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
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(765): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGAGGAGGAAGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGGGGGAGGAG GAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGG AGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAG GAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAG GGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	300	0.0033	772	c.-70 others(781): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGAGGAGGAAGGGGAAGGGGGAGGAGGAAGGGG GGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAG TGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGG AGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGG AAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(765): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATG GGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAG CCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACG TACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGG GAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGG TGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCA GAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGG GTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGA TGGGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0080 a0001c0001t0036g0080	1	434	0.0023	772	c.513 others(787): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGGTGGGAGAGCTGGGGT GCGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAG CGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAG GGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTG GGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTC TGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACG GGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAG TGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACG TACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(765): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCA GAACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0203 a0002c0005t0002g0203	1	252	0.0040	772	c.-29 others(783): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTTCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(765): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02897.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0002 a0002c0009t0002 a0002c0005t0002 a0002c0009t0002	a0002c0005t0002g0201 a0002c0005t0002g0202 a0002c0009t0002g0025 a0002c0005t0002g0201 a0002c0005t0002g0202 a0002c0009t0002g0025	3	252	0.0119	772	c.-29 others(783): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(765): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0027 a0002c0009t0002g0027	1	252	0.0040	772	c.-29 others(783): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(765): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0100 a0002c0005t0002g0100	1	252	0.0040	772	c.-29 others(783): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(765): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03834.hp2 HG03710.hp1 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0050 a0002c0003t0002g0052 a0002c0003t0002g0050 a0002c0003t0002g0052	2	252	0.0079	772	c.-29 others(783): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTG GGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGG GTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(765): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGTAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0005 a0002c0009t0005	a0002c0009t0005g0024 a0002c0009t0005g0024	1	252	0.0040	772	c.-29 others(783): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTACAGTGTGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(765): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATAAATATATATAATTTTATATATATAATTTTATATAA ATATATATAATTATATATATTTATATATAAATATATATAATTATATATAT TTATATATAAATATATATAATTTTATATATATAATTTTATATAAATATAT ATAATTATATATATTTATATATAAATATATATAATTTTATATATAAATAT ATAATTTTATATATTTATATATAAATATATATATAATTTATATATAAATA TATAAAATTATATACAAATATATATAATTATATATAAATATATATAATTT ATATATAAATATGTATAATTTTATATATATAAATAGATATAATTTTATAT ATTTATTTATATAAATTTTATATATTTATATAAATAAATATATATTTATA TATAAAAATTTATATACAAATATATATAAATATATACAAATATATATATA AATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	116	0.0086	772	c.56- others(789): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATAAATATATATAATTT TATATATATAATTTTATATAAATATATATAATTATATATATTTATATATA AATATATATAATTATATATATTTATATATAAATATATATAATTTTATATA TATAATTTTATATAAATATATATAATTATATATATTTATATATAAATATA TATAATTTTATATATAAATATATAATTTTATATATTTATATATAAATATA TATATAATTTATATATAAATATATAAAATTATATACAAATATATATAATT ATATATAAATATATATAATTTATATATAAATATGTATAATTTTATATATA TAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTAT ATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAA ATATATACAAATATATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(765): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGG AGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGC AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0313 a0002c0026t0004g0313	1	344	0.0029	772	c.85- others(789): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC TTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCC CTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTT CCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AAGGGGGA others(765): Show AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGCAGGC AGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGG GAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0111 a0003c0111	a0003c0111t0001 a0003c0111t0001	a0003c0111t0001g0218 a0003c0111t0001g0218	1	344	0.0029	772	c.85- others(789): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCC TGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTC CTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTG CCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(765): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGG AAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCTA GGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGGGAAGATA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGGAC ACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGG AAGGCAGGACACCCTCCCTCCCACCTCCTAGGAAGGCAGGACACCCTCCC TCCCACCTCCCAGGAACGCAGGACACCCTCCCTCCCACCTCGAAGGCAGG ACAGCCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02132.hp1 HG00408.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0071 a0001c0003t0001g0050 a0001c0002t0002g0071 a0001c0003t0001g0050	2	167	0.0120	772	c.646 others(787): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCGTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGT CTTCCCGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTATCTTC CCGGGAGGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTC CTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAG GGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG GAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCT GCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(765): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGAC ACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCC CAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCC TCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGG CAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCT CCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGAC ACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGGG AAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGGACACCCTCCC TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGG ACAGCCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19086.hp1 HG03927.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0001 a0001c0002t0002 a0001c0007t0001	a0001c0002t0002g0103 a0001c0007t0001g0062 a0001c0002t0002g0103 a0001c0007t0001g0062	2	167	0.0120	772	c.646 others(787): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGA GGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGG AGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(765): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGG AGGGAGGGATGGAAGGATGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAG GGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGG ATGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAGGGAAGAATGGAGGGAG GGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGGAGGGAGGGAAGA ATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAGGGAAGAATGGAA GAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGAGTGGAAGAATGGAGAG AGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGTGGAAAAATGGAGGGAG CGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGAATGGAGGGAGGGAAGA ATGCAAGACTGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAAT GGAAGAATGGACGGAAGGAAGAGTGGAAGAATGGAGGGAGGGAGGGAGGG AGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0017 a0001c0001t0039g0017	1	126	0.0079	772	c.415 others(793): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATC CCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCC TCCCTCCCTCCCTCCATTCTTCCCTCCCTCCATCCTTCCATCCCTCCCTC CATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCGTCCT CCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCC CCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCC TCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTC CCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTDP1_chr18_79674803_79759503	79726845	G G	GCCATTGC others(765): Show GCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGG ACGGCTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGG GATGGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGC CGTTGCTGGTGGACGTCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGAC TGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTCAGGGTGG GGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATT GCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCT GTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGG TGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCCGTTGCTG GTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTGG GGGATGGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGAC GCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGT GGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGG GTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGC CATTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGAC GGCTGTGGGGGATGGGGGTGACA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0308 a0004c0004t0001g0308	1	378	0.0027	772	c.241 others(791): Show c.2418-2047_2418-2046insGGCTGTGGGGGTGGGGTGACGCCGTT GCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGACGG CTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGTGG GGTGACGCCGTTGCTGGTGGACGTCTGTGGGGGTGGGGTGACGCCGTTGC TGGTGGACTGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGT CAGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTG ACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGT GGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGG GGGTGGGGTGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGC CGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGAT GGCTGTGGGGGATGGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGGT GGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCA TTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGATGG CTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGG GGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGC TGGTGGACGGCTGTGGGGGATGGGGGTGACACCATTGCTGGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(765): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGAATGG GGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGGGGAGAGGGGGAGGGGAGGGGGAGGGGAGG GGGGGAGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGAGGGGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGGGGAGGGTGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGGAGGGGGGAGGGGGGAGGGGGGGGAGGGTGAGGGGGAGGGGGAGG GGGAGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0185 a0002c0002t0023g0185	1	216	0.0046	772	c.923 others(791): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCT CCCCCTCCCCCTCACCCTCCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCACCCTCCCCCCCTCCCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCCCTCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCTCCCCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCA TTCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DOK7_chr4_3458306_3499482	3476128	T T	TCATGATG others(765): Show TCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCACCCCACCCGC CCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCGT GATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATGA TGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCGTGA TGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTGA TGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATG CCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCACCCGCCCATGATG CCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCGTGATG ACCTCTCGCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCTGCCCATGA TGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCCTGCCCAT GATGCCCTCTCACCCCGCCTGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03486.hp2 HG02559.hp1 HG03486.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0015 a0004c0004t0006 a0004c0004t0015	a0004c0004t0006g0119 a0004c0004t0015g0120 a0004c0004t0006g0119 a0004c0004t0015g0120	2	404	0.0050	772	c.332 others(787): Show c.332-200_332-199insACCCCGCCTGCCCATGATGCCCTCACCCCA CCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCG CCCGTGATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCC CATGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCC CGTGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCC CGTGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCA TGATGCCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCACCCGCCCA TGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCG TGATGACCTCTCGCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCTGCC CATGATGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCCTG CCCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3476128	T T	TCATGATG others(765): Show TCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCACCCCACCCGC CCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGTCC ATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGT GATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGA TGCCCTCTCACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCGCCCGT GATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTGA TGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCGTGATG ACCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCACCCGCCCATGATG CCCTCTCACCCCACCCGCCCGTGATGACCTCACCCCACCCGCCCGTGATG ACCTCTCGCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCTGCCCATGA TGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCCTGCCCAT GATGCCCTCTCACCCCGCCTGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0219 a0003c0003t0004g0219	1	404	0.0025	772	c.332 others(787): Show c.332-200_332-199insACCCCGCCTGCCCATGATGCCCTCACCCCA CCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACC CGTCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCG CCCGTGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCC CATGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCG CCCGTGATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCC CGTGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCG TGATGACCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCACCCGCCCA TGATGCCCTCTCACCCCACCCGCCCGTGATGACCTCACCCCACCCGCCCG TGATGACCTCTCGCCCCGCCTGCCCGTGATGCCCTCTCACCCCACCTGCC CATGATGCCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCCTG CCCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(765): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCCGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCATGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAAGTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAA TCAATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTT TTGGATAAATCAGTTTTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01109.hp2 others(18): Show HG00673.hp2 HG00738.hp2 HG01109.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01978.hp2 HG02015.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG03098.hp2 HG03688.hp1 NA18951.hp2 NA18973.hp2 NA18977.hp2 NA18985.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0230 others(18): Show a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0005g0236 a0001c0002t0006g0028 a0001c0002t0006g0047	21	374	0.0562	772	c.-51 others(783): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CCGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCATGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAAGTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATGTCTATTTCCTGAGAATTGTTGGAAAGA AGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCCATTACTTTTCTTG CCTCTGAACTGGGTTTTGGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(765): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCC TCCCCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTT TCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCC CTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTC CCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCC CTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTC TTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCC TTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTC TCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCC TCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTC CCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTC CCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02622.hp1 others(1): Show HG01884.hp1 HG02280.hp2 HG02622.hp1 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0005 a0004c0012t0005 a0001c0001t0005 a0004c0012t0005	a0001c0001t0005g0046 a0001c0001t0005g0084 a0001c0001t0005g0097 others(1): Show a0001c0001t0005g0046 a0001c0001t0005g0084 a0001c0001t0005g0097 a0004c0012t0005g0014	4	138	0.0290	772	c.123 others(793): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTCCCC TCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTCTTC CCTTCCCCTCCCCTCCCCTTTTCCTCTCCTCCCGTCTCCTCCCTTCCCCT CTCTTCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGC CCCTCCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCC TCTTCCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTC CCTTCCCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCC TCCCCTCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTC TCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCC TCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCC CCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTT CTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(765): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATGTATATACATATATAT ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATATACATATAAATATATATGTATGTATAT TATATACATATAAATATATATGTATGTATATTATATACATATAAATATAT ATATTTATATACATATAAATATATATATTTATATACATATAAATATATAT ATTTATATACATATAAATATATATATTTATATACATATAAATATATATAT TTATATACATATAAATATATATATTTATATACATATAAATATATATATTT ATATACATATAAATATATATTTATATACATATAAATATATATTTATATAC ATATAAATATATATTTACATACATATAAATATATATTTACATACATATAA ATATATACATTTATATACATATAAATATATACATATATACATATAAATAT ATATTTATATACATATAAATATATATATTTATATATATTTATATATATAT AAATATATATATATTTATATATATATAAATATATATATATTTATATATAT ATAAATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	292	0.0034	772	c.51 others(783): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAATATACATACATATATATTTATATGTATATAATATACATACA TATATATTTATATGTATATACATATATATTTATATGTATATACATATATA TTTATATGTATATACATATATATTTATATGTATATACATATATATATGTA TATACATATATATGTATATACATATATATATATGTATATACATATATATA TGTATATACATATATATTTATATGTATATACATATATATTTATATGTATA TACATATATTTATATGTATATACATATATATTTATATGTATATAAATATA TATTTATATGCATATAAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(765): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCTCTCCCTCCCTCCCCT TCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCTC TCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTCC CTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCT CTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCC CCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTC TCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCT CTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCT CCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTT CTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTC CCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTC CTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCC TCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTC CCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCCCACCC TCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0129 a0002c0018t0002g0129	1	230	0.0044	772	c.126 others(789): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAG GGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGGAA AGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAG AGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGA GAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGA GGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGA GCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAG GGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGA GAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGA GAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAG AGAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAG GGTAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGG AGGGAGGGAGAGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAG GGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(765): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCTCTCCCTCCCTCCCCT TCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCTC TCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTCC CTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCT CTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCC CCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTC TCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCT CTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCT CCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTT CTCTCCCCCCTCTCCTTCTCCCCCCTCTCCCTCTCCCCCCGCCCTCTCTC CCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTC CTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCC TCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTC CCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCCCACCC TCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0183 a0002c0006t0002g0183	1	230	0.0044	772	c.126 others(789): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAG GGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGGAA AGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAG AGGGCGGGGGGAGAGGGAGAGGGGGGAGAAGGAGAGGGGGGAGAGAAGGA GAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGA GGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGA GCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAG GGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGA GAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGA GAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAG AGAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAG GGTAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGG AGGGAGGGAGAGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAG GGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
HNF4A_chr20_44350699_44437845	44404777	G G	GTGTTTGT others(765): Show GTGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTG TATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTA AGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACT GCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACT GTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTG CGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTG TGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGGACT GTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATG TGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCAC GTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTG TGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTG TGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTG TGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGGATTGTGTGGTGTGT GTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGTGTGTGGTGTGTGTG CCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGG ATTGTGTGGTGTGTGTGTGCGCA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	322	0.0031	772	c.50- others(787): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACT CTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGT GTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTG GACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACG TGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGT GCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGT GGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTT GTGTGTGGTGTGTGTGCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCT TGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCATGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44404778	T T	TGTTTGTT others(765): Show TGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTGT ATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAA GTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTG CTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTATGCGTGTGTGTGGACTG TGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGC GTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGT GGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGGACTG TGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGT GTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACG TGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGT GTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGT GTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGT GTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGGATTGTGTGGTGTGTG TGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGC CTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGA TTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0253 a0001c0001t0099g0253	1	322	0.0031	772	c.50- others(787): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTA TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACT CTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGT GTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTG GACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACG TGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGT GCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGT GGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTT GTGTGTGGTGTGTGTGCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCT TGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44404778	T T	TGTTTGTT others(765): Show TGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTGT ATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAA GTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTG CTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTG TGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGC GTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGT GGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGGACTG TGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGT GTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACG TGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGT GTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGT GTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGT GTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGGATTGTGTGGTGTGTG TGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGC CTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGA TTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(147): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0009 a0001c0012 others(5): Show a0001c0001 a0001c0009 a0001c0012 a0002c0002 a0003c0010 a0004c0006 a0007c0005 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0049 a0001c0001t0061 a0001c0001t0067 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0077 a0001c0001t0086 a0001c0001t0087 a0001c0001t0092 a0001c0001t0094 a0001c0001t0096 a0001c0001t0101 a0001c0009t0082 a0001c0012t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0003c0010t0093 a0004c0006t0023 a0007c0005t0025 a0008c0008t0005	a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0062 others(147): Show a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0212 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0302 a0001c0001t0001g0317 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0002g0192 a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0002g0306 a0001c0001t0003g0005 a0001c0001t0003g0027 a0001c0001t0003g0058 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0112 a0001c0001t0003g0217 a0001c0001t0003g0223 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0275 a0001c0001t0003g0285 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0301 a0001c0001t0004g0044 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0165 a0001c0001t0004g0167 a0001c0001t0004g0251 a0001c0001t0004g0258 a0001c0001t0004g0284 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0304 a0001c0001t0005g0041 a0001c0001t0005g0047 a0001c0001t0005g0050 a0001c0001t0005g0149 a0001c0001t0005g0199 a0001c0001t0005g0236 a0001c0001t0005g0294 a0001c0001t0006g0218 a0001c0001t0006g0249 a0001c0001t0007g0029 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0007g0130 a0001c0001t0008g0007 a0001c0001t0008g0067 a0001c0001t0009g0152 a0001c0001t0011g0069 a0001c0001t0011g0091 a0001c0001t0012g0187 a0001c0001t0012g0188 a0001c0001t0013g0019 a0001c0001t0013g0114 a0001c0001t0014g0087 a0001c0001t0014g0248 a0001c0001t0014g0283 a0001c0001t0015g0237 a0001c0001t0015g0238 a0001c0001t0015g0243 a0001c0001t0016g0293 a0001c0001t0018g0020 a0001c0001t0018g0210 a0001c0001t0019g0154 a0001c0001t0019g0161 a0001c0001t0019g0173 a0001c0001t0020g0048 a0001c0001t0020g0159 a0001c0001t0020g0244 a0001c0001t0021g0281 a0001c0001t0021g0282 a0001c0001t0021g0291 a0001c0001t0022g0056 a0001c0001t0023g0219 a0001c0001t0024g0194 a0001c0001t0024g0220 a0001c0001t0024g0292 a0001c0001t0025g0045 a0001c0001t0025g0230 a0001c0001t0026g0077 a0001c0001t0027g0010 a0001c0001t0027g0011 a0001c0001t0028g0233 a0001c0001t0030g0204 a0001c0001t0030g0205 a0001c0001t0033g0264 a0001c0001t0034g0198 a0001c0001t0036g0128 a0001c0001t0036g0280 a0001c0001t0039g0118 a0001c0001t0040g0146 a0001c0001t0049g0009 a0001c0001t0061g0256 a0001c0001t0067g0316 a0001c0001t0068g0179 a0001c0001t0072g0153 a0001c0001t0073g0140 a0001c0001t0075g0040 a0001c0001t0077g0093 a0001c0001t0086g0026 a0001c0001t0087g0313 a0001c0001t0092g0105 a0001c0001t0094g0102 a0001c0001t0096g0139 a0001c0001t0101g0079 a0001c0009t0082g0279 a0001c0012t0008g0006 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0245 a0002c0002t0002g0078 a0002c0002t0004g0181 a0003c0010t0093g0147 a0004c0006t0023g0107 a0007c0005t0025g0037 a0008c0008t0005g0262	150	322	0.4658	772	c.50- others(787): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACT CTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGT GTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTG GACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACG TGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGT GCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGT GGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTT GTGTGTGGTGTGTGTGCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCT TGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFFO2_chr1_18899280_18961676	18925848	A A	ATTGGTTG others(765): Show ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGCTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATAGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	376	0.0027	772	c.666 others(789): Show c.666-4728_666-4727insACCAATCCATCCATCCATCTATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA GCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925848	A A	ATTGGTTG others(765): Show ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGCTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	376	0.0027	772	c.666 others(789): Show c.666-4728_666-4727insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA GCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322329	T T	TGGAATAT others(765): Show TGGAATATATATATGCAGTATATATATATGAATATATATATGGAATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATATGTGGA ATATATATATGGAATATATATATATGTGGAATATATATATGGAATATATA TATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATA TATGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACAT GGAATATGTGTATATGGAATATATACATGGAATATATATATGGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATATATATGGAATATATACATGGAATATATATATA TGGAATATATACATGGAATATATATATATGGAATATATACATGGAATATA TATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAA TATATACATGGAATATATACATGGAACATATACATGGAATATATACATGG AACATATACATGGAATATATATATATGGAACATATACGGAATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	323	0.0031	772	c.-27 others(783): Show c.-2727_-2726insGGAATATATATATGCAGTATATATATATGAATAT ATATATGGAATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATGGAATATATACATGGAATATATGTATATGGAA TATATACATGGAATATATGTATATGGAATATATACATGGAATATGTGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATGGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATACATGGAATATATACATGGAACATATACAT GGAATATATACATGGAACATATACATGGAATATATATATATGGAACATAT ACGGAATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2640		chr21	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(765): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAG GAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0065 a0001c0005t0065	a0001c0005t0065g0153 a0001c0005t0065g0153	1	386	0.0026	772	c.-46 others(783): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTCCCTC CTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTC CTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCT CCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCT CCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCT CCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTC CTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTC CTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTC CTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTC CTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCT CCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATT CTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCT TCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(765): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGG TCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	375	0.0027	772	c.-22 others(783): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAA TCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAAT CTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(765): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATAATATATAATATATAATATATATTATATATATTATATTATATAT TATATATATAATATATTATATATTATATATATATTATATAATATATTATA TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATTATATATATTATATATTATATATTATATTTTATATATA TTATATATTATATATACAATTATATATATTATATATATTATATATTATAT ATATTATATATTATATAATATATTATATATAATATATATTATATATTATA TATTATATAATATATATATAATATATTATATATTATATATTATATAATAT ATTATATATAATATATATTATATATTATATATTATATAATATATAATATA TAATATATATTATATATATATTATATAATATATTATATATATAATATATT ATATAATATATTATATATATAATATATATTATATATAATATATATAATTG TATATATAATATATAATATATAATATATAATATATATAATATATAATATA TAATATATATAATATATAATATATAATATATAATATATATAATATATAAT ATATAATATATAATATATAATATATAAAATATATATATAAAATATATTAT GTATTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	86	0.0116	772	c.683 others(791): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT TATATATTATATATATAATATATTATATATTATATATATATTATATAATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATATTATATATTATATATTATATTTT ATATATATTATATATTATATATACAATTATATATATTATATATATTATAT ATTATATATATTATATATTATATAATATATTATATATAATATATATTATA TATTATATATTATATAATATATATATAATATATTATATATTATATATTAT ATAATATATTATATATAATATATATTATATATTATATATTATATAATATA TAATATATAATATATATTATATATATATTATATAATATATTATATATATA ATATATTATATAATATATTATATATATAATATATATTATATATAATATAT ATAATTGTATATATAATATATAATATATAATATATAATATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATATAAT ATATAATATATAATATATAATATATAATATATAAAATATATATATAAAAT ATATTATGTATTATATATTATATAATATATTATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LYPD8_chr1_248734415_248760759	248752491	T T	TCACCCTC others(765): Show TCACCCTCCACACACACCAAACACCCCACACAACACACACACACCACACC ACACAAACACAAACACACCACATCATGAACACACACATCACACACACACC ACACACCCCACACACCCCACACACACCACACACACACACCACACACCCCA CACAACACACACCACACCACACACACCACACCACACACACACCACACCCC ACAACACACACACACCACACTCCCCACTGAACACACACACACCACACACC CCACACACACCACACACCCCACACAACACACACCACACACACACCACACC CCACAACACACACACATCACATCACACACACCACACCACACAAACACAAA CACACCACATCATGAACACACACATCACACACACACCACACACCCCACAC ACCCCACACACATCACACACACACACCACACACCCCACACAACACACAAC ACACACCACACACACCACACCACACACACACCACACCCCACAACACACAC ACACCACACTCCCCACTGAACACACACACATCACACACACCACACACCCC ACACACACCACACACCCCACACAACACACACCACACCACACACACACCAC ACCACACCCCACAACACACACACAACACACAACACACCACACCACACACA CACCACACCCCACACACAACACACACAACACAACACACACACCCCACACA CAAACACCCCACACACCACACACACCACATCACACACACACACCACATCA CACCCCACACAACACACACACCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19030.hp1 NA19240.hp2 HG02970.hp2 NA19030.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272	3	374	0.0080	772	c.-49 others(789): Show c.-49-1362_-49-1361insTGGTGTGTGTGTTGTGTGGGGTGTGATG TGGTGTGTGTGTGTGATGTGGTGTGTGTGGTGTGTGGGGTGTTTGTGTGT GGGGTGTGTGTGTTGTGTTGTGTGTGTTGTGTGTGGGGTGTGGTGTGTGT GTGGTGTGGTGTGTTGTGTGTTGTGTGTGTGTTGTGGGGTGTGGTGTGGT GTGTGTGTGGTGTGGTGTGTGTTGTGTGGGGTGTGTGGTGTGTGTGGGGT GTGTGGTGTGTGTGATGTGTGTGTGTTCAGTGGGGAGTGTGGTGTGTGTG TGTTGTGGGGTGTGGTGTGTGTGTGGTGTGGTGTGTGTGGTGTGTGTTGT GTGTTGTGTGGGGTGTGTGGTGTGTGTGTGTGATGTGTGTGGGGTGTGTG GGGTGTGTGGTGTGTGTGTGATGTGTGTGTTCATGATGTGGTGTGTTTGT GTTTGTGTGGTGTGGTGTGTGTGATGTGATGTGTGTGTGTTGTGGGGTGT GGTGTGTGTGTGGTGTGTGTTGTGTGGGGTGTGTGGTGTGTGTGGGGTGT GTGGTGTGTGTGTGTTCAGTGGGGAGTGTGGTGTGTGTGTGTTGTGGGGT GTGGTGTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTTGTGTGGGG TGTGTGGTGTGTGTGTGTGGTGTGTGTGGGGTGTGTGGGGTGTGTGGTGT GTGTGTGATGTGTGTGTTCATGATGTGGTGTGTTTGTGTTTGTGTGGTGT GGTGTGTGTGTGTTGTGTGGGGTGTTTGGTGTGTGTGGAGGGTG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248752497	C C	TCCACACA others(765): Show TCCACACACACCAAACACCCCACACAACACACACACACCACACCACACAA ACACAAACACACCACATCATGAACACACACATCACACACACACCACACAC CCCACACACCCCACACACACCACACACACACACCACACACCCCACACAAC ACACACCACACCACACACACCACACCACACACACACCACACCCCACAACA CACACACACCACACTCCCCACTGAACACACACACACCACACACCCCACAC ACACCACACACCCCACACAACACACACCACACACACACCACACCCCACAA CACACACACATCACATCACACACACCACACCACACAAACACAAACACACC ACATCATGAACACACACATCACACACACACCACACACCCCACACACCCCA CACACATCACACACACACACCACACACCCCACACAACACACAACACACAC CACACACACCACACCACACACACACCACACCCCACAACACACACACACCA CACTCCCCACTGAACACACACACATCACACACACCACACACCCCACACAC ACCACACACCCCACACAACACACACCACACCACACACACACCACACCACA CCCCACAACACACACACAACACACAACACACCACACCACACACACACCAC ACCCCACACACAACACACACAACACAACACACACACCCCACACACAAACA CCCCACACACCACACACACCACATCACACACACACACCACATCACACCCC ACACAACACACACACCACACCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0269 a0002c0002t0003g0269	1	374	0.0027	772	c.-49 others(789): Show c.-49-1367_-49-1366insGGGTGTGGTGTGTGTGTTGTGTGGGGTG TGATGTGGTGTGTGTGTGTGATGTGGTGTGTGTGGTGTGTGGGGTGTTTG TGTGTGGGGTGTGTGTGTTGTGTTGTGTGTGTTGTGTGTGGGGTGTGGTG TGTGTGTGGTGTGGTGTGTTGTGTGTTGTGTGTGTGTTGTGGGGTGTGGT GTGGTGTGTGTGTGGTGTGGTGTGTGTTGTGTGGGGTGTGTGGTGTGTGT GGGGTGTGTGGTGTGTGTGATGTGTGTGTGTTCAGTGGGGAGTGTGGTGT GTGTGTGTTGTGGGGTGTGGTGTGTGTGTGGTGTGGTGTGTGTGGTGTGT GTTGTGTGTTGTGTGGGGTGTGTGGTGTGTGTGTGTGATGTGTGTGGGGT GTGTGGGGTGTGTGGTGTGTGTGTGATGTGTGTGTTCATGATGTGGTGTG TTTGTGTTTGTGTGGTGTGGTGTGTGTGATGTGATGTGTGTGTGTTGTGG GGTGTGGTGTGTGTGTGGTGTGTGTTGTGTGGGGTGTGTGGTGTGTGTGG GGTGTGTGGTGTGTGTGTGTTCAGTGGGGAGTGTGGTGTGTGTGTGTTGT GGGGTGTGGTGTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTTGTG TGGGGTGTGTGGTGTGTGTGTGTGGTGTGTGTGGGGTGTGTGGGGTGTGT GGTGTGTGTGTGATGTGTGTGTTCATGATGTGGTGTGTTTGTGTTTGTGT GGTGTGGTGTGTGTGTGTTGTGTGGGGTGTTTGGTGTGTGTGGA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6			chr1	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(765): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCACCTC CCTCCCGGAAGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCCCACCTCCCAGCAGGGGCGGCTGGGCAGAGGCGCCC CCCACCCCCCGGACGGGGCGGCCGGCCGTGGGGGCTAACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCTG GCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCGGGCG GGGGCTGACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0043 a0002c0003t0001g0043	1	334	0.0030	772	c.-28 others(791): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGCCCCCGC CCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTTAGCCCCCACGGCCGGCCGCCCCGTCCGGGGGGTGGGGGG CGCCTCTGCCCAGCCGCCCCTGCTGGGAGGTGGGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCTTCCGGGAGGGAG GTGGGGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(765): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCTC CCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTT CCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCTTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCC CCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCT CCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTC CCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTC CCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCT CCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCC CCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCA CCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCC TCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0013 a0001c0011t0013	a0001c0011t0013g0180 a0001c0011t0013g0180	1	278	0.0036	772	c.115 others(789): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCC CTCCCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCC CTTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC TTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCC CCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCC CTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCC CTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCC CCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTT GCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCC CCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTC CCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFATC1_chr18_79390930_79534323	79494355	G G	GCCCCCCA others(765): Show GCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAGAACGGGCACACGCCC CCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCGGGCACACGCCCCCCA TCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC AACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAA CCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTG GTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGT GTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTAC CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTACCG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTGGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATCGACCTGGTGTGGCCG GGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGG GGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTGGCCGGGGG GAAGGCGAGAGCGGGCACACGCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0019 a0003c0007t0008g0019	1	322	0.0031	772	c.278 others(791): Show c.2782+7427_2782+7428insAACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAGA ACGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCGG GCACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC AACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATCG ACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGAC CTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCT GGTGTGGCCGGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCCATC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NXN_chr17_794310_984776	952366	T T	TGGGGGGG others(765): Show TGGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAC AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGATGG TCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGG TCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTG TGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG CTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTC ACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	242	0.0041	772	c.360 others(791): Show c.360+26952_360+26953insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCT CTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAG TGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCC CAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTT GGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCA TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(765): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATGCATATGCATATGTGTGTATATATACATAT ATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATAT GTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATACATGTATATGCATGTGTGTATATATACATATACATGTATATGC ATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATAT ACATATACATGTATATGCATATGTGTGTATATATACACATATACATGTAT ATGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGT ATACATATACATATATATGCATATATGTGTATACATATACATATATATGC ATATATGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGT GTATATATACACATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	456	0.0022	772	c.31 others(783): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATGCATATGCATATGTG TGTATATATACATATATATGCATATGCATATGTGTGTATATATACATATA TATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGTATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATACATGTATATGCATGTGTGTATATATACA TATACATGTATATGCATATGTGTGTATATATACATATACATGTATATGCA TATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATA CACATATACATGTATATGCATATGTGTGTATATATACACATATACATGTA TATGCATATGTGTGTATACATATACATATATATGCATATATGTGTATACA TATACATATATATGCATATATGTGTATATATACACATATATATGTGTGTG TATATATATGTGTGTGTATATATACACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(765): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTT CCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCC CTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCC TCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTT CCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCC CCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTTCCCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0131 a0001c0002t0030g0131	1	178	0.0056	772	c.773 others(787): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCC CTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCC CTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(765): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	250	0.0040	772	c.309 others(791): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R2D_chr10_131896008_131964834	131916697	A A	ACAGTGTT others(765): Show ACAGTGTTTGTAGGGACCTCACGCAGGTGGAATGACACAACGTTTGTAGG GACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGTGGGTGGAA TGACACAGTGTAGGGACCTCACGTGGGTGGAATGACACAGTGTAGGGACC TCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCACACGGGTGGAA TGACACAGTGTTTGCAGGGACCTCACGTGGGTGGAATGACACAGTGTAGG GACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAA TGACACAGTGTAGGGACCTCAGGTGGGCGGGATGACACAGTGTTTGTAGG GACCTCAGGTGGGCGGGATGACACAGTGTTTGTAGGGACCTCAGGCGGGT GGGATGACACAGTGTAGGGACCTCATGCGGGTGGAATGACAGTGTTTGTA GGGACCTCAGGCGGGTGGAATGGCAGTGTTTGTAGGGACCTCAGGCGGGT GGAATGACACAGTGTAGGGACCTCAGGCAGGTGGGATGACACAGTGTTTG TAGGGACCTCAGGCGGGTGGAGTGACACAGTGTTTGTAGGGACCTCACGT GGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGGATGACACAGTG TAGGGATCTCACGTGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGC GAGTGGAATGACAGTGTAGGGACCTCACGGGGGTGGAATGACACAGTGTA GGGACCTCACATGGGTAGAAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0258 a0001c0001t0081g0258	1	394	0.0025	772	c.100 others(791): Show c.100+15369_100+15370insGTGTTTGTAGGGACCTCACGCAGGTG GAATGACACAACGTTTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGT AGGGACCTCAGGTGGGTGGAATGACACAGTGTAGGGACCTCACGTGGGTG GAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGT AGGGACCTCACACGGGTGGAATGACACAGTGTTTGCAGGGACCTCACGTG GGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGT AGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGTGGGCG GGATGACACAGTGTTTGTAGGGACCTCAGGTGGGCGGGATGACACAGTGT TTGTAGGGACCTCAGGCGGGTGGGATGACACAGTGTAGGGACCTCATGCG GGTGGAATGACAGTGTTTGTAGGGACCTCAGGCGGGTGGAATGGCAGTGT TTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGCA GGTGGGATGACACAGTGTTTGTAGGGACCTCAGGCGGGTGGAGTGACACA GTGTTTGTAGGGACCTCACGTGGGTGGAATGACACAGTGTAGGGACCTCA GGCGGGTGGGATGACACAGTGTAGGGATCTCACGTGGGTGGAATGACACA GTGTTTGTAGGGACCTCAGGCGAGTGGAATGACAGTGTAGGGACCTCACG GGGGTGGAATGACACAGTGTAGGGACCTCACATGGGTAGAAGGGCA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(765): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATAATATGTAATACACA ATATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACATTATACATTATTATA TAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATAT ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGCATATAATATATAATACATAATACATTATATATAAGCATATAACAA TACATAATACATTATATATAAGCATATAACAATACATAGTACATTATATA TAAGCATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp2 HG01891.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0211 a0001c0001t0011g0212 a0001c0001t0002g0211 a0001c0001t0011g0212	2	220	0.0091	772	c.24+ others(789): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATAATATGTAATACACAATATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACATTATACATTATTATATAAGTATATGTAATACATTATACATTATT ATATAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAA TATATATTATACATTATTATATAAGCATATAATATATAATACATAATACA TTATATATAAGCATATAACAATACATAATACATTATATATAAGCATATAA CAATACATAGTACATTATATATAAGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(765): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	308	0.0033	772	c.-75 others(791): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATAAA CTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTA TAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATA TTTATAAACTAAATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RYR2_chr1_237037184_237838988	237449619	A A	ATGAAGGA others(765): Show ATGAAGGACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTA ATGTGTCATCTAGCATTAGTATATCTCCCAATGCTATCCCTCCCCCCTCC CCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCA TGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTT GGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCA TCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAG TATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGT TGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAA TAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTT GGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTC TAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTT TACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTC CAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGT GAGATGATATCTCATAGTGGTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0017 a0001c0042t0017	a0001c0042t0017g0050 a0001c0042t0017g0050	1	100	0.0100	772	c.129 others(791): Show c.1292+4112_1292+4113insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGC ACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAATGCTATCCCTC CCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCC TGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATG CGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTC CAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGG CTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCT ATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAG TGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTAT ACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATT TCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG AACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGC ATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTA ACTGGTGTGAGATGATATCTCATAGTGGTTTTGAAGGACTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	14/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(765): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGA GGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0214	1	384	0.0026	772	c.157 others(791): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGT GGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(765): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAG GAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0038 a0008c0013t0001g0038	1	350	0.0029	772	c.624 others(787): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTC CCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCTTCCTTTCTC CCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTC TCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTC CTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCC TCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCC CCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCT CCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCT CCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTC CCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCC CCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTC TATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTT TCCTTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAT others(765): Show ATATATATAATATACCTATTATATATATAATATACCTATTATATATATAA TATACCTATTATATATAATATACCTATTATATATAAAATATACCTATTAT ATATAATATACCTATTATATACATTATATATAATATACCTATTATATGCA TTATATATAATATACCTATTATATGCATTATATATAATATACCTATTATA TGCATTATATATAATATACCTATTATATGCATTATATATAATATACCTAT TATATGCATTATATATAATATACCTATTATATGCATTATATATAATATAC CTATTATATGCATTATATATAATATACCTATTATATGCATTATATAATAT ATTATATATAATATGCATATTATATGTATTATATATTATATATTATATAT ATAATATACATATTATATGTATTATATATAATATATTATATATATAATAT ACATATTATATGTATTATATATTATATATAATATACATATTATATATTAT ATATTATATACATATTATATATTATATATTATATACATATTATATATTAT ATATTATATACATATTATATATTATATACATATTATATATTATATATTAT ATATTATATACATATTATATATTATATATTATATACATATTATACATTAT ATATATCTAAAATATATAATACACATTATATATTATATAATACACATTAT ATATTATATATAATACACATTATATATTATATATAATACACATTATATAT TATATATAATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0243 a0001c0004t0004g0243	1	360	0.0028	772	c.62 others(783): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATATAA TATATAATATGTATATAATATATAATATGTATATAATATATAATATATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATATAA TATGTATATTATATATAATATATAATACATATAATATGTATATTATATAT ATAATATATTATATATAATACATATAATATGTATATTATATATATAATAT ATAATATATAATACATATAATATGCATATTATATATAATATATTATATAA TGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATAT ATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATT ATATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTA TATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATA GGTATATTATATATAATGTATATAATAGGTATATTATATATAATAGGTAT ATTTTATATATAATAGGTATATTATATATAATAGGTATATTATATATATA ATAGGTATATTATATATATAATAGGTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(765): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	314	0.0032	772	c.189 others(787): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157311463	G G	GCCTCATC others(765): Show GCCTCATCACAGTGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTC CCAGTGTTCGCTCACCTAGCCTGATCATAGTCCCCCAGTGTGCACTCACG TGGCCTCATCATACTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTG TCCCAGTGAGCACTCAACGGGCCTAATCATAGTGTCCCAGTGTCCGCTTA CCTAGCCTCACCATAGTGGCCCAGTATCCGATCACCTACATTCATCATAT TGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTGTGTGCT CATCTAGCCTCATCATAGTGTCCCAGTGTGCCCTCACCTAGCCTCATCAT AGTATCCCAGTGTGCACTCACCTAGCCTCATGATAGTGTACCAGTGTGCA CTAACCTAGCCTCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATC ATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTC CGCTCACCTGGCCTCATCATAGTGCACGAGTGTGCGCTCACCTACCCTCA TCATACTGCCCCAGTGTGCTCTCACGTAGCCTCGTCATAGTGTCTCAGTG TGGGCTCATCTAGCCTCATCATAGGGTCCCAGTGTGCGCTCACCTGGCCT CATCATAGTGCGCCAGTGTGCGCTCATCAAGCCTCATCATAGTGCTCCAG TGTGCGCTCACCAGGCCTCATCACTGTCCCAATGGGCGCTCACCTGGCCT CATCATAGTGTGCGCTCACCTAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02293.hp1 HG01261.hp1 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0055 a0001c0004t0009g0056 a0001c0004t0009g0055 a0001c0004t0009g0056	2	344	0.0058	772	c.327 others(789): Show c.327+7318_327+7319insGTAGGTGAGCGCACACTATGATGAGGCC AGGTGAGCGCCCATTGGGACAGTGATGAGGCCTGGTGAGCGCACACTGGA GCACTATGATGAGGCTTGATGAGCGCACACTGGCGCACTATGATGAGGCC AGGTGAGCGCACACTGGGACCCTATGATGAGGCTAGATGAGCCCACACTG AGACACTATGACGAGGCTACGTGAGAGCACACTGGGGCAGTATGATGAGG GTAGGTGAGCGCACACTCGTGCACTATGATGAGGCCAGGTGAGCGGACAC TGGGACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGA GGCTAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTTAGTGCAC ACTGGTACACTATCATGAGGCTAGGTGAGTGCACACTGGGATACTATGAT GAGGCTAGGTGAGGGCACACTGGGACACTATGATGAGGCTAGATGAGCAC ACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGGACAATATG ATGAATGTAGGTGATCGGATACTGGGCCACTATGGTGAGGCTAGGTAAGC GGACACTGGGACACTATGATTAGGCCCGTTGAGTGCTCACTGGGACACTA TGATGAGGCCAGGTGAGTGCACACTGGGACAGTATGATGAGGCCACGTGA GTGCACACTGGGGGACTATGATCAGGCTAGGTGAGCGAACACTGGGACAC TATGATGAGGCTAGGTTAGCGCATACTGGGACACTGTGATGAGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar

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