GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00436273 | Breast | Precancer | response to estrogen | 15/1080 | 75/18723 | 2.06e-05 | 4.83e-04 | 15 |
GO:004362711 | Breast | IDC | response to estrogen | 17/1434 | 75/18723 | 4.05e-05 | 9.25e-04 | 17 |
GO:00436272 | Breast | DCIS | response to estrogen | 16/1390 | 75/18723 | 1.01e-04 | 1.84e-03 | 16 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:0070482111 | Esophagus | ESCC | response to oxygen levels | 218/8552 | 347/18723 | 6.91e-11 | 2.17e-09 | 218 |
GO:0043618111 | Esophagus | ESCC | regulation of transcription from RNA polymerase II promoter in response to stress | 42/8552 | 47/18723 | 3.91e-10 | 1.05e-08 | 42 |
GO:0043620111 | Esophagus | ESCC | regulation of DNA-templated transcription in response to stress | 46/8552 | 53/18723 | 5.17e-10 | 1.33e-08 | 46 |
GO:0036293111 | Esophagus | ESCC | response to decreased oxygen levels | 201/8552 | 322/18723 | 8.37e-10 | 2.04e-08 | 201 |
GO:0030522110 | Esophagus | ESCC | intracellular receptor signaling pathway | 170/8552 | 265/18723 | 8.58e-10 | 2.09e-08 | 170 |
GO:004578710 | Esophagus | ESCC | positive regulation of cell cycle | 196/8552 | 313/18723 | 9.27e-10 | 2.24e-08 | 196 |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:0001666111 | Esophagus | ESCC | response to hypoxia | 192/8552 | 307/18723 | 1.59e-09 | 3.69e-08 | 192 |
GO:000184115 | Esophagus | ESCC | neural tube formation | 75/8552 | 102/18723 | 9.68e-09 | 1.95e-07 | 75 |
GO:000184314 | Esophagus | ESCC | neural tube closure | 66/8552 | 88/18723 | 1.98e-08 | 3.82e-07 | 66 |
GO:001402014 | Esophagus | ESCC | primary neural tube formation | 69/8552 | 94/18723 | 4.22e-08 | 7.76e-07 | 69 |
GO:006060614 | Esophagus | ESCC | tube closure | 66/8552 | 89/18723 | 4.24e-08 | 7.76e-07 | 66 |
GO:0001890110 | Esophagus | ESCC | placenta development | 98/8552 | 144/18723 | 4.46e-08 | 8.11e-07 | 98 |
GO:004578527 | Esophagus | ESCC | positive regulation of cell adhesion | 255/8552 | 437/18723 | 5.07e-08 | 9.11e-07 | 255 |
GO:0002262111 | Esophagus | ESCC | myeloid cell homeostasis | 104/8552 | 157/18723 | 1.49e-07 | 2.36e-06 | 104 |
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 | | c.2041N>A | p.Asp681Asn | p.D681N | O14578 | protein_coding | tolerated(0.2) | benign(0.027) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | novel | c.5975N>A | p.Pro1992Gln | p.P1992Q | O14578 | protein_coding | tolerated_low_confidence(0.08) | benign(0.057) | TCGA-D1-A1NZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | novel | c.3958N>A | p.Ala1320Thr | p.A1320T | O14578 | protein_coding | deleterious(0.03) | possibly_damaging(0.815) | TCGA-D1-A2G0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | novel | c.5741N>A | p.Arg1914His | p.R1914H | O14578 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | novel | c.3767N>A | p.Gly1256Asp | p.G1256D | O14578 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | novel | c.713N>C | p.Val238Ala | p.V238A | O14578 | protein_coding | tolerated(1) | benign(0.01) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | | c.2840N>A | p.Arg947His | p.R947H | O14578 | protein_coding | tolerated(0.08) | benign(0) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | novel | c.3077T>C | p.Ile1026Thr | p.I1026T | O14578 | protein_coding | tolerated(0.71) | benign(0.003) | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
CIT | SNV | Missense_Mutation | novel | c.5380N>C | p.Tyr1794His | p.Y1794H | O14578 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
CIT | SNV | Missense_Mutation | novel | c.2473G>A | p.Glu825Lys | p.E825K | O14578 | protein_coding | tolerated(0.18) | probably_damaging(0.985) | TCGA-E6-A1LZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |