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October 28, 2015 20:13
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##fileformat=VCFv4.1 | |
##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed"> | |
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)"> | |
##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype Quality"> | |
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | |
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification"> | |
##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed"> | |
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed"> | |
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> | |
##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities"> | |
##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered"> | |
##INFO=<ID=DS,Number=0,Type=Flag,Description="Were any of the samples downsampled?"> | |
##INFO=<ID=Dels,Number=1,Type=Float,Description="Fraction of Reads Containing Spanning Deletions"> | |
##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias"> | |
##INFO=<ID=HRun,Number=1,Type=Integer,Description="Largest Contiguous Homopolymer Run of Variant Allele In Either Direction"> | |
##INFO=<ID=HaplotypeScore,Number=1,Type=Float,Description="Consistency of the site with at most two segregating haplotypes"> | |
##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation"> | |
##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality"> | |
##INFO=<ID=MQ0,Number=1,Type=Integer,Description="Total Mapping Quality Zero Reads"> | |
##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities"> | |
##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth"> | |
##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias"> | |
##contig=<ID=6,length=171115067,assembly=hg19> | |
##SnpEffVersion="4.1g (build 2015-05-17), by Pablo Cingolani" | |
##SnpEffCmd="SnpEff GRCh37.75 -formatEff -classic /tmp/test.nextprot.vcf " | |
##INFO=<ID=EFF,Number=.,Type=String,Description="Predicted effects for this variant.Format: 'Effect ( Effect_Impact | Functional_Class | Codon_Change | Amino_Acid_Change| Amino_Acid_length | Gene_Name | Transcript_BioType | Gene_Coding | Transcript_ID | Exon_Rank | Genotype_Number [ | ERRORS | WARNINGS ] )' "> | |
##INFO=<ID=LOF,Number=.,Type=String,Description="Predicted loss of function effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' "> | |
##INFO=<ID=NMD,Number=.,Type=String,Description="Predicted nonsense mediated decay effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' "> | |
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 1094PC0005 | |
6 34950531 . G A . PASS EFF=SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T245|1134|ANKS1A|protein_coding|CODING|ENST00000360359|5|A),SPLICE_SITE_REGION+SYNONYMOUS_CODING(LOW|SILENT|acG/acA|T245|320|ANKS1A|protein_coding|CODING|ENST00000535627|5|A) GT:AD:BQ:DP:FREQ:SS 0/1:38,34:36:72:0.472:2 | |
6 170862300 . G C . PASS EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P11A|241|PSMB1|protein_coding|CODING|ENST00000262193|1|C),NEXT_PROT[maturation_peptide](LOW||||241|PSMB1|protein_coding|CODING|||C),UPSTREAM(MODIFIER||1167||339|TBP|protein_coding|CODING|ENST00000230354||C),UPSTREAM(MODIFIER||2771|||PSMB1|processed_transcript|CODING|ENST00000462957||C),UPSTREAM(MODIFIER||1090||207|TBP|protein_coding|CODING|ENST00000421512||C|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||1121||339|TBP|protein_coding|CODING|ENST00000392092||C),UPSTREAM(MODIFIER||1121||319|TBP|protein_coding|CODING|ENST00000540980||C),UPSTREAM(MODIFIER||1393||149|TBP|protein_coding|CODING|ENST00000423353||C|WARNING_TRANSCRIPT_INCOMPLETE) GT:AD:DP:GQ:PL 1/1:0,108:108:99:3610,324,0 |
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