| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_421264 | 4 | 1725147:1725310:1725428:1725597:1729434:1729793 | 1725428:1725597 | ENSG00000013810.14 | ENST00000467746.1 |
| exon_skip_421266 | 4 | 1725147:1725310:1725454:1725597:1729434:1729793 | 1725454:1725597 | ENSG00000013810.14 | ENST00000484651.1,ENST00000493975.1,ENST00000313288.4,ENST00000458173.3 |
| exon_skip_421270 | 4 | 1725544:1725597:1729434:1730514:1732613:1732689 | 1729434:1730514 | ENSG00000013810.14 | ENST00000484651.1,ENST00000313288.4 |
| exon_skip_421272 | 4 | 1730130:1730514:1732613:1732689:1732898:1732958 | 1732613:1732689 | ENSG00000013810.14 | ENST00000484651.1,ENST00000470136.1,ENST00000313288.4 |
| exon_skip_421276 | 4 | 1732613:1732689:1732898:1733028:1736999:1737052 | 1732898:1733028 | ENSG00000013810.14 | ENST00000484651.1,ENST00000485989.2,ENST00000466077.1,ENST00000313288.4 |
| exon_skip_421277 | 4 | 1737457:1737561:1738967:1739055:1739324:1739372 | 1738967:1739055 | ENSG00000013810.14 | ENST00000484651.1,ENST00000466077.1,ENST00000313288.4 |
| exon_skip_421283 | 4 | 1741685:1741729:1742552:1742713:1746244:1746351 | 1742552:1742713 | ENSG00000013810.14 | ENST00000313288.4 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_421264 | 4 | 1725147:1725310:1725428:1725597:1729434:1729793 | 1725428:1725597 | ENSG00000013810.14 | ENST00000467746.1 |
| exon_skip_421266 | 4 | 1725147:1725310:1725454:1725597:1729434:1729793 | 1725454:1725597 | ENSG00000013810.14 | ENST00000484651.1,ENST00000313288.4,ENST00000493975.1,ENST00000458173.3 |
| exon_skip_421270 | 4 | 1725544:1725597:1729434:1730514:1732613:1732689 | 1729434:1730514 | ENSG00000013810.14 | ENST00000484651.1,ENST00000313288.4 |
| exon_skip_421272 | 4 | 1730130:1730514:1732613:1732689:1732898:1732958 | 1732613:1732689 | ENSG00000013810.14 | ENST00000484651.1,ENST00000313288.4,ENST00000470136.1 |
| exon_skip_421276 | 4 | 1732613:1732689:1732898:1733028:1736999:1737052 | 1732898:1733028 | ENSG00000013810.14 | ENST00000485989.2,ENST00000484651.1,ENST00000313288.4,ENST00000466077.1 |
| exon_skip_421277 | 4 | 1737457:1737561:1738967:1739055:1739324:1739372 | 1738967:1739055 | ENSG00000013810.14 | ENST00000484651.1,ENST00000313288.4,ENST00000466077.1 |
| exon_skip_421283 | 4 | 1741685:1741729:1742552:1742713:1746244:1746351 | 1742552:1742713 | ENSG00000013810.14 | ENST00000313288.4 |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9Y6A5 | 102 | 461 | 2 | 838 | Chain | ID=PRO_0000179990;Note=Transforming acidic coiled-coil-containing protein 3 |
| Q9Y6A5 | 102 | 461 | 2 | 838 | Chain | ID=PRO_0000179990;Note=Transforming acidic coiled-coil-containing protein 3 |
| Q9Y6A5 | 102 | 461 | 2 | 838 | Chain | ID=PRO_0000179990;Note=Transforming acidic coiled-coil-containing protein 3 |
| Q9Y6A5 | 102 | 461 | 155 | 160 | Compositional bias | Note=Poly-Ser |
| Q9Y6A5 | 102 | 461 | 155 | 160 | Compositional bias | Note=Poly-Ser |
| Q9Y6A5 | 102 | 461 | 155 | 160 | Compositional bias | Note=Poly-Ser |
| Q9Y6A5 | 102 | 461 | 175 | 175 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9Y6A5 | 102 | 461 | 175 | 175 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9Y6A5 | 102 | 461 | 175 | 175 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9Y6A5 | 102 | 461 | 177 | 177 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 177 | 177 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 177 | 177 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 250 | 250 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 250 | 250 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 250 | 250 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 317 | 317 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 317 | 317 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 317 | 317 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q9Y6A5 | 102 | 461 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q9Y6A5 | 102 | 461 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q9Y6A5 | 102 | 461 | 434 | 434 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 434 | 434 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 434 | 434 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 143 | 143 | Natural variant | ID=VAR_053714;Note=E->K;Dbxref=dbSNP:rs34205238 |
| Q9Y6A5 | 102 | 461 | 143 | 143 | Natural variant | ID=VAR_053714;Note=E->K;Dbxref=dbSNP:rs34205238 |
| Q9Y6A5 | 102 | 461 | 143 | 143 | Natural variant | ID=VAR_053714;Note=E->K;Dbxref=dbSNP:rs34205238 |
| Q9Y6A5 | 102 | 461 | 275 | 275 | Natural variant | ID=VAR_053715;Note=C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17132047,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 275 | 275 | Natural variant | ID=VAR_053715;Note=C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17132047,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 275 | 275 | Natural variant | ID=VAR_053715;Note=C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17132047,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 287 | 287 | Natural variant | ID=VAR_053716;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1063743,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 287 | 287 | Natural variant | ID=VAR_053716;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1063743,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 287 | 287 | Natural variant | ID=VAR_053716;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1063743,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 342 | 342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 342 | 342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 342 | 342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 406 | 406 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 406 | 406 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 406 | 406 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9Y6A5 | 102 | 461 | 2 | 838 | Chain | ID=PRO_0000179990;Note=Transforming acidic coiled-coil-containing protein 3 |
| Q9Y6A5 | 102 | 461 | 2 | 838 | Chain | ID=PRO_0000179990;Note=Transforming acidic coiled-coil-containing protein 3 |
| Q9Y6A5 | 102 | 461 | 2 | 838 | Chain | ID=PRO_0000179990;Note=Transforming acidic coiled-coil-containing protein 3 |
| Q9Y6A5 | 102 | 461 | 155 | 160 | Compositional bias | Note=Poly-Ser |
| Q9Y6A5 | 102 | 461 | 155 | 160 | Compositional bias | Note=Poly-Ser |
| Q9Y6A5 | 102 | 461 | 155 | 160 | Compositional bias | Note=Poly-Ser |
| Q9Y6A5 | 102 | 461 | 175 | 175 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9Y6A5 | 102 | 461 | 175 | 175 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9Y6A5 | 102 | 461 | 175 | 175 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q9Y6A5 | 102 | 461 | 177 | 177 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 177 | 177 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 177 | 177 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 250 | 250 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 250 | 250 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 250 | 250 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 317 | 317 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 317 | 317 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 317 | 317 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q9Y6A5 | 102 | 461 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q9Y6A5 | 102 | 461 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q9Y6A5 | 102 | 461 | 434 | 434 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 434 | 434 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 434 | 434 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:23186163 |
| Q9Y6A5 | 102 | 461 | 143 | 143 | Natural variant | ID=VAR_053714;Note=E->K;Dbxref=dbSNP:rs34205238 |
| Q9Y6A5 | 102 | 461 | 143 | 143 | Natural variant | ID=VAR_053714;Note=E->K;Dbxref=dbSNP:rs34205238 |
| Q9Y6A5 | 102 | 461 | 143 | 143 | Natural variant | ID=VAR_053714;Note=E->K;Dbxref=dbSNP:rs34205238 |
| Q9Y6A5 | 102 | 461 | 275 | 275 | Natural variant | ID=VAR_053715;Note=C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17132047,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 275 | 275 | Natural variant | ID=VAR_053715;Note=C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17132047,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 275 | 275 | Natural variant | ID=VAR_053715;Note=C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17132047,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 287 | 287 | Natural variant | ID=VAR_053716;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1063743,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 287 | 287 | Natural variant | ID=VAR_053716;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1063743,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 287 | 287 | Natural variant | ID=VAR_053716;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11298601,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1063743,PMID:11298601,PMID:15489334 |
| Q9Y6A5 | 102 | 461 | 342 | 342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 342 | 342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 342 | 342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 406 | 406 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 406 | 406 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y6A5 | 102 | 461 | 406 | 406 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D3-A2JH-06 |
| Cancer type: SKCM |
| ESID: exon_skip_421283 |
| Skipped exon start: 1742553 |
| Skipped exon end: 1742713 |
| Mutation start: 1742558 |
| Mutation end: 1742559 |
| Mutation type: Frame_Shift_Ins |
| Reference seq: - |
| Mutation seq: T |
| AAchange: p.S690fs |
exon_skip_372215_SKCM_TCGA-D3-A2JH-06.png
 |
exon_skip_421283_SKCM_TCGA-D3-A2JH-06.png
 |
 | Sample: TCGA-GN-A4U8-06 |
| Cancer type: SKCM |
| ESID: exon_skip_421283 |
| Skipped exon start: 1742553 |
| Skipped exon end: 1742713 |
| Mutation start: 1742685 |
| Mutation end: 1742688 |
| Mutation type: Frame_Shift_Del |
| Reference seq: AGAA |
| Mutation seq: - |
| AAchange: p.QK732fs |
exon_skip_421283_SKCM_TCGA-GN-A4U8-06.png
 |
exon_skip_62256_SKCM_TCGA-GN-A4U8-06.png
 |
 | Sample: TCGA-38-4630-01 |
| Cancer type: LUAD |
| ESID: exon_skip_421270 |
| Skipped exon start: 1729435 |
| Skipped exon end: 1730514 |
| Mutation start: 1730435 |
| Mutation end: 1730435 |
| Mutation type: Nonsense_Mutation |
| Reference seq: G |
| Mutation seq: T |
| AAchange: p.E436* |
exon_skip_290783_LUAD_TCGA-38-4630-01.png
 |
exon_skip_421270_LUAD_TCGA-38-4630-01.png
 |
 | Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA |
| ESID: exon_skip_421270 |
| Skipped exon start: 1729435 |
| Skipped exon end: 1730514 |
| Mutation start: 1730307 |
| Mutation end: 1730308 |
| Mutation type: Frame_Shift_Ins |
| Reference seq: - |
| Mutation seq: C |
| AAchange: p.D393fs |
 | Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA |
| ESID: exon_skip_421270 |
| Skipped exon start: 1729435 |
| Skipped exon end: 1730514 |
| Mutation start: 1730307 |
| Mutation end: 1730308 |
| Mutation type: Frame_Shift_Ins |
| Reference seq: - |
| Mutation seq: C |
| AAchange: p.A393fs |
 | Sample: TCGA-L5-A8NM-01 |
| Cancer type: ESCA |
| ESID: exon_skip_421270 |
| Skipped exon start: 1729435 |
| Skipped exon end: 1730514 |
| Mutation start: 1730307 |
| Mutation end: 1730308 |
| Mutation type: Frame_Shift_Ins |
| Reference seq: - |
| Mutation seq: C |
| AAchange: p.M396fs |
exon_skip_126510_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_145922_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_20931_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_290909_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_301129_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_308211_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_308974_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_310302_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_329666_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_330701_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_330704_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_356820_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_356824_ESCA_TCGA-L5-A8NM-01.png
 |
exon_skip_370065_ESCA_TCGA-L5-A8NM-01.png
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 | Sample: TCGA-F7-7848-01 |
| Cancer type: HNSC |
| ESID: exon_skip_421270 |
| Skipped exon start: 1729435 |
| Skipped exon end: 1730514 |
| Mutation start: 1730308 |
| Mutation end: 1730308 |
| Mutation type: Frame_Shift_Del |
| Reference seq: C |
| Mutation seq: - |
| AAchange: p.D393fs |
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| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LOVO_LARGE_INTESTINE | 1729435 | 1730514 | 1730308 | 1730308 | Frame_Shift_Del | C | - | p.D393fs |
| SKUT1_SOFT_TISSUE | 1729435 | 1730514 | 1730308 | 1730308 | Frame_Shift_Del | C | - | p.D393fs |
| HCC2450_LUNG | 1725429 | 1725597 | 1725466 | 1725466 | Missense_Mutation | G | T | p.Q58H |
| HCC2450_LUNG | 1725455 | 1725597 | 1725466 | 1725466 | Missense_Mutation | G | T | p.Q58H |
| SNU520_STOMACH | 1725429 | 1725597 | 1725576 | 1725576 | Missense_Mutation | C | T | p.P95L |
| SNU520_STOMACH | 1725455 | 1725597 | 1725576 | 1725576 | Missense_Mutation | C | T | p.P95L |
| SNU1040_LARGE_INTESTINE | 1725429 | 1725597 | 1725576 | 1725576 | Missense_Mutation | C | T | p.P95L |
| SNU1040_LARGE_INTESTINE | 1725455 | 1725597 | 1725576 | 1725576 | Missense_Mutation | C | T | p.P95L |
| DU145_PROSTATE | 1729435 | 1730514 | 1729599 | 1729599 | Missense_Mutation | C | T | p.S157F |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1729435 | 1730514 | 1729644 | 1729644 | Missense_Mutation | G | A | p.G172E |
| LNCAPCLONEFGC_PROSTATE | 1729435 | 1730514 | 1729653 | 1729653 | Missense_Mutation | C | T | p.S175F |
| A375_SKIN | 1729435 | 1730514 | 1729698 | 1729698 | Missense_Mutation | C | T | p.S190F |
| ML1_THYROID | 1729435 | 1730514 | 1729703 | 1729703 | Missense_Mutation | G | A | p.D192N |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1729435 | 1730514 | 1729707 | 1729707 | Missense_Mutation | G | A | p.R193K |
| SBC3_LUNG | 1729435 | 1730514 | 1729707 | 1729707 | Missense_Mutation | G | A | p.R193K |
| SCMCRM2_SOFT_TISSUE | 1729435 | 1730514 | 1729712 | 1729712 | Missense_Mutation | G | A | p.V195M |
| KMRC2_KIDNEY | 1729435 | 1730514 | 1729712 | 1729712 | Missense_Mutation | G | A | p.V195M |
| TC106_BONE | 1729435 | 1730514 | 1729727 | 1729727 | Missense_Mutation | G | A | p.E200K |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1729435 | 1730514 | 1729964 | 1729964 | Missense_Mutation | G | A | p.V279M |
| COLO668_LUNG | 1729435 | 1730514 | 1729968 | 1729968 | Missense_Mutation | G | T | p.G280V |
| UMC11_LUNG | 1729435 | 1730514 | 1729994 | 1729994 | Missense_Mutation | C | G | p.Q289E |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1729435 | 1730514 | 1730022 | 1730022 | Missense_Mutation | C | T | p.A298V |
| NEC8_TESTIS | 1729435 | 1730514 | 1730040 | 1730040 | Missense_Mutation | C | T | p.P304L |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1729435 | 1730514 | 1730049 | 1730049 | Missense_Mutation | A | T | p.H307L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1729435 | 1730514 | 1730121 | 1730121 | Missense_Mutation | C | T | p.S331L |
| DOK_UPPER_AERODIGESTIVE_TRACT | 1729435 | 1730514 | 1730132 | 1730132 | Missense_Mutation | C | T | p.P335S |
| OCIMY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1729435 | 1730514 | 1730213 | 1730213 | Missense_Mutation | G | A | p.G362S |
| NB69_AUTONOMIC_GANGLIA | 1729435 | 1730514 | 1730317 | 1730317 | Missense_Mutation | G | T | p.M396I |
| GP5D_LARGE_INTESTINE | 1729435 | 1730514 | 1730423 | 1730423 | Missense_Mutation | C | T | p.P432S |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1729435 | 1730514 | 1730483 | 1730483 | Missense_Mutation | G | A | p.A452T |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1732899 | 1733028 | 1732953 | 1732953 | Missense_Mutation | G | A | p.E506K |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1732899 | 1733028 | 1732953 | 1732953 | Missense_Mutation | G | A | p.E506K |
| LC2AD_LUNG | 1732899 | 1733028 | 1732953 | 1732953 | Missense_Mutation | G | A | p.E506K |
| LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1732899 | 1733028 | 1732953 | 1732953 | Missense_Mutation | G | A | p.E506K |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1732899 | 1733028 | 1732983 | 1732983 | Missense_Mutation | C | T | p.P516S |
| EN_ENDOMETRIUM | 1732899 | 1733028 | 1733013 | 1733013 | Missense_Mutation | A | G | p.R526G |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1738968 | 1739055 | 1738978 | 1738978 | Missense_Mutation | G | A | p.A587T |
| A388_SKIN | 1738968 | 1739055 | 1738984 | 1738984 | Missense_Mutation | G | A | p.E589K |
| SBC3_LUNG | 1738968 | 1739055 | 1739000 | 1739000 | Missense_Mutation | G | A | p.R594H |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1738968 | 1739055 | 1739000 | 1739000 | Missense_Mutation | G | A | p.R594H |
| JHOS3_OVARY | 1738968 | 1739055 | 1739012 | 1739012 | Missense_Mutation | C | G | p.A598G |
| NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1738968 | 1739055 | 1739012 | 1739012 | Missense_Mutation | C | G | p.A598G |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1742553 | 1742713 | 1742575 | 1742575 | Missense_Mutation | A | T | p.E695D |
| LS411N_LARGE_INTESTINE | 1742553 | 1742713 | 1742696 | 1742696 | Missense_Mutation | A | G | p.I736V |
| HCT15_LARGE_INTESTINE | 1725429 | 1725597 | 1725542 | 1725542 | Nonsense_Mutation | C | T | p.Q84* |
| HCT15_LARGE_INTESTINE | 1725455 | 1725597 | 1725542 | 1725542 | Nonsense_Mutation | C | T | p.Q84* |
| HRT18_LARGE_INTESTINE | 1725429 | 1725597 | 1725542 | 1725542 | Nonsense_Mutation | C | T | p.Q84* |
| HRT18_LARGE_INTESTINE | 1725455 | 1725597 | 1725542 | 1725542 | Nonsense_Mutation | C | T | p.Q84* |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1732899 | 1733028 | 1733027 | 1733027 | Splice_Site | G | T | p.E530D |