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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for BCL11A |
 Gene summary |
| Gene information | Gene symbol | BCL11A | Gene ID | 53335 |
| Gene name | B cell CLL/lymphoma 11A | |
| Synonyms | BCL11A-L|BCL11A-S|BCL11A-XL|BCL11a-M|CTIP1|DILOS|EVI9|HBFQTL5|ZNF856 | |
| Cytomap | 2p16.1 | |
| Type of gene | protein-coding | |
| Description | B-cell lymphoma/leukemia 11AB-cell CLL/lymphoma 11A (zinc finger protein) isoform 2BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1C2H2-type zinc finger proteinCOUP-TF-interacting protein 1ecotropic viral integration site 9 homologecot | |
| Modification date | 20180527 | |
| UniProtAcc | Q9H165 | |
| Context | PubMed: BCL11A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| BCL11A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 19153051 |
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Exon skipping events across known transcript of Ensembl for BCL11A from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for BCL11A |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for BCL11A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339350 | 2 | 60679711:60679801:60687664:60689559:60773105:60773315 | 60687664:60689559 | ENSG00000119866.16 | ENST00000538214.1 |
| exon_skip_339351 | 2 | 60679711:60679801:60687816:60688879:60689416:60689559 | 60687816:60688879 | ENSG00000119866.16 | ENST00000537768.1 |
| exon_skip_339352 | 2 | 60679711:60679801:60687816:60689559:60695866:60695968 | 60687816:60689559 | ENSG00000119866.16 | ENST00000356842.4 |
| exon_skip_339354 | 2 | 60679711:60679801:60689416:60689559:60695866:60695968 | 60689416:60689559 | ENSG00000119866.16 | ENST00000359629.5,ENST00000492272.1,ENST00000489516.2 |
| exon_skip_339357 | 2 | 60689416:60689559:60695866:60695968:60754789:60754929 | 60695866:60695968 | ENSG00000119866.16 | ENST00000492272.1 |
| exon_skip_339359 | 2 | 60689416:60689559:60695866:60695968:60773105:60773315 | 60695866:60695968 | ENSG00000119866.16 | ENST00000359629.5,ENST00000335712.6,ENST00000356842.4,ENST00000489516.2 |
| exon_skip_339360 | 2 | 60695866:60695968:60735740:60735959:60773105:60773315 | 60735740:60735959 | ENSG00000119866.16 | ENST00000537768.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCL11A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339350 | 2 | 60679711:60679801:60687664:60689559:60773105:60773315 | 60687664:60689559 | ENSG00000119866.16 | ENST00000538214.1 |
| exon_skip_339351 | 2 | 60679711:60679801:60687816:60688879:60689416:60689559 | 60687816:60688879 | ENSG00000119866.16 | ENST00000537768.1 |
| exon_skip_339352 | 2 | 60679711:60679801:60687816:60689559:60695866:60695968 | 60687816:60689559 | ENSG00000119866.16 | ENST00000356842.4 |
| exon_skip_339354 | 2 | 60679711:60679801:60689416:60689559:60695866:60695968 | 60689416:60689559 | ENSG00000119866.16 | ENST00000359629.5,ENST00000489516.2,ENST00000492272.1 |
| exon_skip_339357 | 2 | 60689416:60689559:60695866:60695968:60754789:60754929 | 60695866:60695968 | ENSG00000119866.16 | ENST00000492272.1 |
| exon_skip_339359 | 2 | 60689416:60689559:60695866:60695968:60773105:60773315 | 60695866:60695968 | ENSG00000119866.16 | ENST00000356842.4,ENST00000359629.5,ENST00000489516.2,ENST00000335712.6 |
| exon_skip_339360 | 2 | 60695866:60695968:60735740:60735959:60773105:60773315 | 60735740:60735959 | ENSG00000119866.16 | ENST00000537768.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for BCL11A |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for BCL11A |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
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SNVs in the skipped exons for BCL11A |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
BCL11A_STAD_exon_skip_339351_psi_boxplot.png |
BCL11A_STAD_exon_skip_339352_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LUAD | TCGA-MN-A4N5-01 | exon_skip_339350 | 60687665 | 60689559 | 60688017 | 60688017 | Frame_Shift_Del | C | - | p.G677fs |
| LUAD | TCGA-MN-A4N5-01 | exon_skip_339351 | 60687817 | 60688879 | 60688017 | 60688017 | Frame_Shift_Del | C | - | p.G677fs |
| LUAD | TCGA-MN-A4N5-01 | exon_skip_339352 | 60687817 | 60689559 | 60688017 | 60688017 | Frame_Shift_Del | C | - | p.G677fs |
| COAD | TCGA-AA-3663-01 | exon_skip_339350 | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| COAD | TCGA-AA-3663-01 | exon_skip_339352 | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| COAD | TCGA-AY-6197-01 | exon_skip_339350 | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| COAD | TCGA-AY-6197-01 | exon_skip_339352 | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| COAD | TCGA-CK-5916-01 | exon_skip_339350 | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| COAD | TCGA-CK-5916-01 | exon_skip_339352 | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_339350 | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_339352 | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339350 | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339352 | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_339350 | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_339352 | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| STAD | TCGA-BR-8059-01 | exon_skip_339350 | 60687665 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| STAD | TCGA-BR-8059-01 | exon_skip_339352 | 60687817 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| STAD | TCGA-CG-5723-01 | exon_skip_339350 | 60687665 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| STAD | TCGA-CG-5723-01 | exon_skip_339352 | 60687817 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| UCEC | TCGA-D1-A17M-01 | exon_skip_339350 | 60687665 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| UCEC | TCGA-D1-A17M-01 | exon_skip_339352 | 60687817 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_339350 | 60687665 | 60689559 | 60688199 | 60688200 | Frame_Shift_Ins | - | C | p.G616fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_339351 | 60687817 | 60688879 | 60688199 | 60688200 | Frame_Shift_Ins | - | C | p.G616fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_339352 | 60687817 | 60689559 | 60688199 | 60688200 | Frame_Shift_Ins | - | C | p.G616fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_339350 | 60687665 | 60689559 | 60688200 | 60688201 | Frame_Shift_Ins | - | C | p.G616fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_339351 | 60687817 | 60688879 | 60688200 | 60688201 | Frame_Shift_Ins | - | C | p.G616fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_339352 | 60687817 | 60689559 | 60688200 | 60688201 | Frame_Shift_Ins | - | C | p.G616fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_339350 | 60687665 | 60689559 | 60688968 | 60688969 | Frame_Shift_Ins | - | G | p.P360fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_339352 | 60687817 | 60689559 | 60688968 | 60688969 | Frame_Shift_Ins | - | G | p.P360fs |
| THCA | TCGA-EM-A2CJ-01 | exon_skip_339350 | 60687665 | 60689559 | 60688968 | 60688969 | Frame_Shift_Ins | - | G | p.P360fs |
| THCA | TCGA-EM-A2CJ-01 | exon_skip_339352 | 60687817 | 60689559 | 60688968 | 60688969 | Frame_Shift_Ins | - | G | p.P360fs |
| STAD | TCGA-BR-6802-01 | exon_skip_339350 | 60687665 | 60689559 | 60689254 | 60689255 | Frame_Shift_Ins | - | G | p.L265fs |
| STAD | TCGA-BR-6802-01 | exon_skip_339352 | 60687817 | 60689559 | 60689254 | 60689255 | Frame_Shift_Ins | - | G | p.L265fs |
| COAD | TCGA-D5-6930-01 | exon_skip_339350 | 60687665 | 60689559 | 60687925 | 60687925 | Nonsense_Mutation | C | A | p.G708X |
| COAD | TCGA-D5-6930-01 | exon_skip_339351 | 60687817 | 60688879 | 60687925 | 60687925 | Nonsense_Mutation | C | A | p.G708X |
| COAD | TCGA-D5-6930-01 | exon_skip_339352 | 60687817 | 60689559 | 60687925 | 60687925 | Nonsense_Mutation | C | A | p.G708X |
| LUAD | TCGA-53-7624-01 | exon_skip_339350 | 60687665 | 60689559 | 60688270 | 60688270 | Nonsense_Mutation | C | A | p.E593* |
| LUAD | TCGA-53-7624-01 | exon_skip_339351 | 60687817 | 60688879 | 60688270 | 60688270 | Nonsense_Mutation | C | A | p.E593* |
| LUAD | TCGA-53-7624-01 | exon_skip_339352 | 60687817 | 60689559 | 60688270 | 60688270 | Nonsense_Mutation | C | A | p.E593* |
| CESC | TCGA-Q1-A73O-01 | exon_skip_339357 exon_skip_339359 | 60695867 | 60695968 | 60695969 | 60695969 | Splice_Site | C | G | e3-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-Q1-A73O-01 |
| Cancer type: CESC | |
| ESID: exon_skip_339359 | |
| Skipped exon start: 60695867 | |
| Skipped exon end: 60695968 | |
| Mutation start: 60695969 | |
| Mutation end: 60695969 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: e3-1 | |
exon_skip_324730_CESC_TCGA-Q1-A73O-01.png | |
exon_skip_339359_CESC_TCGA-Q1-A73O-01.png | |
exon_skip_383170_CESC_TCGA-Q1-A73O-01.png | |
exon_skip_54542_CESC_TCGA-Q1-A73O-01.png | |
 | Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
| Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
| Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
exon_skip_142268_COAD_TCGA-D5-6930-01.png | |
exon_skip_339351_COAD_TCGA-D5-6930-01.png | |
exon_skip_374468_COAD_TCGA-D5-6930-01.png | |
exon_skip_374469_COAD_TCGA-D5-6930-01.png | |
exon_skip_435489_COAD_TCGA-D5-6930-01.png | |
exon_skip_440412_COAD_TCGA-D5-6930-01.png | |
exon_skip_450406_COAD_TCGA-D5-6930-01.png | |
 | Sample: TCGA-AA-3663-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| Sample: TCGA-AA-3663-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
exon_skip_18752_COAD_TCGA-AA-3663-01.png | |
exon_skip_339350_COAD_TCGA-AA-3663-01.png | |
exon_skip_339352_COAD_TCGA-AA-3663-01.png | |
exon_skip_37074_COAD_TCGA-AA-3663-01.png | |
exon_skip_379370_COAD_TCGA-AA-3663-01.png | |
exon_skip_384539_COAD_TCGA-AA-3663-01.png | |
exon_skip_384545_COAD_TCGA-AA-3663-01.png | |
exon_skip_449340_COAD_TCGA-AA-3663-01.png | |
exon_skip_49506_COAD_TCGA-AA-3663-01.png | |
exon_skip_499778_COAD_TCGA-AA-3663-01.png | |
exon_skip_84515_COAD_TCGA-AA-3663-01.png | |
 | Sample: TCGA-AY-6197-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| Sample: TCGA-AY-6197-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
exon_skip_110606_COAD_TCGA-AY-6197-01.png | |
exon_skip_121022_COAD_TCGA-AY-6197-01.png | |
exon_skip_315782_COAD_TCGA-AY-6197-01.png | |
exon_skip_320294_COAD_TCGA-AY-6197-01.png | |
exon_skip_331095_COAD_TCGA-AY-6197-01.png | |
exon_skip_331623_COAD_TCGA-AY-6197-01.png | |
exon_skip_339350_COAD_TCGA-AY-6197-01.png | |
exon_skip_343170_COAD_TCGA-AY-6197-01.png | |
exon_skip_40234_COAD_TCGA-AY-6197-01.png | |
exon_skip_40235_COAD_TCGA-AY-6197-01.png | |
exon_skip_449340_COAD_TCGA-AY-6197-01.png | |
exon_skip_489149_COAD_TCGA-AY-6197-01.png | |
exon_skip_77460_COAD_TCGA-AY-6197-01.png | |
 | Sample: TCGA-CK-5916-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| Sample: TCGA-CK-5916-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
exon_skip_307669_COAD_TCGA-CK-5916-01.png | |
exon_skip_339350_COAD_TCGA-CK-5916-01.png | |
exon_skip_339352_COAD_TCGA-CK-5916-01.png | |
exon_skip_377604_COAD_TCGA-CK-5916-01.png | |
exon_skip_470072_COAD_TCGA-CK-5916-01.png | |
exon_skip_503611_COAD_TCGA-CK-5916-01.png | |
exon_skip_51385_COAD_TCGA-CK-5916-01.png | |
 | Sample: TCGA-BR-A4QL-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| Sample: TCGA-BR-A4QL-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
exon_skip_124605_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_13071_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_145593_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_16608_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_16960_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_25783_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_25785_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_25787_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_339350_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_339352_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_349646_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_349648_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_353133_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_353134_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_357521_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_366741_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_498531_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_93093_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_95294_STAD_TCGA-BR-A4QL-01.png | |
exon_skip_97694_STAD_TCGA-BR-A4QL-01.png | |
 | Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
exon_skip_314019_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_3151_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_339350_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_339351_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_339352_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_353916_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_376639_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_377238_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_42171_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_425815_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_432212_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_4414_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_458618_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_459316_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_91143_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_95945_STAD_TCGA-HU-A4GX-01.png | |
 | Sample: TCGA-D1-A17M-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60689254 | |
| Mutation end: 60689254 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L265fs | |
| Sample: TCGA-D1-A17M-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60689254 | |
| Mutation end: 60689254 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L265fs | |
exon_skip_339352_UCEC_TCGA-D1-A17M-01.png | |
exon_skip_370065_UCEC_TCGA-D1-A17M-01.png | |
 | Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
| Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
| Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
| exon_skip_142268_COAD_TCGA-D5-6930-01.png | |
| exon_skip_339351_COAD_TCGA-D5-6930-01.png | |
| exon_skip_374468_COAD_TCGA-D5-6930-01.png | |
| exon_skip_374469_COAD_TCGA-D5-6930-01.png | |
| exon_skip_435489_COAD_TCGA-D5-6930-01.png | |
| exon_skip_440412_COAD_TCGA-D5-6930-01.png | |
| exon_skip_450406_COAD_TCGA-D5-6930-01.png | |
 | Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| exon_skip_314019_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_3151_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_339350_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_339351_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_339352_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_353916_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_376639_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_377238_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_42171_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_425815_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_432212_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_4414_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_458618_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_459316_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_91143_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_95945_STAD_TCGA-HU-A4GX-01.png | |
 | Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
| Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
| Sample: TCGA-D5-6930-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60687925 | |
| Mutation end: 60687925 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.G708X | |
| exon_skip_142268_COAD_TCGA-D5-6930-01.png | |
| exon_skip_339351_COAD_TCGA-D5-6930-01.png | |
| exon_skip_374468_COAD_TCGA-D5-6930-01.png | |
| exon_skip_374469_COAD_TCGA-D5-6930-01.png | |
| exon_skip_435489_COAD_TCGA-D5-6930-01.png | |
| exon_skip_440412_COAD_TCGA-D5-6930-01.png | |
| exon_skip_450406_COAD_TCGA-D5-6930-01.png | |
 | Sample: TCGA-AA-3663-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| Sample: TCGA-AA-3663-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| exon_skip_18752_COAD_TCGA-AA-3663-01.png | |
| exon_skip_339350_COAD_TCGA-AA-3663-01.png | |
| exon_skip_339352_COAD_TCGA-AA-3663-01.png | |
| exon_skip_37074_COAD_TCGA-AA-3663-01.png | |
| exon_skip_379370_COAD_TCGA-AA-3663-01.png | |
| exon_skip_384539_COAD_TCGA-AA-3663-01.png | |
| exon_skip_384545_COAD_TCGA-AA-3663-01.png | |
| exon_skip_449340_COAD_TCGA-AA-3663-01.png | |
| exon_skip_49506_COAD_TCGA-AA-3663-01.png | |
| exon_skip_499778_COAD_TCGA-AA-3663-01.png | |
| exon_skip_84515_COAD_TCGA-AA-3663-01.png | |
 | Sample: TCGA-AY-6197-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| Sample: TCGA-AY-6197-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| exon_skip_110606_COAD_TCGA-AY-6197-01.png | |
| exon_skip_121022_COAD_TCGA-AY-6197-01.png | |
| exon_skip_315782_COAD_TCGA-AY-6197-01.png | |
| exon_skip_320294_COAD_TCGA-AY-6197-01.png | |
| exon_skip_331095_COAD_TCGA-AY-6197-01.png | |
| exon_skip_331623_COAD_TCGA-AY-6197-01.png | |
| exon_skip_339350_COAD_TCGA-AY-6197-01.png | |
| exon_skip_343170_COAD_TCGA-AY-6197-01.png | |
| exon_skip_40234_COAD_TCGA-AY-6197-01.png | |
| exon_skip_40235_COAD_TCGA-AY-6197-01.png | |
| exon_skip_449340_COAD_TCGA-AY-6197-01.png | |
| exon_skip_489149_COAD_TCGA-AY-6197-01.png | |
| exon_skip_77460_COAD_TCGA-AY-6197-01.png | |
 | Sample: TCGA-CK-5916-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| Sample: TCGA-CK-5916-01 |
| Cancer type: COAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| exon_skip_307669_COAD_TCGA-CK-5916-01.png | |
| exon_skip_339350_COAD_TCGA-CK-5916-01.png | |
| exon_skip_339352_COAD_TCGA-CK-5916-01.png | |
| exon_skip_377604_COAD_TCGA-CK-5916-01.png | |
| exon_skip_470072_COAD_TCGA-CK-5916-01.png | |
| exon_skip_503611_COAD_TCGA-CK-5916-01.png | |
| exon_skip_51385_COAD_TCGA-CK-5916-01.png | |
 | Sample: TCGA-BR-A4QL-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| Sample: TCGA-BR-A4QL-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688969 | |
| Mutation end: 60688969 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L360fs | |
| exon_skip_124605_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_13071_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_145593_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_16608_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_16960_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_25783_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_25785_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_25787_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_339350_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_339352_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_349646_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_349648_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_353133_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_353134_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_357521_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_366741_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_498531_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_93093_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_95294_STAD_TCGA-BR-A4QL-01.png | |
| exon_skip_97694_STAD_TCGA-BR-A4QL-01.png | |
 | Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688199 | |
| Mutation end: 60688200 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339351 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60688879 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60688200 | |
| Mutation end: 60688201 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.G616fs | |
| exon_skip_314019_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_3151_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_339350_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_339351_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_339352_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_353916_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_376639_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_377238_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_42171_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_425815_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_432212_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_4414_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_458618_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_459316_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_91143_STAD_TCGA-HU-A4GX-01.png | |
| exon_skip_95945_STAD_TCGA-HU-A4GX-01.png | |
 | Sample: TCGA-D1-A17M-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_339350 | |
| Skipped exon start: 60687665 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60689254 | |
| Mutation end: 60689254 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L265fs | |
| Sample: TCGA-D1-A17M-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_339352 | |
| Skipped exon start: 60687817 | |
| Skipped exon end: 60689559 | |
| Mutation start: 60689254 | |
| Mutation end: 60689254 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L265fs | |
| exon_skip_339352_UCEC_TCGA-D1-A17M-01.png | |
| exon_skip_370065_UCEC_TCGA-D1-A17M-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| OC316_OVARY | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| OC316_OVARY | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| HEC6_ENDOMETRIUM | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| HEC6_ENDOMETRIUM | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| SNU520_STOMACH | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| SNU520_STOMACH | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| DU145_PROSTATE | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| DU145_PROSTATE | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| EFO27_OVARY | 60687665 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| EFO27_OVARY | 60687817 | 60689559 | 60688969 | 60688969 | Frame_Shift_Del | G | - | p.L360fs |
| HEC108_ENDOMETRIUM | 60687665 | 60689559 | 60689197 | 60689197 | Frame_Shift_Del | C | - | p.A284fs |
| HEC108_ENDOMETRIUM | 60687817 | 60689559 | 60689197 | 60689197 | Frame_Shift_Del | C | - | p.A284fs |
| HEC151_ENDOMETRIUM | 60687665 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| HEC151_ENDOMETRIUM | 60687817 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| RL952_ENDOMETRIUM | 60687665 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| RL952_ENDOMETRIUM | 60687817 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| LIM1215_LARGE_INTESTINE | 60687665 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| LIM1215_LARGE_INTESTINE | 60687817 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60689254 | 60689254 | Frame_Shift_Del | G | - | p.L265fs |
| HCT116_LARGE_INTESTINE | 60687665 | 60689559 | 60687759 | 60687760 | Frame_Shift_Ins | - | T | p.S763fs |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 60687665 | 60689559 | 60688265 | 60688267 | In_Frame_Del | CGA | - | p.S594del |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 60687817 | 60688879 | 60688265 | 60688267 | In_Frame_Del | CGA | - | p.S594del |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 60687817 | 60689559 | 60688265 | 60688267 | In_Frame_Del | CGA | - | p.S594del |
| SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688554 | 60688562 | In_Frame_Del | TCCTCTTCT | - | p.495_498EEEE>E |
| SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688554 | 60688562 | In_Frame_Del | TCCTCTTCT | - | p.495_498EEEE>E |
| SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688554 | 60688562 | In_Frame_Del | TCCTCTTCT | - | p.495_498EEEE>E |
| RCCMF_KIDNEY | 60687665 | 60689559 | 60687670 | 60687670 | Missense_Mutation | C | T | p.G793S |
| OVK18_OVARY | 60687665 | 60689559 | 60687676 | 60687676 | Missense_Mutation | T | G | p.T791P |
| NCIH841_LUNG | 60687665 | 60689559 | 60687877 | 60687877 | Missense_Mutation | G | A | p.H724Y |
| NCIH841_LUNG | 60687817 | 60688879 | 60687877 | 60687877 | Missense_Mutation | G | A | p.H724Y |
| NCIH841_LUNG | 60687817 | 60689559 | 60687877 | 60687877 | Missense_Mutation | G | A | p.H724Y |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60687960 | 60687960 | Missense_Mutation | C | T | p.S696N |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60687960 | 60687960 | Missense_Mutation | C | T | p.S696N |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60687960 | 60687960 | Missense_Mutation | C | T | p.S696N |
| NCIH1623_LUNG | 60687665 | 60689559 | 60687960 | 60687960 | Missense_Mutation | C | A | p.S696I |
| NCIH1623_LUNG | 60687817 | 60688879 | 60687960 | 60687960 | Missense_Mutation | C | A | p.S696I |
| NCIH1623_LUNG | 60687817 | 60689559 | 60687960 | 60687960 | Missense_Mutation | C | A | p.S696I |
| SNU520_STOMACH | 60687665 | 60689559 | 60687984 | 60687984 | Missense_Mutation | G | A | p.S688L |
| SNU520_STOMACH | 60687817 | 60688879 | 60687984 | 60687984 | Missense_Mutation | G | A | p.S688L |
| SNU520_STOMACH | 60687817 | 60689559 | 60687984 | 60687984 | Missense_Mutation | G | A | p.S688L |
| NCIH2170_LUNG | 60687665 | 60689559 | 60688006 | 60688006 | Missense_Mutation | G | T | p.Q681K |
| NCIH2170_LUNG | 60687817 | 60688879 | 60688006 | 60688006 | Missense_Mutation | G | T | p.Q681K |
| NCIH2170_LUNG | 60687817 | 60689559 | 60688006 | 60688006 | Missense_Mutation | G | T | p.Q681K |
| NCIH2342_LUNG | 60687665 | 60689559 | 60688012 | 60688012 | Missense_Mutation | A | G | p.S679P |
| NCIH2342_LUNG | 60687817 | 60688879 | 60688012 | 60688012 | Missense_Mutation | A | G | p.S679P |
| NCIH2342_LUNG | 60687817 | 60689559 | 60688012 | 60688012 | Missense_Mutation | A | G | p.S679P |
| MM386_SKIN | 60687665 | 60689559 | 60688027 | 60688027 | Missense_Mutation | G | A | p.L674F |
| MM386_SKIN | 60687817 | 60688879 | 60688027 | 60688027 | Missense_Mutation | G | A | p.L674F |
| MM386_SKIN | 60687817 | 60689559 | 60688027 | 60688027 | Missense_Mutation | G | A | p.L674F |
| LNCAPCLONEFGC_PROSTATE | 60687665 | 60689559 | 60688054 | 60688054 | Missense_Mutation | C | T | p.A665T |
| LNCAPCLONEFGC_PROSTATE | 60687817 | 60688879 | 60688054 | 60688054 | Missense_Mutation | C | T | p.A665T |
| LNCAPCLONEFGC_PROSTATE | 60687817 | 60689559 | 60688054 | 60688054 | Missense_Mutation | C | T | p.A665T |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688147 | 60688147 | Missense_Mutation | T | C | p.K634E |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688147 | 60688147 | Missense_Mutation | T | C | p.K634E |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688147 | 60688147 | Missense_Mutation | T | C | p.K634E |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688166 | 60688166 | Missense_Mutation | G | T | p.S627R |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688166 | 60688166 | Missense_Mutation | G | T | p.S627R |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688166 | 60688166 | Missense_Mutation | G | T | p.S627R |
| KYSE30_OESOPHAGUS | 60687665 | 60689559 | 60688194 | 60688194 | Missense_Mutation | G | A | p.S618F |
| KYSE30_OESOPHAGUS | 60687817 | 60688879 | 60688194 | 60688194 | Missense_Mutation | G | A | p.S618F |
| KYSE30_OESOPHAGUS | 60687817 | 60689559 | 60688194 | 60688194 | Missense_Mutation | G | A | p.S618F |
| 451LU_SKIN | 60687665 | 60689559 | 60688206 | 60688206 | Missense_Mutation | G | A | p.S614L |
| 451LU_SKIN | 60687817 | 60688879 | 60688206 | 60688206 | Missense_Mutation | G | A | p.S614L |
| 451LU_SKIN | 60687817 | 60689559 | 60688206 | 60688206 | Missense_Mutation | G | A | p.S614L |
| EFO27_OVARY | 60687665 | 60689559 | 60688212 | 60688212 | Missense_Mutation | G | A | p.S612L |
| EFO27_OVARY | 60687817 | 60688879 | 60688212 | 60688212 | Missense_Mutation | G | A | p.S612L |
| EFO27_OVARY | 60687817 | 60689559 | 60688212 | 60688212 | Missense_Mutation | G | A | p.S612L |
| NB17_AUTONOMIC_GANGLIA | 60687665 | 60689559 | 60688212 | 60688212 | Missense_Mutation | G | A | p.S612L |
| NB17_AUTONOMIC_GANGLIA | 60687817 | 60688879 | 60688212 | 60688212 | Missense_Mutation | G | A | p.S612L |
| NB17_AUTONOMIC_GANGLIA | 60687817 | 60689559 | 60688212 | 60688212 | Missense_Mutation | G | A | p.S612L |
| NCIH2172_LUNG | 60687665 | 60689559 | 60688231 | 60688231 | Missense_Mutation | C | A | p.G606C |
| NCIH2172_LUNG | 60687817 | 60688879 | 60688231 | 60688231 | Missense_Mutation | C | A | p.G606C |
| NCIH2172_LUNG | 60687817 | 60689559 | 60688231 | 60688231 | Missense_Mutation | C | A | p.G606C |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 60687665 | 60689559 | 60688312 | 60688312 | Missense_Mutation | C | T | p.E579K |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 60687817 | 60688879 | 60688312 | 60688312 | Missense_Mutation | C | T | p.E579K |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 60687817 | 60689559 | 60688312 | 60688312 | Missense_Mutation | C | T | p.E579K |
| HEC6_ENDOMETRIUM | 60687665 | 60689559 | 60688329 | 60688329 | Missense_Mutation | C | T | p.G573D |
| HEC6_ENDOMETRIUM | 60687817 | 60688879 | 60688329 | 60688329 | Missense_Mutation | C | T | p.G573D |
| HEC6_ENDOMETRIUM | 60687817 | 60689559 | 60688329 | 60688329 | Missense_Mutation | C | T | p.G573D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688330 | 60688331 | Missense_Mutation | CG | TA | p.G573S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688330 | 60688331 | Missense_Mutation | CG | TA | p.G573S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688330 | 60688331 | Missense_Mutation | CG | TA | p.G573S |
| CP50MELB_SKIN | 60687665 | 60689559 | 60688386 | 60688386 | Missense_Mutation | G | A | p.S554F |
| CP50MELB_SKIN | 60687817 | 60688879 | 60688386 | 60688386 | Missense_Mutation | G | A | p.S554F |
| CP50MELB_SKIN | 60687817 | 60689559 | 60688386 | 60688386 | Missense_Mutation | G | A | p.S554F |
| SNU520_STOMACH | 60687665 | 60689559 | 60688426 | 60688426 | Missense_Mutation | G | A | p.R541C |
| SNU520_STOMACH | 60687817 | 60688879 | 60688426 | 60688426 | Missense_Mutation | G | A | p.R541C |
| SNU520_STOMACH | 60687817 | 60689559 | 60688426 | 60688426 | Missense_Mutation | G | A | p.R541C |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688429 | 60688429 | Missense_Mutation | T | C | p.S540G |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688429 | 60688429 | Missense_Mutation | T | C | p.S540G |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688429 | 60688429 | Missense_Mutation | T | C | p.S540G |
| SNU349_KIDNEY | 60687665 | 60689559 | 60688453 | 60688453 | Missense_Mutation | C | T | p.A532T |
| SNU349_KIDNEY | 60687817 | 60688879 | 60688453 | 60688453 | Missense_Mutation | C | T | p.A532T |
| SNU349_KIDNEY | 60687817 | 60689559 | 60688453 | 60688453 | Missense_Mutation | C | T | p.A532T |
| MEWO_SKIN | 60687665 | 60689559 | 60688464 | 60688464 | Missense_Mutation | C | T | p.S528N |
| MEWO_SKIN | 60687817 | 60688879 | 60688464 | 60688464 | Missense_Mutation | C | T | p.S528N |
| MEWO_SKIN | 60687817 | 60689559 | 60688464 | 60688464 | Missense_Mutation | C | T | p.S528N |
| HEC251_ENDOMETRIUM | 60687665 | 60689559 | 60688471 | 60688471 | Missense_Mutation | C | T | p.E526K |
| HEC251_ENDOMETRIUM | 60687817 | 60688879 | 60688471 | 60688471 | Missense_Mutation | C | T | p.E526K |
| HEC251_ENDOMETRIUM | 60687817 | 60689559 | 60688471 | 60688471 | Missense_Mutation | C | T | p.E526K |
| YMB1E_BREAST | 60687665 | 60689559 | 60688476 | 60688476 | Missense_Mutation | T | G | p.H524P |
| YMB1E_BREAST | 60687817 | 60688879 | 60688476 | 60688476 | Missense_Mutation | T | G | p.H524P |
| YMB1E_BREAST | 60687817 | 60689559 | 60688476 | 60688476 | Missense_Mutation | T | G | p.H524P |
| NCIH2803_PLEURA | 60687665 | 60689559 | 60688485 | 60688485 | Missense_Mutation | G | A | p.A521V |
| NCIH2803_PLEURA | 60687817 | 60688879 | 60688485 | 60688485 | Missense_Mutation | G | A | p.A521V |
| NCIH2803_PLEURA | 60687817 | 60689559 | 60688485 | 60688485 | Missense_Mutation | G | A | p.A521V |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688628 | 60688628 | Missense_Mutation | C | A | p.E473D |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688628 | 60688628 | Missense_Mutation | C | A | p.E473D |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688628 | 60688628 | Missense_Mutation | C | A | p.E473D |
| HS936T_SKIN | 60687665 | 60689559 | 60688645 | 60688645 | Missense_Mutation | C | T | p.A468T |
| HS936T_SKIN | 60687817 | 60688879 | 60688645 | 60688645 | Missense_Mutation | C | T | p.A468T |
| HS936T_SKIN | 60687817 | 60689559 | 60688645 | 60688645 | Missense_Mutation | C | T | p.A468T |
| MM370_SKIN | 60687665 | 60689559 | 60688653 | 60688653 | Missense_Mutation | G | A | p.S465F |
| MM370_SKIN | 60687817 | 60688879 | 60688653 | 60688653 | Missense_Mutation | G | A | p.S465F |
| MM370_SKIN | 60687817 | 60689559 | 60688653 | 60688653 | Missense_Mutation | G | A | p.S465F |
| HEC59_ENDOMETRIUM | 60687665 | 60689559 | 60688741 | 60688741 | Missense_Mutation | C | T | p.V436I |
| HEC59_ENDOMETRIUM | 60687817 | 60688879 | 60688741 | 60688741 | Missense_Mutation | C | T | p.V436I |
| HEC59_ENDOMETRIUM | 60687817 | 60689559 | 60688741 | 60688741 | Missense_Mutation | C | T | p.V436I |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688770 | 60688770 | Missense_Mutation | G | A | p.T426M |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688770 | 60688770 | Missense_Mutation | G | A | p.T426M |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688770 | 60688770 | Missense_Mutation | G | A | p.T426M |
| HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688770 | 60688770 | Missense_Mutation | G | A | p.T426M |
| HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688770 | 60688770 | Missense_Mutation | G | A | p.T426M |
| HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688770 | 60688770 | Missense_Mutation | G | A | p.T426M |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688790 | 60688790 | Missense_Mutation | C | G | p.K419N |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688790 | 60688790 | Missense_Mutation | C | G | p.K419N |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688790 | 60688790 | Missense_Mutation | C | G | p.K419N |
| HCT15_LARGE_INTESTINE | 60687665 | 60689559 | 60688810 | 60688810 | Missense_Mutation | C | T | p.A413T |
| HCT15_LARGE_INTESTINE | 60687817 | 60688879 | 60688810 | 60688810 | Missense_Mutation | C | T | p.A413T |
| HCT15_LARGE_INTESTINE | 60687817 | 60689559 | 60688810 | 60688810 | Missense_Mutation | C | T | p.A413T |
| NCIH650_LUNG | 60687665 | 60689559 | 60688870 | 60688870 | Missense_Mutation | C | A | p.V393L |
| NCIH650_LUNG | 60687817 | 60688879 | 60688870 | 60688870 | Missense_Mutation | C | A | p.V393L |
| NCIH650_LUNG | 60687817 | 60689559 | 60688870 | 60688870 | Missense_Mutation | C | A | p.V393L |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688879 | 60688879 | Missense_Mutation | T | G | p.S390R |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60688879 | 60688879 | 60688879 | Missense_Mutation | T | G | p.S390R |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688879 | 60688879 | Missense_Mutation | T | G | p.S390R |
| SNGM_ENDOMETRIUM | 60687665 | 60689559 | 60688902 | 60688902 | Missense_Mutation | C | T | p.C382Y |
| SNGM_ENDOMETRIUM | 60687817 | 60689559 | 60688902 | 60688902 | Missense_Mutation | C | T | p.C382Y |
| HEC1A_ENDOMETRIUM | 60687665 | 60689559 | 60688933 | 60688933 | Missense_Mutation | G | A | p.P372S |
| HEC1A_ENDOMETRIUM | 60687817 | 60689559 | 60688933 | 60688933 | Missense_Mutation | G | A | p.P372S |
| HEC1_ENDOMETRIUM | 60687665 | 60689559 | 60688933 | 60688933 | Missense_Mutation | G | A | p.P372S |
| HEC1_ENDOMETRIUM | 60687817 | 60689559 | 60688933 | 60688933 | Missense_Mutation | G | A | p.P372S |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688951 | 60688951 | Missense_Mutation | C | T | p.A366T |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688951 | 60688951 | Missense_Mutation | C | T | p.A366T |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60688957 | 60688957 | Missense_Mutation | G | T | p.Q364K |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60688957 | 60688957 | Missense_Mutation | G | T | p.Q364K |
| NCIH1876_LUNG | 60687665 | 60689559 | 60688975 | 60688975 | Missense_Mutation | G | A | p.P358S |
| NCIH1876_LUNG | 60687817 | 60689559 | 60688975 | 60688975 | Missense_Mutation | G | A | p.P358S |
| COLO679_SKIN | 60687665 | 60689559 | 60689009 | 60689009 | Missense_Mutation | G | C | p.F346L |
| COLO679_SKIN | 60687817 | 60689559 | 60689009 | 60689009 | Missense_Mutation | G | C | p.F346L |
| NCIH835_LUNG | 60687665 | 60689559 | 60689035 | 60689035 | Missense_Mutation | G | C | p.P338A |
| NCIH835_LUNG | 60687817 | 60689559 | 60689035 | 60689035 | Missense_Mutation | G | C | p.P338A |
| WM88_SKIN | 60687665 | 60689559 | 60689043 | 60689043 | Missense_Mutation | C | T | p.R335Q |
| WM88_SKIN | 60687817 | 60689559 | 60689043 | 60689043 | Missense_Mutation | C | T | p.R335Q |
| NCIH1930_LUNG | 60687665 | 60689559 | 60689088 | 60689088 | Missense_Mutation | C | T | p.R320K |
| NCIH1930_LUNG | 60687817 | 60689559 | 60689088 | 60689088 | Missense_Mutation | C | T | p.R320K |
| SNU81_LARGE_INTESTINE | 60687665 | 60689559 | 60689102 | 60689102 | Missense_Mutation | G | T | p.F315L |
| SNU81_LARGE_INTESTINE | 60687817 | 60689559 | 60689102 | 60689102 | Missense_Mutation | G | T | p.F315L |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60689142 | 60689142 | Missense_Mutation | C | T | p.R302Q |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60689142 | 60689142 | Missense_Mutation | C | T | p.R302Q |
| NCIH513_PLEURA | 60687665 | 60689559 | 60689166 | 60689166 | Missense_Mutation | G | T | p.P294Q |
| NCIH513_PLEURA | 60687817 | 60689559 | 60689166 | 60689166 | Missense_Mutation | G | T | p.P294Q |
| CP66MEL_SKIN | 60687665 | 60689559 | 60689245 | 60689245 | Missense_Mutation | G | A | p.P268S |
| CP66MEL_SKIN | 60687817 | 60689559 | 60689245 | 60689245 | Missense_Mutation | G | A | p.P268S |
| DOV13_OVARY | 60687665 | 60689559 | 60689262 | 60689262 | Missense_Mutation | G | A | p.T262I |
| DOV13_OVARY | 60687817 | 60689559 | 60689262 | 60689262 | Missense_Mutation | G | A | p.T262I |
| HCT116_LARGE_INTESTINE | 60687665 | 60689559 | 60689275 | 60689275 | Missense_Mutation | G | A | p.R258C |
| HCT116_LARGE_INTESTINE | 60687817 | 60689559 | 60689275 | 60689275 | Missense_Mutation | G | A | p.R258C |
| HCC78_LUNG | 60687665 | 60689559 | 60689290 | 60689290 | Missense_Mutation | C | T | p.G253S |
| HCC78_LUNG | 60687817 | 60689559 | 60689290 | 60689290 | Missense_Mutation | C | T | p.G253S |
| TE9_OESOPHAGUS | 60687665 | 60689559 | 60689304 | 60689304 | Missense_Mutation | G | A | p.S248L |
| TE9_OESOPHAGUS | 60687817 | 60689559 | 60689304 | 60689304 | Missense_Mutation | G | A | p.S248L |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60689341 | 60689341 | Missense_Mutation | T | C | p.N236D |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60689341 | 60689341 | Missense_Mutation | T | C | p.N236D |
| NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60689419 | 60689419 | Missense_Mutation | G | A | p.R210W |
| NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60689419 | 60689419 | Missense_Mutation | G | A | p.R210W |
| NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60689417 | 60689559 | 60689419 | 60689419 | Missense_Mutation | G | A | p.R210W |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687665 | 60689559 | 60689467 | 60689467 | Missense_Mutation | C | T | p.G194R |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60687817 | 60689559 | 60689467 | 60689467 | Missense_Mutation | C | T | p.G194R |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60689417 | 60689559 | 60689467 | 60689467 | Missense_Mutation | C | T | p.G194R |
| HEMCSS_BONE | 60695867 | 60695968 | 60695873 | 60695873 | Missense_Mutation | C | A | p.G161C |
| LS180_LARGE_INTESTINE | 60695867 | 60695968 | 60695878 | 60695878 | Missense_Mutation | G | A | p.P159L |
| HEC59_ENDOMETRIUM | 60695867 | 60695968 | 60695927 | 60695927 | Missense_Mutation | C | T | p.A143T |
| HUPT4_PANCREAS | 60695867 | 60695968 | 60695927 | 60695927 | Missense_Mutation | C | T | p.A143T |
| KYSE220_OESOPHAGUS | 60695867 | 60695968 | 60695927 | 60695927 | Missense_Mutation | C | T | p.A143T |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60695867 | 60695968 | 60695927 | 60695927 | Missense_Mutation | C | T | p.A143T |
| HCC2218_BREAST | 60695867 | 60695968 | 60695929 | 60695929 | Missense_Mutation | G | A | p.S142F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCL11A |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCL11A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCL11A |
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RelatedDrugs for BCL11A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BCL11A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BCL11A | C0003635 | Apraxias | 1 | CTD_human |
| BCL11A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| BCL11A | C0023014 | Language Development Disorders | 1 | CTD_human |
| BCL11A | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| BCL11A | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| BCL11A | C0036341 | Schizophrenia | 1 | PSYGENET |
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