README of output files (SNP2GENE) from FUMA web application Author: Kyoko Watanabe (k.watanabe@vu.nl) Version: 1.0.0 (2 Feb 2017) Version: 1.1.2 (27 Apr 2017) Version: 1.3.0 (21 Feb 2018) Version: 1.3.1 (27 Apr 2018) Version: 1.3.4 (8 Feb 2019) Version: 1.3.5 (27 May 2019) Version: 1.3.5d (14 Oct 2019) ###################### # eqtl.txt # This file is only available when eQTL mapping is performed. # The file contains unique pair of SNP-gene-tissue, therefore, a SNP could appear multiple times. ###################### uniqID : Unique ID of SNPs consists of chr:position:allele1:allele2 where alleles are alphabetically ordered. chr : chromosome pos : position on hg19 DB : Data source of eQTLs. Currently GTEx, BloodeQTL, BIOS and BRAINEAC are available. tissue : Tissue type Gene : ENSG ID Symbol : Gene symbol P-value : P-value of eQTLs FDR : FDR of eQTLs. Note that method to compute FDR differs between data sources. signed_stats : Signed test statistics, the actual value depends on the data source. Please refer the online tutorial for details RiskIncAllele : Risk increasing allele obtained from input GWAS summary statistics. "NA" if signed effect is not provided in the input file. SNPs which are not in the input GWAS but included from reference panel are also encoded as "NA". alignedDirection : The direction of effect to gene expression after aligning risk increasing allele of GWAS and tested allele of eQTLs. "+" when the risk increasing allele increase the expression of the gene, "-" when the risk increasing allele decrease the expression of the gene. "NA" if risk increasing allele is not defined. Please refer the tutorial on the FUMA website for details. eqtlMapFilt : If the eQTL was used for eQTL mapping 1, otherwise 0. It can be 0 when the SNP has filtered by functional annotations such as CADD score.