Table 3. GO-term enrichment analysis: top 20 terms in the 'Process' category.
| Germline cancer-associated mutations | Somatic cancer-associated mutations | Mutations associated with non-cancer diseases |
|---|---|---|
| Positive regulation of transcription, DNA-templated | Negative regulation of cell proliferation | Positive regulation of transcription, DNA-templated |
| Negative regulation of cell proliferation | Positive regulation of transcription, DNA-templated | Cell–cell signaling |
| Negative regulation of transcription from RNA polymerase II promoter | Negative regulation of transcription from RNA polymerase II promoter | Response to drug |
| Negative regulation of apoptotic process | Negative regulation of apoptotic process | Blood coagulation |
| Regulation of transcription, DNA-templated | Positive regulation of transcription from RNA polymerase II promoter | Positive regulation of transcription from RNA polymerase II promoter |
| Cell proliferation | Regulation of transcription, DNA-templated | Transport |
| Positive regulation of gene expression | Ras protein signal transduction | Positive regulation of gene expression |
| Positive regulation of transcription from RNA polymerase II promoter | Positive regulation of gene expression | Visual perception |
| Regulation of signal transduction by p53 class mediator | Negative regulation of transcription, DNA-templated | Signal transduction |
| Cellular response to DNA damage stimulus | Cell proliferation | Negative regulation of neuron apoptotic process |
| DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | Negative regulation of cell growth | Negative regulation of apoptotic process |
| Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | Cell cycle arrest | Nervous system development |
| Ras protein signal transduction | Viral process | Negative regulation of transcription from RNA polymerase II promoter |
| Regulation of apoptotic process | Cellular response to drug | Liver development |
| Cellular response to drug | Cellular response to DNA damage stimulus | Sensory perception of sound |
| Cell differentiation | Positive regulation of apoptotic process | ER to Golgi vesicle-mediated transport |
| Response to X-ray | Replicative senescence | Positive regulation of cell proliferation |
| Negative regulation of transcription, DNA-templated | Cell differentiation | Response to hypoxia |
| Cell cycle arrest | Regulation of apoptotic process | Response to estradiol |
| Negative regulation of cell growth | Regulation of signal transduction by p53 class mediator | Transcription, DNA-templated |
Differences of the combined scores (see Materials and methods) for disease-associated nsSNVs and common variants are shown in parentheses.