GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00307056 | Lung | IAC | cytoskeleton-dependent intracellular transport | 40/2061 | 195/18723 | 7.30e-05 | 1.54e-03 | 40 |
GO:00315032 | Lung | IAC | protein-containing complex localization | 42/2061 | 220/18723 | 2.60e-04 | 4.32e-03 | 42 |
GO:0099111 | Lung | IAC | microtubule-based transport | 35/2061 | 190/18723 | 1.55e-03 | 1.64e-02 | 35 |
GO:0060271 | Lung | IAC | cilium assembly | 55/2061 | 337/18723 | 1.84e-03 | 1.88e-02 | 55 |
GO:0044782 | Lung | IAC | cilium organization | 58/2061 | 368/18723 | 3.15e-03 | 2.75e-02 | 58 |
GO:00109704 | Lung | IAC | transport along microtubule | 28/2061 | 155/18723 | 5.72e-03 | 4.18e-02 | 28 |
GO:00602711 | Lung | MIAC | cilium assembly | 37/967 | 337/18723 | 1.29e-05 | 9.85e-04 | 37 |
GO:00447821 | Lung | MIAC | cilium organization | 38/967 | 368/18723 | 3.93e-05 | 2.08e-03 | 38 |
GO:003070522 | Lung | MIAC | cytoskeleton-dependent intracellular transport | 20/967 | 195/18723 | 2.72e-03 | 3.75e-02 | 20 |
GO:0007163111 | Thyroid | PTC | establishment or maintenance of cell polarity | 115/5968 | 218/18723 | 1.15e-10 | 3.90e-09 | 115 |
GO:0001701111 | Thyroid | PTC | in utero embryonic development | 175/5968 | 367/18723 | 1.40e-10 | 4.73e-09 | 175 |
GO:0030705111 | Thyroid | PTC | cytoskeleton-dependent intracellular transport | 104/5968 | 195/18723 | 3.87e-10 | 1.24e-08 | 104 |
GO:0048732113 | Thyroid | PTC | gland development | 193/5968 | 436/18723 | 2.88e-08 | 6.42e-07 | 193 |
GO:0001889112 | Thyroid | PTC | liver development | 79/5968 | 147/18723 | 3.08e-08 | 6.82e-07 | 79 |
GO:0061008112 | Thyroid | PTC | hepaticobiliary system development | 80/5968 | 150/18723 | 3.94e-08 | 8.55e-07 | 80 |
GO:00315037 | Thyroid | PTC | protein-containing complex localization | 107/5968 | 220/18723 | 1.47e-07 | 2.82e-06 | 107 |
GO:00109709 | Thyroid | PTC | transport along microtubule | 80/5968 | 155/18723 | 2.48e-07 | 4.32e-06 | 80 |
GO:000182215 | Thyroid | PTC | kidney development | 133/5968 | 293/18723 | 7.57e-07 | 1.18e-05 | 133 |
GO:000165517 | Thyroid | PTC | urogenital system development | 149/5968 | 338/18723 | 1.41e-06 | 2.01e-05 | 149 |
GO:007200114 | Thyroid | PTC | renal system development | 135/5968 | 302/18723 | 1.76e-06 | 2.43e-05 | 135 |
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 |
RPGR | SNV | Missense_Mutation | novel | c.580T>C | p.Trp194Arg | p.W194R | Q92834 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.766) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPGR | SNV | Missense_Mutation | | c.3058N>A | p.Glu1020Lys | p.E1020K | Q92834 | protein_coding | deleterious_low_confidence(0.02) | benign(0.001) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPGR | SNV | Missense_Mutation | novel | c.3380N>C | p.Lys1127Thr | p.K1127T | Q92834 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.949) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPGR | SNV | Missense_Mutation | novel | c.2065C>T | p.Pro689Ser | p.P689S | Q92834 | protein_coding | tolerated_low_confidence(0.09) | benign(0) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RPGR | SNV | Missense_Mutation | rs753418463 | c.1346N>A | p.Arg449Gln | p.R449Q | Q92834 | protein_coding | tolerated_low_confidence(0.13) | benign(0.067) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
RPGR | SNV | Missense_Mutation | | c.582N>T | p.Trp194Cys | p.W194C | Q92834 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.659) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
RPGR | SNV | Missense_Mutation | novel | c.3068N>T | p.Gly1023Val | p.G1023V | Q92834 | protein_coding | deleterious_low_confidence(0) | benign(0.05) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPGR | SNV | Missense_Mutation | novel | c.780N>T | p.Glu260Asp | p.E260D | Q92834 | protein_coding | tolerated_low_confidence(0.06) | possibly_damaging(0.679) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RPGR | SNV | Missense_Mutation | novel | c.3160G>A | p.Glu1054Lys | p.E1054K | Q92834 | protein_coding | tolerated_low_confidence(0.07) | benign(0.005) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RPGR | SNV | Missense_Mutation | novel | c.1301C>T | p.Thr434Ile | p.T434I | Q92834 | protein_coding | deleterious_low_confidence(0.02) | benign(0.092) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |