GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005160412 | Liver | HCC | protein maturation | 171/7958 | 294/18723 | 3.80e-08 | 8.30e-07 | 171 |
GO:001648511 | Liver | HCC | protein processing | 121/7958 | 225/18723 | 4.01e-04 | 2.71e-03 | 121 |
GO:00063021 | Liver | HCC | double-strand break repair | 131/7958 | 251/18723 | 1.17e-03 | 6.54e-03 | 131 |
GO:0070071 | Liver | HCC | proton-transporting two-sector ATPase complex assembly | 12/7958 | 15/18723 | 3.56e-03 | 1.59e-02 | 12 |
GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
GO:00164859 | Thyroid | PTC | protein processing | 95/5968 | 225/18723 | 6.60e-04 | 4.15e-03 | 95 |
GO:00349822 | Thyroid | PTC | mitochondrial protein processing | 10/5968 | 13/18723 | 1.11e-03 | 6.51e-03 | 10 |
GO:00700712 | Thyroid | PTC | proton-transporting two-sector ATPase complex assembly | 11/5968 | 15/18723 | 1.19e-03 | 6.84e-03 | 11 |
GO:00063026 | Thyroid | PTC | double-strand break repair | 103/5968 | 251/18723 | 1.30e-03 | 7.40e-03 | 103 |
GO:00063032 | Thyroid | PTC | double-strand break repair via nonhomologous end joining | 32/5968 | 66/18723 | 3.55e-03 | 1.71e-02 | 32 |
GO:0051604110 | Thyroid | ATC | protein maturation | 136/6293 | 294/18723 | 4.00e-06 | 4.42e-05 | 136 |
GO:001648515 | Thyroid | ATC | protein processing | 100/6293 | 225/18723 | 4.39e-04 | 2.62e-03 | 100 |
GO:000630212 | Thyroid | ATC | double-strand break repair | 110/6293 | 251/18723 | 4.48e-04 | 2.65e-03 | 110 |
GO:00349821 | Thyroid | ATC | mitochondrial protein processing | 10/6293 | 13/18723 | 1.77e-03 | 8.71e-03 | 10 |
GO:007007111 | Thyroid | ATC | proton-transporting two-sector ATPase complex assembly | 11/6293 | 15/18723 | 1.94e-03 | 9.41e-03 | 11 |
GO:00063031 | Thyroid | ATC | double-strand break repair via nonhomologous end joining | 33/6293 | 66/18723 | 4.27e-03 | 1.80e-02 | 33 |
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 |
ATP23 | SNV | Missense_Mutation | novel | c.488N>C | p.Leu163Pro | p.L163P | Q9Y6H3 | protein_coding | deleterious(0.01) | possibly_damaging(0.853) | TCGA-AP-A1DH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP23 | SNV | Missense_Mutation | novel | c.259N>C | p.Ser87Pro | p.S87P | Q9Y6H3 | protein_coding | deleterious(0.01) | possibly_damaging(0.856) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP23 | SNV | Missense_Mutation | | c.265N>A | p.Glu89Lys | p.E89K | Q9Y6H3 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP23 | SNV | Missense_Mutation | rs760875092 | c.458N>A | p.Arg153Gln | p.R153Q | Q9Y6H3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATP23 | SNV | Missense_Mutation | novel | c.544G>T | p.Val182Leu | p.V182L | Q9Y6H3 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-95-7567-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | SD |
ATP23 | SNV | Missense_Mutation | | c.517N>C | p.Gly173Arg | p.G173R | Q9Y6H3 | protein_coding | tolerated(0.06) | probably_damaging(0.913) | TCGA-43-6143-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Other, specify in notesVaccine | recmage3-as+as15 | SD |
ATP23 | SNV | Missense_Mutation | novel | c.700A>G | p.Arg234Gly | p.R234G | Q9Y6H3 | protein_coding | deleterious(0) | benign(0.122) | TCGA-60-2696-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP23 | insertion | Frame_Shift_Ins | novel | c.537_537+1insACTT | p.Cys181TyrfsTer15 | p.C181Yfs*15 | Q9Y6H3 | protein_coding | | | TCGA-39-5037-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | SD |
ATP23 | SNV | Missense_Mutation | | c.715C>T | p.Arg239Cys | p.R239C | Q9Y6H3 | protein_coding | tolerated_low_confidence(0.05) | possibly_damaging(0.886) | TCGA-CG-5721-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
ATP23 | SNV | Missense_Mutation | novel | c.538N>G | p.Thr180Ala | p.T180A | Q9Y6H3 | protein_coding | tolerated(0.25) | benign(0.012) | TCGA-VQ-A8P5-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Chemotherapy | fluorouracil | SD |