GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0001503110 | Thyroid | PTC | ossification | 176/5968 | 408/18723 | 9.26e-07 | 1.40e-05 | 176 |
GO:002191514 | Thyroid | PTC | neural tube development | 76/5968 | 152/18723 | 2.40e-06 | 3.17e-05 | 76 |
GO:00302785 | Thyroid | PTC | regulation of ossification | 51/5968 | 115/18723 | 3.30e-03 | 1.61e-02 | 51 |
GO:00017389 | Thyroid | PTC | morphogenesis of a polarized epithelium | 41/5968 | 94/18723 | 1.10e-02 | 4.38e-02 | 41 |
GO:000150332 | Thyroid | ATC | ossification | 206/6293 | 408/18723 | 9.23e-13 | 3.95e-11 | 206 |
GO:002191515 | Thyroid | ATC | neural tube development | 80/6293 | 152/18723 | 9.87e-07 | 1.29e-05 | 80 |
GO:003027813 | Thyroid | ATC | regulation of ossification | 60/6293 | 115/18723 | 3.01e-05 | 2.51e-04 | 60 |
GO:00513027 | Thyroid | ATC | regulation of cell division | 80/6293 | 177/18723 | 8.54e-04 | 4.68e-03 | 80 |
GO:00600211 | Thyroid | ATC | roof of mouth development | 42/6293 | 85/18723 | 1.83e-03 | 9.02e-03 | 42 |
GO:00351074 | Thyroid | ATC | appendage morphogenesis | 63/6293 | 138/18723 | 2.13e-03 | 1.00e-02 | 63 |
GO:00351084 | Thyroid | ATC | limb morphogenesis | 63/6293 | 138/18723 | 2.13e-03 | 1.00e-02 | 63 |
GO:0008589 | Thyroid | ATC | regulation of smoothened signaling pathway | 40/6293 | 81/18723 | 2.36e-03 | 1.10e-02 | 40 |
GO:00487368 | Thyroid | ATC | appendage development | 76/6293 | 172/18723 | 2.41e-03 | 1.12e-02 | 76 |
GO:00601738 | Thyroid | ATC | limb development | 76/6293 | 172/18723 | 2.41e-03 | 1.12e-02 | 76 |
GO:000173814 | Thyroid | ATC | morphogenesis of a polarized epithelium | 45/6293 | 94/18723 | 2.86e-03 | 1.30e-02 | 45 |
GO:0050673111 | Thyroid | ATC | epithelial cell proliferation | 174/6293 | 437/18723 | 3.49e-03 | 1.55e-02 | 174 |
GO:0050678110 | Thyroid | ATC | regulation of epithelial cell proliferation | 151/6293 | 381/18723 | 7.47e-03 | 2.92e-02 | 151 |
GO:00303262 | Thyroid | ATC | embryonic limb morphogenesis | 52/6293 | 116/18723 | 7.67e-03 | 3.00e-02 | 52 |
GO:00351132 | Thyroid | ATC | embryonic appendage morphogenesis | 52/6293 | 116/18723 | 7.67e-03 | 3.00e-02 | 52 |
GO:0007224 | Thyroid | ATC | smoothened signaling pathway | 60/6293 | 138/18723 | 9.75e-03 | 3.57e-02 | 60 |
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 |
INTU | SNV | Missense_Mutation | | c.824N>A | p.Arg275Lys | p.R275K | Q9ULD6 | protein_coding | tolerated(0.71) | benign(0) | TCGA-A2-A0CM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | PD |
INTU | SNV | Missense_Mutation | novel | c.1575N>C | p.Leu525Phe | p.L525F | Q9ULD6 | protein_coding | deleterious(0) | probably_damaging(0.911) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
INTU | SNV | Missense_Mutation | | c.55N>A | p.Asp19Asn | p.D19N | Q9ULD6 | protein_coding | tolerated_low_confidence(0.06) | benign(0.196) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
INTU | SNV | Missense_Mutation | | c.593N>A | p.Arg198Lys | p.R198K | Q9ULD6 | protein_coding | tolerated(0.15) | benign(0) | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
INTU | SNV | Missense_Mutation | | c.97N>C | p.Asp33His | p.D33H | Q9ULD6 | protein_coding | deleterious(0.01) | benign(0.443) | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
INTU | SNV | Missense_Mutation | | c.2557N>A | p.Glu853Lys | p.E853K | Q9ULD6 | protein_coding | tolerated(0.5) | benign(0.003) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
INTU | SNV | Missense_Mutation | | c.2804A>C | p.Lys935Thr | p.K935T | Q9ULD6 | protein_coding | deleterious(0) | possibly_damaging(0.714) | TCGA-BH-A1F6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
INTU | SNV | Missense_Mutation | rs376167283 | c.1337C>T | p.Ala446Val | p.A446V | Q9ULD6 | protein_coding | tolerated(0.25) | benign(0.052) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
INTU | SNV | Missense_Mutation | rs755278340 | c.1735A>G | p.Thr579Ala | p.T579A | Q9ULD6 | protein_coding | tolerated(0.75) | benign(0) | TCGA-BI-A0VS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
INTU | SNV | Missense_Mutation | | c.2144N>A | p.Gly715Glu | p.G715E | Q9ULD6 | protein_coding | tolerated(0.21) | benign(0.127) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |