GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:009028721 | Thyroid | ATC | regulation of cellular response to growth factor stimulus | 140/6293 | 304/18723 | 3.91e-06 | 4.33e-05 | 140 |
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:001402017 | Thyroid | ATC | primary neural tube formation | 53/6293 | 94/18723 | 4.69e-06 | 5.11e-05 | 53 |
GO:000184316 | Thyroid | ATC | neural tube closure | 50/6293 | 88/18723 | 6.43e-06 | 6.68e-05 | 50 |
GO:0030218210 | Thyroid | ATC | erythrocyte differentiation | 64/6293 | 120/18723 | 6.52e-06 | 6.76e-05 | 64 |
GO:009009214 | Thyroid | ATC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 120/6293 | 256/18723 | 6.62e-06 | 6.85e-05 | 120 |
GO:006060616 | Thyroid | ATC | tube closure | 50/6293 | 89/18723 | 9.90e-06 | 9.87e-05 | 50 |
GO:000327912 | Thyroid | ATC | cardiac septum development | 56/6293 | 103/18723 | 1.14e-05 | 1.11e-04 | 56 |
GO:007217522 | Thyroid | ATC | epithelial tube formation | 68/6293 | 132/18723 | 1.59e-05 | 1.48e-04 | 68 |
GO:004654621 | Thyroid | ATC | development of primary male sexual characteristics | 72/6293 | 142/18723 | 1.85e-05 | 1.69e-04 | 72 |
GO:001470622 | Thyroid | ATC | striated muscle tissue development | 168/6293 | 384/18723 | 1.91e-05 | 1.73e-04 | 168 |
GO:001633114 | Thyroid | ATC | morphogenesis of embryonic epithelium | 74/6293 | 147/18723 | 1.96e-05 | 1.77e-04 | 74 |
GO:004592622 | Thyroid | ATC | negative regulation of growth | 115/6293 | 249/18723 | 2.34e-05 | 2.06e-04 | 115 |
GO:003440512 | Thyroid | ATC | response to fluid shear stress | 24/6293 | 35/18723 | 2.49e-05 | 2.16e-04 | 24 |
GO:003514823 | Thyroid | ATC | tube formation | 74/6293 | 148/18723 | 2.65e-05 | 2.27e-04 | 74 |
GO:000858421 | Thyroid | ATC | male gonad development | 71/6293 | 141/18723 | 2.83e-05 | 2.38e-04 | 71 |
GO:000320512 | Thyroid | ATC | cardiac chamber development | 79/6293 | 161/18723 | 3.39e-05 | 2.80e-04 | 79 |
GO:004886321 | Thyroid | ATC | stem cell differentiation | 97/6293 | 206/18723 | 3.88e-05 | 3.15e-04 | 97 |
GO:0060349 | Thyroid | ATC | bone morphogenesis | 50/6293 | 93/18723 | 4.87e-05 | 3.88e-04 | 50 |
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 |