Table 1. Top frequently occurring amino acid substitutions detected in COSMIC in comparison with prevalent nucleotide variations detected in TCGA.
| Cancer tissue | Top 3 amino acid substitutions (associated nucleotide variations) | Prevalent nucleotide variations by Alexandrov et al. | ||
|---|---|---|---|---|
| 1st | 2nd | 3rd | ||
| lung | GV(GT) | EK(GA) | RL(GT) | C > T, C > A |
| urinary_tract | EK(GA) | EQ(GC) | DN(GA) | C > T, C > G in bladder cancer |
| large_intestine | RH(GA) | RQ(GA) | RC(CT) | C > T in colorectum |
| esophagus | RH(GA) | RC(CT) | RQ(GA) | C > T, C > G |
| endometrium | RQ(GA) | RH(GA) | RC(CT) | C > T, C > G in cervix and uterus |
| liver | IV(AG) | AT(GA) | YC(AG) | C > T, C > A,T > C |
| stomach | RH(GA) | RQ(GA) | RC(CT) | C > T, C > G,T > C |
| kidney | AV(CT) | AT(GA) | RH(GA) | C > T, C > G |
| ovary | RH(GA) | AT(GA) | AV(CT) | C > T |
| breast | EK(GA) | EQ(GC) | RH(GA) | C > T, C > G |
| prostate | RH(GA) | RC(CT) | AT(GA) | C > T, C > A |
| upper_aerodigestive_tract | EK(GA) | DN(GA) | EQ(GC) | N/A |
| pancreas | RH(GA) | RC(CT) | AV(CT) | C > T, C > G,C > A |
| bone | RC(CT) | RH(GA) | VI(GA) | C > T, C > G in myeloma |
| eye | QL(AT) | AT(GA) | RC(CT) | C > T, C > A in head and neck |
| autonomic_ganglia | AS(GT) | QK(CA) | AT(GA) | N/A |
| salivary_gland | RH(GA) | RC(CT) | AT(GA) | C > T, C > A in head and neck |
| hematopoietic_and_lymphoid_tissue | RH(GA) | RC(CT) | AV(CT) | C > T, C > G,T > G in AML,ALL,CLL and lymphoma B cell |
| skin | EK(GA) | PS(CT) | SF(CT) | C > T in melanoma |
| central_nervous_system | RH(GA) | RQ(GA) | RC(CT) | C > T, C > A |
| meninges | KQ(AC) | RH(GA) | TI(CT) | N/A |
| adrenal_gland | GR(GA,GC) | LR(TG) | LV(CG,TG) | N/A |
| small_intestine | AV(CT) | RH(GA) | RQ(GA) | N/A |
GV: amino acid residue G is mutated to V. Corresponding nucleotide changes inferred from the DNA codon table are given in parentheses. N/A = cancer type not covered by previous literature.