78 lines
25 KiB
Plaintext
78 lines
25 KiB
Plaintext
##fileformat=VCFv3.3
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##FILTER=ABFilter,"AB > 0.75"
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##FILTER=HRunFilter,"HRun > 3.0"
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##FILTER=QDFilter,"QD < 5.0"
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##FILTER=QUALFilter,"QUAL <= 50.0"
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##FILTER=SnpCluster,"SNPs found in clusters"
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##FORMAT=DP,1,Integer,"Read Depth (only filtered reads used for calling)"
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##FORMAT=GL,3,Float,"Log-scaled likelihoods for AA,AB,BB genotypes where A=ref and B=alt; not applicable if site is not biallelic"
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##FORMAT=GQ,1,Float,"Genotype Quality"
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##FORMAT=GT,1,String,"Genotype"
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##INFO=AB,1,Float,"Allele Balance for hets (ref/(ref+alt))"
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##INFO=AC,1,Integer,"Allele count in genotypes, for each ALT allele, in the same order as listed"
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##INFO=AF,1,Float,"Allele Frequency"
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##INFO=AN,1,Integer,"Total number of alleles in called genotypes"
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##INFO=DB,1,Integer,"dbSNP Membership"
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##INFO=DP,1,Integer,"Total Depth"
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##INFO=Dels,1,Float,"Fraction of Reads Containing Spanning Deletions"
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##INFO=HRun,1,Integer,"Largest Contiguous Homopolymer Run of Variant Allele In Either Direction"
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##INFO=HaplotypeScore,1,Float,"Consistency of the site with two (and only two) segregating haplotypes"
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##INFO=MQ,1,Float,"RMS Mapping Quality"
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##INFO=MQ0,1,Integer,"Total Mapping Quality Zero Reads"
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##INFO=QD,1,Float,"Variant Confidence/Quality by Depth"
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##INFO=SB,1,Float,"Strand Bias"
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##UG_assume_single_sample_reads=null
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##UG_base_model=EMPIRICAL
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##UG_genotype=false
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##UG_genotype_model=JOINT_ESTIMATE
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##UG_heterozygosity=0.0010
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##UG_max_deletion_fraction=0.05
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##UG_max_mismatches_in_40bp_window=3
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##UG_min_base_quality_score=20
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##UG_min_confidence_threshold=10.0
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##UG_min_mapping_quality_score=30
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##UG_noSLOD=false
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##UG_output_all_callable_bases=false
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##UG_platform=null
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##UG_poolSize=0
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##UG_use_reads_with_bad_mates=false
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##reference=Homo_sapiens_assembly18.fasta
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##source=UnifiedGenotyper
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##source=VariantFiltration
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##source=AnnotateVCFwithMAF
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##INFO=gene,1,String,gene
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##INFO=type,1,String,type
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##INFO=transcript,1,String,transcript
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##INFO=strand,1,String,strand
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##INFO=genomechange,1,String,genomechange
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##INFO=cDNAchange,1,String,cDNAchange
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##INFO=codonchange,1,String,codonchange
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##INFO=proteinchange,1,String,proteinchange
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#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A B C D E F G H I J K L M N O P Q R S
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1 20239 rs11266858 C T 34.26 QDFilter;QUALFilter AC=4;AF=1.00;AN=4;DP=10297;Dels=0.00;HRun=1;HaplotypeScore=251.76;MQ=0.84;MQ0=10279;QD=0.06;SB=-20.00;gene=WASH5P;type=Promoter;transcript=NR_024540;strand=-;genomechange=g.chr1:20239C>T GT:DP:GL:GQ ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 1/1:1:-4.46,-1.30,-1.00:3.01 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 1/1:1:-4.56,-1.30,-1.00:3.01
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1 59291 rs71245814 T G 188.10 QDFilter AC=2;AF=0.08;AN=24;DP=11187;Dels=0.00;HRun=0;HaplotypeScore=250.01;MQ=15.44;MQ0=6239;QD=0.31;SB=-120.00;gene=OR4F5;type=Missense;transcript=NM_001005484;strand=+;genomechange=g.chr1:59291T>G;cDNAchange=c.338T>G;codonchange=c.(337-339)TTT>TGT;proteinchange=p.F113C GT:DP:GL:GQ ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 0/0:3:-1.00,-1.90,-11.53:9.03 0/0:2:-1.00,-1.60,-8.33:6.02 0/0:1:-1.00,-1.30,-5.09:3.01 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 0/0:1:-1.00,-1.30,-4.49:3.01 0/0:5:-1.00,-2.51,-19.81:15.05 0/0:2:-1.00,-1.60,-8.99:6.02 0/0:2:-1.00,-1.60,-9.08:6.02 1/1:7:-23.50,-3.11,-1.00:21.05 0/0:12:-1.00,-4.61,-45.31:36.11 0/0:6:-1.00,-2.81,-23.47:18.05 0/0:4:-1.00,-2.20,-15.96:12.04 ./.:-1:0,0,0:-1 0/0:1:-1.00,-1.30,-4.69:3.01 ./.:-1:0,0,0:-1
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1 59374 rs2691305 A G 12695.56 QDFilter AB=0.42;AC=19;AF=0.79;AN=24;DP=6393;Dels=0.00;HRun=0;HaplotypeScore=339.12;MQ=18.39;MQ0=2887;QD=2.68;SB=-5423.38;gene=OR4F5;type=Missense;transcript=NM_001005484;strand=+;genomechange=g.chr1:59374A>G;cDNAchange=c.421A>G;codonchange=c.(421-423)ACA>GCA;proteinchange=p.T141A GT:DP:GL:GQ 1/1:35:-118.81,-11.55,-1.02:99.00 ./.:-1:0,0,0:-1 0/0:186:-1.07,-57.05,-721.11:99.00 1/1:45:-145.36,-14.57,-8.05:65.18 0/0:311:-1.11,-94.71,-1213.22:99.00 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 ./.:-1:0,0,0:-1 1/1:39:-126.82,-12.76,-1.03:99.00 1/1:20:-69.51,-7.03,-1.01:60.16 1/1:17:-57.56,-6.12,-1.01:51.13 1/1:38:-130.09,-12.45,-1.02:99.00 ./.:-1:0,0,0:-1 0/1:221:-214.55,-67.62,-599.48:99.00 1/1:30:-99.94,-10.04,-1.02:90.21 1/1:38:-127.22,-12.45,-5.18:72.75 ./.:-1:0,0,0:-1 1/1:53:-177.53,-16.97,-1.03:99.00 ./.:-1:0,0,0:-1
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1 867694 rs6672356 T C 1496.26 0 AC=32;AF=1.00;AN=32;DP=64;Dels=0.00;HRun=2;HaplotypeScore=11.53;MQ=92.29;MQ0=0;QD=23.75;SB=-709.56;gene=SAMD11;type=Missense;transcript=NM_152486;strand=+;genomechange=g.chr1:867694T>C;cDNAchange=c.1027T>C;codonchange=c.(1027-1029)TGG>CGG;proteinchange=p.W343R GT:DP:GL:GQ 1/1:2:-7.49,-1.60,-1.00:6.01 1/1:2:-8.06,-1.60,-1.00:6.02 1/1:2:-8.39,-1.60,-1.00:6.02 1/1:1:-4.40,-1.30,-1.00:3.01 1/1:2:-8.56,-1.60,-1.00:6.02 1/1:1:-4.97,-1.30,-1.00:3.01 1/1:5:-20.40,-2.51,-1.00:15.05 1/1:1:-4.20,-1.30,-1.00:3.01 1/1:5:-19.33,-2.51,-1.00:15.05 ./.:-1:0,0,0:-1 1/1:4:-16.33,-2.20,-1.00:12.04 1/1:2:-8.09,-1.60,-1.00:6.02 1/1:3:-12.29,-1.90,-1.00:9.03 ./.:-1:0,0,0:-1 1/1:4:-17.13,-2.20,-1.00:12.04 1/1:1:-4.60,-1.30,-1.00:3.01 ./.:-1:0,0,0:-1 1/1:4:-15.53,-2.21,-1.00:12.04 1/1:3:-10.69,-1.91,-1.01:9.01
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1 868048 . C T 11.82 ABFilter;QDFilter;QUALFilter AB=0.78;AC=1;AF=0.03;AN=30;DP=45;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=90.51;MQ0=0;QD=1.31;SB=-172.63;gene=SAMD11;type=Synonymous;transcript=NM_152486;strand=+;genomechange=g.chr1:868048C>T;cDNAchange=c.1311C>T;codonchange=c.(1309-1311)CCC>CCT;proteinchange=p.P437P GT:DP:GL:GQ 0/0:2:-1.00,-1.60,-7.96:6.02 0/0:1:-1.00,-1.30,-3.90:3.00 0/0:2:-1.00,-1.60,-7.54:6.02 0/1:8:-8.02,-3.41,-22.44:46.12 0/0:3:-1.00,-1.90,-12.01:9.03 0/0:2:-1.00,-1.60,-8.56:6.02 0/0:1:-1.00,-1.30,-4.87:3.01 ./.:-1:0,0,0:-1 0/0:1:-1.00,-1.30,-4.47:3.01 0/0:3:-1.00,-1.90,-13.21:9.03 0/0:3:-1.00,-1.90,-13.11:9.03 0/0:1:-1.00,-1.30,-5.07:3.01 0/0:2:-1.00,-1.60,-8.94:6.02 ./.:-1:0,0,0:-1 0/0:1:-1.00,-1.30,-4.37:3.01 ./.:-1:0,0,0:-1 0/0:2:-1.00,-1.60,-9.24:6.02 ./.:-1:0,0,0:-1 0/0:2:-1.00,-1.60,-8.06:6.01
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1 868177 . G C 37.99 QDFilter;QUALFilter AB=0.65;AC=2;AF=0.06;AN=34;DP=79;Dels=0.00;HRun=0;HaplotypeScore=10.03;MQ=94.48;MQ0=0;QD=4.75;SB=-202.42;gene=SAMD11;type=Synonymous;transcript=NM_152486;strand=+;genomechange=g.chr1:868177G>C;cDNAchange=c.1440G>C;codonchange=c.(1438-1440)GGG>GGC;proteinchange=p.G480G GT:DP:GL:GQ 0/1:2:-5.89,-1.60,-5.65:40.45 0/0:2:-1.00,-1.60,-10.58:6.02 0/0:3:-1.00,-1.90,-15.83:9.03 0/0:11:-1.00,-4.31,-52.44:33.11 0/0:7:-1.00,-3.11,-32.26:21.07 0/0:2:-1.00,-1.60,-10.64:6.02 0/0:4:-1.00,-2.20,-20.13:12.04 ./.:-1:0,0,0:-1 0/0:1:-1.00,-1.30,-5.09:3.01 0/1:5:-5.75,-2.51,-19.62:32.42 0/0:1:-1.00,-1.30,-5.75:3.01 0/0:6:-1.00,-2.81,-28.82:18.06 0/0:2:-1.00,-1.60,-10.34:6.02 0/0:3:-1.00,-1.90,-14.33:9.03 ./.:-1:0,0,0:-1 0/0:2:-1.00,-1.60,-9.84:6.02 0/0:3:-1.00,-1.90,-14.33:9.03 0/0:1:-1.00,-1.30,-5.05:3.01 0/0:3:-1.00,-1.90,-15.89:9.03
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1 868252 . C T 92.24 0 AB=0.56;AC=1;AF=0.03;AN=38;DP=292;Dels=0.00;HRun=0;HaplotypeScore=16.58;MQ=95.56;MQ0=0;QD=9.22;SB=-254.06;gene=SAMD11;type=Synonymous;transcript=NM_152486;strand=+;genomechange=g.chr1:868252C>T;cDNAchange=c.1515C>T;codonchange=c.(1513-1515)TCC>TCT;proteinchange=p.S505S GT:DP:GL:GQ 0/0:24:-1.00,-8.23,-94.73:72.23 0/0:10:-1.00,-4.01,-40.51:30.10 0/1:8:-16.25,-3.41,-16.80:99.00 0/0:25:-1.01,-8.53,-97.58:75.23 0/0:18:-1.00,-6.42,-70.39:54.17 0/0:14:-1.00,-5.22,-54.57:42.13 0/0:17:-1.00,-6.12,-64.35:51.15 0/0:4:-1.00,-2.20,-18.30:12.04 0/0:5:-1.00,-2.51,-20.54:15.05 0/0:11:-1.00,-4.31,-44.11:33.11 0/0:13:-1.00,-4.91,-52.84:39.13 0/0:20:-1.00,-7.02,-81.38:60.19 0/0:15:-1.00,-5.52,-57.75:45.14 0/0:8:-1.00,-3.41,-29.28:24.06 0/0:9:-1.00,-3.71,-36.14:27.08 0/0:10:-1.00,-4.01,-41.91:30.10 0/0:19:-1.00,-6.72,-76.56:57.19 0/0:20:-1.00,-7.02,-79.40:60.19 0/0:13:-1.00,-4.91,-53.80:39.12
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1 869180 rs7523549 C T 951.89 0 AB=0.36;AC=2;AF=0.05;AN=38;DP=796;Dels=0.00;HRun=0;HaplotypeScore=56.96;MQ=95.82;MQ0=0;QD=12.69;SB=-592.46;gene=SAMD11;type=Synonymous;transcript=NM_152486;strand=+;genomechange=g.chr1:869180C>T;cDNAchange=c.1830C>T;codonchange=c.(1828-1830)TAC>TAT;proteinchange=p.Y610Y GT:DP:GL:GQ 0/0:47:-1.02,-15.16,-166.68:99.00 0/0:34:-1.02,-11.25,-119.68:99.00 0/1:22:-47.64,-7.63,-35.38:99.00 0/0:50:-1.03,-16.07,-174.76:99.00 0/1:29:-68.84,-9.74,-40.28:99.00 0/0:37:-1.02,-12.15,-129.50:99.00 0/0:15:-1.01,-5.52,-55.25:45.14 0/0:7:-1.00,-3.11,-27.59:21.06 0/0:17:-1.01,-6.12,-61.52:51.15 0/0:30:-1.02,-10.04,-107.54:90.25 0/0:28:-1.01,-9.44,-99.66:84.24 0/0:32:-1.03,-10.65,-111.80:96.24 0/0:63:-1.04,-19.99,-222.52:99.00 0/0:39:-1.02,-12.75,-135.32:99.00 0/0:19:-1.01,-6.72,-72.58:57.17 0/0:34:-1.02,-11.25,-120.45:99.00 0/0:40:-4.71,-16.36,-143.05:99.00 0/0:57:-1.03,-18.18,-203.16:99.00 0/0:22:-1.01,-7.63,-80.85:66.19
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1 869180 rs7523549 C T 951.89 0 AB=0.36;AC=2;AF=0.05;AN=38;DP=796;Dels=0.00;HRun=0;HaplotypeScore=56.96;MQ=95.82;MQ0=0;QD=12.69;SB=-592.46;gene=SAMD11;type=Synonymous;transcript=NM_152486;strand=+;genomechange=g.chr1:869180C>T;cDNAchange=c.1830C>T;codonchange=c.(1828-1830)TAC>TAT;proteinchange=p.Y610Y GT:DP:GL:GQ 0/0:47:-1.02,-15.16,-166.68:99.00 0/0:34:-1.02,-11.25,-119.68:99.00 0/1:22:-47.64,-7.63,-35.38:99.00 0/0:50:-1.03,-16.07,-174.76:99.00 0/1:29:-68.84,-9.74,-40.28:99.00 0/0:37:-1.02,-12.15,-129.50:99.00 0/0:15:-1.01,-5.52,-55.25:45.14 0/0:7:-1.00,-3.11,-27.59:21.06 0/0:17:-1.01,-6.12,-61.52:51.15 0/0:30:-1.02,-10.04,-107.54:90.25 0/0:28:-1.01,-9.44,-99.66:84.24 0/0:32:-1.03,-10.65,-111.80:96.24 0/0:63:-1.04,-19.99,-222.52:99.00 0/0:39:-1.02,-12.75,-135.32:99.00 0/0:19:-1.01,-6.72,-72.58:57.17 0/0:34:-1.02,-11.25,-120.45:99.00 0/0:40:-4.71,-16.36,-143.05:99.00 0/0:57:-1.03,-18.18,-203.16:99.00 0/0:22:-1.01,-7.63,-80.85:66.19
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1 869180 rs7523549 C T 951.89 0 AB=0.36;AC=2;AF=0.05;AN=38;DP=796;Dels=0.00;HRun=0;HaplotypeScore=56.96;MQ=95.82;MQ0=0;QD=12.69;SB=-592.46;gene=SAMD11;type=Synonymous;transcript=NM_152486;strand=+;genomechange=g.chr1:869180C>T;cDNAchange=c.1830C>T;codonchange=c.(1828-1830)TAC>TAT;proteinchange=p.Y610Y GT:DP:GL:GQ 0/0:47:-1.02,-15.16,-166.68:99.00 0/0:34:-1.02,-11.25,-119.68:99.00 0/1:22:-47.64,-7.63,-35.38:99.00 0/0:50:-1.03,-16.07,-174.76:99.00 0/1:29:-68.84,-9.74,-40.28:99.00 0/0:37:-1.02,-12.15,-129.50:99.00 0/0:15:-1.01,-5.52,-55.25:45.14 0/0:7:-1.00,-3.11,-27.59:21.06 0/0:17:-1.01,-6.12,-61.52:51.15 0/0:30:-1.02,-10.04,-107.54:90.25 0/0:28:-1.01,-9.44,-99.66:84.24 0/0:32:-1.03,-10.65,-111.80:96.24 0/0:63:-1.04,-19.99,-222.52:99.00 0/0:39:-1.02,-12.75,-135.32:99.00 0/0:19:-1.01,-6.72,-72.58:57.17 0/0:34:-1.02,-11.25,-120.45:99.00 0/0:40:-4.71,-16.36,-143.05:99.00 0/0:57:-1.03,-18.18,-203.16:99.00 0/0:22:-1.01,-7.63,-80.85:66.19
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1 869180 rs7523549 C T 951.89 0 AB=0.36;AC=2;AF=0.05;AN=38;DP=796;Dels=0.00;HRun=0;HaplotypeScore=56.96;MQ=95.82;MQ0=0;QD=12.69;SB=-592.46;gene=SAMD11;type=Synonymous;transcript=NM_152486;strand=+;genomechange=g.chr1:869180C>T;cDNAchange=c.1830C>T;codonchange=c.(1828-1830)TAC>TAT;proteinchange=p.Y610Y GT:DP:GL:GQ 0/0:47:-1.02,-15.16,-166.68:99.00 0/0:34:-1.02,-11.25,-119.68:99.00 0/1:22:-47.64,-7.63,-35.38:99.00 0/0:50:-1.03,-16.07,-174.76:99.00 0/1:29:-68.84,-9.74,-40.28:99.00 0/0:37:-1.02,-12.15,-129.50:99.00 0/0:15:-1.01,-5.52,-55.25:45.14 0/0:7:-1.00,-3.11,-27.59:21.06 0/0:17:-1.01,-6.12,-61.52:51.15 0/0:30:-1.02,-10.04,-107.54:90.25 0/0:28:-1.01,-9.44,-99.66:84.24 0/0:32:-1.03,-10.65,-111.80:96.24 0/0:63:-1.04,-19.99,-222.52:99.00 0/0:39:-1.02,-12.75,-135.32:99.00 0/0:19:-1.01,-6.72,-72.58:57.17 0/0:34:-1.02,-11.25,-120.45:99.00 0/0:40:-4.71,-16.36,-143.05:99.00 0/0:57:-1.03,-18.18,-203.16:99.00 0/0:22:-1.01,-7.63,-80.85:66.19
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1 871490 rs2272757 G A 18896.06 0 AB=0.51;AC=20;AF=0.53;AN=38;DP=1147;Dels=0.00;HRun=1;HaplotypeScore=89.47;MQ=92.05;MQ0=0;QD=22.05;SB=-6308.25;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:871490G>A;cDNAchange=c.1843C>T;codonchange=c.(1843-1845)CTG>TTG;proteinchange=p.L615L GT:DP:GL:GQ 0/1:57:-132.28,-18.18,-86.07:99.00 0/1:62:-127.98,-19.67,-118.91:99.00 0/0:45:-1.01,-14.55,-171.63:99.00 0/0:79:-1.02,-24.79,-303.90:99.00 0/0:55:-1.01,-17.57,-208.00:99.00 0/1:40:-65.07,-13.05,-91.02:99.00 0/0:56:-1.02,-17.87,-210.80:99.00 1/1:15:-65.46,-5.52,-1.00:45.15 1/1:33:-144.91,-10.94,-1.00:99.00 0/1:34:-69.56,-11.24,-69.77:99.00 0/1:31:-73.63,-10.34,-53.73:99.00 1/1:54:-230.25,-17.26,-1.01:99.00 0/1:64:-125.61,-20.28,-131.67:99.00 1/1:54:-223.77,-17.27,-1.01:99.00 1/1:53:-222.64,-16.97,-1.01:99.00 0/1:56:-163.39,-17.87,-65.30:99.00 0/1:57:-93.53,-18.17,-131.08:99.00 0/1:69:-117.85,-21.79,-151.89:99.00 0/1:27:-29.61,-9.13,-80.75:99.00
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1 871781 rs35471880 G A 1919.46 0 AB=0.65;AC=3;AF=0.08;AN=38;DP=1936;Dels=0.00;HRun=1;HaplotypeScore=110.74;MQ=89.04;MQ0=148;QD=8.10;SB=-1108.82;gene=NOC2L;type=Missense;transcript=NM_015658;strand=-;genomechange=g.chr1:871781G>A;cDNAchange=c.1667C>T;codonchange=c.(1666-1668)TCG>TTG;proteinchange=p.S556L GT:DP:GL:GQ 0/0:91:-1.04,-28.42,-325.03:99.00 0/1:75:-127.57,-23.60,-158.91:99.00 0/0:76:-1.03,-23.90,-275.39:99.00 0/0:160:-1.06,-49.20,-582.55:99.00 0/0:61:-1.02,-19.38,-224.09:99.00 0/0:87:-1.04,-27.22,-313.67:99.00 0/0:74:-1.05,-23.30,-264.69:99.00 0/0:24:-1.01,-8.23,-91.85:72.21 0/0:49:-1.03,-15.77,-172.47:99.00 0/0:94:-1.05,-29.33,-341.84:99.00 0/0:71:-3.77,-22.39,-267.72:99.00 0/0:87:-1.03,-27.21,-328.07:99.00 0/0:82:-1.03,-25.70,-304.23:99.00 0/0:88:-1.04,-27.51,-319.18:99.00 0/0:88:-1.04,-27.51,-320.92:99.00 0/1:74:-75.22,-23.29,-212.47:99.00 0/0:108:-1.05,-33.54,-393.05:99.00 0/0:99:-1.04,-30.82,-369.30:99.00 0/1:36:-51.99,-11.85,-86.70:99.00
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1 877664 rs3828047 A G 39115.70 0 AB=0.59;AC=35;AF=0.92;AN=38;DP=1302;Dels=0.00;HRun=1;HaplotypeScore=68.27;MQ=88.11;MQ0=48;QD=30.04;SB=-12808.79;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:877664A>G;cDNAchange=c.1182T>C;codonchange=c.(1180-1182)ACT>ACC;proteinchange=p.T394T GT:DP:GL:GQ 1/1:65:-263.60,-20.57,-1.01:99.00 1/1:69:-287.59,-21.78,-1.01:99.00 1/1:65:-263.90,-20.57,-1.01:99.00 0/1:112:-168.69,-34.74,-288.58:99.00 0/1:49:-77.64,-15.76,-122.38:99.00 1/1:71:-284.11,-22.39,-1.02:99.00 1/1:55:-226.82,-17.56,-1.01:99.00 1/1:11:-49.12,-4.31,-1.00:33.11 1/1:31:-130.05,-10.33,-1.00:93.31 1/1:52:-210.10,-16.66,-1.01:99.00 1/1:52:-216.05,-16.66,-1.01:99.00 1/1:84:-347.36,-26.29,-1.01:99.00 1/1:61:-252.30,-19.37,-1.01:99.00 1/1:41:-162.77,-13.35,-1.01:99.00 1/1:56:-230.86,-17.86,-1.01:99.00 1/1:67:-281.43,-21.17,-1.01:99.00 0/1:74:-125.42,-23.29,-178.68:99.00 1/1:60:-247.37,-19.07,-1.01:99.00 1/1:20:-86.40,-7.02,-1.00:60.20
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1 878502 rs3748596 T C 34421.06 0 AB=0.47;AC=35;AF=0.92;AN=38;DP=1263;Dels=0.00;HRun=1;HaplotypeScore=42.12;MQ=81.25;MQ0=102;QD=27.25;SB=-9889.78;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:878502T>C;cDNAchange=c.918A>G;codonchange=c.(916-918)GAA>GAG;proteinchange=p.E306E GT:DP:GL:GQ 1/1:67:-264.76,-21.18,-1.01:99.00 1/1:51:-198.97,-16.36,-1.01:99.00 1/1:58:-223.62,-18.47,-1.01:99.00 0/1:119:-220.89,-36.84,-265.41:99.00 0/1:69:-150.47,-21.78,-132.97:99.00 1/1:52:-198.94,-16.66,-1.02:99.00 1/1:37:-144.84,-12.15,-1.01:99.00 1/1:8:-30.67,-3.41,-1.00:24.07 1/1:36:-134.29,-11.85,-1.02:99.00 1/1:38:-152.78,-12.44,-1.01:99.00 1/1:23:-90.12,-7.93,-1.01:69.21 1/1:74:-307.38,-23.28,-1.01:99.00 1/1:56:-224.23,-17.87,-1.01:99.00 1/1:52:-206.11,-16.66,-1.01:99.00 1/1:47:-185.59,-15.16,-1.02:99.00 1/1:55:-215.62,-17.56,-1.01:99.00 0/1:81:-154.97,-25.39,-178.21:99.00 1/1:69:-275.44,-21.78,-1.01:99.00 1/1:16:-62.41,-5.82,-1.01:48.15
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1 878522 rs3748597 T C 27167.83 0 AB=0.49;AC=35;AF=0.92;AN=38;DP=893;Dels=0.00;HRun=1;HaplotypeScore=30.74;MQ=85.15;MQ0=50;QD=30.42;SB=-4798.49;gene=NOC2L;type=Missense;transcript=NM_015658;strand=-;genomechange=g.chr1:878522T>C;cDNAchange=c.898A>G;codonchange=c.(898-900)ATC>GTC;proteinchange=p.I300V GT:DP:GL:GQ 1/1:47:-192.27,-15.15,-1.01:99.00 1/1:39:-166.57,-12.74,-1.00:99.00 1/1:42:-169.21,-13.65,-1.01:99.00 0/1:89:-171.83,-27.81,-183.63:99.00 0/1:53:-119.53,-16.96,-95.76:99.00 1/1:38:-156.46,-12.44,-1.01:99.00 1/1:21:-88.04,-7.32,-1.00:63.21 1/1:4:-18.98,-2.20,-1.00:12.04 1/1:36:-147.58,-11.84,-1.01:99.00 1/1:25:-106.02,-8.53,-1.00:75.24 1/1:20:-83.99,-7.02,-1.00:60.20 1/1:63:-259.16,-19.97,-1.01:99.00 1/1:37:-152.27,-12.14,-1.01:99.00 1/1:47:-182.97,-15.16,-1.01:99.00 1/1:36:-148.63,-15.35,-4.91:99.00 1/1:41:-169.09,-13.35,-1.01:99.00 0/1:52:-107.51,-16.66,-105.41:99.00 1/1:49:-206.96,-15.75,-1.01:99.00 1/1:16:-69.71,-5.82,-1.00:48.15
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1 879079 . G A 1590.97 0 AB=0.56;AC=1;AF=0.03;AN=38;DP=1171;Dels=0.00;HRun=0;HaplotypeScore=86.28;MQ=94.38;MQ0=3;QD=12.63;SB=-947.00;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:879079G>A;cDNAchange=c.834C>T;codonchange=c.(832-834)AGC>AGT;proteinchange=p.S278S GT:DP:GL:GQ 0/0:61:-1.02,-19.38,-222.23:99.00 0/0:47:-1.01,-15.16,-177.28:99.00 0/0:39:-1.01,-12.75,-143.72:99.00 0/1:104:-197.32,-34.60,-199.35:99.00 0/0:46:-1.01,-14.85,-170.73:99.00 0/0:45:-1.01,-14.55,-166.65:99.00 0/0:50:-1.02,-16.06,-185.76:99.00 0/0:15:-1.01,-5.52,-57.49:45.12 0/0:30:-1.01,-10.04,-108.94:90.26 0/0:47:-1.01,-15.16,-177.50:99.00 0/0:40:-1.01,-13.05,-150.34:99.00 0/0:78:-1.03,-24.50,-287.93:99.00 0/0:49:-1.02,-15.76,-181.80:99.00 0/0:37:-1.02,-12.15,-133.97:99.00 0/0:36:-1.01,-11.84,-138.35:99.00 0/0:53:-1.03,-16.97,-191.46:99.00 0/0:66:-1.02,-20.88,-244.37:99.00 0/0:72:-1.02,-22.69,-270.21:99.00 0/0:34:-1.01,-11.24,-126.40:99.00
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1 879079 . G A 1590.97 0 AB=0.56;AC=1;AF=0.03;AN=38;DP=1171;Dels=0.00;HRun=0;HaplotypeScore=86.28;MQ=94.38;MQ0=3;QD=12.63;SB=-947.00;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:879079G>A;cDNAchange=c.834C>T;codonchange=c.(832-834)AGC>AGT;proteinchange=p.S278S GT:DP:GL:GQ 0/0:61:-1.02,-19.38,-222.23:99.00 0/0:47:-1.01,-15.16,-177.28:99.00 0/0:39:-1.01,-12.75,-143.72:99.00 0/1:104:-197.32,-34.60,-199.35:99.00 0/0:46:-1.01,-14.85,-170.73:99.00 0/0:45:-1.01,-14.55,-166.65:99.00 0/0:50:-1.02,-16.06,-185.76:99.00 0/0:15:-1.01,-5.52,-57.49:45.12 0/0:30:-1.01,-10.04,-108.94:90.26 0/0:47:-1.01,-15.16,-177.50:99.00 0/0:40:-1.01,-13.05,-150.34:99.00 0/0:78:-1.03,-24.50,-287.93:99.00 0/0:49:-1.02,-15.76,-181.80:99.00 0/0:37:-1.02,-12.15,-133.97:99.00 0/0:36:-1.01,-11.84,-138.35:99.00 0/0:53:-1.03,-16.97,-191.46:99.00 0/0:66:-1.02,-20.88,-244.37:99.00 0/0:72:-1.02,-22.69,-270.21:99.00 0/0:34:-1.01,-11.24,-126.40:99.00
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1 879079 . G A 1590.97 0 AB=0.56;AC=1;AF=0.03;AN=38;DP=1171;Dels=0.00;HRun=0;HaplotypeScore=86.28;MQ=94.38;MQ0=3;QD=12.63;SB=-947.00;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:879079G>A;cDNAchange=c.834C>T;codonchange=c.(832-834)AGC>AGT;proteinchange=p.S278S GT:DP:GL:GQ 0/0:61:-1.02,-19.38,-222.23:99.00 0/0:47:-1.01,-15.16,-177.28:99.00 0/0:39:-1.01,-12.75,-143.72:99.00 0/1:104:-197.32,-34.60,-199.35:99.00 0/0:46:-1.01,-14.85,-170.73:99.00 0/0:45:-1.01,-14.55,-166.65:99.00 0/0:50:-1.02,-16.06,-185.76:99.00 0/0:15:-1.01,-5.52,-57.49:45.12 0/0:30:-1.01,-10.04,-108.94:90.26 0/0:47:-1.01,-15.16,-177.50:99.00 0/0:40:-1.01,-13.05,-150.34:99.00 0/0:78:-1.03,-24.50,-287.93:99.00 0/0:49:-1.02,-15.76,-181.80:99.00 0/0:37:-1.02,-12.15,-133.97:99.00 0/0:36:-1.01,-11.84,-138.35:99.00 0/0:53:-1.03,-16.97,-191.46:99.00 0/0:66:-1.02,-20.88,-244.37:99.00 0/0:72:-1.02,-22.69,-270.21:99.00 0/0:34:-1.01,-11.24,-126.40:99.00
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1 879079 . G A 1590.97 0 AB=0.56;AC=1;AF=0.03;AN=38;DP=1171;Dels=0.00;HRun=0;HaplotypeScore=86.28;MQ=94.38;MQ0=3;QD=12.63;SB=-947.00;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:879079G>A;cDNAchange=c.834C>T;codonchange=c.(832-834)AGC>AGT;proteinchange=p.S278S GT:DP:GL:GQ 0/0:61:-1.02,-19.38,-222.23:99.00 0/0:47:-1.01,-15.16,-177.28:99.00 0/0:39:-1.01,-12.75,-143.72:99.00 0/1:104:-197.32,-34.60,-199.35:99.00 0/0:46:-1.01,-14.85,-170.73:99.00 0/0:45:-1.01,-14.55,-166.65:99.00 0/0:50:-1.02,-16.06,-185.76:99.00 0/0:15:-1.01,-5.52,-57.49:45.12 0/0:30:-1.01,-10.04,-108.94:90.26 0/0:47:-1.01,-15.16,-177.50:99.00 0/0:40:-1.01,-13.05,-150.34:99.00 0/0:78:-1.03,-24.50,-287.93:99.00 0/0:49:-1.02,-15.76,-181.80:99.00 0/0:37:-1.02,-12.15,-133.97:99.00 0/0:36:-1.01,-11.84,-138.35:99.00 0/0:53:-1.03,-16.97,-191.46:99.00 0/0:66:-1.02,-20.88,-244.37:99.00 0/0:72:-1.02,-22.69,-270.21:99.00 0/0:34:-1.01,-11.24,-126.40:99.00
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1 879079 . G A 1590.97 0 AB=0.56;AC=1;AF=0.03;AN=38;DP=1171;Dels=0.00;HRun=0;HaplotypeScore=86.28;MQ=94.38;MQ0=3;QD=12.63;SB=-947.00;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:879079G>A;cDNAchange=c.834C>T;codonchange=c.(832-834)AGC>AGT;proteinchange=p.S278S GT:DP:GL:GQ 0/0:61:-1.02,-19.38,-222.23:99.00 0/0:47:-1.01,-15.16,-177.28:99.00 0/0:39:-1.01,-12.75,-143.72:99.00 0/1:104:-197.32,-34.60,-199.35:99.00 0/0:46:-1.01,-14.85,-170.73:99.00 0/0:45:-1.01,-14.55,-166.65:99.00 0/0:50:-1.02,-16.06,-185.76:99.00 0/0:15:-1.01,-5.52,-57.49:45.12 0/0:30:-1.01,-10.04,-108.94:90.26 0/0:47:-1.01,-15.16,-177.50:99.00 0/0:40:-1.01,-13.05,-150.34:99.00 0/0:78:-1.03,-24.50,-287.93:99.00 0/0:49:-1.02,-15.76,-181.80:99.00 0/0:37:-1.02,-12.15,-133.97:99.00 0/0:36:-1.01,-11.84,-138.35:99.00 0/0:53:-1.03,-16.97,-191.46:99.00 0/0:66:-1.02,-20.88,-244.37:99.00 0/0:72:-1.02,-22.69,-270.21:99.00 0/0:34:-1.01,-11.24,-126.40:99.00
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1 879101 rs3828049 G A 1062.06 0 AB=0.41;AC=1;AF=0.03;AN=38;DP=1083;Dels=0.00;HRun=0;HaplotypeScore=97.46;MQ=95.02;MQ0=3;QD=14.75;SB=-676.98;gene=NOC2L;type=Missense;transcript=NM_015658;strand=-;genomechange=g.chr1:879101G>A;cDNAchange=c.812C>T;codonchange=c.(811-813)GCG>GTG;proteinchange=p.A271V GT:DP:GL:GQ 0/0:57:-1.02,-18.17,-209.46:99.00 0/0:41:-1.02,-13.36,-147.69:99.00 0/0:36:-1.01,-11.84,-132.91:99.00 0/0:100:-1.04,-31.13,-367.15:99.00 0/0:64:-1.03,-20.28,-234.94:99.00 0/0:52:-1.02,-16.67,-188.58:99.00 0/0:46:-1.02,-14.86,-170.32:99.00 0/0:11:-1.00,-4.31,-45.76:33.11 0/0:30:-1.01,-10.04,-110.14:90.26 0/0:43:-1.01,-13.95,-164.41:99.00 0/0:40:-1.01,-13.05,-153.48:99.00 0/0:74:-1.02,-23.29,-279.61:99.00 0/0:47:-1.02,-15.16,-174.80:99.00 0/0:30:-1.01,-10.04,-112.71:90.28 0/0:38:-1.01,-12.45,-147.53:99.00 0/0:47:-1.02,-15.16,-178.55:99.00 0/1:62:-129.52,-19.69,-101.66:99.00 0/0:68:-1.02,-21.48,-256.06:99.00 0/0:31:-1.01,-10.34,-121.45:93.29
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1 879118 . C T 1627.36 0 AB=0.47;AC=1;AF=0.03;AN=38;DP=1015;Dels=0.00;HRun=0;HaplotypeScore=53.53;MQ=96.46;MQ0=0;QD=16.27;SB=-904.59;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:879118C>T;cDNAchange=c.795G>A;codonchange=c.(793-795)TCG>TCA;proteinchange=p.S265S GT:DP:GL:GQ 0/0:63:-1.03,-19.98,-230.20:99.00 0/0:52:-1.03,-16.67,-188.85:99.00 0/0:38:-1.01,-12.45,-140.23:99.00 0/1:89:-194.17,-27.81,-151.48:99.00 0/0:66:-1.04,-20.89,-232.73:99.00 0/0:56:-1.02,-17.87,-208.46:99.00 0/0:35:-1.01,-11.54,-131.69:99.00 0/0:8:-1.00,-3.41,-32.31:24.08 0/0:31:-1.01,-10.34,-118.15:93.29 0/0:43:-1.02,-13.96,-158.26:99.00 0/0:40:-1.02,-13.05,-147.15:99.00 0/0:70:-1.02,-22.09,-259.14:99.00 0/0:45:-1.02,-14.56,-167.52:99.00 0/0:37:-1.03,-12.15,-128.11:99.00 0/0:38:-1.01,-12.45,-143.44:99.00 0/0:48:-1.01,-15.46,-183.14:99.00 0/0:57:-1.01,-18.17,-216.03:99.00 0/0:65:-1.03,-20.58,-243.78:99.00 0/0:26:-1.01,-8.83,-97.68:78.23
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1 881222 . G A 4447.24 0 AB=0.54;AC=1;AF=0.03;AN=38;DP=2864;Dels=0.00;HRun=0;HaplotypeScore=81.28;MQ=96.88;MQ0=0;QD=18.61;SB=-967.71;gene=NOC2L;type=Synonymous;transcript=NM_015658;strand=-;genomechange=g.chr1:881222G>A;cDNAchange=c.642C>T;codonchange=c.(640-642)GAC>GAT;proteinchange=p.D214D GT:DP:GL:GQ 0/0:173:-1.03,-53.10,-694.63:99.00 0/0:142:-1.03,-43.77,-587.91:99.00 0/0:142:-1.03,-43.76,-560.52:99.00 0/1:230:-426.29,-70.28,-504.53:99.00 0/0:143:-1.02,-44.06,-578.31:99.00 0/0:151:-1.02,-46.47,-618.02:99.00 0/0:141:-1.03,-43.46,-565.72:99.00 0/0:27:-1.00,-9.13,-116.15:81.27 0/0:131:-1.02,-40.45,-536.66:99.00 0/0:145:-1.03,-44.67,-587.89:99.00 0/0:119:-1.02,-36.83,-492.17:99.00 0/0:182:-1.03,-55.80,-749.93:99.00 0/0:163:-1.03,-50.08,-656.76:99.00 0/0:137:-1.04,-42.27,-526.34:99.00 0/0:109:-1.02,-33.82,-448.37:99.00 0/0:156:-1.03,-47.98,-644.14:99.00 0/0:147:-1.03,-45.27,-598.93:99.00 0/0:146:-1.02,-44.96,-604.26:99.00 0/0:45:-1.01,-14.55,-191.49:99.00
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1 886617 . G A 428.11 0 AB=0.33;AC=1;AF=0.03;AN=36;DP=272;Dels=0.00;HRun=1;HaplotypeScore=51.14;MQ=94.78;MQ0=0;QD=20.39;SB=-215.53;gene=KLHL17;type=Synonymous;transcript=NM_198317;strand=+;genomechange=g.chr1:886617G>A;cDNAchange=c.189G>A;codonchange=c.(187-189)GAG>GAA;proteinchange=p.E63E GT:DP:GL:GQ 0/0:19:-1.01,-6.72,-68.77:57.17 0/0:14:-1.01,-5.22,-50.09:42.12 ./.:-1:0,0,0:-1 0/0:11:-1.01,-4.32,-38.60:33.09 0/0:2:-1.00,-1.60,-7.79:6.02 0/0:12:-1.01,-4.62,-43.85:36.11 0/0:4:-1.00,-2.21,-15.78:12.04 0/0:4:-1.00,-2.20,-15.88:12.04 0/0:6:-1.00,-2.81,-23.45:18.06 0/0:3:-1.00,-1.90,-12.09:9.03 0/0:6:-1.00,-2.81,-21.82:18.04 0/1:15:-51.89,-5.52,-12.04:65.17 0/0:12:-1.01,-4.62,-41.83:36.09 0/0:12:-1.01,-4.62,-45.13:36.11 0/0:12:-1.00,-4.61,-45.47:36.11 0/0:9:-1.00,-3.71,-33.01:27.07 0/0:20:-1.01,-7.03,-71.42:60.17 0/0:14:-1.01,-5.22,-51.59:42.13 0/0:5:-1.00,-2.51,-20.25:15.05
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1 887188 rs4970441 G C 101993.40 0 AB=0.56;AC=31;AF=0.82;AN=38;DP=3409;Dels=0.00;HRun=1;HaplotypeScore=150.66;MQ=97.50;MQ0=0;QD=33.73;SB=-43875.18;gene=KLHL17;type=Synonymous;transcript=NM_198317;strand=+;genomechange=g.chr1:887188G>C;cDNAchange=c.609G>C;codonchange=c.(607-609)GCG>GCC;proteinchange=p.A203A GT:DP:GL:GQ 1/1:162:-762.79,-58.62,-10.83:99.00 1/1:181:-874.92,-55.52,-1.03:99.00 0/1:211:-455.76,-64.57,-512.77:99.00 0/0:335:-1.11,-101.95,-1478.29:99.00 0/1:178:-388.80,-54.63,-424.45:99.00 1/1:131:-628.01,-40.46,-1.02:99.00 1/1:157:-754.93,-48.30,-1.04:99.00 1/1:45:-231.02,-14.55,-1.00:99.00 1/1:78:-370.67,-24.50,-1.02:99.00 1/1:128:-618.16,-39.55,-1.02:99.00 1/1:123:-601.95,-38.04,-1.02:99.00 1/1:174:-837.17,-56.33,-4.59:99.00 1/1:159:-763.35,-48.88,-1.02:99.00 1/1:133:-613.23,-41.07,-1.04:99.00 1/1:109:-518.27,-33.84,-1.03:99.00 1/1:164:-779.22,-50.41,-1.04:99.00 0/1:197:-410.72,-60.35,-506.73:99.00 0/1:233:-450.39,-71.19,-627.22:99.00 0/1:79:-138.86,-28.37,-239.24:99.00
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