GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0048545113 | Thyroid | PTC | response to steroid hormone | 158/5968 | 339/18723 | 8.10e-09 | 2.00e-07 | 158 |
GO:0031960111 | Thyroid | PTC | response to corticosteroid | 69/5968 | 167/18723 | 6.18e-03 | 2.74e-02 | 69 |
GO:0051384111 | Thyroid | PTC | response to glucocorticoid | 62/5968 | 148/18723 | 6.39e-03 | 2.81e-02 | 62 |
GO:001604927 | Thyroid | ATC | cell growth | 241/6293 | 482/18723 | 4.27e-14 | 2.35e-12 | 241 |
GO:000155826 | Thyroid | ATC | regulation of cell growth | 201/6293 | 414/18723 | 1.57e-10 | 4.76e-09 | 201 |
GO:0048545210 | Thyroid | ATC | response to steroid hormone | 168/6293 | 339/18723 | 7.21e-10 | 1.88e-08 | 168 |
GO:006034813 | Thyroid | ATC | bone development | 102/6293 | 205/18723 | 1.18e-06 | 1.52e-05 | 102 |
GO:0060349 | Thyroid | ATC | bone morphogenesis | 50/6293 | 93/18723 | 4.87e-05 | 3.88e-04 | 50 |
GO:00487053 | Thyroid | ATC | skeletal system morphogenesis | 101/6293 | 220/18723 | 9.48e-05 | 6.93e-04 | 101 |
GO:000697016 | Thyroid | ATC | response to osmotic stress | 45/6293 | 84/18723 | 1.27e-04 | 9.03e-04 | 45 |
GO:005138427 | Thyroid | ATC | response to glucocorticoid | 65/6293 | 148/18723 | 5.62e-03 | 2.28e-02 | 65 |
GO:000756517 | Thyroid | ATC | female pregnancy | 82/6293 | 193/18723 | 6.04e-03 | 2.42e-02 | 82 |
GO:003196027 | Thyroid | ATC | response to corticosteroid | 72/6293 | 167/18723 | 6.39e-03 | 2.55e-02 | 72 |
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 |
PAPPA | SNV | Missense_Mutation | rs756381219 | c.3289N>A | p.Ala1097Thr | p.A1097T | Q13219 | protein_coding | tolerated(0.65) | benign(0.019) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | novel | c.1337N>A | p.Pro446His | p.P446H | Q13219 | protein_coding | tolerated(0.17) | benign(0.264) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
PAPPA | SNV | Missense_Mutation | novel | c.1730N>C | p.Ile577Thr | p.I577T | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.936) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
PAPPA | SNV | Missense_Mutation | novel | c.1868N>A | p.Gly623Asp | p.G623D | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
PAPPA | SNV | Missense_Mutation | novel | c.2909N>A | p.Gly970Asp | p.G970D | Q13219 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
PAPPA | SNV | Missense_Mutation | novel | c.2793N>T | p.Glu931Asp | p.E931D | Q13219 | protein_coding | tolerated(0.54) | benign(0.022) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
PAPPA | SNV | Missense_Mutation | novel | c.1016N>T | p.Ala339Val | p.A339V | Q13219 | protein_coding | tolerated(0.18) | benign(0.024) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | rs756844986 | c.2965N>T | p.Arg989Trp | p.R989W | Q13219 | protein_coding | deleterious(0.01) | possibly_damaging(0.871) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | | c.3987N>G | p.Cys1329Trp | p.C1329W | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | novel | c.1689N>T | p.Glu563Asp | p.E563D | Q13219 | protein_coding | deleterious(0) | possibly_damaging(0.848) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |