GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005114616 | Skin | SCCIS | striated muscle cell differentiation | 25/919 | 283/18723 | 3.38e-03 | 3.01e-02 | 25 |
GO:000701529 | Skin | cSCC | actin filament organization | 156/4864 | 442/18723 | 7.37e-06 | 1.02e-04 | 156 |
GO:006053718 | Thyroid | HT | muscle tissue development | 62/1272 | 403/18723 | 1.10e-09 | 1.20e-07 | 62 |
GO:001470610 | Thyroid | HT | striated muscle tissue development | 55/1272 | 384/18723 | 1.16e-07 | 6.59e-06 | 55 |
GO:00426929 | Thyroid | HT | muscle cell differentiation | 49/1272 | 384/18723 | 1.52e-05 | 3.78e-04 | 49 |
GO:00511469 | Thyroid | HT | striated muscle cell differentiation | 39/1272 | 283/18723 | 1.95e-05 | 4.58e-04 | 39 |
GO:000701530 | Thyroid | HT | actin filament organization | 50/1272 | 442/18723 | 2.71e-04 | 3.73e-03 | 50 |
GO:00487385 | Thyroid | HT | cardiac muscle tissue development | 31/1272 | 236/18723 | 3.19e-04 | 4.19e-03 | 31 |
GO:00550015 | Thyroid | HT | muscle cell development | 24/1272 | 184/18723 | 1.59e-03 | 1.47e-02 | 24 |
GO:00302391 | Thyroid | HT | myofibril assembly | 11/1272 | 63/18723 | 3.19e-03 | 2.54e-02 | 11 |
GO:00550063 | Thyroid | HT | cardiac cell development | 14/1272 | 91/18723 | 3.23e-03 | 2.55e-02 | 14 |
GO:00550021 | Thyroid | HT | striated muscle cell development | 11/1272 | 64/18723 | 3.62e-03 | 2.74e-02 | 11 |
GO:003103225 | Thyroid | HT | actomyosin structure organization | 24/1272 | 196/18723 | 3.67e-03 | 2.75e-02 | 24 |
GO:00350514 | Thyroid | HT | cardiocyte differentiation | 20/1272 | 156/18723 | 4.54e-03 | 3.23e-02 | 20 |
GO:0055013 | Thyroid | HT | cardiac muscle cell development | 13/1272 | 85/18723 | 4.69e-03 | 3.28e-02 | 13 |
GO:0007015112 | Thyroid | PTC | actin filament organization | 225/5968 | 442/18723 | 3.76e-17 | 3.44e-15 | 225 |
GO:0031032110 | Thyroid | PTC | actomyosin structure organization | 91/5968 | 196/18723 | 1.35e-05 | 1.45e-04 | 91 |
GO:006053719 | Thyroid | PTC | muscle tissue development | 156/5968 | 403/18723 | 1.98e-03 | 1.06e-02 | 156 |
GO:001470617 | Thyroid | PTC | striated muscle tissue development | 144/5968 | 384/18723 | 1.05e-02 | 4.22e-02 | 144 |
GO:0007015210 | Thyroid | ATC | actin filament organization | 227/6293 | 442/18723 | 5.96e-15 | 3.85e-13 | 227 |
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 |
NEB | SNV | Missense_Mutation | novel | c.8357N>A | p.Arg2786Lys | p.R2786K | | protein_coding | tolerated(0.07) | possibly_damaging(0.826) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
NEB | SNV | Missense_Mutation | novel | c.24651G>C | p.Gln8217His | p.Q8217H | | protein_coding | deleterious(0.01) | probably_damaging(0.917) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
NEB | SNV | Missense_Mutation | novel | c.16443T>G | p.Cys5481Trp | p.C5481W | | protein_coding | tolerated(0.06) | probably_damaging(0.938) | TCGA-A2-A04Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
NEB | SNV | Missense_Mutation | rs778455036 | c.21581N>A | p.Thr7194Asn | p.T7194N | | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NEB | SNV | Missense_Mutation | novel | c.21077N>A | p.Arg7026Gln | p.R7026Q | | protein_coding | tolerated(0.06) | benign(0.154) | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NEB | SNV | Missense_Mutation | novel | c.22572N>C | p.Lys7524Asn | p.K7524N | | protein_coding | tolerated(0.1) | possibly_damaging(0.696) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
NEB | SNV | Missense_Mutation | | c.11968N>C | p.Asp3990His | p.D3990H | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
NEB | SNV | Missense_Mutation | rs778455036 | c.21581N>A | p.Thr7194Asn | p.T7194N | | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-A2-A0T2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | PD |
NEB | SNV | Missense_Mutation | novel | c.11092N>T | p.Ala3698Ser | p.A3698S | | protein_coding | tolerated(0.06) | possibly_damaging(0.655) | TCGA-A2-A25C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
NEB | SNV | Missense_Mutation | novel | c.10363N>T | p.Ala3455Ser | p.A3455S | | protein_coding | tolerated(0.09) | probably_damaging(0.99) | TCGA-A2-A25C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |