GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:00073698 | Esophagus | ESCC | gastrulation | 115/8552 | 185/18723 | 4.35e-06 | 4.64e-05 | 115 |
GO:00074926 | Esophagus | ESCC | endoderm development | 54/8552 | 77/18723 | 1.20e-05 | 1.12e-04 | 54 |
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:00017064 | Esophagus | ESCC | endoderm formation | 38/8552 | 54/18723 | 2.08e-04 | 1.31e-03 | 38 |
GO:00017044 | Esophagus | ESCC | formation of primary germ layer | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:000961216 | Esophagus | ESCC | response to mechanical stimulus | 124/8552 | 216/18723 | 3.30e-04 | 1.94e-03 | 124 |
GO:00359873 | Esophagus | ESCC | endodermal cell differentiation | 32/8552 | 45/18723 | 4.87e-04 | 2.70e-03 | 32 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:00301993 | Esophagus | ESCC | collagen fibril organization | 40/8552 | 61/18723 | 1.35e-03 | 6.44e-03 | 40 |
GO:006053716 | Esophagus | ESCC | muscle tissue development | 211/8552 | 403/18723 | 3.84e-03 | 1.56e-02 | 211 |
GO:00487052 | Esophagus | ESCC | skeletal system morphogenesis | 120/8552 | 220/18723 | 4.90e-03 | 1.89e-02 | 120 |
GO:0006029 | Esophagus | ESCC | proteoglycan metabolic process | 48/8552 | 79/18723 | 4.93e-03 | 1.89e-02 | 48 |
GO:00512161 | Esophagus | ESCC | cartilage development | 103/8552 | 190/18723 | 1.08e-02 | 3.67e-02 | 103 |
GO:001470615 | Esophagus | ESCC | striated muscle tissue development | 197/8552 | 384/18723 | 1.46e-02 | 4.74e-02 | 197 |
GO:00020623 | Esophagus | ESCC | chondrocyte differentiation | 60/8552 | 106/18723 | 1.53e-02 | 4.94e-02 | 60 |
GO:000150332 | Thyroid | ATC | ossification | 206/6293 | 408/18723 | 9.23e-13 | 3.95e-11 | 206 |
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 |
COL11A1 | SNV | Missense_Mutation | | c.3856N>T | p.Pro1286Ser | p.P1286S | P12107 | protein_coding | tolerated(0.06) | benign(0) | TCGA-18-3421-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
COL11A1 | SNV | Missense_Mutation | | c.877N>C | p.Glu293Gln | p.E293Q | P12107 | protein_coding | tolerated(0.34) | probably_damaging(0.932) | TCGA-21-1078-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
COL11A1 | SNV | Missense_Mutation | novel | c.179T>C | p.Phe60Ser | p.F60S | P12107 | protein_coding | deleterious(0) | benign(0.342) | TCGA-21-1080-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
COL11A1 | SNV | Missense_Mutation | | c.144N>A | p.His48Gln | p.H48Q | P12107 | protein_coding | tolerated(0.86) | benign(0.001) | TCGA-22-5489-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | taxotere | PD |
COL11A1 | SNV | Missense_Mutation | | c.4027C>A | p.Gln1343Lys | p.Q1343K | P12107 | protein_coding | tolerated(0.44) | possibly_damaging(0.9) | TCGA-22-5491-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
COL11A1 | SNV | Missense_Mutation | | c.4989N>C | p.Trp1663Cys | p.W1663C | P12107 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-33-4566-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
COL11A1 | SNV | Missense_Mutation | | c.3799N>T | p.Gly1267Trp | p.G1267W | P12107 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-33-4566-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
COL11A1 | SNV | Missense_Mutation | | c.2614N>T | p.Val872Leu | p.V872L | P12107 | protein_coding | tolerated(0.42) | benign(0) | TCGA-33-4566-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
COL11A1 | SNV | Missense_Mutation | | c.2567N>T | p.Gly856Val | p.G856V | P12107 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-33-4566-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
COL11A1 | SNV | Missense_Mutation | | c.4109N>A | p.Ala1370Glu | p.A1370E | P12107 | protein_coding | tolerated(0.26) | benign(0.027) | TCGA-33-4586-01 | Lung | lung squamous cell carcinoma | Male | <65 | III/IV | Unknown | Unknown | PD |