GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00457652 | Breast | DCIS | regulation of angiogenesis | 44/1390 | 342/18723 | 2.50e-04 | 3.87e-03 | 44 |
GO:001083323 | Breast | DCIS | telomere maintenance via telomere lengthening | 16/1390 | 81/18723 | 2.61e-04 | 4.01e-03 | 16 |
GO:001004321 | Breast | DCIS | response to zinc ion | 13/1390 | 58/18723 | 2.65e-04 | 4.03e-03 | 13 |
GO:003003824 | Breast | DCIS | contractile actin filament bundle assembly | 19/1390 | 106/18723 | 2.74e-04 | 4.09e-03 | 19 |
GO:004314924 | Breast | DCIS | stress fiber assembly | 19/1390 | 106/18723 | 2.74e-04 | 4.09e-03 | 19 |
GO:005122223 | Breast | DCIS | positive regulation of protein transport | 40/1390 | 303/18723 | 2.76e-04 | 4.10e-03 | 40 |
GO:003052122 | Breast | DCIS | androgen receptor signaling pathway | 11/1390 | 44/18723 | 2.83e-04 | 4.19e-03 | 11 |
GO:190320122 | Breast | DCIS | regulation of oxidative stress-induced cell death | 15/1390 | 74/18723 | 3.00e-04 | 4.36e-03 | 15 |
GO:190382924 | Breast | DCIS | positive regulation of cellular protein localization | 37/1390 | 276/18723 | 3.40e-04 | 4.87e-03 | 37 |
GO:005149621 | Breast | DCIS | positive regulation of stress fiber assembly | 12/1390 | 52/18723 | 3.40e-04 | 4.87e-03 | 12 |
GO:006157224 | Breast | DCIS | actin filament bundle organization | 25/1390 | 161/18723 | 3.43e-04 | 4.90e-03 | 25 |
GO:004593614 | Breast | DCIS | negative regulation of phosphate metabolic process | 53/1390 | 441/18723 | 3.48e-04 | 4.96e-03 | 53 |
GO:19013422 | Breast | DCIS | regulation of vasculature development | 44/1390 | 348/18723 | 3.67e-04 | 5.17e-03 | 44 |
GO:001056314 | Breast | DCIS | negative regulation of phosphorus metabolic process | 53/1390 | 442/18723 | 3.68e-04 | 5.18e-03 | 53 |
GO:011002024 | Breast | DCIS | regulation of actomyosin structure organization | 18/1390 | 100/18723 | 3.72e-04 | 5.21e-03 | 18 |
GO:011005324 | Breast | DCIS | regulation of actin filament organization | 37/1390 | 278/18723 | 3.91e-04 | 5.40e-03 | 37 |
GO:000164921 | Breast | DCIS | osteoblast differentiation | 32/1390 | 229/18723 | 4.00e-04 | 5.48e-03 | 32 |
GO:190210521 | Breast | DCIS | regulation of leukocyte differentiation | 37/1390 | 279/18723 | 4.19e-04 | 5.65e-03 | 37 |
GO:190435622 | Breast | DCIS | regulation of telomere maintenance via telomere lengthening | 13/1390 | 61/18723 | 4.48e-04 | 5.98e-03 | 13 |
GO:19031312 | Breast | DCIS | mononuclear cell differentiation | 51/1390 | 426/18723 | 4.88e-04 | 6.40e-03 | 51 |
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 |
RP1 | SNV | Missense_Mutation | novel | c.81G>C | p.Leu27Phe | p.L27F | P56715 | protein_coding | tolerated(0.65) | benign(0.007) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
RP1 | SNV | Missense_Mutation | rs747714373 | c.2978C>G | p.Ser993Cys | p.S993C | P56715 | protein_coding | deleterious(0.02) | possibly_damaging(0.781) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RP1 | SNV | Missense_Mutation | | c.4362C>A | p.Ser1454Arg | p.S1454R | P56715 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
RP1 | SNV | Missense_Mutation | novel | c.1138N>T | p.Pro380Ser | p.P380S | | protein_coding | deleterious(0.04) | probably_damaging(0.923) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | novel | c.983N>G | p.Lys328Arg | p.K328R | | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | | c.2516N>C | p.Gln839Pro | p.Q839P | P56715 | protein_coding | deleterious(0.03) | possibly_damaging(0.641) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RP1 | SNV | Missense_Mutation | novel | c.4466C>T | p.Ala1489Val | p.A1489V | P56715 | protein_coding | tolerated(0.22) | benign(0.01) | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR |
RP1 | SNV | Missense_Mutation | | c.2675N>T | p.Ala892Val | p.A892V | P56715 | protein_coding | tolerated(0.14) | benign(0.039) | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RP1 | SNV | Missense_Mutation | | c.1895N>T | p.Ser632Leu | p.S632L | P56715 | protein_coding | tolerated(0.2) | benign(0.042) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RP1 | SNV | Missense_Mutation | | c.4027N>A | p.Asp1343Asn | p.D1343N | P56715 | protein_coding | tolerated(0.07) | benign(0) | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |