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
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	82	0.0122	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03669.hp2 NA19030.hp2 HG02257.hp2 HG03669.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0078 a0001c0001t0005 a0001c0001t0078	a0001c0001t0005g0165 a0001c0001t0005g0216 a0001c0001t0078g0096 a0001c0001t0005g0165 a0001c0001t0005g0216 a0001c0001t0078g0096	3	84	0.0357	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0142 a0001c0001t0077g0142	1	82	0.0122	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	82	0.0122	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA18960.hp1 NA18961.hp1 HG03688.hp1 NA18960.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0005 a0001c0001t0004 a0001c0009t0005	a0001c0001t0004g0036 a0001c0001t0004g0092 a0001c0009t0005g0163 a0001c0001t0004g0036 a0001c0001t0004g0092 a0001c0009t0005g0163	3	84	0.0357	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	82	0.0122	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTAAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(705): Show TCTGCTCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTT CCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCT CCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCCCCTCTCCCCT CCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCT CCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0038 a0002c0008t0001g0038	1	4	0.2500	712	c.114 others(731): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCCCTCCCCTCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCT CTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCT CCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCC CCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTC CTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCC CATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(705): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG03492.hp1 HG01081.hp2 HG01255.hp2 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0022 a0001c0004 a0001c0006 a0001c0022	a0001c0004t0001 a0001c0006t0001 a0001c0022t0001 a0001c0004t0001 a0001c0006t0001 a0001c0022t0001	a0001c0004t0001g0229 a0001c0006t0001g0245 a0001c0022t0001g0246 a0001c0004t0001g0229 a0001c0006t0001g0245 a0001c0022t0001g0246	3	61	0.0492	712	c.241 others(731): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(705): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0147 a0001c0004t0001g0147	1	59	0.0169	712	c.241 others(731): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(705): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGC CCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0119 a0001c0006t0001g0119	1	59	0.0169	712	c.241 others(731): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCCGCAGG others(705): Show TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCTGC AGGCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	247	0.0040	712	c.-33 others(723): Show c.-3315_-3314insCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAA CCCAGGGACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG AACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCTCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993520	C C	CCCCTCCC others(705): Show CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0109 a0001c0001t0016g0109	1	336	0.0030	712	c.56 others(723): Show c.5607_*5608insCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4892		chr19	TogoVar
ODF3_chr11_191761_205258	196508	A A	ACCTGGTG others(705): Show ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	380	0.0026	712	c.-54 others(721): Show c.-547_-546insCCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGAC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		252		chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	182	0.0055	712	c.-26 others(723): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	712	c.-26 others(723): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	712	c.-26 others(723): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	712	c.-26 others(723): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(705): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGA CACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG CGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGT GTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	304	0.0033	712	c.-19 others(733): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCG AGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGT GAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(705): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGA CACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG CGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGT GTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0033	1	304	0.0033	712	c.-19 others(733): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCG AGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGT GAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(705): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCACCATCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCATCACCACCACCACCATCATCACCACCA TCACCACCAGCACCACCACTATCAACATCACCATCACCACCATCATCATC ACCACCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCAC CACCACCAACATCATCATCATCACCATCACCACCACCATCACCACCACCA CCACCATCAACACCACCATCACCACCACCATCATCATCACCACCACCACC ATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0026 a0002c0021t0026	a0002c0021t0026g0300 a0002c0021t0026g0300	1	140	0.0071	712	c.48 others(723): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGT GATGTTGATAGTGGTGGTGCTGGTGGTGATGGTGGTGATGATGGTGGTGG TGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTG ATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGATG GTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATG GTGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGT GGTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGC TGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATG GTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG GTGATGGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTG GTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGT GTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(705): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0217 a0001c0001t0007g0217	1	140	0.0071	712	c.309 others(731): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(705): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	269	0.0037	712	c.126 others(731): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RFC1_chr4_39282456_39371362	39348470	A A	AAAAGAAA others(705): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	260	0.0038	712	c.132 others(729): Show c.132+2877_132+2878insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(705): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	287	0.0035	712	c.-8- others(729): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCAT CCCATCCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCACATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCA TCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCC CATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCATC CCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCA TCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCC ACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTCA TTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCC CATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(705): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATAGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGG ATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19030.hp2 HG02451.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0003g0008 a0001c0001t0001g0009 a0001c0001t0003g0008	2	288	0.0069	712	c.-8- others(729): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCA TCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCA CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCTATCCACATCCCT TTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCC CATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACA TCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTC CATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RTN1_chr14_59590983_59875776	59750553	A A	ATATATCT others(705): Show ATATATCTATAATATATATATCTATAATATATAATATATCTATAATATAT ATATCTATAATATATAATATATCTATAATATATATATCTATAATATATAA TATATCTATAATATATATATCTATAATATATAATATATCTATAATATATA TATCTATAATATATAATATATCTATAATATATATATTATATCTATAATAT ATAATATATCTATAATATATATAATATATCTATAATATATATATTATATC TATAATATATAATATATCTATAATATATATATTATATCTATAATATATAA TATATCTATAATATATAATATATCTATAATATATATATTATAGATATAAT ATATAATATATCTATAATATATATATTATATATAATATATAATATATTAT ATATAATATATAATATATTATATATATAATATATAATATATTATATCTAT AATATATTATATGTAATATATATATGTTATATCTATAATATATATTATAT CTATAATATATAATATATTATATCTATAAATATAATATATTATATCTATA ATATATTATATATTATATCTATAATATATAATATATTATATCTATAAATA TAATATATTATATCTATAATATATAATATATTATAATATATATATTATAT CTATAAATATAATATATATTATATCTATAATATATATATTATATCTATAA ATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0018 a0003c0004t0001g0018	1	105	0.0095	712	c.242 others(729): Show c.242-4073_242-4072insATATATATTATATTTATAGATATAATAT ATATATTATAGATATAATATATATTATATTTATAGATATAATATATATAT TATAATATATTATATATTATAGATATAATATATTATATTTATAGATATAA TATATTATATATTATAGATATAATATATAATATATTATAGATATAATATA TTATATTTATAGATATAATATATTATATATTATAGATATAATATATATTA TAGATATAACATATATATATTACATATAATATATTATAGATATAATATAT TATATATTATATATATAATATATTATATATTATATATAATATATTATATA TTATATATAATATATATATTATAGATATATTATATATTATATCTATAATA TATATATTATAGATATATTATATATTATAGATATATTATATATTATAGAT ATAATATATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATTATATATATTATAGATATATTATATATTATAGATATAA TATATATATTATAGATATATTATATATTATAGATATATATATTATAGATA TATTATATATTATAGATATATATATTATAGATATATTATATATTATAGAT ATATATATTATAGATATATTATATATTATAGATATATATATTATAGATAT ATTATATATTATAGATATATATATTATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SCGB1C1_chr11_188078_199575	196508	A A	ACCTGGTG others(705): Show ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	347	0.0029	712	c.20 others(723): Show c.2058_*2059insCCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1934		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTATCC others(705): Show TTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCCCACTCTCCTCATT CTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATTGCTTCAACCCTCCCCCCACTCTCCTCATTCTAT CCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCC CCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCA CAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGC ATCACTCCAGCCCTCCCCCACTCTCCTCATTCTACCCCCCCCAAGCATAG CTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTC CAACCCTCCCCCCACTCTCCTCATTCTACCCCCACCACAAGCATAGCTCC AACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCA ACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACC CTCCCCCCACTCTCCTCATTCTACCCCCACCACAAGCATAGCTCCAACCC TCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCT CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCC CTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0252 a0002c0027t0001g0252	1	122	0.0082	712	c.89- others(725): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTG TGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGT GGTGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTG GGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGG GGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGTGG GGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGG ATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAG AATGAGGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGTGA GGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGA GAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGTAGAATGAGGAGAGT GGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGATAGAATGAGGAGAGTGGG GGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGG GAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGA GGGTTGGAGCGATGCTTGTGGGGGGATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	4083690	T T	TTCCCTCC others(705): Show TTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTTCCTTCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCTCTCCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0049 a0001c0061 a0001c0049 a0001c0061	a0001c0049t0036 a0001c0061t0031 a0001c0049t0036 a0001c0061t0031	a0001c0049t0036g0109 a0001c0061t0031g0100 a0001c0049t0036g0109 a0001c0061t0031g0100	2	116	0.0172	712	c.332 others(731): Show c.3324+4149_3324+4150insCTTCTTTACTTCCTCCCTCCCTCCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCTT TACTTCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACT TCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCC AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0171 a0001c0002t0005g0171	1	127	0.0079	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCC AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	127	0.0079	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCC AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0147 a0001c0001t0040g0147	1	127	0.0079	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCT AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG03471.hp2 others(1): Show HG01884.hp1 HG02809.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0037 a0001c0001t0021 a0001c0001t0022 a0001c0001t0037	a0001c0001t0021g0158 a0001c0001t0022g0155 a0001c0001t0022g0156 others(1): Show a0001c0001t0021g0158 a0001c0001t0022g0155 a0001c0001t0022g0156 a0001c0001t0037g0339	4	130	0.0308	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCTAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SNED1_chr2_240993618_241100568	241052693	G G	GCCAAGCA others(705): Show GCCAAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGAGATGGCCGGG GGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGCCA GGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCC AGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGC CAGGGGGCCAAGCAGGGTATATGGGATACCAGTGCCAGGCAGGTGAGAGG GCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGA GGGCCGGGGGGCCAAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGA GATGGCCGGGGGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGT GAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGG TGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAG GTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGC AGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACATGGGATACCAGTGCCA GGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCC AGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGC CAGGCAGGTGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02155.hp1 HG02165.hp1 others(2): Show HG00621.hp2 HG02155.hp1 HG02165.hp1 NA18954.hp2 NA19062.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0003 a0019c0062 a0001c0001 a0002c0003 a0019c0062	a0001c0001t0002 a0002c0003t0010 a0002c0003t0013 others(1): Show a0001c0001t0002 a0002c0003t0010 a0002c0003t0013 a0019c0062t0005	a0001c0001t0002g0252 a0002c0003t0010g0260 a0002c0003t0013g0049 others(2): Show a0001c0001t0002g0252 a0002c0003t0010g0260 a0002c0003t0013g0049 a0002c0003t0013g0263 a0019c0062t0005g0262	5	337	0.0148	712	c.208 others(729): Show c.2083+225_2083+226insCCAAGCAGGGTACATGGGACACCAGTGC GAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATGGGATACCAGT GCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAG TGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCA GTGCCAGGCAGGTGAGAGGGCCAGGGGGCCAAGCAGGGTATATGGGATAC CAGTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGAC ACCGGTGTCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGG ACACCAGTGCGAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATG GGATACCAGTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACAT GGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACA TGGGATACCAGTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTA CATGGGACACCGGTGTCAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGG GTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAG GGTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCA GGGTACATGGGATACCAGTGCCAGGCAGGTGAGA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
TAC1_chr7_97727086_97745472	97745310	A A	AAAATAAA others(705): Show AAAATAAAGGGATATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTC CTTTGGGTATATACCCAGTAATGGGATGGCTGGGCCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGGGGG AGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGT GCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAAT GTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAGAAAGGA AAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02559.hp1 HG03516.hp2 others(1): Show HG00639.hp1 HG02559.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0013 a0001c0001t0001g0007 a0001c0001t0002g0013	4	413	0.0097	712	c.53 others(723): Show c.5390_*5391insAAATAAAGGGATATTGTTCAATTCCCACCTATGA GTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGC CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAGAAAGGAAAAAAAAAAAAAT	TAC1	ENSG00000006128.12	transcript	ENST00000319273.10	protein_coding		4839		chr7	TogoVar
TAC1_chr7_97727086_97745472	97745310	A A	AAAATAAA others(705): Show AAAATAAAGGGATATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTC CTTTGGGTATATACCCAGTAATGGGATGGCTGGGCCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGGGGG AGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGT GCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAAT GTGCACATGTACTCTAAAACTTAGAGTATAATAAAAAAAAAAAGAAAGGA AAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18963.hp1 NA18980.hp1 others(4): Show NA18955.hp2 NA18963.hp1 NA18980.hp1 NA18982.hp1 NA18989.hp2 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	7	416	0.0168	712	c.53 others(723): Show c.5390_*5391insAAATAAAGGGATATTGTTCAATTCCCACCTATGA GTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGC CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACTCTAAAACTTAGAGTATAATAAA AAAAAAAAGAAAGGAAAAAAAAAAAAAT	TAC1	ENSG00000006128.12	transcript	ENST00000319273.10	protein_coding		4839		chr7	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(705): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	36	0.0278	712	c.62+ others(727): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGCGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCTGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp1 HG02630.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0020 a0001c0001t0013 a0001c0001t0020	a0001c0001t0013g0070 a0001c0001t0020g0005 a0001c0001t0013g0070 a0001c0001t0020g0005	2	17	0.1176	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACAGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGG CAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCGCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCTGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19043.hp1 HG02897.hp1 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0048 a0008c0016t0021 a0001c0001t0048 a0008c0016t0021	a0001c0001t0048g0075 a0008c0016t0021g0006 a0001c0001t0048g0075 a0008c0016t0021g0006	2	17	0.1176	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACAGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGG CAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(11): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG02559.hp1 HG02723.hp1 HG03225.hp1 HG03669.hp1 HG03710.hp2 HG04204.hp2 NA18964.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0021 a0001c0034 a0001c0037 a0001c0046	a0001c0001t0001 a0001c0001t0013 a0001c0001t0042 others(9): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0042 a0001c0001t0056 a0001c0002t0002 a0001c0002t0003 a0001c0002t0045 a0001c0005t0002 a0001c0021t0002 a0001c0034t0017 a0001c0037t0039 a0001c0046t0058	a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0013g0061 others(11): Show a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0013g0061 a0001c0001t0042g0048 a0001c0001t0056g0082 a0001c0002t0002g0036 a0001c0002t0003g0055 a0001c0002t0003g0059 a0001c0002t0045g0058 a0001c0005t0002g0041 a0001c0021t0002g0033 a0001c0034t0017g0089 a0001c0037t0039g0019 a0001c0046t0058g0088	14	29	0.4828	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGG CAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCCCAGACGGGGCGGCTGCCGGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC TGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	16	0.0625	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCCGGG CAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCCCAGACGGGGCGGCTGCCGGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGACTGGGAGGTGGGGAGTGCCTCTGCCCGGCCGCCC CGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0019 a0001c0024t0019	a0001c0024t0019g0001 a0001c0024t0019g0001	1	16	0.0625	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGG CAGAGGCACTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCCCAGACGGGGCGGCTGCCGGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879335	G G	ACCTCTGC others(705): Show ACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCTGGC AGCCGCCCTGTCTGCGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCT GGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAG CGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGG CCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGG GAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCG CCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCC GCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGA GGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCC TCTGCCCGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGC CCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGG AGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGC CTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCG CCCTGTCTGAGAGGTGAGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGG GATGTGAGGAGCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0004 a0004	a0004c0044 a0004c0045 a0004c0044 a0004c0045	a0004c0044t0030 a0004c0045t0044 a0004c0044t0030 a0004c0045t0044	a0004c0044t0030g0025 a0004c0045t0044g0071 a0004c0044t0030g0025 a0004c0045t0044g0071	2	85	0.0235	712	c.108 others(733): Show c.1084+10450_1084+10451insGCTCCTCACATCCCAGACAGGGCG GCTGCCAGGCAGAGGCGCTCCTCACCTCTCAGACAGGGCGGCCGGGCAGA GGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACC TCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGC GGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCGGCCGGGCAG AGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGCGCTCCCCAC CTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGG CGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAG GCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCT CCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCGCAGACAGGGCGGCTGCCAGGCAGAGG CGCTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1273498	C C	CAACCGCC others(705): Show CAACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGA CCGATCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACTGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	115	0.0087	712	c.228 others(731): Show c.2287-1219_2287-1218insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTAGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(705): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATATATATAATACACATTATATATTATATATAATACACATTATATAT TATATATAATATACATTATATATTATATAATACACATTATATATTATATA TAATACACATTATATATATAATACACATAATTATATTATATATAATACAT AATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	82	0.0122	712	c.62 others(723): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATAAT TATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATA TAATATATAATGTGTATTATATATATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATGTATATA ATATATAATATATATGTATATTATATATAATATATAATACATATAATATG TATATTATATATAATATATAATATATAATACATATAATATGTATATTATA TATATAATATATAATATATAATACATATAATATGCATATTATATATAATA TATTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGG TATATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAA TAGGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTAT ATATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(705): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATATACATTATATATTATATAATACACATTATATATTATAT ATAATACACATTATATATATAATACACATTATATATTATATATAATACAT AATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00639.hp2 others(52): Show HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01496.hp1 HG01981.hp1 HG02004.hp2 HG02071.hp2 HG02083.hp2 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02922.hp2 HG03017.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19012.hp1 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp1 NA19089.hp1 NA19090.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0026 a0001c0028 a0005c0010	a0001c0001t0002 a0001c0002t0002 a0001c0002t0015 others(7): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0007t0002 a0001c0026t0002 a0001c0028t0002 a0005c0010t0002	a0001c0001t0002g0052 a0001c0001t0002g0162 a0001c0001t0002g0212 others(52): Show a0001c0001t0002g0052 a0001c0001t0002g0162 a0001c0001t0002g0212 a0001c0002t0002g0031 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0124 a0001c0002t0002g0127 a0001c0002t0002g0150 a0001c0002t0002g0173 a0001c0002t0002g0178 a0001c0002t0002g0191 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0261 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0272 a0001c0002t0002g0280 a0001c0002t0002g0292 a0001c0002t0015g0116 a0001c0002t0016g0282 a0001c0002t0017g0205 a0001c0002t0018g0065 a0001c0007t0002g0070 a0001c0007t0002g0269 a0001c0007t0002g0270 a0001c0007t0002g0271 a0001c0026t0002g0186 a0001c0028t0002g0112 a0005c0010t0002g0268	55	136	0.4044	712	c.62 others(723): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATGTATATA ATATATAATATATATGTATATTATATATAATATATAATACATATAATATG TATATTATATATAATATATAATATATAATACATATAATATGTATATTATA TATATAATATATAATATATAATACATATAATATGCATATTATATATAATA TATTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGG TATATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAA TAGGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTAT ATATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMEM242_chr6_157284025_157328519	157313189	C C	CGGCCTCA others(705): Show CGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGACTCATCATAATG CCCCAGTATCCGCTCACCTAGCCTCATCATAGTTTCCCAGTGAGCGCTCA CCCGGCCTCATCATACTGCCCACTCTGCGCTCACCCGGCATCATCATAGT GTCCCACTGTGCGCTCACCTGGCCACATCATACTGTCCCAGTGTGCGCTC ACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCATA GTGCCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGCCCCAGTGTGCAT TCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTCATTA TAGTGTCCCAGTGTGCGCTCACCCGACCTCATCATAGTGCCCCAGTGTGC ACTCAGGTACCTCATCATAGTGTCCCAGTGTGCACTCACCCGGCCTCCTC ATAGTGTTCCAGTGTGCGCTCACCCAGCCTCGTCATAGTGCCCCAGTGCT CGCTCACCTGGCCTCATCATAGTGTCCCAGAGTGCACTCACCTGGCCTCA TCATAGTGTCCCAGTGTGCGCTAACCTAGCGTTATCATAGTGTCCCAGTG TCCGCTCACATAGCCTCATCATAGTGCCCCAGTGTACACTCACCTAGCCT CATCGTAGTGCCCGAGTGTGCACTCACCTAGACTCATCATAGTGCACCAG TGTGCACTCACCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp2 HG03516.hp1 HG02895.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	3	142	0.0211	712	c.327 others(729): Show c.327+5592_327+5593insAGGTGAGTGCACACTGGTGCACTATGAT GAGTCTAGGTGAGTGCACACTCGGGCACTACGATGAGGCTAGGTGAGTGT ACACTGGGGCACTATGATGAGGCTATGTGAGCGGACACTGGGACACTATG ATAACGCTAGGTTAGCGCACACTGGGACACTATGATGAGGCCAGGTGAGT GCACTCTGGGACACTATGATGAGGCCAGGTGAGCGAGCACTGGGGCACTA TGACGAGGCTGGGTGAGCGCACACTGGAACACTATGAGGAGGCCGGGTGA GTGCACACTGGGACACTATGATGAGGTACCTGAGTGCACACTGGGGCACT ATGATGAGGTCGGGTGAGCGCACACTGGGACACTATAATGAGGCTAGGTG AGTGCACACTGGGGCACTATGATGAGGCTAGGTGAATGCACACTGGGGCA CTATGATGAGGCCAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGG TGAGCGCACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGA CAGTATGATGTGGCCAGGTGAGCGCACAGTGGGACACTATGATGATGCCG GGTGAGCGCAGAGTGGGCAGTATGATGAGGCCGGGTGAGCGCTCACTGGG AAACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATTATGATGAGTCT AGGTGAGTGCACACTGGGACACTATGATGAGGCC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TP53AIP1_chr11_128930370_128947871	128930879	G G	GGTTAGGG others(705): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGGTTAG GGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGA CCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGG GTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	456	0.0022	712	c.47 others(723): Show c.4711_*4712insTGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGC CTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTTCC TAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCC TGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4490		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(705): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18953.hp2 NA19002.hp2 NA18948.hp1 NA18953.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	151	0.0199	712	c.28 others(723): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870836	C C	CCCACACA others(705): Show CCCACACACCACCACACCCCCACACACCCCACACCCCACACACACCACAC CCCCACACCCACCACACCCCACCACACACCACACCCACACACACCCCACC CCACACCCCACCCCCCACCCCCCCCCCCCCCCCCCCCCACCACCACCACC CCCCACACACCCCACACACCCCACACACCCCACACCCCACACACCCACAC CCCACACACACCACCCACCCCCACACACACCACACACCCCACACACACCC CACACCCCCACACACACCACACCCCCCACACACACCACACCCCATACACA CCACACCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCACACAC CACACCCCACACACACCACACACCGCACACACACCACACCCCATACACAC CACACACCCCACACACACCACACACCCCACACACACCACACACCCCACAC ACACCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACACACCACACCCCACACACACCACACCCCACAC ACCCCACACACACCACACACCCCACACACACCACACACACCACACACCCC ACACACACCACACACACCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACACCACACCCCACACACACC ACACACACCACAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	278	0.0036	712	c.35 others(731): Show c.35+22105_*35+22106insACACACCACCACACCCCCACACACCC CACACCCCACACACACCACACCCCCACACCCACCACACCCCACCACACAC CACACCCACACACACCCCACCCCACACCCCACCCCCCACCCCCCCCCCCC CCCCCCCCCACCACCACCACCCCCCACACACCCCACACACCCCACACACC CCACACCCCACACACCCACACCCCACACACACCACCCACCCCCACACACA CCACACACCCCACACACACCCCACACCCCCACACACACCACACCCCCCAC ACACACCACACCCCATACACACCACACCCCCCCCCCCCCCCCCCCCCCCC ACCCCCCCCCCCCCCACACACCACACCCCACACACACCACACACCGCACA CACACCACACCCCATACACACCACACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACACCACACCC CACACACACCACACCCCACACACCCCACACACACCACACACCCCACACAC ACCACACACACCACACACCCCACACACACCACACACACCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACACCACACCCCACACACACCACACACACCACAGCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar

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