Homozygous variants that putatively affect protein function and are absent in the 1000 Genomes and the ESP5400a.

aVariants called as homozygous by Annovar (http://www.openbioinformatics.org/annovar/). Variants absent in both the 1000 Genomes catalog of human genetic variation (http://www.1000genomes.org/) and the ESP5400 (http://evs.gs.washington.edu/EVS/).bOfficial gene names as defined by the HUGO Gene Nomenclature Committee (http://www.genenames.org/).cAmino acid impact. 116_117del indicates a deletion affecting amino acids 116 and 117. G13981fs indicates a change from an amino acid to a frameshift. R80X indicates a change from an amino acid to a stop. K7RD indicates a change in amino acids.dDenotes the chromosome number, start location, and the nucleotide change. _* indicates that there has been either an addition (+) or a deletion (−) of nucleotides.eSingle nucleotide polymorphisms identifiers as defined at dbSNP (http://www.ncbi.nlm.nih.gov/projects/SNP/).fPercent presense of the variant in the 1000 Genomes catalog of human genetic variation (http://www.1000genomes.org/).fSorting Intolerant From Tolerent (http://sift.bii.a-star.edu.sg/index.html).gPrediction of functional effects of human nsSNPs, or PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/).hReference sequence accession number from the National Center for Biotechnology Information, NCBI (http://www.ncbi.nlm.nih.gov/).