Table 1.
Gene | Source | Alteration | Mutation | MAF (%) | Role |
---|---|---|---|---|---|
CARD11 | Tissue | T1022A | Missense | 56.3 | CARD-CC protein family costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation |
TLR4 | Tissue | N176Ffs*27 | Frameshift | 38.8 | Pathogen recognition and activation of innate immunity |
CDKN1A | Tissue | W49S | Missense | 5.9 | Encodes cyclin-dependent kinase inhibitor |
CDKN1A | Tissue | D52H | Missense | 5.4 | Cell cycle pathway |
FAT1 | Tissue | Y2774* | Nonsense | 14.4 | Tumor suppressor; cell proliferation |
GLI1 | Tissue | F1101L | Missense | 51.0 | Oncogene; Hedgehog signaling |
HRAS | Tissue | G13P | Missense | 17.5 | Proto-oncogene |
KDM6A | Tissue | K1018Efs*6 | Frameshift | 13.0 | Histone demethylase: chromatin-modifying or chromatin-regulatory genes |
KEAP1 | Tissue | R272C | Missense | 7.5 | Tumor/metastasis suppressor; oxidative stress pathway |
NCOR1 | Tissue | H1401R | Missense | 11.9 | Histones/nuclear receptors |
PTPRD | Tissue | N1701S | Missense | 53.7 | Unclear role |
SLX4 | Tissue | G1535E | Missense | 48.3 | DNA repair, DSBR HR |
TERT | Tissue | n/a | Promoter | 6.7 | Telomerase complex |
HRAS | Plasma | G13P | Missense | 1.14 | Proto-oncogene |
HRAS | Plasma | n/a | Splice site Acceptor | 0.54 | Proto-oncogene |
(MAF) Minor allele frequency, (DSBR) double-strand break repair, (HR) homologous recombination.