Could you please explain me, why 0/0 genotypes in vcf are SNPs? According to this description of GT:
0/0 the sample is a homozygous reference 0/1 the sample is heterozygous (carries both reference and alternate alleles) 1/1 the sample is a homozygous alternate ./. No genotype called or missing genotype
Based on this, I should not expect differences from the reference in both alleles. So why ALT nucleotide is not similar to REF nucleotide? And why 0/0 genotype is SNP in general?
Chr1 1677 . A C 0 . AB=0;ABP=0;AC=0;AF=0;AN=2;AO=2;CIGAR=1X;DP=40;DPB=40;DPRA=0;EPP=3.0103;EPPR=5.06748;GTI=0;LEN=1;MEANALT=1;MQM=60;MQMR=60;NS=1;NUMALT=1;ODDS=50.4829;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=26;QR=1406;RO=38;RPL=1;RPP=3.0103;RPPR=14.2105;RPR=1;RUN=1;SAF=0;SAP=7.35324;SAR=2;SRF=8;SRP=30.668;SRR=30;TYPE=snp GT:GQ:DP:AD:RO:QR:AO:QA:GL 0/0:160.002:40:38,2:38:1406:2:26:0,-9.57122,-124.366
.vcf file generated by
Thank you in advance!
Best regards, Poecile