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
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(625): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0047 a0001c0006t0001g0047	1	8	0.1250	632	c.937 others(649): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCNN1D_chr1_1275436_1297025	1289854	C C	CCGTGTCT others(625): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	228	0.0044	632	c.166 others(649): Show c.1663-416_1663-415insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(625): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCC CACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCTCCCCCCTCCCC ACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	40	0.0250	632	c.77- others(649): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCTCCCCC CTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(625): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCC CACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCTCCCCCCTCCCC ACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	45	0.0222	632	c.22+ others(649): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCTCCCCC CTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(625): Show CCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTACCTCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCCCACCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCCTCCCTATC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCCTC CCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCC TCCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCC CTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0050 a0002c0002t0008g0050	1	45	0.0222	632	c.22+ others(649): Show c.22+36337_22+36338insTCCCCTCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCCCACCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCCTC CCTATCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCC CACCCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(625): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGG AAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGGGGG GAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAG GGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	136	0.0147	632	c.12 others(643): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCTTCCCCTCCCCT CCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCT CCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC CTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCTCCCCCT CCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCG TCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTC TCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTC TGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCT CCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(625): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGAGGGGA GGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGG GGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGG GAGGGGAAGGGGGGAAGGGGAAGGGGAGGAGGGAGGGGGAGGGGAGGGGA AGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGG AAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAG GGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	632	c.12 others(643): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCTTCCCCTTCCCCCCTTCCCCTCC CCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCT CCCCTCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCC TCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCC CTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTC CTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTC CCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCC CCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(625): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAG GGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGG AGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG00140.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	4	0.5000	632	c.12 others(643): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCT TCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCC CCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCT CCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTC CCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCC TCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCC TCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCC CTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCC CCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(625): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGC TGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCAAG GAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACACA CTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCATGC CTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGCCC AGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGCCA AGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCAACC AATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATTTT TAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTATA ACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTTTG CCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	98	0.0102	632	c.531 others(651): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGT AAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTATG ATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCTGC TTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	80	0.0125	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGCGGTGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	80	0.0125	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCACCGCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	80	0.0125	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01167.hp1 others(47): Show HG00558.hp2 HG00639.hp1 HG01167.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02818.hp2 HG03098.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03834.hp1 NA18522.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18973.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18998.hp1 NA19003.hp2 NA19074.hp1 NA19079.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0051 a0001c0001t0002g0084 a0001c0001t0003g0003 a0001c0001t0005g0043 a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0009g0034 a0001c0006t0001g0102	50	129	0.3876	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	80	0.0125	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(625): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	80	0.0125	632	c.64 others(643): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTATATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATA CGCATATATGCGAGTATATGTGCATATATACGCATATATGCGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	25	0.0400	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTATAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGTGTATATGTGCATATATACGCATATATGCGAGTATATGTGCATAT ATACGCATATATGCGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTATATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	25	0.0400	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTATAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATA CGCATATATGCGAGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGCATATGTGCATATATACGCATATATGTGTGCATATGTGCATATATA CGCATATATGTGTGCATATGTGCATATATACGCATATATGTGTGCATATG TGCATATATACGCATATATGTGTGCATATGTGCATATATACGCATATATG TGTGCATATGTGCATATATACGCATATATGTGTGCATATGTGCATATATA CGCATATATGTGTGCATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	25	0.0400	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTGTAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGTGTATATGTGCATATATACGCATATATGCGAGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGCATATGTGCATATATACGCATAT ATGTGTGCATATGTGCATATATACGCATATATGTGTGCATATGTGCATAT ATACGCATATATGTGTGCATATGTGCATATATACGCATATATGTGTGCAT ATGTGCATATATACGCATATATGTGTGCATATGTGCATATATACGCATAT ATGTGTGCATATGTGCATATATACGCATATATGTGTGCATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATA CGCATATATGCGAGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	25	0.0400	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTGTAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGTGTATATGTGCATATATACGCATATATGCGAGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(625): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATA CGCATATATGCGTGTATATGTGCATATATACGCATATATGCGTGTATATG TGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATG CGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	25	0.0400	632	c.152 others(651): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTGTAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGCGTGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATAT ATACGCATATATGCGTGTATATGTGCATATATACGCATATATGCGTGTAT ATGTGCATATATACGCATATATGCGAGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(625): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGGGGGTGGGAGCGGGGTGGGAGAACGGGGTGAGA GCGGGGTGGGACAGCGGGGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGA GAGCAGGGTGGGAGGGGTGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGG AGAACGGGGTGGGAGCGAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAG AGCGGGGTGGGGGTGAGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTG GGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGG GGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAAC GGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	4	0.2500	632	c.157 others(651): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCA CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACC CCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCC CACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULT6B1_chr2_37162820_37193670	37166469	T T	TCCCTCCC others(625): Show TCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTGTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTCCCTCCCTTCCTTCCTCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCTCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTT CCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	346	0.0029	632	c.14 others(643): Show c.1465_*1466insGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGA AGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGAGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGAAGGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGG AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAG GAGGAAGGAAGGGAGGGAGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGAAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGG AGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGCAAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGACAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGG	SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding		1350		chr2	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(625): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGATGGTGATGGTGGTGAT GATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGGTGA TGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATGGTAATGGTG GTGGTGATGGTGGTGGTGATAATGTGGCGATGGTGATGGTAATGATGGTG GTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGTGGT GGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGGTGA TGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTGATGACG GTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGCGATGGT GATGGTAATAATGGTGGTGATGGTGATGGTGATGATGGTGATGATGATGA TGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGATAATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGTTGAT GGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGGCGATGG TGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	57	0.0175	632	c.113 others(651): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGG TGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATGATGGTGGTG GTGATGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGATAATGTGGCG ATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCAT GGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGG TGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATGGTAATG ATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGATGGTGGC GGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGATGG TGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGGTGATG GTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGTTGATGGTGATCGTGGTGGTAATGGTGATGATGA TGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTGATGGTG ATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(625): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGGTGGT GATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGG TGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATGGTAATG GTGGTGATGGTGGTGGTGATAATGTGGCGATGGTGATGGTAATGATGGTG GTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGTGGT GGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGGTGA TGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTGATGACG GTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGCGATGGT GATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGATGATGA TGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGATAATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGTCGAT GGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGGCGATGG TGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	57	0.0175	632	c.113 others(651): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATGATGGTG GTGGTGATGGTGATGGTAATGGTGGTGATGGTGGTGGTGATAATGTGGCG ATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCAT GGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGG TGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATGGTAATG ATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGATGGTGGC GGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGACGG TGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGGTGATG GTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGTCGATGGTGATCGTGGTGGTAATGGTGATGATGA TGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTGATGGTG ATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(625): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCGTACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCC TATCCACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCAT CTGCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCA CCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCA CCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACC CGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATA CATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACC CACCTACCCATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01993.hp1 HG02155.hp2 others(1): Show HG00438.hp1 HG01993.hp1 HG02155.