Recurrent noncoding somatic and germline variants are located in the third intron of WT1. (A) Top 6 functional regions harboring somatic noncoding mutations identified by the integrative analysis. The abscissa represents each patient, the ordinate represents candidate loci containing noncoding mutations for the indicated gene, the blue represents the sample with the specified mutation, and the gray represents the sample that does not contain the specified mutation. Also included is the log2 fold-change of associated genes by comparing the expression levels of respective target genes in mutated and nonmutated samples. (B) Detailed annotation of the recurrent somatic noncoding mutation-containing locus in the third intron of WT1. The H3K27ac peaks of each sample are shown as a transparent area plot. The thick line represents the median profile from all samples. The height of peaks from each sample was determined by the H3K27ac read density of the corresponding sample within the region. (C) Lollipop plot showing the distribution and classes of noncoding variants in the third intron of WT1. The red point represents the somatic mutation, and the blue point represents the germline mutation. The size of the point represents the number of a given mutation type. (D) Association of rs191528827 with APL risk. Upper panel: the bar plot shows the alternative allele frequency of rs191528827 in 169 APL patients of this study and a nontumor cohort in the ChinaMAP. Lower panel: the diamond-shaped point represents the odds ratio, and the error bar represents the 95% confidence interval of the odds ratio. CI, confidence interval; FC, fold change.