--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