Table of Changes ---------------- Uploaded variation [VEP output - ignore] Chrom Chromosome Pos Position Allele [VEP output - ignore] Gene Gene in Ensembl format (ENSG) Feature Transcript in Ensembl format (ENST) or Regulatory region in Ensembl format (ENSR) Feature_type Type of feature (Transcript or RegulatoryFeature) Consequence Consequence of change (NonSyn, regulatory motif, 3'UTR, etc.) cDNA_position Position in cDNA CDS_position Position in CDS Protein_position Position in protein Amino_acids Change in amino acid (reference / alternative) Codons Change in codons (reference / alternative) Existing_variation [VEP output - ignore] Extra Structural consequences (PolyPhen, SIFT, Condel) Human Fixed derived or high-frequency derived allele (>0.9) in humans ("1" if no db SNP exits; "1.0" if 1000G ancestral global frequency is 0) Archaics_(Vindija,Sidron,AltaiNea,Denisova) Alleles for Vindija exome, Sidron exome, Altai Neandertal and Denisova Ancestor Human-Chimp ancestor allele (EPO) Gorilla Human-Gorilla ancestor allele (EPO) Orangutan Human-Orangutan ancestor allele (EPO) States Allele states for Vindija exome, Sidron exome, Altai Neandertal and Denisova (A = ancestral, H = derived like human majority allele, N = derived different from human majority allele dbSNP dbSNP ID Human_1000G(Global) Global human ancestral frequency based on 1000G data Flag CpG if in CpG island; RM if in repeat masked region; LowQual if conflicting GATK calls; SysErr if prone to systematic errors; InDelNear if indels nearby GERP_score GERP score Mammal_score Mammal conservation score (excluding humans) Primate_score Primate conservation score (excluding humans) B_score B-score Mappability_score Mappability score VCF_info INFO fields from GATK VCF file VCF_format Format field information taken from GATK VCF file VCF_values Read information taken from GATK VCF file Strand + or -, only relevant to genic sites