCAAGAGAAGGGAACCGGGA AGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGAACCGGGAAGGGC AGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCGG GACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGCACAGGAAGG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	219	0.0046	1049	c.327 others(1066): Show c.327+1521_327+1522insCCTTCCTGTGCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGTCCTGTTCCCG TCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTTGCCTTCCCGG CTCCCGTCCCGCTTGCCTTCCTTTCCTTTCCTGGTTCCCTTCCCTTTCCG GTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTCCCTTCCCTTC CCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGTCCCGTTTCTC GTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGGTTCCCTACCC TTCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCCTCTTCCTTCCC GGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCCTTCCCTTCCCG GTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCCCTTCTTTTCCC TTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTCCCTTCCCGTCC CGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATCGGTTCCCATCC CTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCC TTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCC CGGTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTC CCTTTTCCCTTCCCTTCCGTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTT CCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTC CCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTT CCCTTCCCTTCCCTTTTCCCT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
CALN1_chr7_71774491_72417338	72114242	T T	TGGGAAGG others(1042): Show TGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGTAAAAATAAAAGTGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	97	0.0103	1049	c.245 others(1066): Show c.245-7949_245-7948insCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCACTTTTATTTTTACTCCCTTCC CTTCCCTTCCCTTCCCTTCCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAGAAAGA others(1042): Show AAGAAAGAAAGAAAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01952.hp2 HG01361.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	2	170	0.0118	1049	c.403 others(1064): Show c.403-623_403-622insCTTTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTCTTTTTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP74_chr1_1916957_2008786	1929391	A A	ACAGGTCC others(1042): Show ACAGGTCCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGGAGATGG TGAGGGGAGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGGAGAGGGTAG GGGAGGGAGGGGAGAGGGTAGGGGAGGGAGGGAGAGGAGGGGAGAGGGTA GGGAGGGAGAGGAGGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAA GAGGAGGGAGGGGAGAGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGA GGGGAAATGGTATGGGAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGA GCAGAGGGGAAAGGGTAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGGAGG TAGGGAGGGAGGGGAGAGGGTAGGGGATGGGAGAGGGTAGGGGAGGGAGA GGGTAGGGGAGGGAAGGAGGGGAGAGGGTAGAGGAGGGAGGAGGGGAGAG GGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGG AGAGGGGAGGGGAGGGGAGGAGGGGAGAGGGGTAGGGAGGGAGGGGAGGA GGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGGAGGGAGGGAGGGGA GGGGAGGGGGGGAGGGGGTAGGGAGGGAGGGAGGGAGAGGAGAGGGGAGG GAGGGAGGGGAGGAGGGGAGAGGGTAGGGGAGGGAGGGAGAGGAGGGGAG CGGGTAGGGGAGGGAAGGAGGGGAGAGGGTAGAGGAGGGAGGAGGGGAGA GGGGAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAG GAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAG AGGAGAGGGGGAGGGAGGGAGGGGAGGAGGGAGAGGGAGGGTAGGGAGGA GGGAGAGAGGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGG CAGGAGGGGAGAGGGTAGGGAGGGAGGGGAGGGAGGGAAGAGGGTAGGGA GGGGAGGAGGGGAGAGGGGAGGGAGGGAGGGAGAGGAGGGGAGAGGGTAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0009 a0003c0047t0009	a0003c0047t0009g0270 a0003c0047t0009g0270	1	273	0.0037	1049	c.328 others(1066): Show c.3289-510_3289-509insCTACCCTCTCCCCTCCTCTCCCTCCCTC CCTCCCCTCTCCCCTCCTCCCCTCCCTACCCTCTTCCCTCCCTCCCCTCC CTCCCTACCCTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTG CCCTCCCTCCCTCCTCTCTCCCTCCTCCCTACCCTCCCTCTCCCTCCTCC CCTCCCTCCCTCCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCC TCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCT CCTCTTCCTCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTACCCTCTC CCCTCCTTCCCTCCCCTACCCGCTCCCCTCCTCTCCCTCCCTCCCCTACC CTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTC CCTACCCCCTCCCCCCCTCCCCTCCCCTCCCTCCCTCCCCCTCTCCTCTC CCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTACCCCTCTCCC CTCCTCCCCTCCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCC TCCTCTTCCTCCCTCCCCTACCCTCTCCCCTCCTCCCTCCTCTACCCTCT CCCCTCCTTCCCTCCCCTACCCTCTCCCTCCCCTACCCTCTCCCATCCCC TACCCTCTCCCCTCCCTCCCTACCTCCCCCTACCCTCTCCCTTCCTTCCC TCCCCTACCCTTTCCCCTCTGCTCCCTCTCTCCCCTACCCTCTCCCCTCC CTCCCTCCCATACCATTTCCCCTCCTTCCCTCCCCTACCCGCTCCCCTCC CTCCCCTCTCCCCTCCCTCCTCTTTCCTCTCCCCTCCCTGCGTCCCCTCC CTTCTCCCCTCCTCTCCCTCCCTACCCTCTCCCCTCCTCTCCCTCCCTCC CCTACCCTCTCCCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCCACCCT CTCCCCTCCCTCCCTCCCCTCACCATCTCCCCTGCCTCCCCTCACCCTCT CTCCTGCCTCCCCAGGACCTG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CLEC17A_chr19_14578084_14617035	14595973	A A	ATGTTGTT others(1042): Show ATGTTGTTGGTGATGATGATGGTGGTGGTGAAGGCATTGATGGTGTTGGT GATGACAGTGCTGTTGGTAGTAATGATGGTGGTGAAGGTGGAGGTGGTGA TGGTGCCGTTAATATTGACAATGGTAGTGAGATAGTGTTAGGGTGGTGAT GGTGGGTGGAGATGGTGGTGGTGGTGGAGATAGTGATGGTGTTGTTGGTA GTGATGGTGGTGGTGATGGTGGAAGTAGTGATGGTGTTGTTGGTAGACAT GATGGTGGTGATGGTGGATGTAGTGATGGTGTTGGTAGTGATGATGGTGG TGACGATGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTGGTGATGGTG GAGGTAGTGATGGTGTTGATAATGATGATGGTGGTGATGGTGGAGGTAGT GATGGTGTTGGTAGTGATGATGGTGGTGACGATGGAGGTAGTGATGGTGT TGTTGGGAGTGATGATGGTGTTGTTGGGAGTGATGATGGTGGTGATGGTG GAGGTAGTGATGGTGTTGGGATTGATGATGGTGATGGTGGAGGTAGTGAT GGTGTTGTTGGGAGTGATGATGGTGGTGGTGGTGGAGGTAGTGATGGTGT TGGGAGTGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGGAGTG ATGATGGTGGTGGTGGAGGTAATGATGGTGTTGTTGGGAGTGATGATGGT GGTGATGGTGGAGGTAGTGATGGTGTTGTTGGGATTGATGATGGTGATGG TGGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGGTGGTGGAG GTAGTGATGGTGTTGTTGGGAGTGATGATGGTGTTGTTGGGAGTGATGAT GGTGGTGATGGTGGAGGTAGTGATGGTGTTGGGATTGATGATGGTGATGG TGGAGGTAGTCATGGTGTTGTTGGGAGTGATGATGGTGGTGGTGGTGGAG GTAGTGATGGTGTTGTTGGTAGAGATGATGGTGGTGATGGTGGAGGTAGT GATGGTGTTGTTGGGAGTGATGATGGTGGTGGTGGTGGAGGTAGTGATGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	30	0.0333	1049	c.445 others(1064): Show c.445+668_445+669insGATGATGATGGTGGTGGTGAAGGCATTGAT GGTGTTGGTGATGACAGTGCTGTTGGTAGTAATGATGGTGGTGAAGGTGG AGGTGGTGATGGTGCCGTTAATATTGACAATGGTAGTGAGATAGTGTTAG GGTGGTGATGGTGGGTGGAGATGGTGGTGGTGGTGGAGATAGTGATGGTG TTGTTGGTAGTGATGGTGGTGGTGATGGTGGAAGTAGTGATGGTGTTGTT GGTAGACATGATGGTGGTGATGGTGGATGTAGTGATGGTGTTGGTAGTGA TGATGGTGGTGACGATGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTG GTGATGGTGGAGGTAGTGATGGTGTTGATAATGATGATGGTGGTGATGGT GGAGGTAGTGATGGTGTTGGTAGTGATGATGGTGGTGACGATGGAGGTAG TGATGGTGTTGTTGGGAGTGATGATGGTGTTGTTGGGAGTGATGATGGTG GTGATGGTGGAGGTAGTGATGGTGTTGGGATTGATGATGGTGATGGTGGA GGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGGTGGTGGAGGTAG TGATGGTGTTGGGAGTGATGATGGTGGTGATGGTGGAGGTAGTGATGGTG TTGGGAGTGATGATGGTGGTGGTGGAGGTAATGATGGTGTTGTTGGGAGT GATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGGATTGATGA TGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTG GTGGTGGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGTTGTTGGG AGTGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGGATTGATGA TGGTGATGGTGGAGGTAGTCATGGTGTTGTTGGGAGTGATGATGGTGGTG GTGGTGGAGGTAGTGATGGTGTTGTTGGTAGAGATGATGGTGGTGATGGT GGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGGTGGTGGAGG TAGTGATGGTGTTGTTGGT	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CWF19L2_chr11_107321360_107462825	107410298	T T	TGAAAGAA others(1042): Show TGAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAA ATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAA TGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGT GGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAATAAATAAATAAATAAATAAATAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0380 a0001c0001t0005g0380	1	390	0.0026	1049	c.161 others(1068): Show c.1617+5910_1617+5911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTATTTATTTATTTATTTA TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTC	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
DYSF_chr2_71448561_71691763	71618373	A A	ATGTGTGG others(1042): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT GTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG TGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00642.hp2 others(22): Show HG00438.hp1 HG00544.hp1 HG00642.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01978.hp2 HG02083.hp2 HG02300.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18952.hp2 NA18963.hp2 NA18994.hp1 NA19064.hp1 NA19074.hp1 NA20752.hp2	a0001 a0002 a0025 others(1): Show a0001 a0002 a0025 a0026	a0001c0002 a0001c0005 a0001c0012 others(8): Show a0001c0002 a0001c0005 a0001c0012 a0001c0014 a0001c0057 a0001c0071 a0001c0075 a0001c0076 a0002c0067 a0025c0054 a0026c0063	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0012t0001 a0001c0014t0001 a0001c0057t0001 a0001c0071t0002 a0001c0075t0001 a0001c0076t0001 a0002c0067t0001 a0025c0054t0002 a0026c0063t0001	a0001c0002t0001g0040 a0001c0002t0001g0094 a0001c0002t0001g0131 others(22): Show a0001c0002t0001g0040 a0001c0002t0001g0094 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0161 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0005t0001g0029 a0001c0005t0002g0145 a0001c0005t0002g0152 a0001c0012t0001g0072 a0001c0012t0001g0128 a0001c0014t0001g0109 a0001c0014t0001g0169 a0001c0057t0001g0107 a0001c0071t0002g0078 a0001c0075t0001g0055 a0001c0076t0001g0118 a0002c0067t0001g0038 a0025c0054t0002g0164 a0026c0063t0001g0036	25	132	0.1894	1049	c.441 others(1068): Show c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT GTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGG TGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGA GGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71618373	A A	ATGTGTGG others(1042): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT GTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG TGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18948.hp1 HG01934.hp2 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0122 a0001c0002t0002g0151 a0001c0002t0001g0122 a0001c0002t0002g0151	2	109	0.0183	1049	c.441 others(1068): Show c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT GTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGG TGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGA GGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618373	A A	ATGTGTGG others(1042): Show ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT GTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG TGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTG TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGG TAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00642.hp1 others(23): Show HG00438.hp1 HG00544.hp1 HG00642.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01261.hp2 HG01978.hp1 HG02083.hp1 HG02300.hp1 HG02523.hp1 HG02698.hp2 HG03017.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18952.hp2 NA18963.hp1 NA19064.hp1 NA19074.hp1 NA20752.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0027 a0028	a0001c0002 a0001c0005 a0001c0013 others(9): Show a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0001c0057 a0001c0073 a0001c0080 a0001c0081 a0002c0070 a0005c0035 a0027c0054 a0028c0066	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0013t0001 a0001c0013t0002 a0001c0014t0001 a0001c0014t0002 a0001c0057t0001 a0001c0073t0001 a0001c0080t0001 a0001c0081t0001 a0002c0070t0001 a0005c0035t0001 a0027c0054t0002 a0028c0066t0001	a0001c0002t0001g0046 a0001c0002t0001g0067 a0001c0002t0001g0073 others(23): Show a0001c0002t0001g0046 a0001c0002t0001g0067 a0001c0002t0001g0073 a0001c0002t0001g0107 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0185 a0001c0005t0001g0062 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0013t0001g0057 a0001c0013t0002g0186 a0001c0014t0001g0004 a0001c0014t0002g0175 a0001c0057t0001g0009 a0001c0073t0001g0129 a0001c0080t0001g0088 a0001c0081t0001g0018 a0002c0070t0001g0079 a0005c0035t0001g0123 a0027c0054t0002g0169 a0028c0066t0001g0075	26	145	0.1793	1049	c.446 others(1068): Show c.4465-2159_4465-2158insTGTGTGTGGTAGAGGTGGTGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT AGAGGTGTGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTG TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT GTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGG TGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGA GGTGTGTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar

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