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0001 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0114 a0001c0001t0001g0183 a0001c0001t0005g0081 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0183 a0001c0001t0005g0081 a0001c0001t0016g0224	4	31	0.1290	632	c.113 others(651): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACC CCCACATCCATCCTATCTACTCACCCCCGTACCCATCCTATCCACCCACC CACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACC CCCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCC ACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCAC CATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCC CCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCC ATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCAC CTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCAC CCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCAC CCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89884843	C C	CCTCTCCC others(625): Show CCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTCTGCCTGACGCCCCT CTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGC CTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCGTCT GCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCC CTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGACGCCCTCTCCCTCTGC CTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCCTGACGCCCC TCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTC TGCCTGACGCCCTCTCCCTCTGCCTGACGCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0264 a0001c0005t0001g0264	1	203	0.0049	632	c.429 others(647): Show c.429+190_429+191insTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCCCTCTCCCTCTGCCTGACGCCCCCTCTCCC TCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTG ACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCT CCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCC CTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCT GACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTC TC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1627945	A A	ACGGGGGT others(625): Show ACGGGGGTGAGGCGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGTAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	328	0.0030	632	c.299 others(647): Show c.299-520_299-519insAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCGCCTCACCCC CG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(625): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0034 a0001c0001t0018 a0001c0002t0034	a0001c0001t0018g0248 a0001c0002t0034g0124 a0001c0001t0018g0248 a0001c0002t0034g0124	2	112	0.0179	632	c.924 others(649): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGA GAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747485	C C	CGGGAGTC others(625): Show CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGAGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	257	0.0039	632	c.189 others(647): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGAGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP73_chr1_3647516_3741201	3706380	G G	GGGGGTAA others(625): Show GGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAAT CACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGG TGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCC GCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCC CGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGG AGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCGGGGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0084 a0001c0002t0014g0084	1	333	0.0030	632	c.187 others(649): Show c.187-1125_187-1124insAGGGGGGTAATAGGGACAATCACGGTGC CCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCC GCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGG CCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGG GGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGA GGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGT AATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAG GGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACA ATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCAC GGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGC CCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCC GCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGG CCCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGG GGAG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(625): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTA TACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTA TAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACAT TATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATG TATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0129 a0003c0006t0001g0129	1	329	0.0030	632	c.-23 others(649): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATACATGTATATATACATTATACATTTACGTATGTATAATA CATGTATATATACATATATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(625): Show TTATATATATTATATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATAAAAATTATATATATTATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATAATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTGTATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	144	0.0069	632	c.28 others(643): Show c.2888_*2889insTATATATATTATATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATAAAAATTATATATATTATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATAATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTGTATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(625): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	8	0.1250	632	c.657 others(647): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTC CC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(625): Show TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	115	0.0087	632	c.246 others(651): Show c.246-36120_246-36119insTCCTCCCTCCCTCCCTCCCTTCTTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTTC CTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(625): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	177	0.0056	632	c.53+ others(647): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(625): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGACAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	177	0.0056	632	c.53+ others(647): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGA TAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(625): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGCTATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATATGTGATATATATGATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATGTGATATATATGATATATGT GATATATATCATATGTGATATATATGATATATATCACATATATATGATAT ATATCACATATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0156 a0002c0002t0007g0156	1	243	0.0041	632	c.-34 others(643): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCACATATCATATGATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATA TATATCATATATATCACATATGCTATATAGCATATGTGATATATATCATA TATATCACATATGCTATATAGCATATGTGATATATATGATATATATCACA TATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTA TAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATGTGAT ATATATGATATATGTGATATATATCATATGTGATATATATGATATATATC ACATATATATGATATATATCACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(625): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCAGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC ACCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03710.hp2 HG03669.hp1 HG03710.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0008 a0002c0001t0002g0008	2	24	0.0833	632	c.66 others(643): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCAGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCG CCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCAGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ADAMTS3_chr4_72275969_72574221	72314008	G G	GTATTTTT others(626): Show GTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGTGACT CAATTCATTTATTAAGGCAGAGCCTTCCTGATCCAATCACCTGTTAAAGT CCCCACCTCTCAATACTGCCATATTAGAGATTAAGTTTCAACATGAGTTT TGGAGGAGACATTCAAAGCATAGCAGACATGCTCTACAAAACTATAATTC CAAGTACAAAGATCTTCCTTAATCTATTTATTACAATGCTTAATTTAAAG GACATGGCAAACAGCATACCATCGGTAAGAAAGATAATTCCCAATGTGAT AAAATGTATTATCATTCTCACTCTTTTGTAACACTTAGAAACACAGCACT TCATTCCAATGACTTTAAACAAGAAAATGCAGCAAGTACAGGGAAAATTA GGCAAAACTATTCGTGGAAATCTGTTTCATAATTTGTGTTTTAGTGATCT GCCCACCTACCTCTCCTTTGACATTCAATTCTTAATGAGCTCTAAGATTG CTTTCTGCCAAGCCATAGAAATAATTGTACTTTTCAATTAAGTATCCATT TAAATTGGTTGGCCTAAAAACTCTAAACAAATATCAGCGGCTTTATTTTT TTTTTCTTTTTTAATTATTATTATTATTATACTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	179	0.0056	633	c.160 others(650): Show c.1600-187_1600-186insGAGTATAATAATAATAATAATTAAAAAA GAAAAAAAAAATAAAGCCGCTGATATTTGTTTAGAGTTTTTAGGCCAACC AATTTAAATGGATACTTAATTGAAAAGTACAATTATTTCTATGGCTTGGC AGAAAGCAATCTTAGAGCTCATTAAGAATTGAATGTCAAAGGAGAGGTAG GTGGGCAGATCACTAAAACACAAATTATGAAACAGATTTCCACGAATAGT TTTGCCTAATTTTCCCTGTACTTGCTGCATTTTCTTGTTTAAAGTCATTG GAATGAAGTGCTGTGTTTCTAAGTGTTACAAAAGAGTGAGAATGATAATA CATTTTATCACATTGGGAATTATCTTTCTTACCGATGGTATGCTGTTTGC CATGTCCTTTAAATTAAGCATTGTAATAAATAGATTAAGGAAGATCTTTG TACTTGGAATTATAGTTTTGTAGAGCATGTCTGCTATGCTTTGAATGTCT CCTCCAAAACTCATGTTGAAACTTAATCTCTAATATGGCAGTATTGAGAG GTGGGGACTTTAACAGGTGATTGGATCAGGAAGGCTCTGCCTTAATAAAT GAATTGAGTCACACATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA AAATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	11/21			chr4	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCCTCC others(626): Show TCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCC TCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTC CCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCCCTCC TTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTG CCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCA TCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTTTCCTCCTTCACCT CCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCA CCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0192 a0002c0003t0002g0192	1	143	0.0070	633	c.163 others(648): Show c.163-912_163-911insCTCCTTCCCTCCTTCACCTCCCTCCCCCCA TCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCC CTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCAT CCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTT CACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCC TTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCC TCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTT TCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCC TTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCC TCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTC CCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0C_chr16_2508952_2525218	2524018	C C	CATGCACT others(626): Show CATGCACTGCAGTGCAGGTGTCTTAACCCTTGGCGCACACACAGGATGAA GGCAGAGAGCCAACTATTGAGGGTGGGAATTGGGAAGCCTCCTGCCTGGA TCATCTTAGAAACTGGAGGCCCCTTTTCACTCGGGTCTCCCCTGTGCCGT GCACGCCACCTCTTCCAGGGCCCACTCACCCTGGGTGGAATTGGATGGCC ACTTTGCCAGAAGCTTCTTCGGTCTTTTGTTGTCCTGTTCTGGTCCATTA AGACCACCTTCTCTTTTCTGGGGGGTTTCCGCCTGTCCTTTGCTACGGTA CTTGGAGACAGGTGAGCTCACTTTGTTCTTTGCTTTAAGTCTGTTACCTC CTGAGCCAAGGTGAGGCACCTCCAGGGGGCAGCCAGGCCCCTGCCTCTGG CCCCGCACACCCTCTACACTTTGACCTTTCCGGCTGTTTACCTGCCTGGA GTGTGCCTCACTCCCCTCCCCTCAGTTGATCTTTTACTGTGCTCTCTCTA TGTAGCGCCCTCTTGCTCCCTTCTAAAACTCCATTCTGGAAAAACTCAGC CATTGTCTTTTTTTGTTTGTTTTTTTCCTGTTTTAATCTTTAGTGAGCCT GTGTATCCATAGGGCTTGTGAGGAAAAACAGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	334	0.0030	633	c.42 others(644): Show c.4273_*4274insATGCACTGCAGTGCAGGTGTCTTAACCCTTGGCG CACACACAGGATGAAGGCAGAGAGCCAACTATTGAGGGTGGGAATTGGGA AGCCTCCTGCCTGGATCATCTTAGAAACTGGAGGCCCCTTTTCACTCGGG TCTCCCCTGTGCCGTGCACGCCACCTCTTCCAGGGCCCACTCACCCTGGG TGGAATTGGATGGCCACTTTGCCAGAAGCTTCTTCGGTCTTTTGTTGTCC TGTTCTGGTCCATTAAGACCACCTTCTCTTTTCTGGGGGGTTTCCGCCTG TCCTTTGCTACGGTACTTGGAGACAGGTGAGCTCACTTTGTTCTTTGCTT TAAGTCTGTTACCTCCTGAGCCAAGGTGAGGCACCTCCAGGGGGCAGCCA GGCCCCTGCCTCTGGCCCCGCACACCCTCTACACTTTGACCTTTCCGGCT GTTTACCTGCCTGGAGTGTGCCTCACTCCCCTCCCCTCAGTTGATCTTTT ACTGTGCTCTCTCTATGTAGCGCCCTCTTGCTCCCTTCTAAAACTCCATT CTGGAAAAACTCAGCCATTGTCTTTTTTTGTTTGTTTTTTTCCTGTTTTA ATCTTTAGTGAGCCTGTGTATCCATAGGGCTTGTGAGGAAAAACAGCGG	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding		3801		chr16	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(626): Show GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	109	0.0092	633	c.784 others(648): Show c.784-574_784-573insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(626): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGGTG GTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATGGG GGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATA GTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGAT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTG ATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0039 a0001c0001t0012g0039	1	86	0.0116	633	c.21 others(648): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCATCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCATCACCACCATCACCACCATCTCACCATCACCACCACCATCA CCACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCACC ACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCATCAC CACCATCATCACCATCACCACCACCATCACCACCACCATCACCACCATCA TCACTATCACCACCATCACCACCATCATCACCACCACCACCACCACCATC ACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCACCGT CACCCCCATCATTACCATCACCACCACCACCACCACCACCATGACCACCA CCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACC ACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTAC CACCCCCACCACCACTCTCACCACCATCACCATCACCCCCATCATCACCA TCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(626): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTG GTGATGGTGATGGTGACAGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	86	0.0116	633	c.21 others(648): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCACCACCATCACTGTCACCATCACCA TCACCACCATCACCACCATCACCACCATCATCACCACCACCACCATCACC ACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCACCAC CACCATCACCACCATCACCGTCACCACCATCACCACCACCACCATCACCA CCATCATCACCATCACCACCACCATCACCACCACCATCACCACCATCATC ACTATCACCACCATCACCACCATCATCACCACCACCACCACCACCATCAC CACCACCATCACCACCATCACCATCACCACCATCATCACCACCACCGTCA CCCCCATCATTACCATCACCACCACCACCACCACCACCATGACCACCACC ACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCAC CACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTA CCACCCCCACCACCACTCTCACCACCATCACCATCACCCCATCATCACCA TCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(626): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCACCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCATCA TCATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCACC ATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	151	0.0066	633	c.63+ others(646): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATG GTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATG GTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG ATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTG GTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGAT GATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGG TGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTG ATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTG ATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTG GTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGT G	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(626): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCA CTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAA TCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTT CCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCC ACTCTTGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTG TATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCC CCACTTTGTGCCTGTATGGATTTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp2 NA21309.hp1 HG02886.hp1 NA19043.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0059 a0004c0004t0016 a0004c0004t0047 a0001c0001t0059 a0004c0004t0016 a0004c0004t0047	a0001c0001t0059g0158 a0004c0004t0016g0313 a0004c0004t0047g0192 a0001c0001t0059g0158 a0004c0004t0016g0313 a0004c0004t0047g0192	3	167	0.0180	633	c.127 others(652): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTA AGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTG GACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGA TTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTT GTGCCTGTATGGATTTGCCCACTCTTGACATTTCCTGTAAGTGGAATCAC ACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCT GTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(626): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0268 a0001c0002t0027g0268	1	2	0.5000	633	c.162 others(654): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCC CCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCC TCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCC TTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCT CCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(626): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAACTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTATATATATTATATATAAATA TATATAATTTTATATATAATATATATAATTTTATATATTTATATATAAAT ATATATATAATTTATATATAAATATATAAAATTATATATAAATATATATA ATTTATATATAAATATATATAATTTATATATAAATATGTATAATTTTATA TATATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATAT TTATATAAATATATATTTATATATAAAAATTTATATACAAATATATATAA ATATATACAAATATATATATAAATTTATATAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	42	0.0238	633	c.56- others(650): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAACTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TATATATATTATATATAAATATATATAATTTTATATATAATATATATAAT TTTATATATTTATATATAAATATATATATAATTTATATATAAATATATAA AATTATATATAAATATATATAATTTATATATAAATATATATAATTTATAT ATAAATATGTATAATTTTATATATATAAATAGATATAATTTTATATATTT ATTTATATAAATTTTATATATTTATATAAATATATATTTATATATAAAAA TTTATATACAAATATATATAAATATATACAAATATATATATAAATTTATA TAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(626): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATAAAAATATATATAAATATATAAAAAATATAAATAT ATATAAATATATAAATATATGTAAATATATATAAATATATATATAAATAT ATATATAAATATATATATAAATATATATATAAATATATATATATAAATAT ATATAAATATATAACTATATAAATAAATATATATAAATATATAAATATAT AAAAATATATATAAATATATATGTAAATATATAAATATATATAAATATAT ATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATAA ATATATATATAAATATATATAAGTATATAAATATATATATAAATATATAT AAGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAA ATATATATAAGTATATATAAATATATATAAATATATATAAGTATATATAA ATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp2 HG03492.hp1 others(2): Show HG00642.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG06807.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0001 a0011c0021t0020 a0001c0001t0001 a0011c0021t0020	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0241 others(2): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0241 a0001c0001t0001g0254 a0011c0021t0020g0095	5	123	0.0407	633	c.181 others(652): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATTTATATTTATATATATTTACATATATA TTTAGAATTACATATTTATATATATATTTATATTTATATATATTTATATA TATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(626): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACC CCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTC TGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	102	0.0098	633	c.737 others(652): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTGG CTGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar

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