GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0051169112 | Thyroid | PTC | nuclear transport | 181/5968 | 301/18723 | 2.93e-24 | 7.69e-22 | 181 |
GO:0016055110 | Thyroid | PTC | Wnt signaling pathway | 217/5968 | 444/18723 | 3.71e-14 | 2.30e-12 | 217 |
GO:0198738110 | Thyroid | PTC | cell-cell signaling by wnt | 217/5968 | 446/18723 | 6.68e-14 | 3.73e-12 | 217 |
GO:0030111110 | Thyroid | PTC | regulation of Wnt signaling pathway | 163/5968 | 328/18723 | 1.05e-11 | 4.29e-10 | 163 |
GO:007155919 | Thyroid | PTC | response to transforming growth factor beta | 131/5968 | 256/18723 | 9.20e-11 | 3.17e-09 | 131 |
GO:0001701111 | Thyroid | PTC | in utero embryonic development | 175/5968 | 367/18723 | 1.40e-10 | 4.73e-09 | 175 |
GO:0070482113 | Thyroid | PTC | response to oxygen levels | 167/5968 | 347/18723 | 1.51e-10 | 5.03e-09 | 167 |
GO:0070997113 | Thyroid | PTC | neuron death | 171/5968 | 361/18723 | 4.32e-10 | 1.38e-08 | 171 |
GO:007156019 | Thyroid | PTC | cellular response to transforming growth factor beta stimulus | 126/5968 | 250/18723 | 7.34e-10 | 2.19e-08 | 126 |
GO:000717919 | Thyroid | PTC | transforming growth factor beta receptor signaling pathway | 104/5968 | 198/18723 | 1.20e-09 | 3.47e-08 | 104 |
GO:0036293113 | Thyroid | PTC | response to decreased oxygen levels | 153/5968 | 322/18723 | 2.71e-09 | 7.52e-08 | 153 |
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:0001666113 | Thyroid | PTC | response to hypoxia | 145/5968 | 307/18723 | 1.14e-08 | 2.74e-07 | 145 |
GO:0048732113 | Thyroid | PTC | gland development | 193/5968 | 436/18723 | 2.88e-08 | 6.42e-07 | 193 |
GO:0001889112 | Thyroid | PTC | liver development | 79/5968 | 147/18723 | 3.08e-08 | 6.82e-07 | 79 |
GO:0061008112 | Thyroid | PTC | hepaticobiliary system development | 80/5968 | 150/18723 | 3.94e-08 | 8.55e-07 | 80 |
GO:003052228 | Thyroid | PTC | intracellular receptor signaling pathway | 126/5968 | 265/18723 | 6.31e-08 | 1.31e-06 | 126 |
GO:0051402112 | Thyroid | PTC | neuron apoptotic process | 118/5968 | 246/18723 | 8.99e-08 | 1.81e-06 | 118 |
GO:004578718 | Thyroid | PTC | positive regulation of cell cycle | 144/5968 | 313/18723 | 9.93e-08 | 1.99e-06 | 144 |
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 |
CIT | SNV | Missense_Mutation | rs779515686 | c.4130N>T | p.Pro1377Leu | p.P1377L | O14578 | protein_coding | deleterious(0) | benign(0.248) | TCGA-A2-A0EW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
CIT | SNV | Missense_Mutation | | c.5132C>T | p.Ser1711Phe | p.S1711F | O14578 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-A2-A0SV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate therapy | zometa | PD |
CIT | SNV | Missense_Mutation | novel | c.2482N>A | p.Glu828Lys | p.E828K | O14578 | protein_coding | deleterious(0.04) | possibly_damaging(0.628) | TCGA-A2-A25C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
CIT | SNV | Missense_Mutation | | c.3097G>T | p.Val1033Leu | p.V1033L | O14578 | protein_coding | tolerated(0.08) | probably_damaging(0.978) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
CIT | SNV | Missense_Mutation | rs747447396 | c.2839C>T | p.Arg947Cys | p.R947C | O14578 | protein_coding | deleterious(0.02) | possibly_damaging(0.446) | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | rs747447396 | c.2839N>T | p.Arg947Cys | p.R947C | O14578 | protein_coding | deleterious(0.02) | possibly_damaging(0.446) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CIT | SNV | Missense_Mutation | | c.242N>T | p.Ser81Phe | p.S81F | O14578 | protein_coding | deleterious(0.02) | benign(0.17) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CIT | SNV | Missense_Mutation | novel | c.637N>T | p.His213Tyr | p.H213Y | O14578 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
CIT | SNV | Missense_Mutation | rs368981957 | c.5590N>A | p.Asp1864Asn | p.D1864N | O14578 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CIT | SNV | Missense_Mutation | novel | c.1771N>A | p.Glu591Lys | p.E591K | O14578 | protein_coding | tolerated(0.31) | benign(0.019) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |