GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00017015 | Liver | Cirrhotic | in utero embryonic development | 134/4634 | 367/18723 | 2.78e-07 | 6.86e-06 | 134 |
GO:004873212 | Liver | Cirrhotic | gland development | 154/4634 | 436/18723 | 4.03e-07 | 9.42e-06 | 154 |
GO:00704827 | Liver | Cirrhotic | response to oxygen levels | 125/4634 | 347/18723 | 1.55e-06 | 3.02e-05 | 125 |
GO:003009912 | Liver | Cirrhotic | myeloid cell differentiation | 135/4634 | 381/18723 | 1.69e-06 | 3.22e-05 | 135 |
GO:007155911 | Liver | Cirrhotic | response to transforming growth factor beta | 96/4634 | 256/18723 | 3.55e-06 | 6.09e-05 | 96 |
GO:007156011 | Liver | Cirrhotic | cellular response to transforming growth factor beta stimulus | 93/4634 | 250/18723 | 7.34e-06 | 1.13e-04 | 93 |
GO:003410112 | Liver | Cirrhotic | erythrocyte homeostasis | 54/4634 | 129/18723 | 1.41e-05 | 1.97e-04 | 54 |
GO:00362937 | Liver | Cirrhotic | response to decreased oxygen levels | 113/4634 | 322/18723 | 1.87e-05 | 2.52e-04 | 113 |
GO:00016667 | Liver | Cirrhotic | response to hypoxia | 108/4634 | 307/18723 | 2.51e-05 | 3.26e-04 | 108 |
GO:000756812 | Liver | Cirrhotic | aging | 117/4634 | 339/18723 | 3.13e-05 | 3.91e-04 | 117 |
GO:00302187 | Liver | Cirrhotic | erythrocyte differentiation | 50/4634 | 120/18723 | 3.35e-05 | 4.13e-04 | 50 |
GO:00018905 | Liver | Cirrhotic | placenta development | 57/4634 | 144/18723 | 5.74e-05 | 6.58e-04 | 57 |
GO:00714536 | Liver | Cirrhotic | cellular response to oxygen levels | 67/4634 | 177/18723 | 7.10e-05 | 7.98e-04 | 67 |
GO:004361812 | Liver | Cirrhotic | regulation of transcription from RNA polymerase II promoter in response to stress | 24/4634 | 47/18723 | 9.00e-05 | 9.67e-04 | 24 |
GO:004362012 | Liver | Cirrhotic | regulation of DNA-templated transcription in response to stress | 26/4634 | 53/18723 | 1.11e-04 | 1.12e-03 | 26 |
GO:00457857 | Liver | Cirrhotic | positive regulation of cell adhesion | 141/4634 | 437/18723 | 2.05e-04 | 1.89e-03 | 141 |
GO:000226212 | Liver | Cirrhotic | myeloid cell homeostasis | 59/4634 | 157/18723 | 2.33e-04 | 2.11e-03 | 59 |
GO:000717911 | Liver | Cirrhotic | transforming growth factor beta receptor signaling pathway | 71/4634 | 198/18723 | 3.02e-04 | 2.65e-03 | 71 |
GO:00714563 | Liver | Cirrhotic | cellular response to hypoxia | 56/4634 | 151/18723 | 4.86e-04 | 3.90e-03 | 56 |
GO:00362946 | Liver | Cirrhotic | cellular response to decreased oxygen levels | 59/4634 | 161/18723 | 4.98e-04 | 3.98e-03 | 59 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
CIT | SNV | Missense_Mutation | rs779515686 | c.4130N>T | p.Pro1377Leu | p.P1377L | O14578 | protein_coding | deleterious(0) | benign(0.248) | TCGA-A2-A0EW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
CIT | SNV | Missense_Mutation | | c.5132C>T | p.Ser1711Phe | p.S1711F | O14578 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-A2-A0SV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate therapy | zometa | PD |
CIT | SNV | Missense_Mutation | novel | c.2482N>A | p.Glu828Lys | p.E828K | O14578 | protein_coding | deleterious(0.04) | possibly_damaging(0.628) | TCGA-A2-A25C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
CIT | SNV | Missense_Mutation | | c.3097G>T | p.Val1033Leu | p.V1033L | O14578 | protein_coding | tolerated(0.08) | probably_damaging(0.978) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
CIT | SNV | Missense_Mutation | rs747447396 | c.2839C>T | p.Arg947Cys | p.R947C | O14578 | protein_coding | deleterious(0.02) | possibly_damaging(0.446) | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | rs747447396 | c.2839N>T | p.Arg947Cys | p.R947C | O14578 | protein_coding | deleterious(0.02) | possibly_damaging(0.446) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CIT | SNV | Missense_Mutation | | c.242N>T | p.Ser81Phe | p.S81F | O14578 | protein_coding | deleterious(0.02) | benign(0.17) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CIT | SNV | Missense_Mutation | novel | c.637N>T | p.His213Tyr | p.H213Y | O14578 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
CIT | SNV | Missense_Mutation | rs368981957 | c.5590N>A | p.Asp1864Asn | p.D1864N | O14578 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | novel | c.1771N>A | p.Glu591Lys | p.E591K | O14578 | protein_coding | tolerated(0.31) | benign(0.019) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |