GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001969328 | Thyroid | ATC | ribose phosphate metabolic process | 184/6293 | 396/18723 | 5.87e-08 | 1.05e-06 | 184 |
GO:000915029 | Thyroid | ATC | purine ribonucleotide metabolic process | 172/6293 | 368/18723 | 9.58e-08 | 1.64e-06 | 172 |
GO:000925928 | Thyroid | ATC | ribonucleotide metabolic process | 178/6293 | 385/18723 | 1.47e-07 | 2.39e-06 | 178 |
GO:007252128 | Thyroid | ATC | purine-containing compound metabolic process | 189/6293 | 416/18723 | 2.83e-07 | 4.29e-06 | 189 |
GO:0006753111 | Thyroid | ATC | nucleoside phosphate metabolic process | 219/6293 | 497/18723 | 5.92e-07 | 8.29e-06 | 219 |
GO:0009117112 | Thyroid | ATC | nucleotide metabolic process | 215/6293 | 489/18723 | 9.09e-07 | 1.20e-05 | 215 |
GO:000616328 | Thyroid | ATC | purine nucleotide metabolic process | 177/6293 | 396/18723 | 2.39e-06 | 2.82e-05 | 177 |
GO:000915225 | Thyroid | ATC | purine ribonucleotide biosynthetic process | 84/6293 | 169/18723 | 1.05e-05 | 1.04e-04 | 84 |
GO:004639025 | Thyroid | ATC | ribose phosphate biosynthetic process | 92/6293 | 190/18723 | 1.57e-05 | 1.46e-04 | 92 |
GO:000926025 | Thyroid | ATC | ribonucleotide biosynthetic process | 88/6293 | 182/18723 | 2.55e-05 | 2.20e-04 | 88 |
GO:007252223 | Thyroid | ATC | purine-containing compound biosynthetic process | 92/6293 | 200/18723 | 1.74e-04 | 1.18e-03 | 92 |
GO:000616423 | Thyroid | ATC | purine nucleotide biosynthetic process | 87/6293 | 191/18723 | 3.83e-04 | 2.32e-03 | 87 |
GO:190129318 | Thyroid | ATC | nucleoside phosphate biosynthetic process | 110/6293 | 256/18723 | 1.06e-03 | 5.58e-03 | 110 |
GO:000916518 | Thyroid | ATC | nucleotide biosynthetic process | 109/6293 | 254/18723 | 1.17e-03 | 6.15e-03 | 109 |
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 |
GUCY1A2 | SNV | Missense_Mutation | novel | c.1573T>C | p.Ser525Pro | p.S525P | P33402 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
GUCY1A2 | insertion | Frame_Shift_Ins | novel | c.1981_1982insATAATATCTTGGA | p.Arg661HisfsTer15 | p.R661Hfs*15 | P33402 | protein_coding | | | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GUCY1A2 | SNV | Missense_Mutation | novel | c.605G>A | p.Gly202Asp | p.G202D | P33402 | protein_coding | tolerated(0.13) | probably_damaging(0.939) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GUCY1A2 | SNV | Missense_Mutation | rs367879752 | c.1093N>A | p.Glu365Lys | p.E365K | P33402 | protein_coding | tolerated(0.24) | possibly_damaging(0.771) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GUCY1A2 | SNV | Missense_Mutation | rs764427823 | c.604N>A | p.Gly202Ser | p.G202S | P33402 | protein_coding | tolerated(1) | benign(0.155) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GUCY1A2 | SNV | Missense_Mutation | | c.384G>T | p.Lys128Asn | p.K128N | P33402 | protein_coding | tolerated(0.1) | benign(0.098) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GUCY1A2 | SNV | Missense_Mutation | | c.2143N>T | p.Asp715Tyr | p.D715Y | P33402 | protein_coding | deleterious(0.01) | possibly_damaging(0.847) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GUCY1A2 | SNV | Missense_Mutation | | c.407N>A | p.Arg136Lys | p.R136K | P33402 | protein_coding | tolerated(0.66) | benign(0.003) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GUCY1A2 | SNV | Missense_Mutation | rs748015731 | c.2120C>T | p.Pro707Leu | p.P707L | P33402 | protein_coding | deleterious(0) | benign(0.329) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
GUCY1A2 | SNV | Missense_Mutation | | c.2143N>T | p.Asp715Tyr | p.D715Y | P33402 | protein_coding | deleterious(0.01) | possibly_damaging(0.847) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |