Exome summary stats.

pos_id_orig: unique GRCh38 variant ID. chromosome - 9-digit position - ref allele - alt allele, as directly pulled from multi-allelic VCF; variants are not left-aligned and minimally represented, pos_id: unique GRCh38 variant ID. chromosome - 9-digit position - ref allele - alt allele. Variants are left-aligned and minimally represented. position: GRCh37 chromosomal position, ref: reference allele, alt: alternate allele, qual: PHRED quality score, filter: filter status, faf_gprd: 95%CI filtering allele frequency from genetic prion disease (gPrD) cohort, group_max_faf_group: ancestry group contributing the gnomAD filtering allele frequency, group_max_faf_frequency: 95%CI filtering allele frequency from gnomAD, faf_combined: the greater of faf_gprd or group_max_faf_frequency, or_gprd: the odds ratio of VPSPr compared to gPrD, fisher_p_gprd: the Fisher exact test P value of VPSPr compared to gPrD, ac_VPSPr: allele count in VPSPr cases, an_VPSPr: allele number in VPSPr cases, ac_gPrD: allele count in gPrD cohort, an_gPrD: allele number in gPrD cohort, p_bonf_gprd: Bonferroni-corrected version of fisher_p_gprd, or_gprd_pseudo: or_gprd clipped to a range of [-20, 20], or_nfe: the odds ratio of VPSPr compared to gnomAD non-Finnish Europeans (NFE), fisher_p_nfe: the Fisher exact test P value of VPSPr compared to gnomAD NFE, ac_nfe: allele count in gnomad NFE, an_nfe: allele number in gnomad NFE, p_bonf_nfe: Bonferroni-corrected version of fisher_p_nfe, or_nfe_pseudo: or_nfe clipped to a range of [-20, 20], af_scjd_gwas: allele frequency in the sCJD GWAS summary statistics (Jones 2020), or_scjd_gwas: odds ratio in the sCJD GWAS summary statistics (Jones 2020), pval_scjd_gwas: P value in the sCJD GWAS summary statistics (Jones 2020), r_squared_4699605: linkage disequilibrium r^2 to rs1799990 (M129V), r_squared_4692886: linkage disequilibrium r^2 to rs35643278 (an intronic variant showing non-Bonferroni-significant association to VPSPr in the exploratory analysis), slope_tibial_nerve: GTEx slope for association to tibial nerve PRNP expression, pval_nominal_tibial_nerve: GTEx nominal P value for association to tibial nerve PRNP expression, slope_cerebellum: GTEx slope for association to cerebellum PRNP expression, pval_nominal_cerebellum: GTEx nominal P value for association to cerebellum PRNP expression.
(GZ)