GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003596727 | Thyroid | HT | cellular response to topologically incorrect protein | 23/1272 | 116/18723 | 2.83e-06 | 9.85e-05 | 23 |
GO:000756828 | Thyroid | HT | aging | 46/1272 | 339/18723 | 5.52e-06 | 1.68e-04 | 46 |
GO:00342498 | Thyroid | HT | negative regulation of cellular amide metabolic process | 39/1272 | 273/18723 | 8.37e-06 | 2.34e-04 | 39 |
GO:00075178 | Thyroid | HT | muscle organ development | 44/1272 | 327/18723 | 1.09e-05 | 2.91e-04 | 44 |
GO:00426929 | Thyroid | HT | muscle cell differentiation | 49/1272 | 384/18723 | 1.52e-05 | 3.78e-04 | 49 |
GO:190237316 | Thyroid | HT | negative regulation of mRNA catabolic process | 15/1272 | 63/18723 | 1.54e-05 | 3.80e-04 | 15 |
GO:00511469 | Thyroid | HT | striated muscle cell differentiation | 39/1272 | 283/18723 | 1.95e-05 | 4.58e-04 | 39 |
GO:190390027 | Thyroid | HT | regulation of viral life cycle | 25/1272 | 148/18723 | 2.07e-05 | 4.70e-04 | 25 |
GO:003096820 | Thyroid | HT | endoplasmic reticulum unfolded protein response | 16/1272 | 74/18723 | 2.95e-05 | 6.33e-04 | 16 |
GO:190236919 | Thyroid | HT | negative regulation of RNA catabolic process | 16/1272 | 75/18723 | 3.51e-05 | 7.35e-04 | 16 |
GO:003166729 | Thyroid | HT | response to nutrient levels | 56/1272 | 474/18723 | 3.66e-05 | 7.57e-04 | 56 |
GO:190165426 | Thyroid | HT | response to ketone | 29/1272 | 194/18723 | 5.04e-05 | 9.95e-04 | 29 |
GO:190495127 | Thyroid | HT | positive regulation of establishment of protein localization | 41/1272 | 319/18723 | 6.22e-05 | 1.16e-03 | 41 |
GO:004348825 | Thyroid | HT | regulation of mRNA stability | 25/1272 | 158/18723 | 6.37e-05 | 1.17e-03 | 25 |
GO:004825516 | Thyroid | HT | mRNA stabilization | 13/1272 | 56/18723 | 7.46e-05 | 1.34e-03 | 13 |
GO:007052723 | Thyroid | HT | platelet aggregation | 14/1272 | 67/18723 | 1.35e-04 | 2.12e-03 | 14 |
GO:006101324 | Thyroid | HT | regulation of mRNA catabolic process | 25/1272 | 166/18723 | 1.44e-04 | 2.21e-03 | 25 |
GO:004259423 | Thyroid | HT | response to starvation | 28/1272 | 197/18723 | 1.64e-04 | 2.45e-03 | 28 |
GO:009015025 | Thyroid | HT | establishment of protein localization to membrane | 34/1272 | 260/18723 | 1.83e-04 | 2.69e-03 | 34 |
GO:005122227 | Thyroid | HT | positive regulation of protein transport | 38/1272 | 303/18723 | 1.90e-04 | 2.78e-03 | 38 |
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 |