#!/usr/bin/perl; use strict; use v5.8.8; use Data::Dumper; ##List all .var files in directory my $path = '.'; #Reads same directory as running .pl file opendir(DIR, $path); my @files = grep { /\.var$/ } readdir(DIR); #Reads names of .var files into @files @files = sort @files; my @samples; foreach (@files) { if ($_ =~ /\_/) { $_ =~ /(^.+?)\_/; push @samples, $1; } else { $_ =~ /(^.+)\.var/; push @samples, $1; } } closedir(DIR); @files = sort @files; my $file_count = @files; print "\nRunning on $file_count files:\n"; print "@files "; #Make unique list of variants observed in all opened .var files my @variants; ##Create concatenated list of all variant locations and alleles my @zygosity; my $zyg; my %zygos; foreach my $file (@files) { open VAR, $file; chomp (my @var = ); ##sub in $file for ID (3rd column) while ($var[0] =~ s/ID/$file/) { shift @var; } foreach (@var) { my @fields = split /\t/, $_; $fields[2] = $file; my $locus = join "\t", @fields[0,1,2,3,4,5]; push @variants, $locus; #pull out genotype $fields[9] =~ /(^\d\/\d\:)/; if ($1 =~ /0\/1\:/) { $zyg = "HET"; } else { $zyg = "HOM"; } $fields[9] = $zyg; # push @zygosity, $zyg; push @{$zygos{$locus}}, $zyg; } } close VAR; my %variants_hash = map { $_, 1 } @variants; ##Generates the unique list my @variants_list = keys %variants_hash; %variants_hash = undef; @variants_list = sort @variants_list; #List of just loci my %variants_geno; #List of loci to which genotypes will be appended my %variants_info; # List of variant information to append after genotypes for printing. my $sum_variants = @variants_list; print "\nRunning on $sum_variants non-redundant variants.\n"; # Pull out genotypes for all of the non-redundant variants for each individual my @variant_geno; #Pointless array for anonymous assignation of arrays in hash foreach my $file (@files) { open VAR, $file; my @var = ; foreach my $variant (@variants_list) { my $found = 0; my $genotype = 'REF?'; foreach my $line (@var) { my @fields2 = split /\t/, $line; $fields2[2] = $file; $fields2[9] = $zygos{$variant}; my $newline = join "\t", @fields2[0..123]; $line = $newline; if ($line =~ /$variant/) { if ($found == 0) { $variants_info{$variant} = (join "\t", @fields2[10..123]); $found ++; } if ($fields2[9] eq 'HET') { $genotype = 'HET'; } if ($fields2[9] eq 'HOM') { $genotype = 'HOM'; } last; }} if ($variants_geno{$variant} =~ /./) { push @{$variants_geno{$variant}}, $genotype; } else { @{$variants_geno{$variant}} = [@variant_geno]; push @{$variants_geno{$variant}}, $genotype; }} close VAR; } open OUT, ">$ARGV[0]" . 'merged.vars'; my $samples_list = join "\t", @samples; print OUT "CHROM POS ID REF ALT QUAL $samples_list Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene Func.knownGene Gene.knownGene GeneDetail.knownGene ExonicFunc.knownGene AAChange.knownGene avsnp144 1000g2015aug_all 1000g2015aug_afr 1000g2015aug_amr 1000g2015aug_sas 1000g2015aug_eur 1000g2015aug_eas esp6500siv2_all esp6500siv2_ea esp6500siv2_aa ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS cosmic70 SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred PROVEAN_score PROVEAN_pred VEST3_score CADD_raw CADD_phred DANN_score fathmm-MKL_coding_score fathmm-MKL_coding_pred MetaSVM_score MetaSVM_pred MetaLR_score MetaLR_pred integrated_fitCons_score integrated_confidence_value GERP++_RS phyloP7way_vertebrate phyloP20way_mammalian phastCons7way_vertebrate phastCons20way_mammalian SiPhy_29way_logOdds Interpro_domain dbscSNV_ADA_SCORE dbscSNV_RF_SCORE CLINSIG CLNDBN CLNACC CLNDSDB CLNDSDBID HRC_AF HRC_AC HRC_AN HRC_non1000G_AF HRC_non1000G_AC HRC_non1000G_AN Kaviar_AF Kaviar_AC Kaviar_AN nci60 KEY3 INFO_AC INFO_AF INFO_BaseQRankSum INFO_ClippingRankSum INFO_DP INFO_DS INFO_END INFO_ExcessHet INFO_FS INFO_HaplotypeScore INFO_InbreedingCoeff INFO_MLEAC INFO_MLEAF INFO_MQ INFO_MQRankSum INFO_QD INFO_RAW_MQ INFO_ReadPosRankSum INFO_SOR seq seq_flag AAchange Grantham Mutability FuentesFalsePositive ACMG"; foreach my $variant_ident (@variants_list) { shift @{$variants_geno{$variant_ident}}; my $genotypes = join "\t", @{$variants_geno{$variant_ident}}; my $joined = join "\t", $variant_ident, $genotypes, $variants_info{$variant_ident}; $joined =~ s/^\s+//; chop $joined; print OUT "$joined"; } close OUT; #### --Dummydata1.var-- #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT IFS003-W Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene Func.knownGene Gene.knownGene GeneDetail.knownGene ExonicFunc.knownGene AAChange.knownGene avsnp144 1000g2015aug_all 1000g2015aug_afr 1000g2015aug_amr 1000g2015aug_sas 1000g2015aug_eur 1000g2015aug_eas esp6500siv2_all esp6500siv2_ea esp6500siv2_aa ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS cosmic70 SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred PROVEAN_score PROVEAN_pred VEST3_score CADD_raw CADD_phred DANN_score fathmm-MKL_coding_score fathmm-MKL_coding_pred MetaSVM_score MetaSVM_pred MetaLR_score MetaLR_pred integrated_fitCons_score integrated_confidence_value GERP++_RS phyloP7way_vertebrate phyloP20way_mammalian phastCons7way_vertebrate phastCons20way_mammalian SiPhy_29way_logOdds Interpro_domain dbscSNV_ADA_SCORE dbscSNV_RF_SCORE CLINSIG CLNDBN CLNACC CLNDSDB CLNDSDBID HRC_AF HRC_AC HRC_AN HRC_non1000G_AF HRC_non1000G_AC HRC_non1000G_AN Kaviar_AF Kaviar_AC Kaviar_AN nci60 KEY3 INFO_AC INFO_AF INFO_BaseQRankSum INFO_ClippingRankSum INFO_DP INFO_DS INFO_END INFO_ExcessHet INFO_FS INFO_HaplotypeScore INFO_InbreedingCoeff INFO_MLEAC INFO_MLEAF INFO_MQ INFO_MQRankSum INFO_QD INFO_RAW_MQ INFO_ReadPosRankSum INFO_SOR seq seq_flag AAchange Grantham Mutability FuentesFalsePositive ACMG chr1 14653 . C T 191.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.23;ClippingRankSum=0.00;DP=26;ExcessHet=3.0103;FS=6.641;MLEAC=1;MLEAF=0.500;MQ=32.19;MQRankSum=0.580;QD=7.38;ReadPosRankSum=-1.830e-01;SOR=2.280 GT:AD:DP:GQ:PL 0/1:15,11:26:99:220,0,292 chr1 14653 14653 C T ncRNA_exonic WASH7P intergenic NONE,MIR6859-3 dist=NONE;dist=2716 rs62635297 0.0011526 30 26028 chr1:14653:14653:C:T 1 0.5 1.23 0 26 no_DS no_END 3.0103 6.641 no_HaplotypeScore no_InbreedingCoeff 1 0.5 32.19 0.58 7.38 no_RAW_MQ -1.83E-01 2.28 AAGGAAGTAGGTCTGAGCAGCTTGTCCTGGCTGTGTCCATGTCAGAGCAA[C]GGCCCAAGTCTGGGTCTGGGGGGGAAGGTGTCATGGAGCCCCCTACGATT pass XX . 0 1 0 chr1 16949 . A C 240.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.57;ClippingRankSum=0.00;DP=39;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.500;MQ=21.03;MQRankSum=-7.380e-01;QD=6.17;ReadPosRankSum=1.62;SOR=0.693 GT:AD:DP:GQ:PL 0/1:24,15:39:99:269,0,502 chr1 16949 16949 A C ncRNA_exonic WASH7P downstream MIR6859-3 rs199745162 0.0139776 0.0227 0.0144 0.0143 0.0159 0.0159444 415 26028 chr1:16949:16949:A:C 1 0.5 1.57 0 39 no_DS no_END 3.0103 1.264 no_HaplotypeScore no_InbreedingCoeff 1 0.5 21.03 -7.38E-01 6.17 no_RAW_MQ 1.62 0.693 CTGGAATGGTGCCAGGGGCAGAGGGGGCAATGCCGGGGCCCAGGTCGGCA[A]TGTACATGAGGTCGTTGGCAATGCCGGGCAGGTCAGGCAGGTAGGATGGA pass XX . 0 1 0 chr1 17020 . G A 58.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=-4.670e-01;ClippingRankSum=0.00;DP=43;ExcessHet=3.0103;FS=23.602;MLEAC=1;MLEAF=0.500;MQ=21.00;MQRankSum=0.00;QD=1.37;ReadPosRankSum=-1.126e+00;SOR=1.132 GT:AD:DP:GQ:PL 0/1:34,9:43:87:87,0,789 chr1 17020 17020 G A ncRNA_exonic WASH7P downstream MIR6859-3 rs199740902 0.0141002 367 26028 chr1:17020:17020:G:A 1 0.5 -4.67E-01 0 43 no_DS no_END 3.0103 23.602 no_HaplotypeScore no_InbreedingCoeff 1 0.5 21 0 1.37 no_RAW_MQ -1.13E+00 1.132 ATGCCGGGCAGGTCAGGCAGGTAGGATGGAACATCAATCTCAGGCACCTG[G]CCCAGGTCTGGCACATAGAAGTAGTTCTCTGGGACCTGCAAGATTAGGCA pass XX . 0 1 0 chr1 17385 . G A 81.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.653;ClippingRankSum=0.00;DP=71;ExcessHet=3.0103;FS=3.091;MLEAC=1;MLEAF=0.500;MQ=48.65;MQRankSum=0.417;QD=1.15;ReadPosRankSum=1.02;SOR=0.311 GT:AD:DP:GQ:PL 0/1:60,11:71:99:110,0,1715 chr1 17385 17385 G A ncRNA_exonic;splicing MIR6859-1,MIR6859-2,MIR6859-3,MIR6859-4;WASH7P NR_024540:exon6:c.588-17C>T ncRNA_exonic MIR6859-3 rs201535981 0.2454 0.2331 0.2857 0.0423 0.2817 0.2743 0.2321 0.2092 0.0015912 246 154602 chr1:17385:17385:G:A 1 0.5 0.653 0 71 no_DS no_END 3.0103 3.091 no_HaplotypeScore no_InbreedingCoeff 1 0.5 48.65 0.417 1.15 no_RAW_MQ 1.02 0.311 AGCCAGGGGGTCCAGGAAGACATACTTCTTCTACCTACAGAGGCGACATG[G]GGGTCAGGCAAGCTGACACCCGCTGTCCTGAGCCCATGTTCCTCTCCCAC pass XX . 0 0 0 chr1 17408 . C G 134.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=-9.480e-01;ClippingRankSum=0.00;DP=94;ExcessHet=3.0103;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=52.27;MQRankSum=-8.570e-01;QD=1.45;ReadPosRankSum=0.359;SOR=0.527 GT:AD:DP:GQ:PL 0/1:79,14:93:99:163,0,2339 chr1 17408 17408 C G ncRNA_exonic MIR6859-1,MIR6859-2,MIR6859-3,MIR6859-4 ncRNA_exonic MIR6859-3 rs747093451 0.0352 0.0339 0.049 0 0.0273 0.0438 0 0.0074 0.0013842 214 154602 chr1:17408:17408:C:G 1 0.5 -9.48E-01 0 94 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 1 0.5 52.27 -8.57E-01 1.45 no_RAW_MQ 0.359 0.527 ACTTCTTCTACCTACAGAGGCGACATGGGGGTCAGGCAAGCTGACACCCG[C]TGTCCTGAGCCCATGTTCCTCTCCCACATCATCAGGGGCACAGCGTGCAC pass XX . 