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 | rs762593672 | c.4826G>A | p.Arg1609Gln | p.R1609Q | Q13219 | protein_coding | deleterious(0.01) | possibly_damaging(0.638) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | rs374066435 | c.2570N>T | p.Thr857Met | p.T857M | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A0LD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | rs571065606 | c.538N>T | p.Arg180Trp | p.R180W | Q13219 | protein_coding | deleterious(0.01) | probably_damaging(0.977) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PAPPA | SNV | Missense_Mutation | | c.1066N>T | p.Arg356Cys | p.R356C | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PAPPA | SNV | Missense_Mutation | rs756381219 | c.3289N>A | p.Ala1097Thr | p.A1097T | Q13219 | protein_coding | tolerated(0.65) | benign(0.019) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
PAPPA | SNV | Missense_Mutation | novel | c.443N>T | p.Ser148Leu | p.S148L | Q13219 | protein_coding | tolerated(0.56) | possibly_damaging(0.877) | TCGA-AP-A1DM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | rs779997395 | c.3155N>A | p.Arg1052Gln | p.R1052Q | Q13219 | protein_coding | tolerated(0.39) | benign(0.019) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | novel | c.2452N>A | p.Leu818Met | p.L818M | Q13219 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
PAPPA | SNV | Missense_Mutation | rs772505588 | c.3544N>A | p.Asp1182Asn | p.D1182N | Q13219 | protein_coding | tolerated(0.42) | benign(0.062) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAPPA | SNV | Missense_Mutation | | c.4097N>C | p.Lys1366Thr | p.K1366T | Q13219 | protein_coding | tolerated(0.12) | possibly_damaging(0.596) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |