For the disease refinement cohort, diagnostic biomarkers included EGFR L858R (NSCLC), ERBB2 R677Q (NSCLC), TMB-High (melanoma/NSCLC), FGFR2-ITPR2 fusion (CCA), IDH1 R132L and R132C (CCA), BRAF V600E (melanoma), CDKN2A W110* (melanoma), TMPRSS2-ERG fusion (PCA), BRCA2 Y1655* (HGSOC), MET exon 14 skipping (NSCLC), ERBB2 G776delinsVC (NSCLC), BCL11A-ALK fusion (NSCLC), KIT M552_E554delinsK (GIST), and EWSR1-CRB1 (AFH) (Fig. 2). The gene discussed is CDKN2A; the disease is posterior cortical atrophy.