GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00485688 | Thyroid | ATC | embryonic organ development | 172/6293 | 427/18723 | 2.08e-03 | 9.84e-03 | 172 |
GO:00351074 | Thyroid | ATC | appendage morphogenesis | 63/6293 | 138/18723 | 2.13e-03 | 1.00e-02 | 63 |
GO:00351084 | Thyroid | ATC | limb morphogenesis | 63/6293 | 138/18723 | 2.13e-03 | 1.00e-02 | 63 |
GO:0008589 | Thyroid | ATC | regulation of smoothened signaling pathway | 40/6293 | 81/18723 | 2.36e-03 | 1.10e-02 | 40 |
GO:00487368 | Thyroid | ATC | appendage development | 76/6293 | 172/18723 | 2.41e-03 | 1.12e-02 | 76 |
GO:00601738 | Thyroid | ATC | limb development | 76/6293 | 172/18723 | 2.41e-03 | 1.12e-02 | 76 |
GO:003087917 | Thyroid | ATC | mammary gland development | 62/6293 | 137/18723 | 2.96e-03 | 1.34e-02 | 62 |
GO:00062756 | Thyroid | ATC | regulation of DNA replication | 50/6293 | 107/18723 | 3.25e-03 | 1.46e-02 | 50 |
GO:002195513 | Thyroid | ATC | central nervous system neuron axonogenesis | 20/6293 | 35/18723 | 3.56e-03 | 1.57e-02 | 20 |
GO:00074113 | Thyroid | ATC | axon guidance | 96/6293 | 227/18723 | 3.74e-03 | 1.63e-02 | 96 |
GO:1903706112 | Thyroid | ATC | regulation of hemopoiesis | 148/6293 | 367/18723 | 3.87e-03 | 1.68e-02 | 148 |
GO:00457408 | Thyroid | ATC | positive regulation of DNA replication | 22/6293 | 40/18723 | 4.32e-03 | 1.80e-02 | 22 |
GO:00974853 | Thyroid | ATC | neuron projection guidance | 96/6293 | 228/18723 | 4.36e-03 | 1.81e-02 | 96 |
GO:00512163 | Thyroid | ATC | cartilage development | 81/6293 | 190/18723 | 5.70e-03 | 2.30e-02 | 81 |
GO:00303262 | Thyroid | ATC | embryonic limb morphogenesis | 52/6293 | 116/18723 | 7.67e-03 | 3.00e-02 | 52 |
GO:00351132 | Thyroid | ATC | embryonic appendage morphogenesis | 52/6293 | 116/18723 | 7.67e-03 | 3.00e-02 | 52 |
GO:0007224 | Thyroid | ATC | smoothened signaling pathway | 60/6293 | 138/18723 | 9.75e-03 | 3.57e-02 | 60 |
GO:00611809 | Thyroid | ATC | mammary gland epithelium development | 32/6293 | 67/18723 | 1.13e-02 | 4.04e-02 | 32 |
GO:00987734 | Thyroid | ATC | skin epidermis development | 39/6293 | 85/18723 | 1.24e-02 | 4.38e-02 | 39 |
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 |
GLI2 | SNV | Missense_Mutation | rs199931941 | c.1108N>A | p.Ala370Thr | p.A370T | P10070 | protein_coding | tolerated(0.47) | benign(0) | TCGA-A2-A1FW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
GLI2 | SNV | Missense_Mutation | | c.252N>G | p.His84Gln | p.H84Q | P10070 | protein_coding | deleterious(0.01) | possibly_damaging(0.862) | TCGA-A2-A25E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD |
GLI2 | SNV | Missense_Mutation | rs753561308 | c.4160N>A | p.Arg1387His | p.R1387H | P10070 | protein_coding | tolerated_low_confidence(0.11) | benign(0.003) | TCGA-A8-A079-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
GLI2 | SNV | Missense_Mutation | | c.780N>G | p.Ile260Met | p.I260M | P10070 | protein_coding | deleterious(0.02) | probably_damaging(0.993) | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI2 | SNV | Missense_Mutation | novel | c.3765N>A | p.Ser1255Arg | p.S1255R | P10070 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.526) | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI2 | SNV | Missense_Mutation | | c.1529N>A | p.Cys510Tyr | p.C510Y | P10070 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI2 | SNV | Missense_Mutation | rs755563767 | c.4537N>A | p.Asp1513Asn | p.D1513N | P10070 | protein_coding | deleterious(0.01) | probably_damaging(0.967) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GLI2 | SNV | Missense_Mutation | rs150858529 | c.2084N>T | p.Thr695Met | p.T695M | P10070 | protein_coding | deleterious(0) | possibly_damaging(0.732) | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
GLI2 | SNV | Missense_Mutation | novel | c.4717N>C | p.Thr1573Pro | p.T1573P | P10070 | protein_coding | deleterious(0) | possibly_damaging(0.621) | TCGA-BH-A202-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
GLI2 | SNV | Missense_Mutation | novel | c.270C>G | p.Ser90Arg | p.S90R | P10070 | protein_coding | deleterious(0.01) | probably_damaging(0.986) | TCGA-EW-A3U0-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |