AICDA.md
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+# [AICDA]
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+
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+## Mutation tier
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+
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+|Entity|Tier|Description |
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+|:------:|:----:|-----------------------------------------|
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+|DLBCL |2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
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+## Mutation incidence
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+
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+|Entity|source |frequency (%)|
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+|:------:|:--------------:|:-------------:|
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+|DLBCL |GAMBL genomes |0.38 |
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+|DLBCL |Schmitz cohort|0.43 |
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+|DLBCL |Reddy cohort |0.30 |
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+|DLBCL |Chapuy cohort |0.43 |
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+
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+## Mutation pattern
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+
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+|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)|
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+|:------:|:----:|:---------------------:|:----------------:|:----------------:|
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+|BL |Yes |No |2.589 |0 |
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+|DLBCL |Yes |No |2.652 |0 |
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+|FL |Yes |No |4.955 |0 |
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+
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+## aSHM regions
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+
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+|chr_name|hg19_start|hg19_end|region |regulatory_comment|
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+|:--------:|:----------:|:--------:|:----------------------------------------------------------------------------------------:|:------------------:|
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+|chr12 |8762328 |8765099 |[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr12%3A8762328%2D8765099)|NA |
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+
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+> [!NOTE]
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+> First described in DLBCL in 2018 by [Arthur SE](https://pubmed.ncbi.nlm.nih.gov/30275490)
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+
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+
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+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/AICDA_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/AICDA_protein_hg38.html)
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+
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+![image](images/proteinpaint/AICDA_NM_020661.svg)
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+
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+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/AICDA.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/AICDA_hg38.html)
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+
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+![image](images/proteinpaint/AICDA.svg)
ANK2.md
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+# [ANK2]
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+
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+## Mutation tier
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+
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+|Entity|Tier|Description |
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+|:------:|:----:|---------------------------------------|
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+|MCL |2 |relevance in MCL not firmly established|
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+## Mutation incidence
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+
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+|Entity|source |frequency (%)|
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+|:------:|:-------------:|:-------------:|
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+|MCL |GAMBL genomes|1.9 |
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+
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+## Mutation pattern
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+
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+|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)|
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+|:------:|:----:|:---------------------:|:----------------:|:----------------:|
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+|BL |No |No |1.169 |1.1 |
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+|DLBCL |No |No |0.393 |0.0 |
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+|FL |No |No |0.340 |0.0 |
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+
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+
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+> [!NOTE]
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+> First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267)
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+
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+
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+View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANK2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANK2_protein_hg38.html)
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+
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+![image](images/proteinpaint/ANK2_NM_001148.svg)
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+
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+View all variants in GenomePaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANK2.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANK2_hg38.html)
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+
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+![image](images/proteinpaint/ANK2.svg)
ANKRD12.md
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|Entity|source |frequency (%)|
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|:------:|:--------------:|:-------------:|
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|DLBCL |GAMBL genomes |2.29 |
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-|DLBCL |Schmitz cohort| NA |
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-|DLBCL |Reddy cohort | NA |
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-|DLBCL |Chapuy cohort | NA |
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+|DLBCL |Schmitz cohort|6.17 |
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+|DLBCL |Reddy cohort |2.10 |
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+|DLBCL |Chapuy cohort |5.13 |
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## Mutation pattern
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> [!NOTE]
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+> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
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+
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+
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View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANKRD12_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ANKRD12_protein_hg38.html)
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![image](images/proteinpaint/ANKRD12_NM_015208.svg)
ANKRD17.md
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|Entity|source |frequency (%)|
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|:------:|:--------------:|:-------------:|
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|DLBCL |GAMBL genomes |2.68 |
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-|DLBCL |Schmitz cohort|4.30 |
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+|DLBCL |Schmitz cohort|4.26 |
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|DLBCL |Reddy cohort |3.80 |
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-|DLBCL |Chapuy cohort |2.10 |
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+|DLBCL |Chapuy cohort |2.14 |
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## Mutation pattern
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ARID1A.md
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# [ARID1A]
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-ARID1A (AT-rich interactive domain-containing protein 1A) is a gene that encodes a subunit of the SWI/SNF chromatin remodeling complex, which is involved in regulating DNA accessibility. Mutations in ARID1A are implicated in various cancers, including B-cell lymphomas. They are the most abundant in Burkitt lymphoma but also occur in FL and, to a lesser extent, DLBCL.
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-
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## Mutation tier
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|Entity|Tier|Description |
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|BL |Thomas cohort |36.00 |
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|BL |Panea cohort |19.80 |
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|DLBCL |GAMBL genomes | 8.80 |
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-|DLBCL |Schmitz cohort | 8.90 |
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+|DLBCL |Schmitz cohort | 8.94 |
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|DLBCL |Reddy cohort | 4.40 |
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-|DLBCL |Chapuy cohort | 4.30 |
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+|DLBCL |Chapuy cohort | 4.27 |
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|FL |GAMBL genomes |12.47 |
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## Mutation pattern
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> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937)
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- ## ARID1A Hotspots
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-
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-| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
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- | :---:| :---: | :--: | :---: |
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-| chr1 | 27023114 | C>T | Q74* |
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-| chr1 | 27023420 | C>T | Q176* |
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-| chr1 | 27023423 | C>T | Q177* |
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-| chr1 | 27023429 | C>T | P179S |
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-| chr1 | 27023447 | C>T | Q185* |
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-| chr1 | 27100207 | C>T | R1335* |
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-| chr1 | 27100315 | T>C | F1343L |
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-| chr1 | 27106354 | C>T | R1989* |
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-| chr1 | 27106363 | T>C | S1992P |
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-
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View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ARID1A_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ARID1A_protein_hg38.html)
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![image](images/proteinpaint/ARID1A_NM_006015.svg)