GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00456041 | Lung | AIS | regulation of epidermal cell differentiation | 14/1849 | 58/18723 | 1.25e-03 | 1.57e-02 | 14 |
GO:000037713 | Lung | AIS | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 49/1849 | 320/18723 | 1.30e-03 | 1.63e-02 | 49 |
GO:000039813 | Lung | AIS | mRNA splicing, via spliceosome | 49/1849 | 320/18723 | 1.30e-03 | 1.63e-02 | 49 |
GO:004873213 | Lung | AIS | gland development | 63/1849 | 436/18723 | 1.34e-03 | 1.66e-02 | 63 |
GO:0018212 | Lung | AIS | peptidyl-tyrosine modification | 56/1849 | 378/18723 | 1.35e-03 | 1.68e-02 | 56 |
GO:19028551 | Lung | AIS | regulation of non-motile cilium assembly | 5/1849 | 10/18723 | 1.54e-03 | 1.82e-02 | 5 |
GO:19029461 | Lung | AIS | protein localization to early endosome | 5/1849 | 10/18723 | 1.54e-03 | 1.82e-02 | 5 |
GO:005109913 | Lung | AIS | positive regulation of binding | 30/1849 | 173/18723 | 1.61e-03 | 1.87e-02 | 30 |
GO:003502312 | Lung | AIS | regulation of Rho protein signal transduction | 18/1849 | 86/18723 | 1.62e-03 | 1.87e-02 | 18 |
GO:000315812 | Lung | AIS | endothelium development | 25/1849 | 136/18723 | 1.67e-03 | 1.90e-02 | 25 |
GO:000037513 | Lung | AIS | RNA splicing, via transesterification reactions | 49/1849 | 324/18723 | 1.69e-03 | 1.93e-02 | 49 |
GO:003030712 | Lung | AIS | positive regulation of cell growth | 29/1849 | 166/18723 | 1.70e-03 | 1.93e-02 | 29 |
GO:00400131 | Lung | AIS | negative regulation of locomotion | 57/1849 | 391/18723 | 1.80e-03 | 2.03e-02 | 57 |
GO:0140058 | Lung | AIS | neuron projection arborization | 9/1849 | 30/18723 | 1.83e-03 | 2.05e-02 | 9 |
GO:003253513 | Lung | AIS | regulation of cellular component size | 56/1849 | 383/18723 | 1.83e-03 | 2.05e-02 | 56 |
GO:003444613 | Lung | AIS | substrate adhesion-dependent cell spreading | 21/1849 | 108/18723 | 1.86e-03 | 2.07e-02 | 21 |
GO:0018108 | Lung | AIS | peptidyl-tyrosine phosphorylation | 55/1849 | 375/18723 | 1.87e-03 | 2.08e-02 | 55 |
GO:005067312 | Lung | AIS | epithelial cell proliferation | 62/1849 | 437/18723 | 2.26e-03 | 2.39e-02 | 62 |
GO:003090011 | Lung | AIS | forebrain development | 55/1849 | 379/18723 | 2.37e-03 | 2.48e-02 | 55 |
GO:00468471 | Lung | AIS | filopodium assembly | 14/1849 | 62/18723 | 2.46e-03 | 2.55e-02 | 14 |
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 |