GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1903312210 | Thyroid | ATC | negative regulation of mRNA metabolic process | 53/6293 | 92/18723 | 1.93e-06 | 2.32e-05 | 53 |
GO:005077011 | Thyroid | ATC | regulation of axonogenesis | 80/6293 | 154/18723 | 1.95e-06 | 2.34e-05 | 80 |
GO:006048521 | Thyroid | ATC | mesenchyme development | 136/6293 | 291/18723 | 2.04e-06 | 2.43e-05 | 136 |
GO:004352323 | Thyroid | ATC | regulation of neuron apoptotic process | 104/6293 | 212/18723 | 2.16e-06 | 2.58e-05 | 104 |
GO:005140326 | Thyroid | ATC | stress-activated MAPK cascade | 115/6293 | 239/18723 | 2.17e-06 | 2.58e-05 | 115 |
GO:000616328 | Thyroid | ATC | purine nucleotide metabolic process | 177/6293 | 396/18723 | 2.39e-06 | 2.82e-05 | 177 |
GO:004800815 | Thyroid | ATC | platelet-derived growth factor receptor signaling pathway | 36/6293 | 56/18723 | 2.57e-06 | 3.00e-05 | 36 |
GO:005196014 | Thyroid | ATC | regulation of nervous system development | 195/6293 | 443/18723 | 2.62e-06 | 3.06e-05 | 195 |
GO:190390028 | Thyroid | ATC | regulation of viral life cycle | 77/6293 | 148/18723 | 2.79e-06 | 3.21e-05 | 77 |
GO:001908322 | Thyroid | ATC | viral transcription | 33/6293 | 50/18723 | 2.83e-06 | 3.26e-05 | 33 |
GO:005110133 | Thyroid | ATC | regulation of DNA binding | 64/6293 | 118/18723 | 3.10e-06 | 3.54e-05 | 64 |
GO:004657818 | Thyroid | ATC | regulation of Ras protein signal transduction | 94/6293 | 189/18723 | 3.12e-06 | 3.55e-05 | 94 |
GO:007145624 | Thyroid | ATC | cellular response to hypoxia | 78/6293 | 151/18723 | 3.44e-06 | 3.86e-05 | 78 |
GO:004328133 | Thyroid | ATC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 102/6293 | 209/18723 | 3.61e-06 | 4.03e-05 | 102 |
GO:000919926 | Thyroid | ATC | ribonucleoside triphosphate metabolic process | 51/6293 | 89/18723 | 3.72e-06 | 4.12e-05 | 51 |
GO:009028721 | Thyroid | ATC | regulation of cellular response to growth factor stimulus | 140/6293 | 304/18723 | 3.91e-06 | 4.33e-05 | 140 |
GO:0051604110 | Thyroid | ATC | protein maturation | 136/6293 | 294/18723 | 4.00e-06 | 4.42e-05 | 136 |
GO:000183823 | Thyroid | ATC | embryonic epithelial tube formation | 65/6293 | 121/18723 | 4.02e-06 | 4.43e-05 | 65 |
GO:003009933 | Thyroid | ATC | myeloid cell differentiation | 170/6293 | 381/18723 | 4.26e-06 | 4.68e-05 | 170 |
GO:0051881110 | Thyroid | ATC | regulation of mitochondrial membrane potential | 44/6293 | 74/18723 | 4.51e-06 | 4.94e-05 | 44 |
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 |