Summary of the rare variants found in the extreme values of CSF biomarker levels.

Gene: official Symbol provide by HGNC; dbSNP: variants with or without rs numbers. AA Substitution: amino acid change resulting from the observed variant; dbSNP ID: rs# for variants present in dbSNP 135, Novel for variants not present in dbsnp, 1000 genome or Exome Variant Server; GERP score: Genomic Evolutionary Rate Profiling score; Protein prediction: based on SIFT/Polyphen2 analysis of the predicted effect of the substitution on protein function; MAF in ESV: Minor allele frequency in Exome Variant Server; Total # Hets: Number of carriers of the variant in the total sample; Total MAF: Minor allele frequency in all sample genotyped. Clinical Interpretation: Clinical interpretation is based on AD&FTD mutation database and published papers. §dbSNP 135 appears as validation pending