diff --git a/resources/curated/bl_genes.tsv b/resources/curated/bl_genes.tsv index 240a36fb..3eef3590 100644 --- a/resources/curated/bl_genes.tsv +++ b/resources/curated/bl_genes.tsv @@ -1,35 +1,35 @@ Gene Tier aSHM QC Mean Variant Quality citekey PMID MutationEffect Mutation-PMID Additional_Support -ARID1A 1 loveGeneticLandscapeMutations2012 23143597 LOF 38458187 -BACH2 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 -BCL6 1 TRUE PASS 4 loveGeneticLandscapeMutations2012 30617194 LOF 12504096 -BCL7A 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 LOF 32576963 -BMP7 1 paneaWholeGenomeLandscape2019 31558468 -CCND3 1 richterRecurrentMutationID32012 23143595 GOF 22885699 -CHD8 1 grandeGenomewideDiscoverySomatic2019 36201743 -CREBBP 1 PASS 4 loveGeneticLandscapeMutations2012 23143597 LOF 33431788 -DDX3X 1 schmitzBurkittLymphomaPathogenesis2012 22885699 LOF 34437837 -FBXO11 1 richterRecurrentMutationID32012 23143595 LOF 22113614 -FOXO1 1 schmitzBurkittLymphomaPathogenesis2012 22885699 GOF 23460611 -GNA13 1 loveGeneticLandscapeMutations2012 23143597 LOF 26616858 -GNAI2 1 grandeGenomewideDiscoverySomatic2019 30617194 -HIST1H1E 1 TRUE grandeGenomewideDiscoverySomatic2019 31558468 -HNRNPU 1 TRUE paneaWholeGenomeLandscape2019 31558468 -ID3 1 richterRecurrentMutationID32012 23143595 -KMT2D 1 grandeGenomewideDiscoverySomatic2019 30617194 LOF 26366712 -MYC 1 TRUE johnstonCmycHypermutationBurkitt1992 1297477 GOF 38565249 -P2RY8 1 muppidiLossSignalingGa132014 25274307 LOF 25274307 -PCBP1 1 schmitzBurkittLymphomaPathogenesis2012 22885699 +ARID1A 1 loveGeneticLandscapeMutations2012 23143597 LOF 38458187 giulino-rothTargetedGenomicSequencing2012 +BACH2 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 LOF 26522720 paneaWholeGenomeLandscape2019 +BCL6 1 TRUE PASS 4 loveGeneticLandscapeMutations2012 30617194 LOF 12504096 grandeGenomewideDiscoverySomatic2019 +BCL7A 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 LOF 32576963 thomasGeneticSubgroupsInform2023 +BMP7 1 paneaWholeGenomeLandscape2019 31558468 thomasGeneticSubgroupsInform2023 +CCND3 1 richterRecurrentMutationID32012 23143595 GOF 22885699 abateDistinctViralMutational2015 +CHD8 1 grandeGenomewideDiscoverySomatic2019 36201743 paneaWholeGenomeLandscape2019 +CREBBP 1 PASS 4 loveGeneticLandscapeMutations2012 23143597 LOF 33431788 grandeGenomewideDiscoverySomatic2019 +DDX3X 1 schmitzBurkittLymphomaPathogenesis2012 22885699 LOF 34437837 abateDistinctViralMutational2015 +FBXO11 1 richterRecurrentMutationID32012 23143595 LOF 22113614 grandeGenomewideDiscoverySomatic2019 +FOXO1 1 schmitzBurkittLymphomaPathogenesis2012 22885699 GOF 23460611 grandeGenomewideDiscoverySomatic2019 +GNA13 1 schmitzBurkittLymphomaPathogenesis2012 22885699 LOF 26616858 loveGeneticLandscapeMutations2012 +GNAI2 1 grandeGenomewideDiscoverySomatic2019 30617194 thomasGeneticSubgroupsInform2023 +HIST1H1E 1 TRUE grandeGenomewideDiscoverySomatic2019 31558468 paneaWholeGenomeLandscape2019 +HNRNPU 1 TRUE paneaWholeGenomeLandscape2019 31558468 thomasGeneticSubgroupsInform2023 +ID3 1 richterRecurrentMutationID32012 23143595 loveGeneticLandscapeMutations2012 +KMT2D 1 grandeGenomewideDiscoverySomatic2019 30617194 LOF 26366712 paneaWholeGenomeLandscape2019 +MYC 1 TRUE johnstonCmycHypermutationBurkitt1992 1297477 GOF 38565249 loveGeneticLandscapeMutations2012 +P2RY8 1 muppidiLossSignalingGa132014 25274307 LOF 25274307 grandeGenomewideDiscoverySomatic2019 +PCBP1 1 schmitzBurkittLymphomaPathogenesis2012 22885699 wagenerPCBP1GeneEncoding2015 PHF6 1 thomasGeneticSubgroupsInform2023 36201743 zhouSporadicEndemicBurkitt2019 -PTEN 1 loveGeneticLandscapeMutations2012 23143597 LOF 23840064 -RFX7 1 grandeGenomewideDiscoverySomatic2019 30617194 LOF 30926791 -RHOA 1 richterRecurrentMutationID32012 23143595 LOF 26616858 -SIN3A 1 grandeGenomewideDiscoverySomatic2019 30617194 -SMARCA4 1 richterRecurrentMutationID32012 23143595 LOF 33144586 -TCF3 1 schmitzBurkittLymphomaPathogenesis2012 22885699 GOF 22885699 -TCL1A 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 -TFAP4 1 grandeGenomewideDiscoverySomatic2019 30617194 LOF 34283887 -TP53 1 wildaInactivationARFMDM2p53Pathway2004 14712292 LOF 12826609 -USP7 1 grandeGenomewideDiscoverySomatic2019 30617194 +PTEN 1 loveGeneticLandscapeMutations2012 23143597 LOF 23840064 paneaWholeGenomeLandscape2019 +RFX7 1 grandeGenomewideDiscoverySomatic2019 30617194 LOF 30926791 paneaWholeGenomeLandscape2019 +RHOA 1 richterRecurrentMutationID32012 23143595 LOF 26616858 grandeGenomewideDiscoverySomatic2019 +SIN3A 1 grandeGenomewideDiscoverySomatic2019 30617194 paneaWholeGenomeLandscape2019 +SMARCA4 1 richterRecurrentMutationID32012 23143595 LOF 33144586 grandeGenomewideDiscoverySomatic2019 +TCF3 1 schmitzBurkittLymphomaPathogenesis2012 22885699 GOF 22885699 abateDistinctViralMutational2015 +TCL1A 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 thomasGeneticSubgroupsInform2023 +TFAP4 1 grandeGenomewideDiscoverySomatic2019 30617194 LOF 34283887 paneaWholeGenomeLandscape2019 +TP53 1 wildaInactivationARFMDM2p53Pathway2004 14712292 LOF 12826609 schmitzBurkittLymphomaPathogenesis2012 +USP7 1 grandeGenomewideDiscoverySomatic2019 30617194 paneaWholeGenomeLandscape2019 WNK1 1 thomasGeneticSubgroupsInform2023 36201743 paneaWholeGenomeLandscape2019 TBL1XR1 2 maSubtypespecificCooccurringGenetic2022 33792219 B2M 2 maSubtypespecificCooccurringGenetic2022 33792219 @@ -71,7 +71,7 @@ HIST1H3D 2 TRUE PASS 3 paneaWholeGenomeLandscape2019 31558468 HIST1H3I 2 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 HIST1H4J 2 TRUE PASS 3 paneaWholeGenomeLandscape2019 31558468 HLA-DQB1 2 burkhardtClinicalRelevanceMolecular2022 35794096 -IGLL5 2 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 +IGLL5 1 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 thomasGeneticSubgroupsInform2023 IKZF3 2 TRUE PASS 3 paneaWholeGenomeLandscape2019 31558468 IRF8 2 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 KANK2 2 schmitzBurkittLymphomaPathogenesis2012 22885699