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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LYRM9_chr17_27873358_27898365	27887133	G G	GGAAGGTG others(623): Show GGAAGGTGGTTTTATCCCAAGAAACGTGGTATGGTATGCCAATCCAGCCA TAAGGTCAGGAGAGAATTTTTGATCTGCAGTCCACACAGGTTCCTTCTCC TTTTTCTCCTTTTCATCTCTTTTTCTTCTTTTCTCTTTCTCATTCAATCT TTAACTTGTCTAGTCTTCATTTATCATATTTTAAATTAGTGAAAACTCTT TCAGCTTAGATAAGCCTTATTTTATTTGTCCTCAGCACATTGTTGGTAGG ATTTGAGAAGTGAAAACTCCTTTTTAAAGGTGCTTGAGATAAAAATGTTA AGGCCGGGCCAGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCCG AAGCAGGAGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATA GGAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCCGGGTATGGTGACT CGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGCGAATCACTTG AACCCGGGAGGTGGAGATTGCGTGAGCAGAGATCGCACCACTGCGCTCCA GCTTGGGCAAGAGAGTAAGACTTTGTCTCAAAAAAAAAAAAAAAAATCTT CAGGTAGCAAAATTCTGAGGTCTGCCATTCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18947.hp2 NA18957.hp1 others(7): Show HG02083.hp2 NA18947.hp2 NA18957.hp1 NA18966.hp1 NA18967.hp2 NA18986.hp1 NA18998.hp1 NA19001.hp2 NA19007.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128	10	392	0.0255	630	c.-18 others(647): Show c.-18-4422_-18-4421insTGAATGGCAGACCTCAGAATTTTGCTAC CTGAAGATTTTTTTTTTTTTTTTTGAGACAAAGTCTTACTCTCTTGCCCA AGCTGGAGCGCAGTGGTGCGATCTCTGCTCACGCAATCTCCACCTCCCGG GTTCAAGTGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGC ACGAGTCACCATACCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTT TCCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCTCCTG CTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCTGGCCCGG CCTTAACATTTTTATCTCAAGCACCTTTAAAAAGGAGTTTTCACTTCTCA AATCCTACCAACAATGTGCTGAGGACAAATAAAATAAGGCTTATCTAAGC TGAAAGAGTTTTCACTAATTTAAAATATGATAAATGAAGACTAGACAAGT TAAAGATTGAATGAGAAAGAGAAAAGAAGAAAAAGAGATGAAAAGGAGAA AAAGGAGAAGGAACCTGTGTGGACTGCAGATCAAAAATTCTCTCCTGACC TTATGGCTGGATTGGCATACCATACCACGTTTCTTGGGATAAAACCACCT TC		LYRM9	ENSG00000232859.10	transcript	ENST00000379102.8	protein_coding	1/3						chr17	TogoVar
MAGEC1_chrX_141898894_141914374	141905995	A A	ACTCCAGA others(623): Show ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTT TCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAG TCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAG TCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC CCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTA TTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTC CTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCC TCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp2 HG03225.hp1 NA19043.hp1 HG02559.hp2 HG03225.hp1 NA19043.hp1	a0021 a0021	a0021c0018 a0021c0018	a0021c0018t0001 a0021c0018t0001	a0021c0018t0001g0002 a0021c0018t0001g0002	3	354	0.0085	630	c.661 others(637): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCC ACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCGCTCCTTCT CCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(643): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerThr PheGluGlyPheProGlnSerProLeuGlnIleProValSerSerSerSe rSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGlnS erThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerArg SerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583360	G G	GCAGCCAC others(623): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCACAGCCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0023 a0004c0004t0002g0023	1	251	0.0040	630	c.377 others(647): Show c.377-3432_377-3431insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(623): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	247	0.0040	630	c.377 others(647): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(623): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0002 a0006c0010t0001g0002	1	210	0.0048	630	c.26 others(641): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(623): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCTCCCC TCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCTCCCCTCCCCCC TCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCC CTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTT CCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCC CCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCC CTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCC CTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCC CTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCC TTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACC TCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTC CCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18522.hp1 HG02615.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0028 a0002c0002 a0002c0028	a0002c0002t0004 a0002c0028t0004 a0002c0002t0004 a0002c0028t0004	a0002c0002t0004g0240 a0002c0028t0004g0061 a0002c0002t0004g0240 a0002c0028t0004g0061	2	9	0.2222	630	c.115 others(647): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCTC CCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCTCCCCTCCC CCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTT CCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCC CTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCC TCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCT CCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCT CCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCC TCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGC CCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCC ACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCC CTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCC CC		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17876950	G G	GGTTAGGG others(623): Show GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGT TATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTATGGCA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0240 a0002c0003t0004g0240	1	260	0.0038	630	c.224 others(649): Show c.2242-4928_2242-4927insTGCCATAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCAT AACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCT CCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTA ACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTC CATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877261	G G	GGGAGGTT others(623): Show GGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGATTAGGGAGCTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTAT GGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGG TTACGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	237	0.0042	630	c.224 others(649): Show c.2242-5239_2242-5238insATAACTTCCCTAACCTCCATAACCTC CGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAA CCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCT CCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCTA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAAGCTCCCTAATCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(623): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGGGGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAGA GGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGAGGGAAGG GAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGGAGGGGA GGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAG GGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGA GGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0007 a0003c0003t0007g0007	1	8	0.1250	630	c.250 others(645): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTCCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTT CCCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCTTTCCCCCCA CCCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCCGCCCCTTTT CCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(623): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	168	0.0060	630	c.394 others(645): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17						chr4	TogoVar
MUC4_chr3_195741771_195816929	195775382	G G	GTACCTTC others(623): Show GTACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACAGTCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCA CACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACGGCC ATACCTTCCACAGTCATACCTTCCACGGCCATACCTTCCACGGCCATACC TTCCACAGTCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACC TTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACGGCCATACCTTCCACAGTCATACCTTCCA CACCCATACCTTCCACGGCCATACCTTCCACAGTCATACCTTCCACGGCC ATACCTTCCACACCCATACCTTCCACACCCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0066 a0066	a0066c0118 a0066c0118	a0066c0118t0004 a0066c0118t0004	a0066c0118t0004g0229 a0066c0118t0004g0229	1	188	0.0053	630	c.129 others(651): Show c.12944-1078_12944-1077insTGGGTGTGGAAGGTATGGGTGTGG AAGGTATGGCCGTGGAAGGTATGACTGTGGAAGGTATGGCCGTGGAAGGT ATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGCCGTGGAAGGTATGGG TGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGG AAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGT ATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGG TGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGG AAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGT ATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGAC TGTGGAAGGTATGGCCGTGGAAGGTATGGCCGTGGAAGGTATGACTGTGG AAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGT ATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGG TGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGG AAGGTA		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(623): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18959.hp1 NA19010.hp1 others(1): Show NA18950.hp2 NA18959.hp1 NA19010.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0014 a0003c0003t0001 a0003c0003t0004 a0003c0003t0014	a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0004g0084 others(1): Show a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0004g0084 a0003c0003t0014g0079	4	159	0.0252	630	c.358 others(647): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATAT AT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(623): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATA TATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0082 a0003c0003t0001g0082	1	156	0.0064	630	c.358 others(647): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT GTATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATAT AT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(623): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTC CCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCC CTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTT CCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCT CCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCCC TCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCTTCCTCCCTCTCTCC CTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTCCCTCCTTCCTTT CCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	18	0.0556	630	c.153 others(647): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAG GGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGAGG GAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAG GGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGA GGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGG AAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAG AGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGGAA GG		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24						chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(623): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGC ACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCC CCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCA GGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCC TGCCTCATGACCAGGCCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	4	0.2500	630	c.238 others(647): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA CATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGG GGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCA TGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGA CGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGG CA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(623): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATCTGCCCTGC ACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCC CCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCA GGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCC TGCCTCATGACCAGGCCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	4	0.2500	630	c.238 others(647): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA GATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGG GGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCA TGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGA CGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGG CA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NEU4_chr2_241804193_241822413	241819462	C C	CTCATGTG others(623): Show CTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGCTGCTGGG CTGCATTCCTGCTCCTCGTGCCCGTGTGTCTGGCTCGTGTGCGTGTGTCA GGTCCGTCAGTGTGGGTGCATCCTGTCATGCTGTGTGTCTGTGCGTGGCG TGTAGGTCCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCTCGGCTCTG GTGTGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTG CTCTGTGGTGTGTAGGCTCGTGTGCTGGTGTCAGTCTGCTGTGTGTCTGC TCGTGGTCAGGCGTGTGTCAGGTCGTTGCTGGGTGCTGTCCTGTCATGCG TGTGTGCCTGCCTCTCTGGCTGTGTGTCGTAGTTGTGTGCTGGGTGCATC CTCTTGCATGTGTCGTGGCTCATGGCCCGTGTGTAGGTCGTGTGCTGGGT GCATCCTGTCATGCGTGTGTCCTGCTGTGGTGTGTGTGTAGGTTGTGTGC TGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGT GTGTGCTGGGTGCATCTGTCATGCGTGTGTCATGCGTGTGTCTGCTCGTG CGTGTAGTGTGTGTGTGCTGGGTGCATCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0007 a0006c0011t0007	a0006c0011t0007g0011 a0006c0011t0007g0011	1	311	0.0032	630	c.24 others(641): Show c.2414_*2415insTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGCTGCTGGGCTGCATTCCTGCTCCTCGTGCCCGTGTGTCTGGCT CGTGTGCGTGTGTCAGGTCCGTCAGTGTGGGTGCATCCTGTCATGCTGTG TGTCTGTGCGTGGCGTGTAGGTCCGTGTGCTGGGTGCATCCTGTCATGCG TGTGTCTCGGCTCTGGTGTGTGTGTAGGTCGTGTGCTGGGTGCATCCTGT CATGCGTGTGTCCTGCTCTGTGGTGTGTAGGCTCGTGTGCTGGTGTCAGT CTGCTGTGTGTCTGCTCGTGGTCAGGCGTGTGTCAGGTCGTTGCTGGGTG CTGTCCTGTCATGCGTGTGTGCCTGCCTCTCTGGCTGTGTGTCGTAGTTG TGTGCTGGGTGCATCCTCTTGCATGTGTCGTGGCTCATGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCTGTGGTGTGT GTGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGT GGCCCGTGTGTAGGTGTGTGCTGGGTGCATCTGTCATGCGTGTGTCATGC GTGTGTCTGCTCGTGCGTGTAGTGTGTGTGTGCTGGGTGCATCCTG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2050		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(623): Show CTGTATATATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT ATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATGTA TACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATA CCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACC GTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGT ATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACAT ACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACA CAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0236 a0001c0003t0005g0236	1	118	0.0085	630	c.-75 others(649): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCAT GCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATA TACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACATACAGTATACATACATA CAGTATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTG TACATAGTATACATGCTGTACATATATACAGTATACATGCTGTACATATA TACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NKX1-1_chr4_1397932_1411442	1398013	G G	GGTAGATC others(623): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG AGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	351	0.0028	630	c.49 others(641): Show c.4918_*4919insTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAGCACCCTGCATCCAACCTGATCTACTCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4918		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398033	G G	GGGTGTTT others(623): Show GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAGTAG ATCAGGTTGGATGCCGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATACAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	630	c.48 others(641): Show c.4898_*4899insTGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGTATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAGCACCCGGCATCCAACCTGATCTA CTCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4898		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398488	T T	TTTTCAGG others(623): Show TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATACAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG03486.hp1 HG02896.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	348	0.0057	630	c.44 others(641): Show c.4443_*4444insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGTATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4443		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398488	T T	TTTTCAGG others(623): Show TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATACAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	347	0.0029	630	c.44 others(641): Show c.4443_*4444insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGTATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4443		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398533	T T	TTTTCGGG others(623): Show TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG CTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCTGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03710.hp2 HG02735.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	346	0.0058	630	c.43 others(641): Show c.4398_*4399insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAGCACCCAGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAGCAC CCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4398		chr4	TogoVar
NPIPB5_chr16_22505891_22541535	22534548	T T	TTCCACCC others(623): Show TTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCC GAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGAC ACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAG CAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCA CCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCC CCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTG CCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAG ACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTC AGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTC CACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACT GCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCT GCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCG AGCGTCAGCTCACTCCCCTTCCACCCTCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00323.hp1	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0009 a0006c0022t0001g0009	1	33	0.0303	630	c.157 others(639): Show c.1577_1578insTCCACCCTCAGCAGATGATAATATCAAGACACCTGC CGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGA CACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCA GCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCC ACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTC CCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCT GCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAA GACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCT CAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTT CCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCAC TGCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTC TGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCC GAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(643): Show p.Ala526_Asp527insProProSerAlaAspAspAsnIleLysThrPr oAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuL ysThrProSerGluArgGlnLeuThrProLeuProProSerAlaProPro SerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgGlyProLe uProProSerAlaAspAspAsnLeuLysThrProSerGluArgGlnLeuT hrProLeuProProSerAlaProProSerAlaAspAspAsnIleLysThr ProAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLe uLysThrProSerGluArgGlnLeuThrProLeuProProSerAlaProP roSerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgGlyPro LeuProProSerAlaAspAspAsnLeuLysThrProSerGluArgGlnLe uThrAlaLeuProProSerAlaAspAspAsnIleLysThrProAlaGluA rgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuLysThrPro SerGluArgGlnLeuThrProLeuProProSerAlaProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4489/6463	1578/3402	526/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(623): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	8	0.1250	630	c.175 others(651): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTT		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NRDC_chr1_51784210_51883727	51852549	A A	ATAGTTTT others(623): Show ATAGTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATAT AGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATAT ATAGTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTATATAG TTTTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATA TAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATA GTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTT TATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAG TTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTA AACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGT TTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGT TTATATTTTTTATATAGTTTAAACTATATAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02572.hp2 others(4): Show HG02451.hp1 HG02559.hp2 HG02572.hp2 HG03195.hp1 HG03471.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0090 a0001c0002t0001g0091 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094	7	238	0.0294	630	c.342 others(649): Show c.342-12036_342-12035insCTATATAGTTTAAACTATATAAAAAA TATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAGT TTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTATA TAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTT TAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACT ACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTT AAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAA AACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTT TAAAACTATATAAACTATATAGTTTAAAACTATATAAACTATATAGTTTT AAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTAAA ACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTA AAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAA ACTA		NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30						chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(623): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02056.hp1 HG02083.hp1 others(3): Show HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02300.hp1 NA18943.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0020g0094	6	64	0.0938	630	c.155 others(649): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(623): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	59	0.0169	630	c.155 others(649): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(623): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0026 a0003c0005t0001g0026	1	59	0.0169	630	c.155 others(649): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(623): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCGCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0057 a0057	a0057c0146 a0057c0146	a0057c0146t0002 a0057c0146t0002	a0057c0146t0002g0034 a0057c0146t0002g0034	1	148	0.0068	630	c.292 others(645): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCGCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(623): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTG TCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0168 a0001c0028t0001g0168	1	148	0.0068	630	c.292 others(645): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCTCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RX5_chr17_3668227_3701155	3680695	G G	GTCCTCCA others(623): Show GTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCCTCCA CCCTGCGTCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGT CCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACC CTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCTGCATCC TCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACCCT GCATCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGTCCTC CACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCAGC GTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCCTCCA CCCAGTGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCAT CCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCTGCGTCCTCCACC CAGCGTCCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCC TCCACCCTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCT GCATCCTCCACCCTGCGTCCTCCACCCTGCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19009.hp2 HG02155.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0154 a0002c0002t0001g0159 a0001c0001t0001g0154 a0002c0002t0001g0159	2	277	0.0072	630	c.106 others(647): Show c.1065-912_1065-911insTGCAGGGTGGAGGACGCAGGGTGGAGGA TGCAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGGAGGATGCAGGGT GGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACG CTGGGTGGAGGACGCAGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGG AGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGACACT GGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAG GACGCTGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGG GTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGA TGCAGGGTGGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGT GGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGGAGGATG CAGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGG AGGACACTGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGACGCA GGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAG GA		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11						chr17	TogoVar
PDCD6_chr5_266646_319974	293374	A A	ATGTCAGA others(623): Show ATGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGG GAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGA CGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACG AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGA AGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAAC GCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATC AAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATA CTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGG GAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGA CGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACG AGGCACTGGGAGCTGCAAACGCCCGCGATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	323	0.0031	630	c.164 others(649): Show c.164-10794_164-10793insCGGAGAAAGGTATGACAGGAAGAGCA GATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGC GATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAG ACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCA GAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAG CACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGA AAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCAC TGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGAC AGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGC AAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCA GATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGC GATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAG ACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCA GAGA		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
