As it turned out, alternative splicing in ETV6-RUNX1 (identified in B-cell leukemia) is recapitulated in RUNX1 gene in normal GTEx blood samples, and alternative splicing in C11orf95-RELA (identified in Ependymoma, a brain tumor) is recapitulated in C11orf95 in normal GTEx brain samples (Supplementary Fig. 6c). The gene discussed is ETV6; the disease is ependymoma.