GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000616418 | Skin | cSCC | purine nucleotide biosynthetic process | 73/4864 | 191/18723 | 1.28e-04 | 1.17e-03 | 73 |
GO:00705849 | Skin | cSCC | mitochondrion morphogenesis | 13/4864 | 21/18723 | 5.53e-04 | 4.05e-03 | 13 |
GO:00159362 | Skin | cSCC | coenzyme A metabolic process | 10/4864 | 18/18723 | 7.25e-03 | 3.44e-02 | 10 |
GO:00067672 | Skin | cSCC | water-soluble vitamin metabolic process | 24/4864 | 59/18723 | 9.59e-03 | 4.30e-02 | 24 |
GO:0009060112 | Thyroid | PTC | aerobic respiration | 126/5968 | 189/18723 | 7.07e-23 | 1.78e-20 | 126 |
GO:0006091112 | Thyroid | PTC | generation of precursor metabolites and energy | 252/5968 | 490/18723 | 8.24e-20 | 1.13e-17 | 252 |
GO:0045333112 | Thyroid | PTC | cellular respiration | 140/5968 | 230/18723 | 9.60e-20 | 1.26e-17 | 140 |
GO:0015980111 | Thyroid | PTC | energy derivation by oxidation of organic compounds | 176/5968 | 318/18723 | 2.67e-18 | 2.90e-16 | 176 |
GO:000734619 | Thyroid | PTC | regulation of mitotic cell cycle | 212/5968 | 457/18723 | 4.03e-11 | 1.44e-09 | 212 |
GO:0071496113 | Thyroid | PTC | cellular response to external stimulus | 158/5968 | 320/18723 | 4.12e-11 | 1.47e-09 | 158 |
GO:000726519 | Thyroid | PTC | Ras protein signal transduction | 162/5968 | 337/18723 | 3.16e-10 | 1.02e-08 | 162 |
GO:004477218 | Thyroid | PTC | mitotic cell cycle phase transition | 196/5968 | 424/18723 | 3.17e-10 | 1.02e-08 | 196 |
GO:0048545113 | Thyroid | PTC | response to steroid hormone | 158/5968 | 339/18723 | 8.10e-09 | 2.00e-07 | 158 |
GO:0031668113 | Thyroid | PTC | cellular response to extracellular stimulus | 120/5968 | 246/18723 | 2.13e-08 | 4.91e-07 | 120 |
GO:003052228 | Thyroid | PTC | intracellular receptor signaling pathway | 126/5968 | 265/18723 | 6.31e-08 | 1.31e-06 | 126 |
GO:0031669112 | Thyroid | PTC | cellular response to nutrient levels | 106/5968 | 215/18723 | 6.96e-08 | 1.44e-06 | 106 |
GO:001969327 | Thyroid | PTC | ribose phosphate metabolic process | 176/5968 | 396/18723 | 8.28e-08 | 1.70e-06 | 176 |
GO:000915028 | Thyroid | PTC | purine ribonucleotide metabolic process | 165/5968 | 368/18723 | 1.03e-07 | 2.05e-06 | 165 |
GO:19019908 | Thyroid | PTC | regulation of mitotic cell cycle phase transition | 138/5968 | 299/18723 | 1.44e-07 | 2.78e-06 | 138 |
GO:007252127 | Thyroid | PTC | purine-containing compound metabolic process | 182/5968 | 416/18723 | 1.92e-07 | 3.51e-06 | 182 |
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 |
ANK2 | SNV | Missense_Mutation | rs775323997 | c.3094N>A | p.Glu1032Lys | p.E1032K | Q01484 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ANK2 | SNV | Missense_Mutation | novel | c.6349N>A | p.Asp2117Asn | p.D2117N | Q01484 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.642) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ANK2 | SNV | Missense_Mutation | | c.2728C>G | p.Leu910Val | p.L910V | Q01484 | protein_coding | tolerated(0.07) | benign(0.135) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
ANK2 | SNV | Missense_Mutation | rs754722115 | c.4280N>A | p.Arg1427Gln | p.R1427Q | Q01484 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A7-A4SC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ANK2 | SNV | Missense_Mutation | rs367592943 | c.5827G>A | p.Gly1943Arg | p.G1943R | Q01484 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.506) | TCGA-A8-A06T-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
ANK2 | SNV | Missense_Mutation | | c.4222N>A | p.Glu1408Lys | p.E1408K | Q01484 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ANK2 | SNV | Missense_Mutation | | c.7868N>A | p.Ser2623Tyr | p.S2623Y | Q01484 | protein_coding | tolerated_low_confidence(0.83) | possibly_damaging(0.66) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ANK2 | SNV | Missense_Mutation | novel | c.6215C>A | p.Ser2072Tyr | p.S2072Y | Q01484 | protein_coding | tolerated_low_confidence(0.07) | benign(0.367) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANK2 | SNV | Missense_Mutation | novel | c.7594G>T | p.Gly2532Trp | p.G2532W | Q01484 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANK2 | SNV | Missense_Mutation | novel | c.8177C>A | p.Thr2726Asn | p.T2726N | Q01484 | protein_coding | tolerated_low_confidence(0.51) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |