GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
GO:005160418 | Esophagus | ESCC | protein maturation | 189/8552 | 294/18723 | 7.64e-11 | 2.39e-09 | 189 |
GO:2001020110 | Esophagus | ESCC | regulation of response to DNA damage stimulus | 145/8552 | 219/18723 | 5.97e-10 | 1.50e-08 | 145 |
GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
GO:20010228 | Esophagus | ESCC | positive regulation of response to DNA damage stimulus | 69/8552 | 105/18723 | 2.66e-05 | 2.22e-04 | 69 |
GO:00062826 | Esophagus | ESCC | regulation of DNA repair | 82/8552 | 130/18723 | 4.65e-05 | 3.66e-04 | 82 |
GO:00062891 | Esophagus | ESCC | nucleotide-excision repair | 42/8552 | 60/18723 | 1.18e-04 | 8.14e-04 | 42 |
GO:00457395 | Esophagus | ESCC | positive regulation of DNA repair | 49/8552 | 73/18723 | 1.74e-04 | 1.14e-03 | 49 |
GO:001622611 | Esophagus | ESCC | iron-sulfur cluster assembly | 21/8552 | 26/18723 | 2.69e-04 | 1.63e-03 | 21 |
GO:003116311 | Esophagus | ESCC | metallo-sulfur cluster assembly | 21/8552 | 26/18723 | 2.69e-04 | 1.63e-03 | 21 |
GO:00063101 | Esophagus | ESCC | DNA recombination | 168/8552 | 305/18723 | 5.58e-04 | 3.05e-03 | 168 |
GO:009742811 | Esophagus | ESCC | protein maturation by iron-sulfur cluster transfer | 14/8552 | 16/18723 | 6.78e-04 | 3.56e-03 | 14 |
GO:20007793 | Esophagus | ESCC | regulation of double-strand break repair | 52/8552 | 85/18723 | 2.86e-03 | 1.21e-02 | 52 |
GO:00007241 | Esophagus | ESCC | double-strand break repair via homologous recombination | 79/8552 | 138/18723 | 4.05e-03 | 1.62e-02 | 79 |
GO:00007251 | Esophagus | ESCC | recombinational repair | 80/8552 | 140/18723 | 4.10e-03 | 1.63e-02 | 80 |
GO:20007813 | Esophagus | ESCC | positive regulation of double-strand break repair | 26/8552 | 40/18723 | 1.08e-02 | 3.66e-02 | 26 |
GO:000679021 | Liver | HCC | sulfur compound metabolic process | 212/7958 | 339/18723 | 5.60e-14 | 3.39e-12 | 212 |
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 |
MMS19 | SNV | Missense_Mutation | | c.2980N>G | p.Pro994Ala | p.P994A | Q96T76 | protein_coding | tolerated(1) | benign(0) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
MMS19 | SNV | Missense_Mutation | rs756307565 | c.2575N>A | p.Glu859Lys | p.E859K | Q96T76 | protein_coding | tolerated(0.16) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MMS19 | SNV | Missense_Mutation | novel | c.781N>T | p.Pro261Ser | p.P261S | Q96T76 | protein_coding | deleterious(0.04) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MMS19 | SNV | Missense_Mutation | | c.2399N>T | p.Thr800Ile | p.T800I | Q96T76 | protein_coding | deleterious(0.02) | benign(0.131) | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
MMS19 | insertion | Frame_Shift_Ins | novel | c.209_210insT | p.Gln70HisfsTer27 | p.Q70Hfs*27 | Q96T76 | protein_coding | | | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MMS19 | insertion | Nonsense_Mutation | novel | c.208_209insCCTTGACATAACTGGG | p.Gln70ProfsTer4 | p.Q70Pfs*4 | Q96T76 | protein_coding | | | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MMS19 | SNV | Missense_Mutation | novel | c.2401N>G | p.Leu801Val | p.L801V | Q96T76 | protein_coding | tolerated(0.07) | benign(0.119) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
MMS19 | SNV | Missense_Mutation | | c.952N>A | p.Glu318Lys | p.E318K | Q96T76 | protein_coding | deleterious(0) | probably_damaging(0.954) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
MMS19 | SNV | Missense_Mutation | | c.1988N>T | p.Thr663Ile | p.T663I | Q96T76 | protein_coding | tolerated(0.08) | possibly_damaging(0.572) | TCGA-AA-3688-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
MMS19 | SNV | Missense_Mutation | novel | c.2391G>T | p.Gln797His | p.Q797H | Q96T76 | protein_coding | deleterious(0) | benign(0.219) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |