##reference=file://\Genomes\Homo_sapiens\UCSC\hg19\Sequence\WholeGenomeFASTA\genome.fa ##gvcftools_version="0.12.1" ##gvcftools_cmdline="C:\Illumina\MiSeq Reporter\Workflows\PcrAmpliconWorker\gatk_to_gvcf.exe --no-default-filters --min-qd 0.0000 --min-gqx 10.0000 --min-mq 0.0000" ##source=GATK 1.6 ##source_20170411.1=vcf-merge(v0.1.14-12-gcdb80b8) CK-F27NA_S42.genome.vcf.gz CV-F08AN_S49.genome.vcf.gz F06NA-JB_S14.genome.vcf.gz F11NA_S17.genome.vcf.gz F12AN-SS-Repeat_S2.genome.vcf.gz F12AN-SS_S1.genome.vcf.gz F13NA_S4.genome.vcf.gz F14AN_S5.genome.vcf.gz F15AN-BP_S8.genome.vcf.gz F17NA_S29.genome.vcf.gz F19NA_S6.genome.vcf.gz F20AN-LP_S3.genome.vcf.gz F23NA_S45.genome.vcf.gz F25NA_S36.genome.vcf.gz F32AN_S23.genome.vcf.gz F33NA_S44.genome.vcf.gz F38AN_S43.genome.vcf.gz F50an_S48.genome.vcf.gz F52AN_S30.genome.vcf.gz F54AN_S33.genome.vcf.gz F56AN_S32.genome.vcf.gz F66AN_S51.genome.vcf.gz FA2AN_S37.genome.vcf.gz FO1AN-Repeat_S38.genome.vcf.gz FO1AN_S9.genome.vcf.gz FO3AN-EMT_S10.genome.vcf.gz FO5NA-JS_S13.genome.vcf.gz Furan-TC_S21.genome.vcf.gz IG-M24AN_S27.genome.vcf.gz IO-M43NA_S50.genome.vcf.gz JM-MO4AN_S12.genome.vcf.gz JW-FS0AN_S24.genome.vcf.gz LC-F29NA_S35.genome.vcf.gz M09NA_S31.genome.vcf.gz M10AN_S7.genome.vcf.gz M21NA_S39.genome.vcf.gz M28AN-RL_S40.genome.vcf.gz M39NA_S20.genome.vcf.gz M47NA_S22.genome.vcf.gz M62AN_S53.genome.vcf.gz M68AN_S52.genome.vcf.gz MMI-F40AN-BIP4-FM_S34.genome.vcf.gz MN22NAD_S41.genome.vcf.gz MO2AN-EG_S11.genome.vcf.gz MO4AN-JM_S15.genome.vcf.gz MO7AN-Repeat_S18.genome.vcf.gz MO7AN_S16.genome.vcf.gz RF-F46AN_S28.genome.vcf.gz RT-F30AN_S46.genome.vcf.gz f44AN_S19.genome.vcf.gz f47NA_S47.genome.vcf.gz f49na_S26.genome.vcf.gz f51na_S25.genome.vcf.gz ##sourceFiles_20170411.1=0:CK-F27NA_S42.genome.vcf.gz,1:CV-F08AN_S49.genome.vcf.gz,2:F06NA-JB_S14.genome.vcf.gz,3:F11NA_S17.genome.vcf.gz,4:F12AN-SS-Repeat_S2.genome.vcf.gz,5:F12AN-SS_S1.genome.vcf.gz,6:F13NA_S4.genome.vcf.gz,7:F14AN_S5.genome.vcf.gz,8:F15AN-BP_S8.genome.vcf.gz,9:F17NA_S29.genome.vcf.gz,10:F19NA_S6.genome.vcf.gz,11:F20AN-LP_S3.genome.vcf.gz,12:F23NA_S45.genome.vcf.gz,13:F25NA_S36.genome.vcf.gz,14:F32AN_S23.genome.vcf.gz,15:F33NA_S44.genome.vcf.gz,16:F38AN_S43.genome.vcf.gz,17:F50an_S48.genome.vcf.gz,18:F52AN_S30.genome.vcf.gz,19:F54AN_S33.genome.vcf.gz,20:F56AN_S32.genome.vcf.gz,21:F66AN_S51.genome.vcf.gz,22:FA2AN_S37.genome.vcf.gz,23:FO1AN-Repeat_S38.genome.vcf.gz,24:FO1AN_S9.genome.vcf.gz,25:FO3AN-EMT_S10.genome.vcf.gz,26:FO5NA-JS_S13.genome.vcf.gz,27:Furan-TC_S21.genome.vcf.gz,28:IG-M24AN_S27.genome.vcf.gz,29:IO-M43NA_S50.genome.vcf.gz,30:JM-MO4AN_S12.genome.vcf.gz,31:JW-FS0AN_S24.genome.vcf.gz,32:LC-F29NA_S35.genome.vcf.gz,33:M09NA_S31.genome.vcf.gz,34:M10AN_S7.genome.vcf.gz,35:M21NA_S39.genome.vcf.gz,36:M28AN-RL_S40.genome.vcf.gz,37:M39NA_S20.genome.vcf.gz,38:M47NA_S22.genome.vcf.gz,39:M62AN_S53.genome.vcf.gz,40:M68AN_S52.genome.vcf.gz,41:MMI-F40AN-BIP4-FM_S34.genome.vcf.gz,42:MN22NAD_S41.genome.vcf.gz,43:MO2AN-EG_S11.genome.vcf.gz,44:MO4AN-JM_S15.genome.vcf.gz,45:MO7AN-Repeat_S18.genome.vcf.gz,46:MO7AN_S16.genome.vcf.gz,47:RF-F46AN_S28.genome.vcf.gz,48:RT-F30AN_S46.genome.vcf.gz,49:f44AN_S19.genome.vcf.gz,50:f47NA_S47.genome.vcf.gz,51:f49na_S26.genome.vcf.gz,52:f51na_S25.genome.vcf.gz ##INFO= ##INFO= ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CK-F27NA CV-F08AN F06NA-JB F11NA F12AN-SS-Repeat F12AN-SS F13NA F14AN F15AN-BP F17NA F19NA F20AN-LP F23NA F25NA F32AN F33NA F38AN F50an F52AN F54AN F56AN F66AN FA2AN FO1AN-Repeat FO1AN FO3AN-EMT FO5NA-JS Furan-TC IG-M24AN IO-M43NA JM-MO4AN JW-FS0AN LC-F29NA M09NA M10AN M21NA M28AN-RL M39NA M47NA M62AN M68AN MMI-F40AN-BIP4-FM MN22NAD MO2AN-EG MO4AN-JM MO7AN-Repeat MO7AN RF-F46AN RT-F30AN f44AN f47NA f49na f51na chr22 19951229 . G . . PASS AC=0;AN=106;BLOCKAVG_min30p3a;END=19951270;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52 GT:MQ:DP:GQX 0/0:60:3726:99 0/0:60:3233:99 0/0:60:4124:99 0/0:60:4357:99 0/0:60:3603:99 0/0:60:4413:99 0/0:60:4296:99 0/0:60:4988:99 0/0:60:4924:99 0/0:60:4125:99 0/0:60:4262:99 0/0:60:4954:99 0/0:60:3528:99 0/0:60:3502:99 0/0:60:4464:99 0/0:60:4237:99 0/0:60:3835:99 0/0:60:3380:99 0/0:60:4867:99 0/0:60:4183:99 0/0:60:3930:99 0/0:60:3877:99 0/0:60:3899:99 0/0:60:3900:99 0/0:60:4391:99 0/0:60:1775:99 0/0:60:3932:99 0/0:60:4996:99 0/0:60:4701:99 0/0:60:2609:99 0/0:60:4996:99 0/0:60:2390:99 0/0:60:4440:99 0/0:60:4481:99 0/0:60:4994:99 0/0:60:4996:99 0/0:60:3897:99 0/0:60:4857:99 0/0:60:4993:99 0/0:60:3611:99 0/0:60:3513:99 0/0:60:3358:99 0/0:60:4986:99 0/0:60:4994:99 0/0:60:4994:99 0/0:60:4550:99 0/0:60:3775:99 0/0:60:3546:99 0/0:60:4996:99 0/0:60:4994:99 0/0:60:3549:99 0/0:60:4149:99 0/0:60:3724:99 chr22 19951237 rs8192488 C T 43236.76 PASS AC=1;AN=2;BaseQRankSum=18.671;DP=4238;Dels=0.00;EXON;FC=Synonymous_A146A,Synonymous_A146A,Synonymous_A146A,Synonymous_A96A;FS=0.335;GI=COMT,COMT,COMT,COMT;HRun=0;HaplotypeScore=312.5883;MQ0=0;MQ=60;MQRankSum=0.292;QD=10.20;ReadPosRankSum=-0.150;SB=-37360.60;SF=15;TI=NM_000754,NM_001135161,NM_001135162,NM_007310 GT:MQ:GQ:DP:VF:GQX:PL:AD . . . . . . . . . . . . . . . 0/1:60:99:4238:0.523:99:43237,0,38686:2019,2218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19951238 . G . . PASS AC=0;AN=2;BLOCKAVG_min30p3a;END=19951297;SF=15 GT:MQ:DP:GQX . . . . . . . . . . . . . . . 0/0:60:4234:99 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . chr22 19951271 rs4680 G A 63681.55 PASS AC=48;AN=70;BaseQRankSum=16.837;DP=146789;DS;Dels=0.00;EXON;FC=Missense_V158M,Missense_V158M,Missense_V158M,Missense_V108M;FS=0.881;GI=COMT,COMT,COMT,COMT;HRun=0;HaplotypeScore=343.3303;MQ0=0;MQ=60;MQRankSum=-1.344;QD=10.50;ReadPosRankSum=0.610;SB=-34171.72;SF=0,1,2,6,8,9,10,11,12,13,14,16,17,18,19,20,21,22,23,24,26,27,28,33,35,36,37,38,40,41,43,47,49,51,52;TI=NM_000754,NM_001135161,NM_001135162,NM_007310 GT:MQ:GQ:DP:VF:GQX:PL:AD 0/1:60:99:3736:0.537:99:39235,0,32898:1729,2003 0/1:60:99:3241:0.564:99:36021,0,26558:1413,1827 0/1:60:99:4132:0.536:99:43428,0,36551:1913,2213 . . . 0/1:60:99:4301:0.536:99:45021,0,37877:1995,2304 . 0/1:60:99:4936:0.538:99:51973,0,43205:2278,2656 0/1:60:99:4139:0.542:99:44126,0,36076:1896,2240 0/1:60:99:4277:0.500:99:41428,0,41199:2137,2137 0/1:60:99:4964:0.546:99:53190,0,42619:2253,2707 0/1:60:99:3536:0.558:99:38803,0,29517:1561,1973 0/1:60:99:3506:0.533:99:36489,0,31360:1638,1866 1/1:60:99:4470:0.994:99:98940,6189,0:28,4440 . 0/1:60:99:3839:0.553:99:41740,0,32299:1714,2123 0/1:60:99:3382:0.583:99:38837,0,26322:1409,1966 0/1:60:99:4875:0.507:99:47878,0,46071:2403,2469 1/1:60:99:4189:0.992:99:92550,5693,0:32,4155 1/1:60:99:3942:0.995:99:87222,5542,0:18,3918 1/1:60:99:3885:0.995:99:86010,5505,0:19,3861 0/1:60:99:3905:0.552:99:42439,0,33124:1748,2156 1/1:60:99:3908:0.994:99:86449,5375,0:25,3880 1/1:60:99:4397:0.996:99:97665,6282,0:17,4377 . 1/1:60:99:3938:0.996:99:87375,5627,0:17,3915 0/1:60:99:5000:0.583:99:63049,0,42538:2085,2914 0/1:60:99:4710:0.585:99:54499,0,36234:1950,2753 . . . . 1/1:60:99:4490:0.995:99:99493,6280,0:23,4465 . 0/1:60:99:5000:0.505:99:61828,0,60347:2473,2521 1/1:60:99:3904:0.995:99:86402,5526,0:20,3879 1/1:60:99:4867:0.996:99:107774,6857,0:21,4842 1/1:60:99:5000:0.994:99:121597,7818,0:30,4962 . 1/1:60:99:3520:0.996:99:78115,5002,0:14,3505 0/1:60:99:3363:0.543:99:35846,0,28861:1535,1826 . 0/1:60:99:4999:0.561:99:57929,0,43433:2192,2804 . . . 1/1:60:99:3552:0.993:99:78065,4770,0:26,3524 . 0/1:60:99:4999:0.513:99:59394,0,55175:2435,2560 . 0/1:60:99:4155:0.568:99:46391,0,33767:1794,2357 0/1:60:99:3729:0.567:99:41654,0,30275:1613,2113 chr22 19951272 . T . . PASS AC=0;AN=70;BLOCKAVG_min30p3a;END=19951297;SF=0,1,2,6,8,9,10,11,12,13,14,16,17,18,19,20,21,22,23,24,26,27,28,33,35,36,37,38,40,41,43,47,49,51,52 GT:MQ:DP:GQX 0/0:60:3734:99 0/0:60:3239:99 0/0:60:4128:99 . . . 0/0:60:4299:99 . 0/0:60:4934:99 0/0:60:4137:99 0/0:60:4275:99 0/0:60:4961:99 0/0:60:3535:99 0/0:60:3502:99 0/0:60:4463:99 . 0/0:60:3835:99 0/0:60:3381:99 0/0:60:4875:99 0/0:60:4183:99 0/0:60:3940:99 0/0:60:3881:99 0/0:60:3901:99 0/0:60:3904:99 0/0:60:4397:99 . 0/0:60:3934:99 0/0:60:4998:99 0/0:60:4704:99 . . . . 0/0:60:4488:99 . 0/0:60:4997:99 0/0:60:3902:99 0/0:60:4865:99 0/0:60:4998:99 . 0/0:60:3518:99 0/0:60:3361:99 . 0/0:60:4996:99 . . . 0/0:60:3550:99 . 0/0:60:4995:99 . 0/0:60:4153:99 0/0:60:3727:99