GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000206420 | Esophagus | ESCC | epithelial cell development | 136/8552 | 220/18723 | 9.50e-07 | 1.21e-05 | 136 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:000188510 | Esophagus | ESCC | endothelial cell development | 44/8552 | 64/18723 | 1.59e-04 | 1.05e-03 | 44 |
GO:004544610 | Esophagus | ESCC | endothelial cell differentiation | 67/8552 | 118/18723 | 9.86e-03 | 3.40e-02 | 67 |
GO:000315818 | Esophagus | ESCC | endothelium development | 76/8552 | 136/18723 | 1.05e-02 | 3.59e-02 | 76 |
GO:00033824 | Esophagus | ESCC | epithelial cell morphogenesis | 22/8552 | 33/18723 | 1.22e-02 | 4.08e-02 | 22 |
GO:000206419 | Oral cavity | OSCC | epithelial cell development | 116/7305 | 220/18723 | 2.34e-05 | 2.21e-04 | 116 |
GO:00018859 | Oral cavity | OSCC | endothelial cell development | 40/7305 | 64/18723 | 1.20e-04 | 8.57e-04 | 40 |
GO:00301983 | Oral cavity | OSCC | extracellular matrix organization | 146/7305 | 301/18723 | 4.67e-04 | 2.77e-03 | 146 |
GO:00452293 | Oral cavity | OSCC | external encapsulating structure organization | 147/7305 | 304/18723 | 5.30e-04 | 3.08e-03 | 147 |
GO:00430623 | Oral cavity | OSCC | extracellular structure organization | 146/7305 | 302/18723 | 5.59e-04 | 3.23e-03 | 146 |
GO:000315816 | Oral cavity | OSCC | endothelium development | 71/7305 | 136/18723 | 1.18e-03 | 5.99e-03 | 71 |
GO:00454469 | Oral cavity | OSCC | endothelial cell differentiation | 61/7305 | 118/18723 | 3.40e-03 | 1.44e-02 | 61 |
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 |
COL22A1 | SNV | Missense_Mutation | | c.2614N>C | p.Glu872Gln | p.E872Q | Q8NFW1 | protein_coding | tolerated(0.09) | possibly_damaging(0.79) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
COL22A1 | SNV | Missense_Mutation | rs749303704 | c.550N>A | p.Glu184Lys | p.E184K | Q8NFW1 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
COL22A1 | SNV | Missense_Mutation | rs551462454 | c.680N>A | p.Arg227His | p.R227H | Q8NFW1 | protein_coding | tolerated(0.31) | possibly_damaging(0.656) | TCGA-D8-A1X5-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
COL22A1 | SNV | Missense_Mutation | | c.3914N>A | p.Pro1305Gln | p.P1305Q | Q8NFW1 | protein_coding | deleterious(0.03) | probably_damaging(0.94) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL22A1 | SNV | Missense_Mutation | | c.2870N>T | p.Ala957Val | p.A957V | Q8NFW1 | protein_coding | tolerated(0.15) | benign(0.017) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL22A1 | SNV | Missense_Mutation | rs764763126 | c.320N>A | p.Arg107His | p.R107H | Q8NFW1 | protein_coding | tolerated(0.17) | benign(0.001) | TCGA-GM-A2DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
COL22A1 | SNV | Missense_Mutation | novel | c.2833N>A | p.Pro945Thr | p.P945T | Q8NFW1 | protein_coding | deleterious(0.03) | probably_damaging(0.992) | TCGA-OL-A6VR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL22A1 | insertion | Frame_Shift_Ins | novel | c.765_766insAACGACCAGAGATCACTCTCATGGCCATTTTGGTTTTGGT | p.Glu256AsnfsTer14 | p.E256Nfs*14 | Q8NFW1 | protein_coding | | | TCGA-B6-A0I6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
COL22A1 | insertion | Nonsense_Mutation | novel | c.2367_2368insAGGTGCTTCACGCCTAACTGACTAGTTCCCCTCT | p.Glu790ArgfsTer7 | p.E790Rfs*7 | Q8NFW1 | protein_coding | | | TCGA-B6-A0IB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
COL22A1 | insertion | Nonsense_Mutation | novel | c.704_705insTACTCTATCAGCTGCTTTCTTTCCCTGAATCCTGCCTCTACTCC | p.Asn237LeufsTer8 | p.N237Lfs*8 | Q8NFW1 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |