These 5 signatures corresponded to the known COSMIC (Catalog of Somatic Mutations in Cancer) signatures: SBS30 (Defective DNA base excision repair due to NTHL1 mutations, n = 100), SBS20 (Concurrent POLD1 mutations and defective DNA mismatch repair, n = 2), SBS6 (Defective DNA mismatch repair, n = 15), SBS2 (Activity of APOBEC family of cytidine deaminases, n = 15), and SBS18 (Damage by reactive oxygen species, n = 1) (Supplementary Fig. S1j). Here, NTHL1 is linked to cancer.