0 0 0 chr1 17697 . G C 125.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=-2.529e+00;ClippingRankSum=0.00;DP=28;ExcessHet=3.0103;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=39.25;MQRankSum=-8.310e-01;QD=4.49;ReadPosRankSum=1.07;SOR=0.124 GT:AD:DP:GQ:PL 0/1:21,7:28:99:154,0,714 chr1 17697 17697 G C ncRNA_exonic WASH7P upstream MIR6859-3 rs374995955 0.0155602 405 26028 chr1:17697:17697:G:C 1 0.5 -2.53E+00 0 28 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 1 0.5 39.25 -8.31E-01 4.49 no_RAW_MQ 1.07 0.124 GCTGATGTTGCTGGGAAGACCCCCAAGTCCCTCTTCTGCATCGTCCTCGG[G]CTCCGGCTTGGTGCTCACGCACACAGGAAAGTCCTTCAGCTTCTCCTGAG pass XX . 0 1 0 #### --Dummydata2.var-- #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT IFS001_W1515808 Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene Func.knownGene Gene.knownGene GeneDetail.knownGene ExonicFunc.knownGene AAChange.knownGene avsnp144 1000g2015aug_all 1000g2015aug_afr 1000g2015aug_amr 1000g2015aug_sas 1000g2015aug_eur 1000g2015aug_eas esp6500siv2_all esp6500siv2_ea esp6500siv2_aa ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS cosmic70 SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred PROVEAN_score PROVEAN_pred VEST3_score CADD_raw CADD_phred DANN_score fathmm-MKL_coding_score fathmm-MKL_coding_pred MetaSVM_score MetaSVM_pred MetaLR_score MetaLR_pred integrated_fitCons_score integrated_confidence_value GERP++_RS phyloP7way_vertebrate phyloP20way_mammalian phastCons7way_vertebrate phastCons20way_mammalian SiPhy_29way_logOdds Interpro_domain dbscSNV_ADA_SCORE dbscSNV_RF_SCORE CLINSIG CLNDBN CLNACC CLNDSDB CLNDSDBID HRC_AF HRC_AC HRC_AN HRC_non1000G_AF HRC_non1000G_AC HRC_non1000G_AN Kaviar_AF Kaviar_AC Kaviar_AN nci60 KEY3 INFO_AC INFO_AF INFO_BaseQRankSum INFO_ClippingRankSum INFO_DP INFO_DS INFO_END INFO_ExcessHet INFO_FS INFO_HaplotypeScore INFO_InbreedingCoeff INFO_MLEAC INFO_MLEAF INFO_MQ INFO_MQRankSum INFO_QD INFO_RAW_MQ INFO_ReadPosRankSum INFO_SOR seq seq_flag AAchange Grantham Mutability FuentesFalsePositive ACMG chr1 14464 . A T 39.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.38;ClippingRankSum=0.00;DP=4;ExcessHet=3.0103;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=40.51;MQRankSum=-6.740e-01;QD=9.94;ReadPosRankSum=0.674;SOR=2.303 GT:AD:DP:GQ:PL 0/1:2,2:4:64:68,0,64 chr1 14464 14464 A T ncRNA_exonic WASH7P intergenic NONE,MIR6859-3 dist=NONE;dist=2905 rs546169444 0.0958466 0.0144 0.1138 0.1943 0.1859 0.005 0.0346166 901 26028 chr1:14464:14464:A:T 1 0.5 1.38 0 4 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 1 0.5 40.51 -6.74E-01 9.94 no_RAW_MQ 0.674 2.303 GTTCTTTATTGATTGGTGTGCCGTTTTCTCTGGAAGCCTCTTAAGAACAC[A]GTGGCGCAGGCTGGGTGGAGCCGTCCCCCCATGGAGCACAGGCAGACAGA pass XX . 0 1 0 chr1 17407 . G A 140.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=2.44;ClippingRankSum=0.00;DP=60;ExcessHet=3.0103;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=49.25;MQRankSum=1.74;QD=2.39;ReadPosRankSum=-1.500e-02;SOR=0.608 GT:AD:DP:GQ:PL 0/1:49,10:59:99:169,0,1261 chr1 17407 17407 G A ncRNA_exonic MIR6859-1,MIR6859-2,MIR6859-3,MIR6859-4 ncRNA_exonic MIR6859-3 rs372841554 0.0765 0.0303 0.054 0.0672 0.0273 0.0894 0.0714 0.1352 0.0030013 464 154602 chr1:17407:17407:G:A 1 0.5 2.44 0 60 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 1 0.5 49.25 1.74 2.39 no_RAW_MQ -1.50E-02 0.608 TACTTCTTCTACCTACAGAGGCGACATGGGGGTCAGGCAAGCTGACACCC[G]CTGTCCTGAGCCCATGTTCCTCTCCCACATCATCAGGGGCACAGCGTGCA pass XX . 0 0 0 chr1 17758 . T A 75.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.674;ClippingRankSum=0.00;DP=5;ExcessHet=3.0103;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=38.87;MQRankSum=-5.240e-01;QD=15.15;ReadPosRankSum=-5.240e-01;SOR=1.022 GT:AD:DP:GQ:PL 0/1:2,3:5:63:104,0,63 chr1 17758 17758 T A ncRNA_splicing WASH7P NR_024540:exon5:c.451-16A>T upstream MIR6859-3 chr1:17758:17758:T:A 1 0.5 0.674 0 5 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 1 0.5 38.87 -5.24E-01 15.15 no_RAW_MQ -5.24E-01 1.022 GTGCTCACGCACACAGGAAAGTCCTTCAGCTTCTCCTGAGAGGGCCAGGA[T]GGCCAAGGGATGGTGAATATTTGGTGCTGGGCCTAATCAGCTGCCATCCC pass XX . 0 1 0 chr1 69511 . A G 2186.77 . AC=2;AF=1.00;AN=2;DP=78;ExcessHet=3.0103;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=43.68;QD=28.04;SOR=0.744 GT:AD:DP:GQ:PL 1/1:0,78:78:99:2215,234,0 chr1 69511 69511 A G exonic OR4F5 nonsynonymous SNV OR4F5:NM_001005484:exon1:c.A421G:p.T141A exonic OR4F5 nonsynonymous SNV OR4F5:uc001aal.1:exon1:c.A421G:p.T141A rs2691305 0.7598 0.8874 0.5441 0.9394 0.5942 0.9507 0.9994 0.9907 0.9716 0.9597 0.9832 0.652 T 0 B 0 B 0 N 1 P -1.295 N 1.26 T 1.54 N 0.012 -0.784 0.047 0.454 0.003 N -0.997 T 0 T 0.487 0 1.15 -0.016 -0.132 0.055 0.765 4.198 GPCR, rhodopsin-like, 7TM 0.54161 83734 154602 0.51 chr1:69511:69511:A:G 2 1 no_BaseQRankSum no_ClippingRankSum 78 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 2 1 43.68 no_MQRankSum 28.04 no_RAW_MQ no_ReadPosRankSum 0.744 ACTACACTACAATTATGTGTGGCAACGCATGTGTCGGCATTATGGCTGTC[A]CATGGGGAATTGGCTTTCTCCATTCGGTGAGCCAGTTGGCGTTTGCCGTG pass TA . 0 1 0 chr1 138041 . G A 119.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.97;ClippingRankSum=0.00;DP=19;ExcessHet=3.0103;FS=8.903;MLEAC=1;MLEAF=0.500;MQ=30.73;MQRankSum=-1.007e+00;QD=6.30;ReadPosRankSum=1.18;SOR=0.493 GT:AD:DP:GQ:PL 0/1:12,7:19:99:148,0,289 chr1 138041 138041 G A ncRNA_exonic LOC729737 intergenic RP11-34P13.7,RP11-34P13.14 dist=4318;dist=1749 rs560358882 0.00239617 0.0029 0.0051 0.005 0.0015368 40 26028 chr1:138041:138041:G:A 1 0.5 1.97 0 19 no_DS no_END 3.0103 8.903 no_HaplotypeScore no_InbreedingCoeff 1 0.5 30.73 -1.01E+00 6.3 no_RAW_MQ 1.18 0.493 GAAGGGAAAAACTGGGCCTGGAAAGGCCGTTGTCAGGAATGAGCCCCATG[G]GCCTGAAGAGGCCACTGGCAGGCGGGAGCTGGGCCTGCCGAAGCGGCCGA pass XX . 0 0 0 chr1 138156 . G T 120.84 . AC=2;AF=1.00;AN=2;DP=6;ExcessHet=3.0103;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=20.17;QD=20.14;SOR=0.693 GT:AD:DP:GQ:PL 1/1:0,6:6:18:149,18,0 chr1 138156 138156 G T ncRNA_exonic LOC729737 intergenic RP11-34P13.7,RP11-34P13.14 dist=4433;dist=1634 rs370691115 0.0967804 2519 26028 chr1:138156:138156:G:T 2 1 no_BaseQRankSum no_ClippingRankSum 6 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 2 1 20.17 no_MQRankSum 20.14 no_RAW_MQ no_ReadPosRankSum 0.693 GGACTCGGGAGGCCGCAGTGAAGCAACAGCTAGCTGGGCGTGGAGAGTCC[G]CTGTGAGGCAGAGGCTGGGCCTGTGCAGGCCTTCGGGAGGCAGGAGGCTG pass XX . 0 0 0 chr1 139213 . A G 1774.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=-4.140e+00;ClippingRankSum=0.00;DP=97;ExcessHet=3.0103;FS=3.809;MLEAC=1;MLEAF=0.500;MQ=39.41;MQRankSum=-1.653e+00;QD=18.30;ReadPosRankSum=-7.760e-01;SOR=1.060 GT:AD:DP:GQ:PGT:PID:PL 0/1:51,46:97:99:0|1:139213_A_G:1803,0,3192 chr1 139213 139213 A G ncRNA_exonic LOC729737 downstream RP11-34P13.14 rs370723703 0.2506 0.3787 0.2879 0.3404 0.25 0.2597 0.3083 0.2352 0.0259699 4015 154602 chr1:139213:139213:A:G 1 0.5 -4.14E+00 0 97 no_DS no_END 3.0103 3.809 no_HaplotypeScore no_InbreedingCoeff 1 0.5 39.41 -1.65E+00 18.3 no_RAW_MQ -7.76E-01 1.06 GGAAGGTTGCCATGAGACAAAAGTTGGGCCTGGAAAGGCCCTTGTGAAGC[A]TGAGCTTGGCCTAAAGAGGCCACTGGGTGGCAGGAGCTGGGTGTGTAGAA pass XX . 0 0 0 chr1 139233 . C A 1883.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=-9.990e-01;ClippingRankSum=0.00;DP=110;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.500;MQ=39.80;MQRankSum=0.636;QD=17.13;ReadPosRankSum=-1.834e+00;SOR=0.595 GT:AD:DP:GQ:PGT:PID:PL 0/1:56,54:110:99:0|1:139213_A_G:1912,0,3261 chr1 139233 139233 C A ncRNA_exonic LOC729737 downstream RP11-34P13.14 rs373847457 0.2478 0.3763 0.2985 0.3548 . 0.2577 0.3103 0.2308 0.0254654 3937 154602 chr1:139233:139233:C:A 1 0.5 -9.99E-01 0 110 no_DS no_END 3.0103 2.463 no_HaplotypeScore no_InbreedingCoeff 1 0.5 39.8 0.636 17.13 no_RAW_MQ -1.83E+00 0.595 AAGTTGGGCCTGGAAAGGCCCTTGTGAAGCATGAGCTTGGCCTAAAGAGG[C]CACTGGGTGGCAGGAGCTGGGTGTGTAGAAGCTGCTGAAAGGTTGGGAGC pass XX . 0 0 0 #### --Dummydata3.var-- #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT IFS002_W1600378 Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene Func.knownGene Gene.knownGene GeneDetail.knownGene ExonicFunc.knownGene AAChange.knownGene avsnp144 1000g2015aug_all 1000g2015aug_afr 1000g2015aug_amr 1000g2015aug_sas 1000g2015aug_eur 1000g2015aug_eas esp6500siv2_all esp6500siv2_ea esp6500siv2_aa ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS cosmic70 SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred PROVEAN_score PROVEAN_pred VEST3_score CADD_raw CADD_phred DANN_score fathmm-MKL_coding_score fathmm-MKL_coding_pred MetaSVM_score MetaSVM_pred MetaLR_score MetaLR_pred integrated_fitCons_score integrated_confidence_value GERP++_RS phyloP7way_vertebrate phyloP20way_mammalian phastCons7way_vertebrate phastCons20way_mammalian SiPhy_29way_logOdds Interpro_domain dbscSNV_ADA_SCORE dbscSNV_RF_SCORE CLINSIG CLNDBN CLNACC CLNDSDB CLNDSDBID HRC_AF HRC_AC HRC_AN HRC_non1000G_AF HRC_non1000G_AC HRC_non1000G_AN Kaviar_AF Kaviar_AC Kaviar_AN nci60 KEY3 INFO_AC INFO_AF INFO_BaseQRankSum INFO_ClippingRankSum INFO_DP INFO_DS INFO_END INFO_ExcessHet INFO_FS INFO_HaplotypeScore INFO_InbreedingCoeff INFO_MLEAC INFO_MLEAF INFO_MQ INFO_MQRankSum INFO_QD INFO_RAW_MQ INFO_ReadPosRankSum INFO_SOR seq seq_flag AAchange Grantham Mutability FuentesFalsePositive ACMG chr1 14590 . G A 118.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=2.43;ClippingRankSum=0.00;DP=11;ExcessHet=3.0103;FS=3.090;MLEAC=1;MLEAF=0.500;MQ=28.67;MQRankSum=-1.513e+00;QD=10.80;ReadPosRankSum=0.357;SOR=1.981 GT:AD:DP:GQ:PGT:PID:PL 0/1:7,4:11:99:0|1:14590_G_A:147,0,307 chr1 14590 14590 G A ncRNA_exonic WASH7P intergenic NONE,MIR6859-3 dist=NONE;dist=2779 chr1:14590:14590:G:A 1 0.5 2.43 0 11 no_DS no_END 3.0103 3.09 no_HaplotypeScore no_InbreedingCoeff 1 0.5 28.67 -1.51E+00 10.8 no_RAW_MQ 0.357 1.981 CAAGCCAGCCTTCCGCTCCTTGAAGCTGGTCTCCACACAGTGCTGGTTCC[G]TCACCCCCTCCCAAGGAAGTAGGTCTGAGCAGCTTGTCCTGGCTGTGTCC pass XX . 0 1 0 chr1 14599 . T A 115.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.253;ClippingRankSum=0.00;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.500;MQ=30.13;MQRankSum=-1.712e+00;QD=9.65;ReadPosRankSum=1.16;SOR=1.721 GT:AD:DP:GQ:PGT:PID:PL 0/1:8,4:12:99:0|1:14590_G_A:144,0,349 chr1 14599 14599 T A ncRNA_exonic WASH7P intergenic NONE,MIR6859-3 dist=NONE;dist=2770 rs531646671 0.147564 0.121 0.1758 0.2096 0.161 0.0893 0.0283925 739 26028 chr1:14599:14599:T:A 1 0.5 0.253 0 12 no_DS no_END 3.0103 2.881 no_HaplotypeScore no_InbreedingCoeff 1 0.5 30.13 -1.71E+00 9.65 no_RAW_MQ 1.16 1.721 CTTCCGCTCCTTGAAGCTGGTCTCCACACAGTGCTGGTTCCGTCACCCCC[T]CCCAAGGAAGTAGGTCTGAGCAGCTTGTCCTGGCTGTGTCCATGTCAGAG homopolymer XX . 0 1 0 chr1 14604 . A G 151.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.02;ClippingRankSum=0.00;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.500;MQ=30.13;MQRankSum=-1.712e+00;QD=12.65;ReadPosRankSum=1.34;SOR=1.721 GT:AD:DP:GQ:PGT:PID:PL 0/1:8,4:12:99:0|1:14590_G_A:180,0,346 chr1 14604 14604 A G ncRNA_exonic WASH7P intergenic NONE,MIR6859-3 dist=NONE;dist=2765 rs541940975 0.147564 0.121 0.1758 0.2096 0.161 0.0893 0.0285846 744 26028 chr1:14604:14604:A:G 1 0.5 1.02 0 12 no_DS no_END 3.0103 2.881 no_HaplotypeScore no_InbreedingCoeff 1 0.5 30.13 -1.71E+00 12.65 no_RAW_MQ 1.34 1.721 GCTCCTTGAAGCTGGTCTCCACACAGTGCTGGTTCCGTCACCCCCTCCCA[A]GGAAGTAGGTCTGAGCAGCTTGTCCTGGCTGTGTCCATGTCAGAGCAACG pass XX . 0 1 0 chr1 14610 . T C 151.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=3.16;ClippingRankSum=0.00;DP=13;ExcessHet=3.0103;FS=3.123;MLEAC=1;MLEAF=0.500;MQ=31.00;MQRankSum=-1.442e+00;QD=11.67;ReadPosRankSum=0.860;SOR=2.030 GT:AD:DP:GQ:PGT:PID:PL 0/1:8,5:13:99:0|1:14590_G_A:180,0,346 chr1 14610 14610 T C ncRNA_exonic WASH7P intergenic NONE,MIR6859-3 dist=NONE;dist=2759 0.0001921 5 26028 chr1:14610:14610:T:C 1 0.5 3.16 0 13 no_DS no_END 3.0103 3.123 no_HaplotypeScore no_InbreedingCoeff 1 0.5 31 -1.44E+00 11.67 no_RAW_MQ 0.86 2.03 TGAAGCTGGTCTCCACACAGTGCTGGTTCCGTCACCCCCTCCCAAGGAAG[T]AGGTCTGAGCAGCTTGTCCTGGCTGTGTCCATGTCAGAGCAACGGCCCAA pass XX . 0 1 0 chr1 14653 . C T 254.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=1.91;ClippingRankSum=0.00;DP=25;ExcessHet=3.0103;FS=7.952;MLEAC=1;MLEAF=0.500;MQ=30.99;MQRankSum=-1.236e+00;QD=10.19;ReadPosRankSum=0.792;SOR=2.642 GT:AD:DP:GQ:PL 0/1:12,13:25:99:283,0,238 chr1 14653 14653 C T ncRNA_exonic WASH7P intergenic NONE,MIR6859-3 dist=NONE;dist=2716 rs62635297 0.0011526 30 26028 chr1:14653:14653:C:T 1 0.5 1.91 0 25 no_DS no_END 3.0103 7.952 no_HaplotypeScore no_InbreedingCoeff 1 0.5 30.99 -1.24E+00 10.19 no_RAW_MQ 0.792 2.642 AAGGAAGTAGGTCTGAGCAGCTTGTCCTGGCTGTGTCCATGTCAGAGCAA[C]GGCCCAAGTCTGGGTCTGGGGGGGAAGGTGTCATGGAGCCCCCTACGATT pass XX . 0 1 0 chr1 16949 . A C 183.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=-7.580e-01;ClippingRankSum=0.00;DP=31;ExcessHet=3.0103;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=21.07;MQRankSum=-1.095e+00;QD=5.93;ReadPosRankSum=-3.240e-01;SOR=0.515 GT:AD:DP:GQ:PL 0/1:19,12:31:99:212,0,396 chr1 16949 16949 A C ncRNA_exonic WASH7P downstream MIR6859-3 rs199745162 0.0139776 0.0227 0.0144 0.0143 0.0159 0.0159444 415 26028 chr1:16949:16949:A:C 1 0.5 -7.58E-01 0 31 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 1 0.5 21.07 -1.10E+00 5.93 no_RAW_MQ -3.24E-01 0.515 CTGGAATGGTGCCAGGGGCAGAGGGGGCAATGCCGGGGCCCAGGTCGGCA[A]TGTACATGAGGTCGTTGGCAATGCCGGGCAGGTCAGGCAGGTAGGATGGA pass XX . 0 1 0 chr1 17020 . G A 99.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=-1.024e+00;ClippingRankSum=0.00;DP=26;ExcessHet=3.0103;FS=14.474;MLEAC=1;MLEAF=0.500;MQ=21.00;MQRankSum=0.00;QD=3.84;ReadPosRankSum=-2.034e+00;SOR=2.800 GT:AD:DP:GQ:PL 0/1:18,8:26:99:128,0,424 chr1 17020 17020 G A ncRNA_exonic WASH7P downstream MIR6859-3 rs199740902 0.0141002 367 26028 chr1:17020:17020:G:A 1 0.5 -1.02E+00 0 26 no_DS no_END 3.0103 14.474 no_HaplotypeScore no_InbreedingCoeff 1 0.5 21 0 3.84 no_RAW_MQ -2.03E+00 2.8 ATGCCGGGCAGGTCAGGCAGGTAGGATGGAACATCAATCTCAGGCACCTG[G]CCCAGGTCTGGCACATAGAAGTAGTTCTCTGGGACCTGCAAGATTAGGCA pass XX . 0 1 0 chr1 17365 . C G 154.77 . AC=1;AF=0.500;AN=2;BaseQRankSum=0.621;ClippingRankSum=0.00;DP=43;ExcessHet=3.0103;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=43.91;MQRankSum=-1.245e+00;QD=3.60;ReadPosRankSum=-1.701e+00;SOR=0.485 GT:AD:DP:GQ:PGT:PID:PL 0/1:36,7:43:99:0|1:17365_C_G:183,0,2051 chr1 17365 17365 C G ncRNA_exonic WASH7P downstream MIR6859-3 rs369606208 0.2553 0.1603 0.221 0.3841 0.2245 0.2715 0.2581 0.2883 7.76E-05 12 154602 chr1:17365:17365:C:G 1 0.5 0.621 0 43 no_DS no_END 3.0103 0 no_HaplotypeScore no_InbreedingCoeff 1 0.5 43.91 -1.25E+00 3.6 no_RAW_MQ -1.70E+00 0.485 TGGGTCTTTGTTACAGCACCAGCCAGGGGGTCCAGGAAGACATACTTCTT[C]TACCTACAGAGGCGACATGGGGGTCAGGCAAGCTGACACCCGCTGTCCTG pass XX . 0 1 0