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Table 1 Some instances of overexpressed functional mutant alleles

From: MBASED: allele-specific expression detection in cancer tissues and cell lines

Gene Mutations (sample) Affected domain CN AI ASE Details
MAF P-value (adj.)
KRAS G12C (NSCLC ind. 1) GTP-binding Gain Yes 0.87 <1e-6 Reported in COSMIC, known activating mutations
G12C (H358) GTP-binding Gain Yes 0.73 1e-2
G12C (H23) GTP-binding Gain Yes 0.75 <1e-6
G12A (H2009) GTP-binding Gain Yes 0.66 1e-1 Falls short of significance cutoffs
EGFR Q787K (NSCLC ind. 2) Kinase Gain No 0.74 2e-5 Both mutations in same sample, on same haplotype. L858R is reported in COSMIC
L858R (NSCLC ind. 2) Kinase Gain No 0.74 2e-5
RAD18 Q59H (HCC ind. 1) RING-type ZF Gain No 0.75 6e-5 Mutations in this motif results in hypersensitivity to mutagens
EAF2 S207F (HCC ind. 1) Transactivation Gain No 0.77 2e-5 Tumor suppressor (inducer of apoptosis via p53)
MTOR V1801G (H522) FAT Gain Yes 0.88 5e-3 Mutated domain is a binding site for MTOR inhibitor
MYH9 K1248N (NSCLC ind. 2) Coiled coil Neutral No 0.82 <1e-6 Outside of CN gain/loss or AI regions
MYO18A R426C (HCC ind. 1) Unannotated Neutral No 0.71 4e-2
TIMP1 R136H (HCC ind. 2) NTR Neutral No 0.89 <1e-6
FAS T319I (HCC ind. 4) Unannotated Neutral No 0.87 7e-3
CCDC50 T459A (H650) Unannotated Neutral No 0.82 <1e-6
  1. Affected domain: based on canonical RefSeq transcript information and UniProt annotation. CN: genomic copy number status. AI: presence of genomic allelic imbalance. ASE MAF and P-value (adj.): MBASED-derived estimate of major haplotype frequency and the corresponding (adjusted) P-value.