GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0071214111 | Thyroid | PTC | cellular response to abiotic stimulus | 158/5968 | 331/18723 | 9.90e-10 | 2.89e-08 | 158 |
GO:0104004111 | Thyroid | PTC | cellular response to environmental stimulus | 158/5968 | 331/18723 | 9.90e-10 | 2.89e-08 | 158 |
GO:0032204110 | Thyroid | PTC | regulation of telomere maintenance | 52/5968 | 80/18723 | 1.15e-09 | 3.34e-08 | 52 |
GO:000717919 | Thyroid | PTC | transforming growth factor beta receptor signaling pathway | 104/5968 | 198/18723 | 1.20e-09 | 3.47e-08 | 104 |
GO:0043393111 | Thyroid | PTC | regulation of protein binding | 103/5968 | 196/18723 | 1.39e-09 | 3.96e-08 | 103 |
GO:0010810112 | Thyroid | PTC | regulation of cell-substrate adhesion | 113/5968 | 221/18723 | 1.87e-09 | 5.28e-08 | 113 |
GO:0031589111 | Thyroid | PTC | cell-substrate adhesion | 169/5968 | 363/18723 | 2.73e-09 | 7.57e-08 | 169 |
GO:0010639112 | Thyroid | PTC | negative regulation of organelle organization | 163/5968 | 348/18723 | 3.04e-09 | 8.39e-08 | 163 |
GO:0048524112 | Thyroid | PTC | positive regulation of viral process | 44/5968 | 65/18723 | 3.24e-09 | 8.76e-08 | 44 |
GO:003010020 | Thyroid | PTC | regulation of endocytosis | 108/5968 | 211/18723 | 3.92e-09 | 1.04e-07 | 108 |
GO:0001558111 | Thyroid | PTC | regulation of cell growth | 188/5968 | 414/18723 | 4.13e-09 | 1.09e-07 | 188 |
GO:0043434113 | Thyroid | PTC | response to peptide hormone | 188/5968 | 414/18723 | 4.13e-09 | 1.09e-07 | 188 |
GO:1901214113 | Thyroid | PTC | regulation of neuron death | 151/5968 | 319/18723 | 4.74e-09 | 1.24e-07 | 151 |
GO:0000723111 | Thyroid | PTC | telomere maintenance | 74/5968 | 131/18723 | 4.85e-09 | 1.26e-07 | 74 |
GO:0019079113 | Thyroid | PTC | viral genome replication | 74/5968 | 131/18723 | 4.85e-09 | 1.26e-07 | 74 |
GO:0030968111 | Thyroid | PTC | endoplasmic reticulum unfolded protein response | 48/5968 | 74/18723 | 5.52e-09 | 1.41e-07 | 48 |
GO:0051893111 | Thyroid | PTC | regulation of focal adhesion assembly | 44/5968 | 66/18723 | 6.73e-09 | 1.70e-07 | 44 |
GO:0090109111 | Thyroid | PTC | regulation of cell-substrate junction assembly | 44/5968 | 66/18723 | 6.73e-09 | 1.70e-07 | 44 |
GO:000689317 | Thyroid | PTC | Golgi to plasma membrane transport | 41/5968 | 60/18723 | 7.26e-09 | 1.82e-07 | 41 |
GO:0042060112 | Thyroid | PTC | wound healing | 190/5968 | 422/18723 | 7.72e-09 | 1.92e-07 | 190 |
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 |