POTED_chr21_13604777_13650823	13650339	G G	GAGAGGAA others(623): Show GAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTGTGCATTGTTAACAAA ATTAAATATGTAAAGAAAGCACTACATAAAATTTTAATTATTCCTTTTAT TTCTTCCTTTTCTCTTCCTCCTCAGTTTCATAGTCATGTATATTTTTCTC AGAGGCCCAGTGCTTCTCAGTAATCCTGCGATGTTTTTCCTTTTTTTCAC CATTACTGCCTATAAATTTTAGAAGATGGAGAAAGCTAAAATCATGTAGG GTGAGTCCCCATCCCTGGAGGCATTCCTTTGTTGCTTTGGACTCAGATGC AGATCGTTGAGTGAATCATAACACTGGGCTTGGCGCAGGATAGCCTTTAG AGTACAAGTCTCCCTTTTTGCTTTGTTTTACTCTATTTTCTCCTCACATG TTTTGTTTCCCATATGGAGCAGAGGCCTGAGGAAAAGCAGATGGCACTGG GGCTCTACCTCTAGGGTAGAAGAACTGATGTACCCCGACTGGCTGCGAGT GAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACACCCTTGCAGAGGTGGC TGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGCATGCACAAGCCTCAG CACAACAGTGGTCCCACAAATGGAGCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	164	0.0061	630	c.87 others(641): Show c.8773_*8774insAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTG TGCATTGTTAACAAAATTAAATATGTAAAGAAAGCACTACATAAAATTTT AATTATTCCTTTTATTTCTTCCTTTTCTCTTCCTCCTCAGTTTCATAGTC ATGTATATTTTTCTCAGAGGCCCAGTGCTTCTCAGTAATCCTGCGATGTT TTTCCTTTTTTTCACCATTACTGCCTATAAATTTTAGAAGATGGAGAAAG CTAAAATCATGTAGGGTGAGTCCCCATCCCTGGAGGCATTCCTTTGTTGC TTTGGACTCAGATGCAGATCGTTGAGTGAATCATAACACTGGGCTTGGCG CAGGATAGCCTTTAGAGTACAAGTCTCCCTTTTTGCTTTGTTTTACTCTA TTTTCTCCTCACATGTTTTGTTTCCCATATGGAGCAGAGGCCTGAGGAAA AGCAGATGGCACTGGGGCTCTACCTCTAGGGTAGAAGAACTGATGTACCC CGACTGGCTGCGAGTGAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACAC CCTTGCAGAGGTGGCTGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGC ATGCACAAGCCTCAGCACAACAGTGGTCCCACAAATGGAGCCACAT		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					4517		chr21	TogoVar
POTED_chr21_13604777_13650823	13650339	G G	GAGAGGAA others(623): Show GAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTGTGCGCTGCCTTTGGG GCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTGCAGCCTTCTTCGTTG CAAAGAGGCAGACCACAGGCCATCCTGAGGAGGACTTGATGTTCAAGTGC AGAAAGCAGGCAGGATTACCACCTAGGGGACTCTGCCCTGGACAGAGAGA AAATTTGGGCCAAAGCAGAACAATCTCACTCAGAGCAGCATGTCGGTAGC TGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGACTCAAAGAGCAACCAG CCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAGCAGCCACCAACCTCA CCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCACAGCCTGCATGGCTGC GTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAAAGCAGATGGCACTGG GGCTCTACCTCTAGGGTAGAAAAACTGATGTACCCCGACTGGCTGCGAGT GAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACACCCTTGCAGAGGTGGC TGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGCATGCACAAGCCTCAG CACAACAGTGGTCCCACAAATGGAGCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00558.hp2 others(55): Show HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG03239.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA19001.hp2 NA19003.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19075.hp1 NA19076.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20905.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0014	a0001c0001 a0003c0004 a0011c0014 others(1): Show a0001c0001 a0003c0004 a0011c0014 a0014c0016	a0001c0001t0001 a0001c0001t0032 a0003c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0032 a0003c0004t0001 a0011c0014t0001 a0014c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0018 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0032g0029 a0003c0004t0001g0140 a0011c0014t0001g0054 a0014c0016t0001g0163	58	221	0.2624	630	c.87 others(641): Show c.8773_*8774insAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTG TGCGCTGCCTTTGGGGCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTG CAGCCTTCTTCGTTGCAAAGAGGCAGACCACAGGCCATCCTGAGGAGGAC TTGATGTTCAAGTGCAGAAAGCAGGCAGGATTACCACCTAGGGGACTCTG CCCTGGACAGAGAGAAAATTTGGGCCAAAGCAGAACAATCTCACTCAGAG CAGCATGTCGGTAGCTGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGAC TCAAAGAGCAACCAGCCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAG CAGCCACCAACCTCACCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCAC AGCCTGCATGGCTGCGTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAA AGCAGATGGCACTGGGGCTCTACCTCTAGGGTAGAAAAACTGATGTACCC CGACTGGCTGCGAGTGAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACAC CCTTGCAGAGGTGGCTGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGC ATGCACAAGCCTCAGCACAACAGTGGTCCCACAAATGGAGCCACAT		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					4517		chr21	TogoVar
POTED_chr21_13604777_13650823	13650339	G G	GAGAGGAA others(623): Show GAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTGTGCGCTGCCTTTGGG GCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTGCAGCCTTCTTCGTTG CAAAGAGGCAGACCACAGGCCATCCTGAGGAGGACTTGATGTTCAAGTGC AGAAAGCAGGCAGGATTACCACCTAGGGGACTCTGCCCTGGACAGAGAGA AAATTTGGGCCAAAGCAGAACAATCTCACTCAGAGCAGCATGTCGGTAGC TGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGACTCAAAGAGCAACCAG CCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAGCAGCCACCAACCTCA CCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCACAGCCTGCATGGCTGC GTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAAAGCAGATGGCACTGG GGCTCTACCTCTAGGGTAGAAAAACTGATGTACCCCGACTGGCTGCGAGT GAGGTTGGTGGCTGGTTCACCTGCTCCTGGCACACCCTTGCAGAGGTGGC TGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGCATGCACAAGCCTCAG CACAACAGTGGTCCCACAAATGGAGCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA18991.hp1 NA19090.hp2 HG00609.hp1 NA18991.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	3	166	0.0181	630	c.87 others(641): Show c.8773_*8774insAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTG TGCGCTGCCTTTGGGGCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTG CAGCCTTCTTCGTTGCAAAGAGGCAGACCACAGGCCATCCTGAGGAGGAC TTGATGTTCAAGTGCAGAAAGCAGGCAGGATTACCACCTAGGGGACTCTG CCCTGGACAGAGAGAAAATTTGGGCCAAAGCAGAACAATCTCACTCAGAG CAGCATGTCGGTAGCTGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGAC TCAAAGAGCAACCAGCCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAG CAGCCACCAACCTCACCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCAC AGCCTGCATGGCTGCGTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAA AGCAGATGGCACTGGGGCTCTACCTCTAGGGTAGAAAAACTGATGTACCC CGACTGGCTGCGAGTGAGGTTGGTGGCTGGTTCACCTGCTCCTGGCACAC CCTTGCAGAGGTGGCTGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGC ATGCACAAGCCTCAGCACAACAGTGGTCCCACAAATGGAGCCACAT		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					4517		chr21	TogoVar
POTED_chr21_13604777_13650823	13650339	G G	GAGAGGAA others(623): Show GAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTGTGCGCTGCCTTTGGG GCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTGCAGCCTTCTTCGTTG CAAAGAGGCAGACCACAGGCCATCCTGAGGAGGACTTGATGTTCAAGTGC AGAAAGCAGGCAGGATTACCACCTAGGGGACTCTGCCCTGGACAGAGAGA AAATTTGGGCCAAAGCAGAACAATCTCACTCAGAGCAGCATGTCGGTAGC TGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGACTCAAAGAGCAACCAG CCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAGCAGCCACCAACCTCA CCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCACAGCCTGCATGGCTGC GTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAAAGCAGATGGCACTGG GGCTCTACCTCTAGGGTAGAAGAACTGATGTACCCCGACTGGCTGCGAGT GAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACACCCTTGCAGAGGTGGC TGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGCATGCACAAGACTCAG CACAACAGTGGTCCCACAAATGGAGCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0039 a0003c0004t0039	a0003c0004t0039g0146 a0003c0004t0039g0146	1	164	0.0061	630	c.87 others(641): Show c.8773_*8774insAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTG TGCGCTGCCTTTGGGGCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTG CAGCCTTCTTCGTTGCAAAGAGGCAGACCACAGGCCATCCTGAGGAGGAC TTGATGTTCAAGTGCAGAAAGCAGGCAGGATTACCACCTAGGGGACTCTG CCCTGGACAGAGAGAAAATTTGGGCCAAAGCAGAACAATCTCACTCAGAG CAGCATGTCGGTAGCTGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGAC TCAAAGAGCAACCAGCCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAG CAGCCACCAACCTCACCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCAC AGCCTGCATGGCTGCGTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAA AGCAGATGGCACTGGGGCTCTACCTCTAGGGTAGAAGAACTGATGTACCC CGACTGGCTGCGAGTGAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACAC CCTTGCAGAGGTGGCTGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGC ATGCACAAGACTCAGCACAACAGTGGTCCCACAAATGGAGCCACAT		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					4517		chr21	TogoVar
POTED_chr21_13604777_13650823	13650339	G G	GAGAGGAA others(623): Show GAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTGTGCGCTGCCTTTGGG GCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTGCAGCCTTCTTCGTTG CAAAGAGGCAGACCACAGGCCATCCTGAGGAGGACTTGATGTTCAAGTGC AGAAAGCAGGCAGGATTACCACCTAGGGGACTCTGCCCTGGACAGAGAGA AAATTTGGGCCAAAGCAGAACAATCTCACTCAGAGCAGCATGTCGGTAGC TGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGACTCAAAGAGCAACCAG CCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAGCAGCCACCAACCTCA CCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCACAGCCTGCATGGCTGC GTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAAAGCAGATGGCACTGG GGCTCTACCTCTAGGGTAGAAGAACTGATGTACCCCGACTGGCTGCGAGT GAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACACCCTTGCAGAGGTGGC TGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGCATGCACAAGCCTCAG CACAACAGTGGTCCCACAAATGGAGCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(104): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00673.hp2 HG00738.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19082.hp2 NA19089.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0009 a0012	a0001c0001 a0001c0010 a0003c0004 others(4): Show a0001c0001 a0001c0010 a0003c0004 a0005c0006 a0006c0008 a0009c0011 a0012c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0010t0021 a0001c0010t0026 a0003c0004t0005 a0003c0004t0045 a0005c0006t0009 a0005c0006t0041 a0006c0008t0011 a0006c0008t0040 a0009c0011t0013 a0012c0013t0013	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0138 others(56): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0200 a0001c0001t0005g0198 a0001c0001t0006g0004 a0001c0001t0006g0015 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0122 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0130 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0199 a0001c0001t0006g0203 a0001c0001t0006g0218 a0001c0001t0012g0033 a0001c0001t0012g0119 a0001c0001t0012g0132 a0001c0001t0022g0048 a0001c0001t0022g0123 a0001c0001t0023g0004 a0001c0001t0028g0139 a0001c0001t0029g0129 a0001c0001t0030g0174 a0001c0001t0035g0015 a0001c0001t0036g0131 a0001c0010t0021g0117 a0001c0010t0021g0118 a0001c0010t0026g0116 a0003c0004t0005g0002 a0003c0004t0005g0026 a0003c0004t0005g0051 a0003c0004t0005g0052 a0003c0004t0005g0053 a0003c0004t0005g0141 a0003c0004t0005g0142 a0003c0004t0005g0144 a0003c0004t0005g0145 a0003c0004t0005g0211 a0003c0004t0045g0143 a0005c0006t0009g0021 a0005c0006t0009g0205 a0005c0006t0009g0206 a0005c0006t0009g0207 a0005c0006t0009g0210 a0005c0006t0041g0208 a0006c0008t0011g0011 a0006c0008t0040g0213 a0009c0011t0013g0057 a0009c0011t0013g0209 a0012c0013t0013g0121 a0012c0013t0013g0204	107	270	0.3963	630	c.87 others(641): Show c.8773_*8774insAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTG TGCGCTGCCTTTGGGGCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTG CAGCCTTCTTCGTTGCAAAGAGGCAGACCACAGGCCATCCTGAGGAGGAC TTGATGTTCAAGTGCAGAAAGCAGGCAGGATTACCACCTAGGGGACTCTG CCCTGGACAGAGAGAAAATTTGGGCCAAAGCAGAACAATCTCACTCAGAG CAGCATGTCGGTAGCTGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGAC TCAAAGAGCAACCAGCCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAG CAGCCACCAACCTCACCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCAC AGCCTGCATGGCTGCGTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAA AGCAGATGGCACTGGGGCTCTACCTCTAGGGTAGAAGAACTGATGTACCC CGACTGGCTGCGAGTGAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACAC CCTTGCAGAGGTGGCTGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGC ATGCACAAGCCTCAGCACAACAGTGGTCCCACAAATGGAGCCACAT		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					4517		chr21	TogoVar
POTED_chr21_13604777_13650823	13650339	G G	GAGAGGAA others(623): Show GAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTGTGCGCTGCCTTTGGG GCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTGCAGCCTTCTTCGTTG CAAAGAGGCAGACCACAGGCCATCCTGAGGAGGACTTGATGTTCAAGTGC AGAAAGCAGGCAGGATTACCACCTAGGGGACTCTGCCCTGGACAGAGAGA AAATTTGGGCCAAAGCAGAACAATCTCACTCAGAGCAGCATGTCGGTAGC TGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGACTGAAAGAGCAACCAG CCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAGCAGCCACCAACCTCA CCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCACAGCCTGCATGGCTGC GTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAAAGCAGATGGCACTGG GGCTCTACCTCTAGGGTAGAAGAACTGATGTACCCCGACTGGCTGCGAGT GAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACACCCTTGCAGAGGTGGC TGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGCATGCACAAGCCTCAG CACAACAGTGGTCCCACAAATGGAGCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(73): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01106.hp2 HG01123.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01943.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02273.hp1 HG02280.hp2 HG02698.hp1 HG02738.hp1 HG02895.hp1 HG03017.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19001.hp1 NA19007.hp1 NA19030.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp2 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0009 a0001c0003 a0008c0009	a0001c0003t0001 a0001c0003t0003 a0001c0003t0017 others(13): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0017 a0001c0003t0020 a0001c0003t0024 a0001c0003t0027 a0001c0003t0031 a0001c0003t0033 a0001c0003t0034 a0001c0003t0037 a0001c0003t0038 a0001c0003t0042 a0001c0003t0043 a0001c0003t0044 a0008c0009t0014 a0008c0009t0018	a0001c0003t0001g0001 a0001c0003t0003g0001 a0001c0003t0003g0008 others(38): Show a0001c0003t0001g0001 a0001c0003t0003g0001 a0001c0003t0003g0008 a0001c0003t0003g0020 a0001c0003t0003g0035 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0046 a0001c0003t0003g0120 a0001c0003t0003g0136 a0001c0003t0003g0180 a0001c0003t0003g0182 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0192 a0001c0003t0003g0194 a0001c0003t0003g0196 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0017g0034 a0001c0003t0017g0181 a0001c0003t0020g0008 a0001c0003t0024g0178 a0001c0003t0024g0179 a0001c0003t0027g0034 a0001c0003t0031g0197 a0001c0003t0033g0001 a0001c0003t0034g0188 a0001c0003t0037g0008 a0001c0003t0038g0001 a0001c0003t0042g0008 a0001c0003t0043g0187 a0001c0003t0044g0193 a0008c0009t0014g0022 a0008c0009t0018g0022 a0008c0009t0018g0214	76	239	0.3180	630	c.87 others(641): Show c.8773_*8774insAGAGGAAATGAGCAGCAGGCTCAGGAGCAGGGTG TGCGCTGCCTTTGGGGCTCCAGTCCATGCCTCAGGGCTCGTGTGGCACTG CAGCCTTCTTCGTTGCAAAGAGGCAGACCACAGGCCATCCTGAGGAGGAC TTGATGTTCAAGTGCAGAAAGCAGGCAGGATTACCACCTAGGGGACTCTG CCCTGGACAGAGAGAAAATTTGGGCCAAAGCAGAACAATCTCACTCAGAG CAGCATGTCGGTAGCTGGGGCCTGTGTATGCCAGGCAAGGCCAAGCTGAC TGAAAGAGCAACCAGCCACCTCTGCAAGGGTGCACCTGGAGCAGGTGGAG CAGCCACCAACCTCACCCACTCAAGGAAGTAGGGATGGCCAGGTTCCCAC AGCCTGCATGGCTGCGTCCTGATGGCTGATGGAGCAGAGGCCTGAGGAAA AGCAGATGGCACTGGGGCTCTACCTCTAGGGTAGAAGAACTGATGTACCC CGACTGGCTGCGAGTGAGGTTGGTGGCTGGTCCACCTGCTCCTGGCACAC CCTTGCAGAGGTGGCTGGTTGCTCTTTGAGCCAGCTTGGCCTTGCCCGGC ATGCACAAGCCTCAGCACAACAGTGGTCCCACAAATGGAGCCACAT		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					4517		chr21	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(623): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	122	0.0082	630	c.387 others(649): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC CCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCB_chr16_23830983_24225611	24109273	C C	CGGGGCGG others(623): Show CGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCC CCCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCC CACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAG GCGCCCCTCACCTCCTGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0115 a0001c0002t0055g0115	1	146	0.0068	630	c.822 others(647): Show c.822-3700_822-3699insGGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCGCTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCCGGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGGGCGGCTGG CCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16						chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(623): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCC ACCTCCCTCCAAGATGGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGG CGCCCCTCACCTCCTGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02615.hp1 HG02895.hp1 others(9): Show HG01346.hp2 HG02615.hp1 HG02895.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03704.hp2 HG04199.hp2 NA18906.hp2 NA18998.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0018	a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 others(9): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0060 a0001c0002t0083 a0001c0003t0010 a0001c0004t0077 a0001c0006t0039 a0001c0007t0022 a0001c0007t0054 a0001c0008t0080 a0001c0018t0008	a0001c0001t0011g0112 a0001c0001t0014g0137 a0001c0001t0017g0087 others(9): Show a0001c0001t0011g0112 a0001c0001t0014g0137 a0001c0001t0017g0087 a0001c0001t0060g0108 a0001c0002t0083g0068 a0001c0003t0010g0103 a0001c0004t0077g0091 a0001c0006t0039g0025 a0001c0007t0022g0089 a0001c0007t0054g0095 a0001c0008t0080g0059 a0001c0018t0008g0049	12	18	0.6667	630	c.822 others(647): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCC GGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCG GACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCC TGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGTGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GA		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(623): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC CCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCC ACCTCCCTCCAAGATGGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGG CGCCCCTCACCTCCTGGATGGGGCAGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0033	1	7	0.1429	630	c.822 others(647): Show c.822-3664_822-3663insCGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCC GGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCG GACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCC TGGATGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGTGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GA		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2141872	T T	TGCCTCCT others(623): Show TGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGCAGCCGAAGCGCCTCCT TTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCC AGGGTCCACACATCCAGCAGCCGAAGCGCCTCTTTTCACTCCAGGGTCCA CACATCCAGCAGCCGAAGCGCCTCCTTTCAATCCAGGGTCCACACATCCA GCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACATCCAGCAGCCGA AGCGCCTCCTTTCTCTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTC CTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCACT CCAGGGTCCAGGCATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTC CAGGCATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACATC CAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACATCCAGCAGCC GAAGCGCCTCCTTTCTCTCCAGGGTCCACACATCCAGCAGCCGAAGCGCC TCCTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCA CTCCAGGGTCCACACATCCAGCAGCCGAAGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02155.hp2 HG02165.hp2 others(10): Show HG00621.hp2 HG02155.hp2 HG02165.hp2 NA18612.hp2 NA18942.hp1 NA18948.hp2 NA18956.hp1 NA18993.hp2 NA19004.hp2 NA19011.hp1 NA19065.hp2 NA19079.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001	a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0008 others(10): Show a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0009 a0001c0004t0001g0011 a0001c0004t0001g0056 a0001c0004t0001g0145 a0001c0004t0002g0036 a0001c0004t0002g0037 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0007t0001g0116	13	284	0.0458	630	c.421 others(647): Show c.421-2097_421-2096insGCAGCCGAAGCGCCTCCTTTCTCTCCAG GGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACA CATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGC AGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGCAGCCGAAG CGCCTCCTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCT TTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCTCTCC AGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCA CACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACATCCA GCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGCAGCCGA AGCGCCTCCTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTC CTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCTTTTCACT CCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCAATCCAGGGTC CACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACATC CA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2141939	A A	ACATCCAG others(623): Show ACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACATCCAG CAGCCGAAGCGCCTCTTTTCACTCCAGGGTCCACACATCCAGCAGCCGAA GCGCCTCCTTTCAATCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCC TTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCTCTC CAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCC ACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCC AGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGCAGCCG AAGCGCCTCCTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCT CCTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCTC TCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGT CCACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACAT CCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGCAGC CGAAGCGCCTCCTTTCACTCCAGGGTCCACG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0010	1	284	0.0035	630	c.421 others(647): Show c.421-2097_421-2096insGCAGCCGAAGCGCCTCCTTTCTCTCCAG GGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACA CATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGC AGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGCAGCCGAAG CGCCTCCTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCT TTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCTCTCC AGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCA CACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACATCCA GCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCAGGCATCCAGCAGCCGA AGCGCCTCCTTTCACTCCAGGGTCCACGCATCCAGCAGCCGAAGCGCCTC CTTTCACTCCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCTTTTCACT CCAGGGTCCACACATCCAGCAGCCGAAGCGCCTCCTTTCAATCCAGGGTC CACACATCCAGCAGCCGAAGCGCCTCCTTTCACTCCAGGGTCCACACATC CA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113161883	T T	TCCCCCCA others(623): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCC CCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	351	0.0028	630	c.259 others(645): Show c.259+915_259+916insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCT CCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113161883	T T	TCCCCCCA others(623): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAG GTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCTC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCC CCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0260 a0001c0001t0006g0260	1	351	0.0028	630	c.259 others(645): Show c.259+915_259+916insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCT CCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162303	T T	TCCCCTCA others(623): Show TCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACGTCCTCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCC CTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCT CCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	370	0.0027	630	c.260 others(645): Show c.260-702_260-701insTCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCTCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PXDN_chr2_1626887_1749515	1710622	T T	TCTCCACC others(623): Show TCTCCACCAGCACCCACTCTATGAACACCCACTCTCCACCAGCACCCGCT CTACCAGCACCCACTCTATGAACACCCACTCTCCACCAGCACCCACTCCA CCAGCACCCTCTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCA GCACCCACTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAGCA CCTGCTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCC ACTCTATGAACACCCGCTCCACCAGTACCCACTCTCCACCAGCACCCGCT CCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCACTCCA CCAGCATCCACTCTACCAGCACCCGCTCCACAAGCACCCACTCTCCACCA GCACCCACTCTCCACTAGCACCCACTCCACCAGCACCCACTCTCCACCAG CACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGC ACCCGCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACC CACTCCACCAGCATCCACTCTACCAGCACCCGCTCCACCAGCACCCACTC TCCACCAGCACCCACTCTCCACCAGCACCCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp1 HG02723.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0023 a0001c0006t0004 a0001c0002t0023 a0001c0006t0004	a0001c0002t0023g0063 a0001c0006t0004g0284 a0001c0002t0023g0063 a0001c0006t0004g0284	2	320	0.0063	630	c.201 others(649): Show c.201-17489_201-17488insCGGGTGCTGGTGGAGAGTGGGTGCTG GTGGAGAGTGGGTGCTGGTGGAGCGGGTGCTGGTAGAGTGGATGCTGGTG GAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGCGGGTGCTGGTGGAG CGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGCGGGTGCTGGTGGAGAGT GGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTAGTGGAGAGTG GGTGCTGGTGGAGAGTGGGTGCTTGTGGAGCGGGTGCTGGTAGAGTGGAT GCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCT GGTGGAGCGGGTGCTGGTGGAGAGTGGGTACTGGTGGAGCGGGTGTTCAT AGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGA GCAGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGTG GGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGGGT GCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGTTCATAGAGTGGGTGCT GGTAGAGCGGGTGCTGGTGGAGAGTGGGTGTTCATAGAGTGGGTGCTGGT GGAG		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(623): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0016 a0016	a0016c0042 a0016c0042	a0016c0042t0001 a0016c0042t0001	a0016c0042t0001g0130 a0016c0042t0001g0130	1	221	0.0045	630	c.205 others(645): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCACAGGCCG ACCCCTCCTCACTCCCCACTGCCCAGGCCGACCCCTCCTCACTCCCCACT GCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar

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