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| ##fileformat=VCFv4.2 | |
| ##FILTER=<ID=LowQual,Description="Low quality"> | |
| ##FORMAT=<ID=AD,Number=R,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=Integer,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"> | |
| ##GATKCommandLine=<ID=HaplotypeCaller,CommandLine="HaplotypeCaller --output output.vcf --input output.bam --reference GCF_000001405.26_GRCh38_genomic.fna --use-posteriors-to-calculate-qual false --dont-use-dragstr-priors false --use-new-qual-calculator true --annotate-with-num-discovered-alleles false --heterozygosity 0.001 --indel-heterozygosity 1.25E-4 --heterozygosity-stdev 0.01 --standard-min-confidence-threshold-for-calling 30.0 --m |
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| ##fileformat=VCFv4.1 | |
| ##fileDate=2026-05-03 | |
| ##source=ClinVar | |
| ##reference=GRCh38 | |
| ##ID=<Description="ClinVar Variation ID"> | |
| ##INFO=<ID=AF_ESP,Number=1,Type=Float,Description="allele frequencies from GO-ESP"> | |
| ##INFO=<ID=AF_EXAC,Number=1,Type=Float,Description="allele frequencies from ExAC"> | |
| ##INFO=<ID=AF_TGP,Number=1,Type=Float,Description="allele frequencies from TGP"> | |
| ##INFO=<ID=ALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID"> | |
| ##INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB"> |