Meta-SNP: Meta-predictor of disease causing variants Cite: Capriotti et al. BMC Genomics 2013. Suppl 3:S2. WEB: http://snps.biofold.org/meta-snp Sequence File: fileseq.seq Mutation PANTHER PhD-SNP SIFT SNAP Meta-SNP RI Profile R43W Neutral Disease Disease Disease Disease 5 F[R]=86% F[W]=0% Nali=161 0.103 0.847 0.000 0.770 0.763 C157Y Disease Disease Disease Disease Disease 4 F[C]=86% F[Y]=2% Nali=187 0.645 0.889 0.030 0.860 0.716 C396Y Disease Disease Disease Disease Disease 6 F[C]=100% F[Y]=0% Nali=1039 0.976 0.958 0.000 0.865 0.793 Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variants Disease: Disease causing variants Outputs: Value reported under each prediction PANTHER: Between 0 and 1. (If >0.5 mutation is predicted Disease) PhD-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease) SIFT: Positive Value (If >0.05 mutation is predicted Neutral) SNAP: Output normailzed between 0 and 1 (If >0.5 mutation is predicted Disease) Meta-SNP: Between 0 and 1. (If >0.5 mutation is predicted Disease) RI: Reliability Index between 0 an 10 F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site