GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0001503110 | Thyroid | PTC | ossification | 176/5968 | 408/18723 | 9.26e-07 | 1.40e-05 | 176 |
GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
GO:00603486 | Thyroid | PTC | bone development | 90/5968 | 205/18723 | 1.89e-04 | 1.42e-03 | 90 |
GO:00301986 | Thyroid | PTC | extracellular matrix organization | 124/5968 | 301/18723 | 3.75e-04 | 2.53e-03 | 124 |
GO:00430626 | Thyroid | PTC | extracellular structure organization | 124/5968 | 302/18723 | 4.38e-04 | 2.92e-03 | 124 |
GO:00452296 | Thyroid | PTC | external encapsulating structure organization | 124/5968 | 304/18723 | 5.96e-04 | 3.79e-03 | 124 |
GO:00164859 | Thyroid | PTC | protein processing | 95/5968 | 225/18723 | 6.60e-04 | 4.15e-03 | 95 |
GO:000150332 | Thyroid | ATC | ossification | 206/6293 | 408/18723 | 9.23e-13 | 3.95e-11 | 206 |
GO:003019812 | Thyroid | ATC | extracellular matrix organization | 152/6293 | 301/18723 | 8.63e-10 | 2.24e-08 | 152 |
GO:004306212 | Thyroid | ATC | extracellular structure organization | 152/6293 | 302/18723 | 1.17e-09 | 2.94e-08 | 152 |
GO:004522912 | Thyroid | ATC | external encapsulating structure organization | 152/6293 | 304/18723 | 2.11e-09 | 5.08e-08 | 152 |
GO:006034813 | Thyroid | ATC | bone development | 102/6293 | 205/18723 | 1.18e-06 | 1.52e-05 | 102 |
GO:0051604110 | Thyroid | ATC | protein maturation | 136/6293 | 294/18723 | 4.00e-06 | 4.42e-05 | 136 |
GO:0060349 | Thyroid | ATC | bone morphogenesis | 50/6293 | 93/18723 | 4.87e-05 | 3.88e-04 | 50 |
GO:00487053 | Thyroid | ATC | skeletal system morphogenesis | 101/6293 | 220/18723 | 9.48e-05 | 6.93e-04 | 101 |
GO:00329633 | Thyroid | ATC | collagen metabolic process | 52/6293 | 104/18723 | 3.94e-04 | 2.38e-03 | 52 |
GO:001648515 | Thyroid | ATC | protein processing | 100/6293 | 225/18723 | 4.39e-04 | 2.62e-03 | 100 |
GO:19048882 | Thyroid | ATC | cranial skeletal system development | 35/6293 | 68/18723 | 1.76e-03 | 8.71e-03 | 35 |
GO:00485688 | Thyroid | ATC | embryonic organ development | 172/6293 | 427/18723 | 2.08e-03 | 9.84e-03 | 172 |
GO:0060350 | Thyroid | ATC | endochondral bone morphogenesis | 28/6293 | 54/18723 | 4.27e-03 | 1.80e-02 | 28 |
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 |
MMP16 | SNV | Missense_Mutation | | c.1639G>A | p.Asp547Asn | p.D547N | P51512 | protein_coding | tolerated(0.13) | benign(0.081) | TCGA-A7-A5ZX-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
MMP16 | SNV | Missense_Mutation | | c.1197N>A | p.Ser399Arg | p.S399R | P51512 | protein_coding | tolerated(0.36) | benign(0.009) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
MMP16 | SNV | Missense_Mutation | novel | c.713N>T | p.Asn238Ile | p.N238I | P51512 | protein_coding | tolerated(0.11) | possibly_damaging(0.861) | TCGA-B6-A400-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MMP16 | SNV | Missense_Mutation | | c.1215C>A | p.Phe405Leu | p.F405L | P51512 | protein_coding | deleterious(0.01) | probably_damaging(0.966) | TCGA-BH-A0HY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | taxotere | CR |
MMP16 | SNV | Missense_Mutation | | c.1106G>C | p.Arg369Thr | p.R369T | P51512 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MMP16 | SNV | Missense_Mutation | rs780118679 | c.272A>G | p.Asn91Ser | p.N91S | P51512 | protein_coding | tolerated(0.42) | benign(0.021) | TCGA-E2-A15S-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MMP16 | SNV | Missense_Mutation | | c.182C>T | p.Ser61Leu | p.S61L | P51512 | protein_coding | deleterious(0) | possibly_damaging(0.673) | TCGA-E2-A1LI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
MMP16 | insertion | Nonsense_Mutation | novel | c.1605_1606insGTGTAATTTGTCCTAACAGCAGTATTGTCATTTTCATGTGACCTGC | p.Thr536ValfsTer2 | p.T536Vfs*2 | P51512 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
MMP16 | insertion | In_Frame_Ins | novel | c.1525_1526insTGCTCGATTTCCTCTGCCTCTCTCTTTGCCGAGCTTTCCGCG | p.Lys509delinsMetLeuAspPheLeuCysLeuSerLeuCysArgAlaPheArgGlu | p.K509delinsMLDFLCLSLCRAFRE | P51512 | protein_coding | | | TCGA-B6-A0IJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MMP16 | SNV | Missense_Mutation | novel | c.1705N>C | p.Ile569Leu | p.I569L | P51512 | protein_coding | tolerated(0.26) | benign(0.163) | TCGA-DS-A7WI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |