GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003526414 | Thyroid | ATC | multicellular organism growth | 61/6293 | 132/18723 | 1.73e-03 | 8.66e-03 | 61 |
GO:005114617 | Thyroid | ATC | striated muscle cell differentiation | 119/6293 | 283/18723 | 1.74e-03 | 8.70e-03 | 119 |
GO:190302513 | Thyroid | ATC | regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 10/6293 | 13/18723 | 1.77e-03 | 8.71e-03 | 10 |
GO:00457657 | Thyroid | ATC | regulation of angiogenesis | 141/6293 | 342/18723 | 1.80e-03 | 8.85e-03 | 141 |
GO:19013427 | Thyroid | ATC | regulation of vasculature development | 143/6293 | 348/18723 | 1.95e-03 | 9.44e-03 | 143 |
GO:00608401 | Thyroid | ATC | artery development | 48/6293 | 100/18723 | 1.97e-03 | 9.52e-03 | 48 |
GO:005127117 | Thyroid | ATC | negative regulation of cellular component movement | 150/6293 | 367/18723 | 1.99e-03 | 9.54e-03 | 150 |
GO:200014617 | Thyroid | ATC | negative regulation of cell motility | 147/6293 | 359/18723 | 2.01e-03 | 9.60e-03 | 147 |
GO:004865916 | Thyroid | ATC | smooth muscle cell proliferation | 81/6293 | 184/18723 | 2.02e-03 | 9.60e-03 | 81 |
GO:004863815 | Thyroid | ATC | regulation of developmental growth | 136/6293 | 330/18723 | 2.17e-03 | 1.02e-02 | 136 |
GO:00451374 | Thyroid | ATC | development of primary sexual characteristics | 97/6293 | 227/18723 | 2.47e-03 | 1.14e-02 | 97 |
GO:000657522 | Thyroid | ATC | cellular modified amino acid metabolic process | 82/6293 | 188/18723 | 2.60e-03 | 1.20e-02 | 82 |
GO:003225911 | Thyroid | ATC | methylation | 148/6293 | 364/18723 | 2.69e-03 | 1.23e-02 | 148 |
GO:004239822 | Thyroid | ATC | cellular modified amino acid biosynthetic process | 25/6293 | 46/18723 | 3.00e-03 | 1.36e-02 | 25 |
GO:0035904 | Thyroid | ATC | aorta development | 30/6293 | 58/18723 | 3.31e-03 | 1.48e-02 | 30 |
GO:00508483 | Thyroid | ATC | regulation of calcium-mediated signaling | 36/6293 | 73/18723 | 3.91e-03 | 1.70e-02 | 36 |
GO:004866016 | Thyroid | ATC | regulation of smooth muscle cell proliferation | 78/6293 | 180/18723 | 4.00e-03 | 1.73e-02 | 78 |
GO:00031598 | Thyroid | ATC | morphogenesis of an endothelium | 13/6293 | 20/18723 | 4.03e-03 | 1.73e-02 | 13 |
GO:00611548 | Thyroid | ATC | endothelial tube morphogenesis | 13/6293 | 20/18723 | 4.03e-03 | 1.73e-02 | 13 |
GO:00717726 | Thyroid | ATC | response to BMP | 72/6293 | 165/18723 | 4.50e-03 | 1.86e-02 | 72 |
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 |