GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0052548113 | Thyroid | PTC | regulation of endopeptidase activity | 174/5968 | 432/18723 | 1.20e-04 | 9.55e-04 | 174 |
GO:0010632111 | Thyroid | PTC | regulation of epithelial cell migration | 123/5968 | 292/18723 | 1.33e-04 | 1.05e-03 | 123 |
GO:19030256 | Thyroid | PTC | regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 11/5968 | 13/18723 | 1.34e-04 | 1.05e-03 | 11 |
GO:200004515 | Thyroid | PTC | regulation of G1/S transition of mitotic cell cycle | 66/5968 | 142/18723 | 1.86e-04 | 1.41e-03 | 66 |
GO:0048608111 | Thyroid | PTC | reproductive structure development | 170/5968 | 424/18723 | 1.86e-04 | 1.41e-03 | 170 |
GO:19028067 | Thyroid | PTC | regulation of cell cycle G1/S phase transition | 76/5968 | 168/18723 | 1.87e-04 | 1.41e-03 | 76 |
GO:0043154112 | Thyroid | PTC | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 40/5968 | 78/18723 | 2.83e-04 | 2.01e-03 | 40 |
GO:007123014 | Thyroid | PTC | cellular response to amino acid stimulus | 37/5968 | 71/18723 | 3.13e-04 | 2.17e-03 | 37 |
GO:2000117112 | Thyroid | PTC | negative regulation of cysteine-type endopeptidase activity | 43/5968 | 86/18723 | 3.49e-04 | 2.40e-03 | 43 |
GO:00301986 | Thyroid | PTC | extracellular matrix organization | 124/5968 | 301/18723 | 3.75e-04 | 2.53e-03 | 124 |
GO:00070405 | Thyroid | PTC | lysosome organization | 38/5968 | 74/18723 | 3.84e-04 | 2.58e-03 | 38 |
GO:00801715 | Thyroid | PTC | lytic vacuole organization | 38/5968 | 74/18723 | 3.84e-04 | 2.58e-03 | 38 |
GO:00032055 | Thyroid | PTC | cardiac chamber development | 72/5968 | 161/18723 | 4.13e-04 | 2.77e-03 | 72 |
GO:00430626 | Thyroid | PTC | extracellular structure organization | 124/5968 | 302/18723 | 4.38e-04 | 2.92e-03 | 124 |
GO:00322594 | Thyroid | PTC | methylation | 146/5968 | 364/18723 | 4.99e-04 | 3.26e-03 | 146 |
GO:00452296 | Thyroid | PTC | external encapsulating structure organization | 124/5968 | 304/18723 | 5.96e-04 | 3.79e-03 | 124 |
GO:00353075 | Thyroid | PTC | positive regulation of protein dephosphorylation | 25/5968 | 45/18723 | 8.54e-04 | 5.23e-03 | 25 |
GO:005109115 | Thyroid | PTC | positive regulation of DNA-binding transcription factor activity | 107/5968 | 260/18723 | 9.44e-04 | 5.70e-03 | 107 |
GO:20006774 | Thyroid | PTC | regulation of transcription regulatory region DNA binding | 27/5968 | 50/18723 | 9.69e-04 | 5.79e-03 | 27 |
GO:00319295 | Thyroid | PTC | TOR signaling | 57/5968 | 126/18723 | 1.12e-03 | 6.56e-03 | 57 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0120021 | Liver | Cirrhotic | Carbon metabolism | 64/2530 | 115/8465 | 6.37e-09 | 1.18e-07 | 7.26e-08 | 64 |
hsa006304 | Liver | Cirrhotic | Glyoxylate and dicarboxylate metabolism | 20/2530 | 30/8465 | 3.36e-05 | 2.54e-04 | 1.57e-04 | 20 |
hsa00260 | Liver | Cirrhotic | Glycine, serine and threonine metabolism | 22/2530 | 40/8465 | 7.85e-04 | 4.51e-03 | 2.78e-03 | 22 |
hsa0120031 | Liver | Cirrhotic | Carbon metabolism | 64/2530 | 115/8465 | 6.37e-09 | 1.18e-07 | 7.26e-08 | 64 |
hsa0063011 | Liver | Cirrhotic | Glyoxylate and dicarboxylate metabolism | 20/2530 | 30/8465 | 3.36e-05 | 2.54e-04 | 1.57e-04 | 20 |
hsa002601 | Liver | Cirrhotic | Glycine, serine and threonine metabolism | 22/2530 | 40/8465 | 7.85e-04 | 4.51e-03 | 2.78e-03 | 22 |
hsa0120041 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0063021 | Liver | HCC | Glyoxylate and dicarboxylate metabolism | 24/4020 | 30/8465 | 2.66e-04 | 1.24e-03 | 6.88e-04 | 24 |
hsa006702 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
hsa002602 | Liver | HCC | Glycine, serine and threonine metabolism | 28/4020 | 40/8465 | 3.28e-03 | 1.07e-02 | 5.93e-03 | 28 |
hsa0120051 | Liver | HCC | Carbon metabolism | 89/4020 | 115/8465 | 3.92e-11 | 6.56e-10 | 3.65e-10 | 89 |
hsa0063031 | Liver | HCC | Glyoxylate and dicarboxylate metabolism | 24/4020 | 30/8465 | 2.66e-04 | 1.24e-03 | 6.88e-04 | 24 |
hsa0067011 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
hsa002603 | Liver | HCC | Glycine, serine and threonine metabolism | 28/4020 | 40/8465 | 3.28e-03 | 1.07e-02 | 5.93e-03 | 28 |
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 |
AMT | insertion | In_Frame_Ins | novel | c.958_959insAGGTCCAGGGCTACA | p.Arg320delinsGlnValGlnGlyTyrSer | p.R320delinsQVQGYS | P48728 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
AMT | insertion | Frame_Shift_Ins | novel | c.1047_1048insAAGGAAGTAAATTTAAGATGGATATTTAA | p.Gly350LysfsTer17 | p.G350Kfs*17 | P48728 | protein_coding | | | TCGA-A8-A07G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
AMT | insertion | In_Frame_Ins | novel | c.1053_1054insACTTCCGTGTTTAAT | p.Cys351_Pro352insThrSerValPheAsn | p.C351_P352insTSVFN | P48728 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
AMT | SNV | Missense_Mutation | | c.468N>T | p.Met156Ile | p.M156I | P48728 | protein_coding | tolerated(0.76) | benign(0.103) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | rs749087037 | c.59N>T | p.Pro20Leu | p.P20L | P48728 | protein_coding | tolerated(0.4) | benign(0) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | | c.791T>A | p.Leu264Gln | p.L264Q | P48728 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CM-6166-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | rs372496075 | c.583N>A | p.Val195Met | p.V195M | P48728 | protein_coding | tolerated(0.06) | possibly_damaging(0.503) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | novel | c.901N>A | p.Asp301Asn | p.D301N | P48728 | protein_coding | tolerated(0.32) | benign(0.129) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | | c.587C>T | p.Ala196Val | p.A196V | P48728 | protein_coding | tolerated(0.2) | benign(0.041) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AMT | SNV | Missense_Mutation | novel | c.505N>T | p.Asp169Tyr | p.D169Y | P48728 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |