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 | novel | c.3799N>A | p.Asp1267Asn | p.D1267N | | protein_coding | tolerated(0.07) | benign(0.062) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | | c.740N>A | p.Ala247Glu | p.A247E | | protein_coding | deleterious(0.01) | probably_damaging(0.951) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | | c.9137G>A | p.Gly3046Asp | p.G3046D | | protein_coding | deleterious(0) | benign(0.188) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | rs374773802 | c.8828G>A | p.Arg2943His | p.R2943H | | protein_coding | tolerated(0.12) | possibly_damaging(0.759) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | rs749345233 | c.8687C>T | p.Thr2896Met | p.T2896M | | protein_coding | deleterious(0.01) | possibly_damaging(0.817) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | rs529988284 | c.8054C>T | p.Pro2685Leu | p.P2685L | | protein_coding | tolerated(0.22) | possibly_damaging(0.689) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | rs751051632 | c.5467G>A | p.Gly1823Arg | p.G1823R | | protein_coding | tolerated(0.23) | benign(0.33) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | | c.2123G>A | p.Arg708His | p.R708H | | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | novel | c.1151C>A | p.Ser384Tyr | p.S384Y | | protein_coding | deleterious(0) | possibly_damaging(0.629) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CSMD1 | SNV | Missense_Mutation | novel | c.1037C>T | p.Ser346Phe | p.S346F | | protein_coding | tolerated(0.45) | possibly_damaging(0.653) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |