GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000725410 | Skin | AK | JNK cascade | 32/1910 | 167/18723 | 3.38e-04 | 3.42e-03 | 32 |
GO:003003826 | Skin | AK | contractile actin filament bundle assembly | 23/1910 | 106/18723 | 3.64e-04 | 3.59e-03 | 23 |
GO:004314926 | Skin | AK | stress fiber assembly | 23/1910 | 106/18723 | 3.64e-04 | 3.59e-03 | 23 |
GO:000717817 | Skin | AK | transmembrane receptor protein serine/threonine kinase signaling pathway | 57/1910 | 355/18723 | 3.69e-04 | 3.61e-03 | 57 |
GO:000268317 | Skin | AK | negative regulation of immune system process | 67/1910 | 434/18723 | 3.74e-04 | 3.63e-03 | 67 |
GO:003166727 | Skin | AK | response to nutrient levels | 72/1910 | 474/18723 | 3.74e-04 | 3.63e-03 | 72 |
GO:00308567 | Skin | AK | regulation of epithelial cell differentiation | 30/1910 | 154/18723 | 3.81e-04 | 3.67e-03 | 30 |
GO:001021210 | Skin | AK | response to ionizing radiation | 29/1910 | 148/18723 | 4.27e-04 | 4.05e-03 | 29 |
GO:00022447 | Skin | AK | hematopoietic progenitor cell differentiation | 24/1910 | 114/18723 | 4.40e-04 | 4.13e-03 | 24 |
GO:20001467 | Skin | AK | negative regulation of cell motility | 57/1910 | 359/18723 | 4.91e-04 | 4.55e-03 | 57 |
GO:007135624 | Skin | AK | cellular response to tumor necrosis factor | 40/1910 | 229/18723 | 4.98e-04 | 4.58e-03 | 40 |
GO:00602186 | Skin | AK | hematopoietic stem cell differentiation | 10/1910 | 30/18723 | 5.26e-04 | 4.79e-03 | 10 |
GO:00720739 | Skin | AK | kidney epithelium development | 27/1910 | 136/18723 | 5.36e-04 | 4.85e-03 | 27 |
GO:003166924 | Skin | AK | cellular response to nutrient levels | 38/1910 | 215/18723 | 5.37e-04 | 4.86e-03 | 38 |
GO:00604857 | Skin | AK | mesenchyme development | 48/1910 | 291/18723 | 5.64e-04 | 5.06e-03 | 48 |
GO:003596726 | Skin | AK | cellular response to topologically incorrect protein | 24/1910 | 116/18723 | 5.74e-04 | 5.11e-03 | 24 |
GO:000165510 | Skin | AK | urogenital system development | 54/1910 | 338/18723 | 5.86e-04 | 5.20e-03 | 54 |
GO:19031318 | Skin | AK | mononuclear cell differentiation | 65/1910 | 426/18723 | 6.24e-04 | 5.45e-03 | 65 |
GO:00443424 | Skin | AK | type B pancreatic cell proliferation | 8/1910 | 21/18723 | 6.95e-04 | 5.94e-03 | 8 |
GO:00456195 | Skin | AK | regulation of lymphocyte differentiation | 32/1910 | 174/18723 | 7.11e-04 | 6.04e-03 | 32 |
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 |