Notably, we identified a mutation hotspot in MAP2K1 with a median variant allele frequency of 0.15 (Supplementary information, Fig. S1e), a potential candidate driver mutation of LUAD, which was previously reported as a missense mutation in 2 of 230 (0.9%) patients with invasive LUAD.11 In our study, 13 cases with MAP2K1 p.E102–I103 deletion were identified, 11 of which were AIS/MIA samples (Fig. 2a, b). The gene discussed is MAP2K1; the disease is androgen insensitivity syndrome.