Homozygous variants that putatively affect protein function and are absent in the 1000 Genomes and the ESP5400^a.

a<p>Variants called as homozygous by Annovar (<a href="http://www.openbioinformatics.org/annovar/" target="_blank">http://www.openbioinformatics.org/annovar/</a>). Variants absent in both the 1000 Genomes catalog of human genetic variation (<a href="http://www.1000genomes.org/" target="_blank">http://www.1000genomes.org/</a>) and the ESP5400 (<a href="http://evs.gs.washington.edu/EVS/" target="_blank">http://evs.gs.washington.edu/EVS/</a>).</p>b<p>Official gene names as defined by the HUGO Gene Nomenclature Committee (<a href="http://www.genenames.org/" target="_blank">http://www.genenames.org/</a>).</p>c<p>Amino 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.</p>d<p>Denotes the chromosome number, start location, and the nucleotide change. _* indicates that there has been either an addition (+) or a deletion (−) of nucleotides.</p>e<p>Single nucleotide polymorphisms identifiers as defined at dbSNP (<a href="http://www.ncbi.nlm.nih.gov/projects/SNP/" target="_blank">http://www.ncbi.nlm.nih.gov/projects/SNP/</a>).</p>f<p>Percent presense of the variant in the 1000 Genomes catalog of human genetic variation (<a href="http://www.1000genomes.org/" target="_blank">http://www.1000genomes.org/</a>).</p>f<p><u>S</u>orting <u>I</u>ntolerant <u>F</u>rom <u>T</u>olerent (<a href="http://sift.bii.a-star.edu.sg/index.html" target="_blank">http://sift.bii.a-star.edu.sg/index.html</a>).</p>g<p>Prediction of functional effects of human nsSNPs, or PolyPhen-2 (<a href="http://genetics.bwh.harvard.edu/pph2/" target="_blank">http://genetics.bwh.harvard.edu/pph2/</a>).</p>h<p>Reference sequence accession number from the National Center for Biotechnology Information, NCBI (<a href="http://www.ncbi.nlm.nih.gov/" target="_blank">http://www.ncbi.nlm.nih.gov/</a>).