GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005164810 | Esophagus | HGIN | vesicle localization | 37/2587 | 177/18723 | 6.03e-03 | 4.87e-02 | 37 |
GO:00086544 | Esophagus | ESCC | phospholipid biosynthetic process | 162/8552 | 253/18723 | 2.59e-09 | 5.73e-08 | 162 |
GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
GO:00464744 | Esophagus | ESCC | glycerophospholipid biosynthetic process | 135/8552 | 211/18723 | 5.75e-08 | 1.02e-06 | 135 |
GO:00450175 | Esophagus | ESCC | glycerolipid biosynthetic process | 154/8552 | 252/18723 | 5.20e-07 | 6.96e-06 | 154 |
GO:00066446 | Esophagus | ESCC | phospholipid metabolic process | 218/8552 | 383/18723 | 5.37e-06 | 5.59e-05 | 218 |
GO:00066505 | Esophagus | ESCC | glycerophospholipid metabolic process | 174/8552 | 306/18723 | 4.92e-05 | 3.85e-04 | 174 |
GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
GO:005164811 | Liver | Cirrhotic | vesicle localization | 62/4634 | 177/18723 | 1.37e-03 | 9.18e-03 | 62 |
GO:005164821 | Liver | HCC | vesicle localization | 107/7958 | 177/18723 | 1.05e-06 | 1.57e-05 | 107 |
GO:00516489 | Oral cavity | OSCC | vesicle localization | 105/7305 | 177/18723 | 3.30e-08 | 6.30e-07 | 105 |
GO:00086543 | Oral cavity | OSCC | phospholipid biosynthetic process | 130/7305 | 253/18723 | 3.96e-05 | 3.46e-04 | 130 |
GO:00464743 | Oral cavity | OSCC | glycerophospholipid biosynthetic process | 102/7305 | 211/18723 | 3.50e-03 | 1.48e-02 | 102 |
GO:00066445 | Oral cavity | OSCC | phospholipid metabolic process | 175/7305 | 383/18723 | 4.21e-03 | 1.71e-02 | 175 |
GO:005164814 | Oral cavity | LP | vesicle localization | 66/4623 | 177/18723 | 1.25e-04 | 1.46e-03 | 66 |
GO:005164816 | Skin | cSCC | vesicle localization | 73/4864 | 177/18723 | 6.36e-06 | 8.92e-05 | 73 |
GO:005164817 | Thyroid | PTC | vesicle localization | 94/5968 | 177/18723 | 3.54e-09 | 9.45e-08 | 94 |
GO:005164818 | Thyroid | ATC | vesicle localization | 91/6293 | 177/18723 | 7.21e-07 | 9.64e-06 | 91 |
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 |
PGS1 | SNV | Missense_Mutation | rs773644712 | c.509N>A | p.Arg170Gln | p.R170Q | Q32NB8 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PGS1 | SNV | Missense_Mutation | novel | c.602G>A | p.Arg201His | p.R201H | Q32NB8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
PGS1 | SNV | Missense_Mutation | novel | c.527G>T | p.Arg176Leu | p.R176L | Q32NB8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PGS1 | SNV | Missense_Mutation | novel | c.391N>T | p.Gly131Cys | p.G131C | Q32NB8 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PGS1 | insertion | Frame_Shift_Ins | novel | c.1231dupG | p.Ala411GlyfsTer32 | p.A411Gfs*32 | Q32NB8 | protein_coding | | | TCGA-AP-A0LH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | PD |
PGS1 | insertion | Frame_Shift_Ins | novel | c.720_721insGCCTCAAGGAG | p.Tyr241AlafsTer74 | p.Y241Afs*74 | Q32NB8 | protein_coding | | | TCGA-AX-A05Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
PGS1 | insertion | In_Frame_Ins | novel | c.491_492insGATCACTGCTTTCTCTTGGGTCTCCTGGGATTG | p.Asp164delinsGluIleThrAlaPheSerTrpValSerTrpAspCys | p.D164delinsEITAFSWVSWDC | Q32NB8 | protein_coding | | | TCGA-AX-A062-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PGS1 | SNV | Missense_Mutation | novel | c.1172N>C | p.Leu391Pro | p.L391P | Q32NB8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-ZP-A9D1-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PGS1 | deletion | Frame_Shift_Del | novel | c.585delT | p.His196ThrfsTer37 | p.H196Tfs*37 | Q32NB8 | protein_coding | | | TCGA-DD-A4NH-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | III/IV | Targeted Molecular therapy | sorafenib | PD |
PGS1 | SNV | Missense_Mutation | rs117326474 | c.1420N>T | p.Ala474Ser | p.A474S | Q32NB8 | protein_coding | tolerated(0.16) | benign(0.009) | TCGA-55-8089-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |