--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