GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004340123 | Oral cavity | EOLP | steroid hormone mediated signaling pathway | 32/2218 | 136/18723 | 9.85e-05 | 1.14e-03 | 32 |
GO:190165513 | Oral cavity | EOLP | cellular response to ketone | 25/2218 | 96/18723 | 9.99e-05 | 1.14e-03 | 25 |
GO:001021224 | Oral cavity | EOLP | response to ionizing radiation | 34/2218 | 148/18723 | 1.01e-04 | 1.15e-03 | 34 |
GO:003432917 | Oral cavity | EOLP | cell junction assembly | 76/2218 | 420/18723 | 1.02e-04 | 1.17e-03 | 76 |
GO:004259422 | Oral cavity | EOLP | response to starvation | 42/2218 | 197/18723 | 1.03e-04 | 1.17e-03 | 42 |
GO:00508663 | Oral cavity | EOLP | negative regulation of cell activation | 44/2218 | 210/18723 | 1.09e-04 | 1.23e-03 | 44 |
GO:007190121 | Oral cavity | EOLP | negative regulation of protein serine/threonine kinase activity | 29/2218 | 120/18723 | 1.24e-04 | 1.37e-03 | 29 |
GO:004340924 | Oral cavity | EOLP | negative regulation of MAPK cascade | 39/2218 | 180/18723 | 1.25e-04 | 1.38e-03 | 39 |
GO:00303366 | Oral cavity | EOLP | negative regulation of cell migration | 64/2218 | 344/18723 | 1.57e-04 | 1.67e-03 | 64 |
GO:004592716 | Oral cavity | EOLP | positive regulation of growth | 51/2218 | 259/18723 | 1.72e-04 | 1.79e-03 | 51 |
GO:00321023 | Oral cavity | EOLP | negative regulation of response to external stimulus | 75/2218 | 420/18723 | 1.74e-04 | 1.80e-03 | 75 |
GO:004225425 | Oral cavity | EOLP | ribosome biogenesis | 57/2218 | 299/18723 | 1.82e-04 | 1.87e-03 | 57 |
GO:003109824 | Oral cavity | EOLP | stress-activated protein kinase signaling cascade | 49/2218 | 247/18723 | 1.89e-04 | 1.94e-03 | 49 |
GO:003166923 | Oral cavity | EOLP | cellular response to nutrient levels | 44/2218 | 215/18723 | 1.92e-04 | 1.96e-03 | 44 |
GO:00512716 | Oral cavity | EOLP | negative regulation of cellular component movement | 67/2218 | 367/18723 | 1.97e-04 | 2.00e-03 | 67 |
GO:004873224 | Oral cavity | EOLP | gland development | 77/2218 | 436/18723 | 2.05e-04 | 2.06e-03 | 77 |
GO:19037075 | Oral cavity | EOLP | negative regulation of hemopoiesis | 26/2218 | 106/18723 | 2.11e-04 | 2.11e-03 | 26 |
GO:003030715 | Oral cavity | EOLP | positive regulation of cell growth | 36/2218 | 166/18723 | 2.19e-04 | 2.18e-03 | 36 |
GO:000736913 | Oral cavity | EOLP | gastrulation | 39/2218 | 185/18723 | 2.29e-04 | 2.25e-03 | 39 |
GO:004592613 | Oral cavity | EOLP | negative regulation of growth | 49/2218 | 249/18723 | 2.31e-04 | 2.26e-03 | 49 |
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 |
RP1 | SNV | Missense_Mutation | novel | c.81G>C | p.Leu27Phe | p.L27F | P56715 | protein_coding | tolerated(0.65) | benign(0.007) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
RP1 | SNV | Missense_Mutation | rs747714373 | c.2978C>G | p.Ser993Cys | p.S993C | P56715 | protein_coding | deleterious(0.02) | possibly_damaging(0.781) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RP1 | SNV | Missense_Mutation | | c.4362C>A | p.Ser1454Arg | p.S1454R | P56715 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
RP1 | SNV | Missense_Mutation | novel | c.1138N>T | p.Pro380Ser | p.P380S | | protein_coding | deleterious(0.04) | probably_damaging(0.923) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | novel | c.983N>G | p.Lys328Arg | p.K328R | | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | | c.2516N>C | p.Gln839Pro | p.Q839P | P56715 | protein_coding | deleterious(0.03) | possibly_damaging(0.641) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RP1 | SNV | Missense_Mutation | novel | c.4466C>T | p.Ala1489Val | p.A1489V | P56715 | protein_coding | tolerated(0.22) | benign(0.01) | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR |
RP1 | SNV | Missense_Mutation | | c.2675N>T | p.Ala892Val | p.A892V | P56715 | protein_coding | tolerated(0.14) | benign(0.039) | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RP1 | SNV | Missense_Mutation | | c.1895N>T | p.Ser632Leu | p.S632L | P56715 | protein_coding | tolerated(0.2) | benign(0.042) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RP1 | SNV | Missense_Mutation | | c.4027N>A | p.Asp1343Asn | p.D1343N | P56715 | protein_coding | tolerated(0.07) | benign(0) | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |