GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0048732 | Colorectum | AD | gland development | 149/3918 | 436/18723 | 6.07e-11 | 6.33e-09 | 149 |
GO:0030879 | Colorectum | AD | mammary gland development | 53/3918 | 137/18723 | 1.46e-06 | 4.58e-05 | 53 |
GO:0033500 | Colorectum | AD | carbohydrate homeostasis | 84/3918 | 259/18723 | 9.10e-06 | 2.15e-04 | 84 |
GO:0042593 | Colorectum | AD | glucose homeostasis | 83/3918 | 258/18723 | 1.44e-05 | 3.11e-04 | 83 |
GO:0061180 | Colorectum | AD | mammary gland epithelium development | 28/3918 | 67/18723 | 8.74e-05 | 1.35e-03 | 28 |
GO:0022612 | Colorectum | AD | gland morphogenesis | 42/3918 | 118/18723 | 1.62e-04 | 2.23e-03 | 42 |
GO:0060562 | Colorectum | AD | epithelial tube morphogenesis | 93/3918 | 325/18723 | 5.65e-04 | 6.00e-03 | 93 |
GO:0061458 | Colorectum | AD | reproductive system development | 116/3918 | 427/18723 | 1.11e-03 | 1.01e-02 | 116 |
GO:0060443 | Colorectum | AD | mammary gland morphogenesis | 18/3918 | 43/18723 | 1.51e-03 | 1.27e-02 | 18 |
GO:0048608 | Colorectum | AD | reproductive structure development | 114/3918 | 424/18723 | 1.78e-03 | 1.47e-02 | 114 |
GO:0001763 | Colorectum | AD | morphogenesis of a branching structure | 56/3918 | 196/18723 | 6.60e-03 | 4.09e-02 | 56 |
GO:00487322 | Colorectum | MSS | gland development | 143/3467 | 436/18723 | 3.85e-13 | 8.01e-11 | 143 |
GO:00308792 | Colorectum | MSS | mammary gland development | 51/3467 | 137/18723 | 1.88e-07 | 8.26e-06 | 51 |
GO:00611802 | Colorectum | MSS | mammary gland epithelium development | 28/3467 | 67/18723 | 8.47e-06 | 2.11e-04 | 28 |
GO:00614582 | Colorectum | MSS | reproductive system development | 115/3467 | 427/18723 | 9.86e-06 | 2.39e-04 | 115 |
GO:00335002 | Colorectum | MSS | carbohydrate homeostasis | 76/3467 | 259/18723 | 1.37e-05 | 3.14e-04 | 76 |
GO:00486082 | Colorectum | MSS | reproductive structure development | 113/3467 | 424/18723 | 1.94e-05 | 4.18e-04 | 113 |
GO:00226122 | Colorectum | MSS | gland morphogenesis | 41/3467 | 118/18723 | 2.02e-05 | 4.30e-04 | 41 |
GO:00425932 | Colorectum | MSS | glucose homeostasis | 75/3467 | 258/18723 | 2.22e-05 | 4.69e-04 | 75 |
GO:00605621 | Colorectum | MSS | epithelial tube morphogenesis | 88/3467 | 325/18723 | 8.45e-05 | 1.37e-03 | 88 |
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 |
CSMD1 | SNV | Missense_Mutation | | c.5548N>A | p.Glu1850Lys | p.E1850K | | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CSMD1 | SNV | Missense_Mutation | novel | c.1369T>G | p.Phe457Val | p.F457V | | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
CSMD1 | SNV | Missense_Mutation | | c.1733C>A | p.Pro578His | p.P578H | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
CSMD1 | SNV | Missense_Mutation | | c.8060T>A | p.Val2687Glu | p.V2687E | | protein_coding | deleterious(0) | possibly_damaging(0.731) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
CSMD1 | SNV | Missense_Mutation | rs371336619 | c.5431N>C | p.Gly1811Arg | p.G1811R | | protein_coding | deleterious(0.01) | probably_damaging(0.975) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
CSMD1 | SNV | Missense_Mutation | | c.6422G>A | p.Arg2141Lys | p.R2141K | | protein_coding | tolerated(0.11) | benign(0.003) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
CSMD1 | SNV | Missense_Mutation | rs768149539 | c.9419N>A | p.Arg3140His | p.R3140H | | protein_coding | tolerated(0.05) | benign(0) | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | | c.690N>A | p.Asn230Lys | p.N230K | | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
CSMD1 | SNV | Missense_Mutation | novel | c.9170N>C | p.Lys3057Thr | p.K3057T | | protein_coding | tolerated(0.15) | benign(0.036) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | novel | c.7374N>G | p.Phe2458Leu | p.F2458L | | protein_coding | tolerated(0.5) | benign(0.036) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |