diff --git a/resources/curated/bl_genes.tsv b/resources/curated/bl_genes.tsv index 3196fade..09215cf5 100644 --- a/resources/curated/bl_genes.tsv +++ b/resources/curated/bl_genes.tsv @@ -1,182 +1,175 @@ -Gene earliest_support_BL type Tier citekey QC -ACAD9 23143597 2 loveGeneticLandscapeMutations2012 FAIL -ACE 23143597 2 loveGeneticLandscapeMutations2012 FAIL -ADAMTS5 35794096 2 burkhardtClinicalRelevanceMolecular2022b -ADNP 35794096 2 burkhardtClinicalRelevanceMolecular2022b -AGO4 35794096 2 burkhardtClinicalRelevanceMolecular2022b -ALPK2 31558468 2 paneaWholeGenomeLandscape2019 FAIL -ARHGEF1 25274307 2 muppidiLossSignalingGa132014b -ARID1A 23143597 1 loveGeneticLandscapeMutations2012 -ATP2C2 23143597 2 loveGeneticLandscapeMutations2012 FAIL -BACH2 30617194 a 2 grandeGenomewideDiscoverySomatic2019 -BCL2 35794096 a 2 burkhardtClinicalRelevanceMolecular2022b -BCL6 30617194 a 2 loveGeneticLandscapeMutations2012 PASS -BCL7A 30617194 a 1 grandeGenomewideDiscoverySomatic2019 -BMP7 31558468 1 paneaWholeGenomeLandscape2019 -BRAF 23143597 2 loveGeneticLandscapeMutations2012 FAIL -BRD4 23143597 2 loveGeneticLandscapeMutations2012 FAIL -BTG1 35794096 a 2 burkhardtClinicalRelevanceMolecular2022b -BTG2 31558468 a 2 loveGeneticLandscapeMutations2012 FAIL -C16orf48 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -C6orf27 23143597 2 loveGeneticLandscapeMutations2012 FAIL -CAD 23143597 2 loveGeneticLandscapeMutations2012 FAIL -CARD4 23143597 2 loveGeneticLandscapeMutations2012 PASS -CARD11 31558468 2 paneaWholeGenomeLandscape2019 -CCND3 23143595 1 richterRecurrentMutationID32012a -CCNF 26468873 2 abateDistinctViralMutational2015a -CCT6B 23143597 2 loveGeneticLandscapeMutations2012 FAIL -CD79A 35794096 2 burkhardtClinicalRelevanceMolecular2022b -CD79B 31558468 2 paneaWholeGenomeLandscape2019 FAIL -CD83 31558468 a 2 paneaWholeGenomeLandscape2019 PASS -CDC73 23143597 2 loveGeneticLandscapeMutations2012 PASS -CDH17 23143597 2 loveGeneticLandscapeMutations2012 FAIL -CDKN2A 30617194 2 grandeGenomewideDiscoverySomatic2019 -CDKN2C 36201743 2 thomasGeneticSubgroupsInform2023 -CHD4 35794096 2 burkhardtClinicalRelevanceMolecular2022b -CHD8 36201743 1 grandeGenomewideDiscoverySomatic2019 -COL4A2 23143597 2 loveGeneticLandscapeMutations2012 FAIL -CPXM2 35794096 2 burkhardtClinicalRelevanceMolecular2022b -CREBBP 23143597 2 loveGeneticLandscapeMutations2012 PASS -CTCF 31558468 2 paneaWholeGenomeLandscape2019 FAIL -CXCR4 31558468 a 2 paneaWholeGenomeLandscape2019 PASS -CYB5D1 23143597 2 loveGeneticLandscapeMutations2012 FAIL -CYP4F22 23143597 2 loveGeneticLandscapeMutations2012 FAIL -DDX3X 22885699 1 schmitzBurkittLymphomaPathogenesis2012 -DHCR7 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -DLGAP1 23143597 2 loveGeneticLandscapeMutations2012 FAIL -DNMT1 31558468 2 paneaWholeGenomeLandscape2019 FAIL -DTX1 31558468 a 2 loveGeneticLandscapeMutations2012 FAIL -E2F2 35794096 2 burkhardtClinicalRelevanceMolecular2022b -EBF1 NA a 2 thomasGeneticSubgroupsInform2023 -EDNRB 35794096 2 burkhardtClinicalRelevanceMolecular2022b -EHD1 NA 2 thomasGeneticSubgroupsInform2023 -EIF2C4 23143597 2 loveGeneticLandscapeMutations2012 FAIL -EIF4A1 31558468 1 paneaWholeGenomeLandscape2019 -ELP2 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -EML2 23143597 2 loveGeneticLandscapeMutations2012 FAIL -ENTPD3 23143597 2 loveGeneticLandscapeMutations2012 FAIL -EP300 NA 2 paneaWholeGenomeLandscape2019 -EPHB2 23143597 2 loveGeneticLandscapeMutations2012 FAIL -EPPK1 31558468 1 paneaWholeGenomeLandscape2019 -ERAP1 35794096 2 burkhardtClinicalRelevanceMolecular2022b -ETS1 31558468 a 2 paneaWholeGenomeLandscape2019 FAIL -EXOSC6 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -EZH2 23143597 2 loveGeneticLandscapeMutations2012 PASS -FAM129B 23143597 2 loveGeneticLandscapeMutations2012 FAIL -FBXO11 23143595 1 richterRecurrentMutationID32012a -FGFR3 23143597 2 loveGeneticLandscapeMutations2012 FAIL -FLYWCH1 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -FOXO1 22885699 1 schmitzBurkittLymphomaPathogenesis2012 -FTCD 23143597 2 loveGeneticLandscapeMutations2012 FAIL -FZD3 31558468 2 paneaWholeGenomeLandscape2019 FAIL -GGTLA4 23143597 2 loveGeneticLandscapeMutations2012 PASS -GNA13 23143597 1 loveGeneticLandscapeMutations2012 -GNAI2 30617194 1 grandeGenomewideDiscoverySomatic2019 -GRB2 31558468 2 paneaWholeGenomeLandscape2019 -GRIK5 23143597 2 loveGeneticLandscapeMutations2012 FAIL -GTSE1 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -HIST1H1C 31558468 a 2 paneaWholeGenomeLandscape2019 FAIL -HIST1H1E 31558468 a 2 grandeGenomewideDiscoverySomatic2019 -HIST1H2AG 31558468 a 2 paneaWholeGenomeLandscape2019 FAIL -HIST1H2AM 31558468 a 2 paneaWholeGenomeLandscape2019 FAIL -IGLL5 NA a 2 paneaWholeGenomeLandscape2019 PASS -HIST1H2BK 31558468 a 2 paneaWholeGenomeLandscape2019 FAIL -HIST1H3D 31558468 a 2 paneaWholeGenomeLandscape2019 PASS -HIST1H3H 31558468 a 2 paneaWholeGenomeLandscape2019 FAIL -HIST1H3I 31558468 a 2 paneaWholeGenomeLandscape2019 PASS -HIST1H3J 31558468 a 2 paneaWholeGenomeLandscape2019 FAIL -HIST1H4J 31558468 a 2 paneaWholeGenomeLandscape2019 PASS -HLA-DQB1 35794096 2 burkhardtClinicalRelevanceMolecular2022b -HNRNPU 31558468 a 1 paneaWholeGenomeLandscape2019 -ICK 23143597 2 loveGeneticLandscapeMutations2012 FAIL -ID3 23143595 1 richterRecurrentMutationID32012a -IRF8 31558468 a 2 paneaWholeGenomeLandscape2019 PASS -IKZF3 31558468 a 2 paneaWholeGenomeLandscape2019 PASS -ITPR3 23143597 2 loveGeneticLandscapeMutations2012 FAIL -KANK2 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -KCNK10 31558468 2 paneaWholeGenomeLandscape2019 FAIL -KIFC3 23143597 2 loveGeneticLandscapeMutations2012 FAIL -KLHL26 35794096 2 burkhardtClinicalRelevanceMolecular2022b -KLHL6 NA a 2 paneaWholeGenomeLandscape2019 -KMT2C 31300419 2 zhouSporadicEndemicBurkitt2019 -KMT2D 30617194 1 grandeGenomewideDiscoverySomatic2019 -LTB NA a 2 paneaWholeGenomeLandscape2019 -MAP3K6 23143597 2 loveGeneticLandscapeMutations2012 FAIL -MCL1 31558468 2 paneaWholeGenomeLandscape2019 PASS -MIR142 30617194 a 2 grandeGenomewideDiscoverySomatic2019 -MKI67 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -MME 31558468 2 paneaWholeGenomeLandscape2019 FAIL -MTOR 31558468 2 paneaWholeGenomeLandscape2019 FAIL -MYC 1297477 a 1 johnstonCmycHypermutationBurkitt1992 -MYH10 23143597 2 loveGeneticLandscapeMutations2012 FAIL -MYO18A 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -NBEAL1 23143597 2 loveGeneticLandscapeMutations2012 PASS -NCOR2 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -NOA1 35794096 2 burkhardtClinicalRelevanceMolecular2022b -NOTCH1 23143597 2 loveGeneticLandscapeMutations2012 FAIL -NOTCH2 31558468 2 paneaWholeGenomeLandscape2019 -NRXN2 23143597 2 loveGeneticLandscapeMutations2012 FAIL -P2RY2 23143597 2 loveGeneticLandscapeMutations2012 PASS -P2RY8 25274307 1 muppidiLossSignalingGa132014b -PABPC4L 31558468 2 paneaWholeGenomeLandscape2019 FAIL -PC 23143597 2 loveGeneticLandscapeMutations2012 FAIL -PCBP1 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -PCDHA11 31558468 2 paneaWholeGenomeLandscape2019 FAIL -PDCD11 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -PDZRN3 31558468 2 paneaWholeGenomeLandscape2019 FAIL -PHF6 36201743 1 thomasGeneticSubgroupsInform2023 -PIK3R1 31558468 2 paneaWholeGenomeLandscape2019 FAIL -PIM1 35794096 a 2 burkhardtClinicalRelevanceMolecular2022b -PLCG2 31558468 2 paneaWholeGenomeLandscape2019 PASS -POLRMT 23143597 2 loveGeneticLandscapeMutations2012 FAIL -POR 23143597 2 loveGeneticLandscapeMutations2012 FAIL -PPP6R2 35794096 2 burkhardtClinicalRelevanceMolecular2022b -PREX1 35794096 2 burkhardtClinicalRelevanceMolecular2022b -PRSS22 23143597 2 loveGeneticLandscapeMutations2012 FAIL -PTEN 23143597 1 loveGeneticLandscapeMutations2012 -PTPRN 23143597 2 loveGeneticLandscapeMutations2012 FAIL -PXDNL 31558468 2 paneaWholeGenomeLandscape2019 FAIL -RAC2 31558468 2 paneaWholeGenomeLandscape2019 -RANBP6 23143597 2 loveGeneticLandscapeMutations2012 PASS -RBP3 23143597 2 loveGeneticLandscapeMutations2012 FAIL -RET 23143597 2 loveGeneticLandscapeMutations2012 FAIL -REV3L 35794096 2 burkhardtClinicalRelevanceMolecular2022b -RFX7 30617194 1 grandeGenomewideDiscoverySomatic2019 -RHOA 23143595 1 richterRecurrentMutationID32012a -RNF144B 31558468 2 paneaWholeGenomeLandscape2019 PASS -RPL10 35794096 2 burkhardtClinicalRelevanceMolecular2022b -S1PR2 25274307 a 2 muppidiLossSignalingGa132014b -SAL3 35794096 2 burkhardtClinicalRelevanceMolecular2022b -SALL3 23143597 2 loveGeneticLandscapeMutations2012 FAIL -SAPS2 23143597 2 loveGeneticLandscapeMutations2012 FAIL -SBF1 23143597 2 loveGeneticLandscapeMutations2012 FAIL -SF3B1 23143597 2 loveGeneticLandscapeMutations2012 FAIL -SHANK1 23143597 2 loveGeneticLandscapeMutations2012 FAIL -SIN3A 30617194 1 grandeGenomewideDiscoverySomatic2019 -SLC29A2 23143597 2 loveGeneticLandscapeMutations2012 FAIL -SMARCA4 23143595 1 richterRecurrentMutationID32012a -SNTB2 31558468 2 paneaWholeGenomeLandscape2019 FAIL -SYNGAP1 23143597 2 loveGeneticLandscapeMutations2012 FAIL -TBC1D9B 23143597 2 loveGeneticLandscapeMutations2012 FAIL -TCF3 22885699 1 schmitzBurkittLymphomaPathogenesis2012 -TCL1A 30617194 a 1 grandeGenomewideDiscoverySomatic2019 -TET2 31558468 2 paneaWholeGenomeLandscape2019 -TFAP4 30617194 1 grandeGenomewideDiscoverySomatic2019 -TIGD6 23143597 2 loveGeneticLandscapeMutations2012 FAIL -TOP2A 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -TP53 14712292 1 wildaInactivationARFMDM2p53Pathway2004 -TPST2 23143597 2 loveGeneticLandscapeMutations2012 FAIL -TTN 35794096 2 burkhardtClinicalRelevanceMolecular2022b -USP7 30617194 1 grandeGenomewideDiscoverySomatic2019 -VWA7 35794096 2 burkhardtClinicalRelevanceMolecular2022b -WDR7 31558468 2 paneaWholeGenomeLandscape2019 FAIL -WDR90 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -WHAMM 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -WNK1 36201743 1 thomasGeneticSubgroupsInform2023 -WNK2 31558468 2 paneaWholeGenomeLandscape2019 PASS -YY1AP1 22885699 2 schmitzBurkittLymphomaPathogenesis2012 -ZAN 35794096 2 burkhardtClinicalRelevanceMolecular2022b -ZBTB7A 35794096 2 burkhardtClinicalRelevanceMolecular2022b -ZNF229 23143597 2 loveGeneticLandscapeMutations2012 FAIL -ZNF85 35794096 2 burkhardtClinicalRelevanceMolecular2022b -ZFP36L1 31558468 a 2 paneaWholeGenomeLandscape2019 PASS +Gene Tier aSHM QC Mean Variant Quality citekey PMID +ACAD9 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +ACE 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +ADAMTS5 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +ADNP 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +AGO4 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +ALPK2 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +ARHGEF1 2 muppidiLossSignalingGa132014b 25274307 +ARID1A 1 loveGeneticLandscapeMutations2012 23143597 +ATP2C2 3 FAIL 2 loveGeneticLandscapeMutations2012 23143597 +BACH2 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 +BCL2 2 TRUE burkhardtClinicalRelevanceMolecular2022b 35794096 +BCL6 2 TRUE PASS 4 loveGeneticLandscapeMutations2012 30617194 +BCL7A 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 +BMP7 1 paneaWholeGenomeLandscape2019 31558468 +BRAF 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +BRD4 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +BTG1 2 TRUE burkhardtClinicalRelevanceMolecular2022b 35794096 +BTG2 3 TRUE FAIL 1 loveGeneticLandscapeMutations2012 31558468 +C16orf48 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +C6orf27 3 FAIL Germline loveGeneticLandscapeMutations2012 23143597 +CAD 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +CARD4 2 PASS 4 loveGeneticLandscapeMutations2012 23143597 +CCND3 1 richterRecurrentMutationID32012a 23143595 +CCNF 2 abateDistinctViralMutational2015a 26468873 +CCT6B 3 FAIL Germline loveGeneticLandscapeMutations2012 23143597 +CD79A 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +CD79B 3 FAIL 2 paneaWholeGenomeLandscape2019 31558468 +CD83 2 TRUE PASS 3 paneaWholeGenomeLandscape2019 31558468 +CDC73 2 PASS 3 loveGeneticLandscapeMutations2012 23143597 +CDH17 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +CDKN2A 2 grandeGenomewideDiscoverySomatic2019 30617194 +CDKN2C 2 thomasGeneticSubgroupsInform2023 36201743 +CHD4 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +CHD8 1 grandeGenomewideDiscoverySomatic2019 36201743 +COL4A2 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +CPXM2 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +CREBBP 2 PASS 4 loveGeneticLandscapeMutations2012 23143597 +CTCF 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +CXCR4 2 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 +CYB5D1 3 FAIL 2 loveGeneticLandscapeMutations2012 23143597 +CYP4F22 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +DDX3X 1 schmitzBurkittLymphomaPathogenesis2012 22885699 +DHCR7 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +DLGAP1 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +DNMT1 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +DTX1 3 TRUE FAIL 1 loveGeneticLandscapeMutations2012 31558468 +E2F2 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +EBF1 2 TRUE thomasGeneticSubgroupsInform2023 NA +EDNRB 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +EHD1 2 thomasGeneticSubgroupsInform2023 NA +EIF2C4 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +EIF4A1 2 paneaWholeGenomeLandscape2019 31558468 +ELP2 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +EML2 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +ENTPD3 3 FAIL 2 loveGeneticLandscapeMutations2012 23143597 +EPHB2 3 FAIL 2 loveGeneticLandscapeMutations2012 23143597 +EPPK1 2 paneaWholeGenomeLandscape2019 31558468 +ERAP1 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +ETS1 3 TRUE FAIL 1 paneaWholeGenomeLandscape2019 31558468 +EXOSC6 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +EZH2 2 PASS 5 loveGeneticLandscapeMutations2012 23143597 +FAM129B 3 FAIL 2 loveGeneticLandscapeMutations2012 23143597 +FBXO11 1 richterRecurrentMutationID32012a 23143595 +FGFR3 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +FLYWCH1 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +FOXO1 1 schmitzBurkittLymphomaPathogenesis2012 22885699 +FTCD 3 FAIL Germline loveGeneticLandscapeMutations2012 23143597 +FZD3 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +GGTLA4 2 PASS 4 loveGeneticLandscapeMutations2012 23143597 +GNA13 1 loveGeneticLandscapeMutations2012 23143597 +GNAI2 1 grandeGenomewideDiscoverySomatic2019 30617194 +GRIK5 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +GTSE1 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +HIST1H1C 3 TRUE FAIL 2 paneaWholeGenomeLandscape2019 31558468 +HIST1H1E 2 TRUE grandeGenomewideDiscoverySomatic2019 31558468 +HIST1H2AG 3 TRUE FAIL 2 paneaWholeGenomeLandscape2019 31558468 +HIST1H2AM 3 TRUE FAIL 0 paneaWholeGenomeLandscape2019 31558468 +HIST1H2BK 3 TRUE FAIL 1 paneaWholeGenomeLandscape2019 31558468 +HIST1H3D 2 TRUE PASS 3 paneaWholeGenomeLandscape2019 31558468 +HIST1H3H 3 TRUE FAIL 0 paneaWholeGenomeLandscape2019 31558468 +HIST1H3I 2 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 +HIST1H3J 3 TRUE FAIL 0 paneaWholeGenomeLandscape2019 31558468 +HIST1H4J 2 TRUE PASS 3 paneaWholeGenomeLandscape2019 31558468 +HLA-DQB1 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +HNRNPU 1 TRUE paneaWholeGenomeLandscape2019 31558468 +ICK 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +ID3 1 richterRecurrentMutationID32012a 23143595 +IGLL5 2 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 +IKZF3 2 TRUE PASS 3 paneaWholeGenomeLandscape2019 31558468 +IRF8 2 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 +ITPR3 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +KANK2 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +KCNK10 3 FAIL 2 paneaWholeGenomeLandscape2019 31558468 +KIFC3 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +KLHL26 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +KMT2C 2 zhouSporadicEndemicBurkitt2019 31300419 +KMT2D 1 grandeGenomewideDiscoverySomatic2019 30617194 +MAP3K6 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +MCL1 2 PASS 4 paneaWholeGenomeLandscape2019 31558468 +MIR142 2 TRUE grandeGenomewideDiscoverySomatic2019 30617194 +MKI67 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +MME 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +MTOR 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +MYC 1 TRUE johnstonCmycHypermutationBurkitt1992 1297477 +MYH10 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +MYO18A 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +NBEAL1 2 PASS 4 loveGeneticLandscapeMutations2012 23143597 +NCOR2 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +NOA1 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +NOTCH1 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +NRXN2 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +P2RY2 2 PASS 4 loveGeneticLandscapeMutations2012 23143597 +P2RY8 1 muppidiLossSignalingGa132014b 25274307 +PABPC4L 3 FAIL 2 paneaWholeGenomeLandscape2019 31558468 +PC 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +PCBP1 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +PCDHA11 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +PDCD11 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +PDZRN3 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +PHF6 1 thomasGeneticSubgroupsInform2023 36201743 +PIK3R1 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +PIM1 2 TRUE burkhardtClinicalRelevanceMolecular2022b 35794096 +PLCG2 2 PASS 3 paneaWholeGenomeLandscape2019 31558468 +POLRMT 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +POR 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +PPP6R2 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +PREX1 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +PRSS22 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +PTEN 1 loveGeneticLandscapeMutations2012 23143597 +PTPRN 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +PXDNL 3 FAIL 1 paneaWholeGenomeLandscape2019 31558468 +RANBP6 2 PASS 5 loveGeneticLandscapeMutations2012 23143597 +RBP3 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +RET 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +REV3L 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +RFX7 1 grandeGenomewideDiscoverySomatic2019 30617194 +RHOA 1 richterRecurrentMutationID32012a 23143595 +RNF144B 2 PASS 3 paneaWholeGenomeLandscape2019 31558468 +RPL10 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +S1PR2 2 TRUE muppidiLossSignalingGa132014b 25274307 +SAL3 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +SALL3 3 FAIL 2 loveGeneticLandscapeMutations2012 23143597 +SAPS2 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +SBF1 3 FAIL 2 loveGeneticLandscapeMutations2012 23143597 +SF3B1 3 FAIL 4 loveGeneticLandscapeMutations2012 23143597 +SHANK1 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +SIN3A 1 grandeGenomewideDiscoverySomatic2019 30617194 +SLC29A2 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +SMARCA4 1 richterRecurrentMutationID32012a 23143595 +SNTB2 3 FAIL 2 paneaWholeGenomeLandscape2019 31558468 +SYNGAP1 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +TBC1D9B 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +TCF3 1 schmitzBurkittLymphomaPathogenesis2012 22885699 +TCL1A 1 TRUE grandeGenomewideDiscoverySomatic2019 30617194 +TET2 2 thomasGeneticSubgroupsInform2023 36201743 +TFAP4 1 grandeGenomewideDiscoverySomatic2019 30617194 +TIGD6 3 FAIL 1 loveGeneticLandscapeMutations2012 23143597 +TOP2A 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +TP53 1 wildaInactivationARFMDM2p53Pathway2004 14712292 +TPST2 3 FAIL 0 loveGeneticLandscapeMutations2012 23143597 +TTN 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +USP7 1 grandeGenomewideDiscoverySomatic2019 30617194 +VWA7 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +WDR7 3 FAIL 2 paneaWholeGenomeLandscape2019 31558468 +WDR90 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +WHAMM 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +WNK1 1 thomasGeneticSubgroupsInform2023 36201743 +WNK2 2 PASS 4 paneaWholeGenomeLandscape2019 31558468 +YY1AP1 2 schmitzBurkittLymphomaPathogenesis2012 22885699 +ZAN 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +ZBTB7A 2 burkhardtClinicalRelevanceMolecular2022b 35794096 +ZFP36L1 2 TRUE PASS 4 paneaWholeGenomeLandscape2019 31558468 +ZNF229 3 FAIL Germline loveGeneticLandscapeMutations2012 23143597 +ZNF85 2 burkhardtClinicalRelevanceMolecular2022b 35794096 diff --git a/resources/curated/dlbcl_genes.tsv b/resources/curated/dlbcl_genes.tsv index df538816..8c39bc1f 100644 --- a/resources/curated/dlbcl_genes.tsv +++ b/resources/curated/dlbcl_genes.tsv @@ -116,7 +116,7 @@ CHEK2 3 FALSE NA fanComprehensiveCharacterizationDriver2020b FALSE 32565964 CHRM5 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 CHST2 3 FALSE FAIL 2 reddyGeneticFunctionalDrivers2017 FALSE 28985567 CIC 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 -CIITA 2 TRUE NA morinFrequentMutationHistonemodifying2011 TRUE 21796119 +CIITA 1 TRUE NA morinFrequentMutationHistonemodifying2011 TRUE 21796119 CNGA4 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 CNOT2 2 FALSE PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE 33953289 CNOT6 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 @@ -142,7 +142,7 @@ CYP24A1 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 CYP2C18 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 CYYR1 3 FALSE NA fanComprehensiveCharacterizationDriver2020b FALSE 32565964 DAZAP1 2 FALSE NA pararajalingamCodingNoncodingDrivers2020 FALSE 32160292 -DCAF6 2 FALSE FAIL 2 reddyGeneticFunctionalDrivers2017 FALSE 28985567 +DCAF6 3 FALSE FAIL 2 reddyGeneticFunctionalDrivers2017 FALSE 28985567 DDB1 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 DDX10 2 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 DDX3X 1 FALSE NA reddyGeneticFunctionalDrivers2017 TRUE @@ -150,7 +150,7 @@ DGCR8 3 FALSE NA fanComprehensiveCharacterizationDriver2020b FALSE 32565964 DHX16 2 FALSE PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE 33953289 DHX33 3 FALSE NA fanComprehensiveCharacterizationDriver2020b FALSE 32565964 DIAPH3 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 -DICER1 2 FALSE FAIL 2 reddyGeneticFunctionalDrivers2017 FALSE 28985567 +DICER1 3 FALSE FAIL 2 reddyGeneticFunctionalDrivers2017 FALSE 28985567 DIP2B 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 DLGAP1 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 DMXL1 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 @@ -375,7 +375,7 @@ MEF2C 1 TRUE NA arthurGenomewideDiscoverySomatic2018 FALSE 30275490 MET 2 FALSE PASS 3 reddyGeneticFunctionalDrivers2017 FALSE 28985567 MGA 1 FALSE NA reddyGeneticFunctionalDrivers2017 FALSE 23292937 MIB1 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 -MIR142 2 TRUE NA kwanhianMicroRNA142Mutated202012b FALSE 23342264 +MIR142 1 TRUE NA kwanhianMicroRNA142Mutated202012b FALSE 23342264 MIR155HG 2 TRUE NA NA NA FALSE NA MLH1 3 FALSE NA fanComprehensiveCharacterizationDriver2020b FALSE 32565964 MMEL1 3 FALSE NA fanComprehensiveCharacterizationDriver2020b FALSE 32565964 @@ -411,7 +411,7 @@ NF1 2 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 28985567 NFIB 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 NFKB1 2 FALSE NA NA NA FALSE NA NFKB2 3 FALSE FAIL 2 reddyGeneticFunctionalDrivers2017 FALSE 28985567 -NFKBIA 1 FALSE NA lakeMutationsNFKBIAEncoding2009 TRUE 19507254 +NFKBIA 1 FALSE NA thomasMutationalAnalysisIkappaBalpha2004 TRUE 15198731 NFKBIE 1 FALSE NA morinGeneticLandscapesRelapsed2016 FALSE 26647218 NFKBIZ 1 TRUE NA morinGeneticLandscapesRelapsed2016 FALSE 26647218 NFX1 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 @@ -530,7 +530,7 @@ RELN 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 RET 3 FALSE NA fanComprehensiveCharacterizationDriver2020b FALSE 32565964 RFC1 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 RFTN1 2 TRUE NA arthurGenomewideDiscoverySomatic2018 FALSE 30275490 -RFX7 1 FALSE NA NA NA FALSE NA +RFX7 1 FALSE NA NA arthurGenomewideDiscoverySomatic2018 FALSE NA RFXAP 2 FALSE NA NA NA FALSE NA RGS1 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 RHEX 2 TRUE NA NA NA FALSE NA @@ -672,7 +672,7 @@ ZBTB7A 3 FALSE FAIL 1 reddyGeneticFunctionalDrivers2017 FALSE 28985567 ZC3H12A 1 FALSE NA chapuyMolecularSubtypesDiffuse2018b FALSE 29713087 ZCCHC7 2 TRUE NA arthurGenomewideDiscoverySomatic2018 FALSE 30275490 ZEB2 2 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 -ZFAT 2 FALSE FAIL 2 reddyGeneticFunctionalDrivers2017 FALSE 28985567 +ZFAT 3 FALSE FAIL 2 reddyGeneticFunctionalDrivers2017 FALSE 28985567 ZFP36L1 1 TRUE NA morinFrequentMutationHistonemodifying2011 TRUE 21796119 ZFX 2 FALSE PASS 3 reddyGeneticFunctionalDrivers2017 FALSE 28985567 ZIC4 3 FALSE NA zhangGeneticHeterogeneityDiffuse2013 FALSE 23292937 diff --git a/resources/curated/fl_genes.tsv b/resources/curated/fl_genes.tsv index fb98f141..b6712edf 100644 --- a/resources/curated/fl_genes.tsv +++ b/resources/curated/fl_genes.tsv @@ -1,117 +1,114 @@ -Gene curated Tier Dreval Hubschmann Crouch Kalmbach Russler-Germain First_description citekey Comment frequency_GAMBL -ABL2 FALSE 2 FALSE FALSE FALSE TRUE FALSE 37563306 russler-germainMutationsAssociatedProgression2023a NA 0.32 -ACTB TRUE 1 TRUE TRUE FALSE FALSE FALSE NA NA aSHM 3.8 -ACTG1 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 2.22 -ARID1A TRUE 1 FALSE TRUE TRUE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b NA 11.39 -ATP6AP1 TRUE 1 TRUE TRUE FALSE FALSE FALSE 26691987 okosunRecurrentMTORC1activatingRRAGC2016a NA 3.48 -ATP6V1A FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 1.27 -ATP6V1B2 TRUE 1 TRUE TRUE FALSE FALSE FALSE 26691987 okosunRecurrentMTORC1activatingRRAGC2016a NA 7.59 -B2M TRUE 1 TRUE TRUE FALSE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 8.23 -BCL10 FALSE 2 FALSE FALSE FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 1.9 -BCL2 TRUE 1 TRUE TRUE TRUE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 39.87 -BCL6 TRUE 1 FALSE FALSE FALSE FALSE TRUE 37084389 NA aSHM 5.38 -BCL7A TRUE 1 FALSE TRUE TRUE TRUE TRUE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 8.23 -BIRC6 TRUE 1 TRUE FALSE FALSE FALSE FALSE NA NA NA 2.85 -BTG1 TRUE 1 TRUE FALSE TRUE FALSE FALSE NA NA aSHM 5.38 -BTG2 TRUE 1 TRUE TRUE TRUE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 aSHM 2.53 -BTK TRUE 1 FALSE FALSE FALSE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b NA 5.06 -CARD11 TRUE 1 FALSE FALSE FALSE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 12.34 -CCDC42BPB FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA NA -CCND3 TRUE 1 TRUE FALSE FALSE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 1.9 -CD70 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 0.63 -CD79B FALSE 2 TRUE NA FALSE FALSE TRUE NA NA NA 1.9 -CD83 TRUE 1 TRUE NA TRUE FALSE FALSE 37493986 russler-germainMutationsAssociatedProgression2023a aSHM 0.32 -CILP FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA NA -CPNE8 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 2.22 -CREBBP TRUE 1 TRUE NA TRUE TRUE TRUE pasqualucciInactivatingMutationsAcetyltransferase2011a NA 59.18 -CTSS TRUE 1 FALSE NA FALSE FALSE FALSE 32330423 barariaCathepsinAlterationsInduce2020c NA 3.8 -CXCR4 FALSE 2 FALSE TRUE FALSE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b NA 1.9 -CYP2A6 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA NA -DDX3X FALSE 2 TRUE NA FALSE FALSE FALSE 37084389 NA NA 3.16 -DHX15 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 0.63 -DTX1 TRUE 1 TRUE NA TRUE FALSE FALSE NA NA NA 3.48 -DUSP2 FALSE 2 TRUE NA FALSE FALSE FALSE NA NA NA 1.58 -EBF1 TRUE 1 FALSE TRUE FALSE FALSE FALSE NA NA NA 6.96 -EEF1A1 FALSE 1 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 8.23 -EGR1 FALSE 2 FALSE FALSE FALSE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b NA 3.48 -EP300 TRUE 1 FALSE TRUE FALSE TRUE FALSE pasqualucciInactivatingMutationsAcetyltransferase2011a NA 9.49 -EZH2 TRUE 1 TRUE TRUE TRUE TRUE TRUE 20081860 morinSomaticMutationsAltering2010 NA 22.78 -FAS TRUE 1 TRUE NA FALSE FALSE TRUE 21796119 NA NA 4.11 -FOXO1 TRUE 1 FALSE TRUE TRUE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 8.23 -FZR1 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 0.95 -GBP7 FALSE 2 FALSE NA FALSE TRUE FALSE 37563306 russler-germainMutationsAssociatedProgression2023a NA NA -GNA13 TRUE 1 TRUE TRUE FALSE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 8.23 -GNAI2 TRUE 1 FALSE TRUE FALSE FALSE FALSE NA NA NA 3.8 -GRM6 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 0.32 -HIST1H1B TRUE 1 TRUE NA TRUE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 3.8 -HIST1H1C TRUE 1 TRUE NA TRUE FALSE FALSE 21796119 morinFrequentMutationHistonemodifying2011 aSHM 4.11 -HIST1H1D TRUE 1 FALSE NA TRUE FALSE TRUE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 2.22 -HIST1H1E TRUE 1 TRUE NA TRUE FALSE TRUE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 10.76 -HIST1H2AC TRUE 1 FALSE NA TRUE FALSE TRUE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 1.58 -HIST1H2AG TRUE 1 FALSE NA TRUE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 1.58 -HIST1H2AM TRUE 1 FALSE NA TRUE FALSE TRUE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 2.53 -HIST1H2BC TRUE 1 FALSE NA TRUE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 2.22 -HIST1H2BD TRUE 1 FALSE NA TRUE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 1.27 -HIST1H2BG TRUE 1 FALSE NA TRUE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 0.95 -HIST1H2BM FALSE 2 FALSE NA FALSE FALSE TRUE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 0.32 -HIST1H3B TRUE 1 FALSE NA TRUE FALSE FALSE NA NA aSHM 1.27 -HIST1H3G TRUE 1 FALSE NA TRUE FALSE TRUE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 0.95 -HIST1H3I FALSE 2 FALSE NA FALSE FALSE TRUE 28064239 krysiakRecurrentSomaticMutations2017b aSHM 0.95 -HLA-B FALSE 2 TRUE NA FALSE FALSE FALSE NA NA NA 2.53 -HNRNPD FALSE 2 TRUE NA FALSE FALSE FALSE NA NA NA NA -HVCN1 TRUE 1 FALSE NA FALSE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b NA 5.38 -IGLL5 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a aSHM/SHM. Unclear if this should be considered a gene 29.75 -IRF4 TRUE 1 FALSE NA FALSE FALSE FALSE NA NA LBCL-IRF4 0.95 -IRF8 TRUE 1 FALSE TRUE TRUE TRUE FALSE 21796119 morinFrequentMutationHistonemodifying2011 aSHM 9.81 -ITPKB TRUE 1 TRUE NA FALSE FALSE FALSE NA NA NA 1.9 -JUP FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 1.27 -KIR3DL1 FALSE 2 FALSE NA FALSE TRUE FALSE 37563306 russler-germainMutationsAssociatedProgression2023a NA 0.32 -KLF2 TRUE 1 TRUE NA FALSE FALSE FALSE NA NA NA 1.58 -KLHL6 TRUE 1 FALSE NA FALSE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 5.38 -KMT2D TRUE 1 TRUE TRUE TRUE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 60.76 -LAPTM5 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 3.8 -LTB TRUE 1 FALSE NA FALSE FALSE FALSE NA NA NA 7.91 -MAGEC1 FALSE 2 FALSE NA FALSE TRUE FALSE 37563306 russler-germainMutationsAssociatedProgression2023a NA 0.63 -MAP2K1 TRUE 1 FALSE NA FALSE FALSE FALSE 27325104 louissaintPediatrictypeNodalFollicular2016a PTNFL 0.95 -MAP7D1 FALSE 2 FALSE NA FALSE TRUE FALSE 37563306 russler-germainMutationsAssociatedProgression2023a NA NA -MEF2B TRUE 1 TRUE NA TRUE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 11.39 -MEF2C TRUE 1 FALSE TRUE FALSE FALSE FALSE NA NA NA 6.01 -MGEA5 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 1.58 -MKI67 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 0.32 -MYC FALSE 2 FALSE NA TRUE FALSE FALSE NA NA NA 0.95 -MYCBP2 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 2.22 -MYD88 FALSE 2 TRUE NA FALSE FALSE TRUE NA NA NA 1.58 -NFKBIA FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 0.95 -OR8H2 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 1.27 -P2RY8 FALSE 2 TRUE NA FALSE FALSE FALSE NA NA NA 1.27 -PDS5B FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA NA -PCLO TRUE 1 TRUE NA FALSE FALSE FALSE NA NA NA 6.33 -PIM1 TRUE 1 TRUE NA TRUE FALSE TRUE NA NA NA 7.91 -POU2AF1 TRUE 1 TRUE NA FALSE TRUE TRUE 28064239 krysiakRecurrentSomaticMutations2017b NA 10.13 -POU2F2 TRUE 1 FALSE NA FALSE TRUE FALSE 28064239 krysiakRecurrentSomaticMutations2017b NA 5.06 -PPP4C FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 1.27 -PRKDC FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 2.22 -PTPRD TRUE 1 TRUE NA FALSE FALSE FALSE NA NA NA 3.16 -PZP FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 0.95 -RBM6 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA NA -RRAGC TRUE 1 TRUE TRUE FALSE FALSE FALSE NA NA NA 9.49 -S1PR2 TRUE 1 FALSE NA FALSE FALSE FALSE NA NA NA 5.7 -SESN1 FALSE 2 FALSE NA FALSE FALSE FALSE 28659443 NA NA 0.32 -SGK1 TRUE 1 TRUE TRUE TRUE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 4.11 -SHROOM3 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 0.63 -SMARCA4 TRUE 1 FALSE NA FALSE FALSE TRUE 28064239 krysiakRecurrentSomaticMutations2017b NA 2.53 -SOCS1 TRUE 1 TRUE TRUE TRUE FALSE TRUE NA NA NA 7.91 -SRRM2 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 0.63 -STAB2 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 1.9 -STAT6 TRUE 1 TRUE TRUE TRUE TRUE FALSE 25428220 yildizActivatingSTAT6Mutations2015c NA 16.14 -TBL1XR1 TRUE 1 TRUE NA FALSE FALSE TRUE NA NA NA 2.85 -TMEM30A FALSE 2 FALSE NA FALSE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 0.95 -TMSB4X TRUE 1 TRUE NA FALSE FALSE FALSE NA NA NA 3.16 -TNFAIP3 TRUE 1 FALSE NA FALSE FALSE TRUE NA NA NA 3.16 -TNFRSF14 TRUE 1 TRUE TRUE TRUE TRUE TRUE 21796119 cheungAcquiredTNFRSF14Mutations2010a NA 36.08 -TP53 TRUE 1 TRUE TRUE FALSE FALSE TRUE 21796119 morinFrequentMutationHistonemodifying2011 NA 6.01 -TPP1 FALSE 2 FALSE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 1.27 -VMA21 TRUE 1 TRUE TRUE FALSE FALSE FALSE 33953289 hubschmannMutationalMechanismsShaping2021b NA 4.43 -XIRP2 FALSE 2 FALSE NA FALSE FALSE TRUE 37493986 russler-germainMutationsAssociatedProgression2023a NA 2.85 -ZC3H12A FALSE 2 TRUE NA FALSE FALSE FALSE NA NA NA NA -ZNF608 FALSE 2 FALSE FALSE FALSE FALSE FALSE 28064239 krysiakRecurrentSomaticMutations2017b NA 4.11 +Gene Tier aSHM QC Mean Variant Quality citekey Dreval Hubschmann Crouch Kalmbach Russler-Germain PMID +ABL2 2 russler-germainMutationsAssociatedProgression2023b FALSE FALSE FALSE TRUE FALSE 37563306 +ACTB 1 TRUE drevalGeneticSubdivisionsFollicular2023 TRUE TRUE FALSE FALSE FALSE NA +ACTG1 2 TRUE hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +ARID1A 1 krysiakRecurrentSomaticMutations2017b FALSE TRUE TRUE FALSE FALSE 28064239 +ATP6AP1 1 okosunRecurrentMTORC1activatingRRAGC2016a TRUE TRUE FALSE FALSE FALSE 26691987 +ATP6V1A 2 PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +ATP6V1B2 1 okosunRecurrentMTORC1activatingRRAGC2016a TRUE TRUE FALSE FALSE FALSE 26691987 +B2M 1 morinFrequentMutationHistonemodifying2011 TRUE TRUE FALSE FALSE TRUE 21796119 +BCL10 1 russler-germainMutationsAssociatedProgression2023b FALSE FALSE FALSE FALSE TRUE 37493986 +BCL2 1 TRUE morinFrequentMutationHistonemodifying2011 TRUE TRUE TRUE FALSE TRUE 21796119 +BCL6 1 TRUE drevalGeneticSubdivisionsFollicular2023 FALSE FALSE FALSE FALSE TRUE 37084389 +BCL7A 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE TRUE TRUE TRUE TRUE 28064239 +BIRC6 2 NA TRUE FALSE FALSE FALSE FALSE NA +BTG1 2 TRUE drevalGeneticSubdivisionsFollicular2023 TRUE FALSE TRUE FALSE FALSE NA +BTG2 2 TRUE drevalGeneticSubdivisionsFollicular2023 TRUE TRUE TRUE FALSE TRUE 21796119 +BTK 1 krysiakRecurrentSomaticMutations2017b FALSE FALSE FALSE FALSE FALSE 28064239 +CARD11 1 morinFrequentMutationHistonemodifying2011 FALSE FALSE FALSE FALSE TRUE 21796119 +CCND3 1 morinFrequentMutationHistonemodifying2011 TRUE FALSE FALSE FALSE TRUE 21796119 +CD70 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +CD79B 2 drevalGeneticSubdivisionsFollicular2023 TRUE NA FALSE FALSE TRUE NA +CD83 1 TRUE russler-germainMutationsAssociatedProgression2023b TRUE NA TRUE FALSE FALSE 37493986 +CDC42BPB 2 PASS 3 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +CILP 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +CPNE8 2 PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +CREBBP 1 pasqualucciInactivatingMutationsAcetyltransferase2011a TRUE NA TRUE TRUE TRUE +CTSS 1 barariaCathepsinAlterationsInduce2020c FALSE NA FALSE FALSE FALSE 32330423 +CXCR4 2 TRUE krysiakRecurrentSomaticMutations2017b FALSE TRUE FALSE FALSE FALSE 28064239 +CYP2A6 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +DDX3X 2 NA TRUE NA FALSE FALSE FALSE 37084389 +DHX15 2 PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +DTX1 2 TRUE NA TRUE NA TRUE FALSE FALSE NA +DUSP2 2 TRUE drevalGeneticSubdivisionsFollicular2023 TRUE NA FALSE FALSE FALSE NA +EBF1 1 TRUE NA FALSE TRUE FALSE FALSE FALSE NA +EEF1A1 1 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +EGR1 2 krysiakRecurrentSomaticMutations2017b FALSE FALSE FALSE FALSE FALSE 28064239 +EP300 1 pasqualucciInactivatingMutationsAcetyltransferase2011a FALSE TRUE FALSE TRUE FALSE +EZH2 1 morinSomaticMutationsAltering2010a TRUE TRUE TRUE TRUE TRUE 20081860 +FAS 1 NA TRUE NA FALSE FALSE TRUE 21796119 +FOXO1 1 morinFrequentMutationHistonemodifying2011 FALSE TRUE TRUE FALSE TRUE 21796119 +FZR1 2 PASS 3 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +GBP7 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE TRUE FALSE 37563306 +GNA13 1 morinFrequentMutationHistonemodifying2011 TRUE TRUE FALSE FALSE TRUE 21796119 +GNAI2 1 NA FALSE TRUE FALSE FALSE FALSE NA +GRM6 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +HIST1H1B 1 TRUE krysiakRecurrentSomaticMutations2017b TRUE NA TRUE FALSE FALSE 28064239 +HIST1H1C 1 TRUE morinFrequentMutationHistonemodifying2011 TRUE NA TRUE FALSE FALSE 21796119 +HIST1H1D 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA TRUE FALSE TRUE 28064239 +HIST1H1E 1 TRUE krysiakRecurrentSomaticMutations2017b TRUE NA TRUE FALSE TRUE 28064239 +HIST1H2AC 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA TRUE FALSE TRUE 28064239 +HIST1H2AG 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA TRUE FALSE FALSE 28064239 +HIST1H2AM 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA TRUE FALSE TRUE 28064239 +HIST1H2BC 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA TRUE FALSE FALSE 28064239 +HIST1H2BD 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA TRUE FALSE FALSE 28064239 +HIST1H2BG 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA TRUE FALSE FALSE 28064239 +HIST1H2BM 2 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA FALSE FALSE TRUE 28064239 +HIST1H3B 2 TRUE NA FALSE NA TRUE FALSE FALSE NA +HIST1H3G 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA TRUE FALSE TRUE 28064239 +HIST1H3I 1 TRUE krysiakRecurrentSomaticMutations2017b FALSE NA FALSE FALSE TRUE 28064239 +HLA-B 2 NA TRUE NA FALSE FALSE FALSE NA +HVCN1 1 krysiakRecurrentSomaticMutations2017b FALSE NA FALSE FALSE FALSE 28064239 +IGLL5 2 TRUE russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +IRF4 1 TRUE drevalGeneticSubdivisionsFollicular2023 FALSE NA FALSE FALSE FALSE NA +IRF8 1 TRUE morinFrequentMutationHistonemodifying2011 FALSE TRUE TRUE TRUE FALSE 21796119 +ITPKB 2 TRUE drevalGeneticSubdivisionsFollicular2023 TRUE NA FALSE FALSE FALSE NA +JUP 2 PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +KIR3DL1 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE TRUE FALSE 37563306 +KLF2 2 TRUE drevalGeneticSubdivisionsFollicular2023 TRUE NA FALSE FALSE FALSE NA +KLHL6 1 TRUE morinFrequentMutationHistonemodifying2011 FALSE NA FALSE FALSE TRUE 21796119 +KMT2D 1 morinFrequentMutationHistonemodifying2011 TRUE TRUE TRUE FALSE TRUE 21796119 +LAPTM5 2 PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +LTB 2 TRUE drevalGeneticSubdivisionsFollicular2023 FALSE NA FALSE FALSE FALSE NA +MAGEC1 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE TRUE FALSE 37563306 +MAP2K1 1 louissaintPediatrictypeNodalFollicular2016a FALSE NA FALSE FALSE FALSE 27325104 +MAP7D1 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE TRUE FALSE 37563306 +MEF2B 1 TRUE morinFrequentMutationHistonemodifying2011 TRUE NA TRUE FALSE TRUE 21796119 +MEF2C 2 TRUE NA FALSE TRUE FALSE FALSE FALSE NA +MGEA5 2 PASS 3 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +MKI67 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +MYC 1 TRUE NA FALSE NA TRUE FALSE FALSE NA +MYCBP2 2 PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +MYD88 2 drevalGeneticSubdivisionsFollicular2023 TRUE NA FALSE FALSE TRUE NA +NFKBIA 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +OR8H2 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +P2RY8 2 drevalGeneticSubdivisionsFollicular2023 TRUE NA FALSE FALSE FALSE NA +PDS5B 2 PASS 3 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +PIM1 1 TRUE drevalGeneticSubdivisionsFollicular2023 TRUE NA TRUE FALSE TRUE NA +POU2AF1 1 krysiakRecurrentSomaticMutations2017b TRUE NA FALSE TRUE TRUE 28064239 +POU2F2 1 krysiakRecurrentSomaticMutations2017b FALSE NA FALSE TRUE FALSE 28064239 +PPP4C 2 PASS 4 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +PRKDC 2 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +PTPRD 2 drevalGeneticSubdivisionsFollicular2023 TRUE NA FALSE FALSE FALSE NA +PZP 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +RBM6 2 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +RRAGC 1 okosunRecurrentMTORC1activatingRRAGC2016a TRUE TRUE FALSE FALSE FALSE NA +S1PR2 2 TRUE drevalGeneticSubdivisionsFollicular2023 FALSE NA FALSE FALSE FALSE NA +SGK1 1 TRUE morinFrequentMutationHistonemodifying2011 TRUE TRUE TRUE FALSE TRUE 21796119 +SHROOM3 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +SMARCA4 1 krysiakRecurrentSomaticMutations2017b FALSE NA FALSE FALSE TRUE 28064239 +SOCS1 1 TRUE drevalGeneticSubdivisionsFollicular2023 TRUE TRUE TRUE FALSE TRUE NA +SRRM2 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +STAB2 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +STAT6 1 yildizActivatingSTAT6Mutations2015c TRUE TRUE TRUE TRUE FALSE 25428220 +TBL1XR1 1 NA TRUE NA FALSE FALSE TRUE NA +TMEM30A 2 morinFrequentMutationHistonemodifying2011 FALSE NA FALSE FALSE TRUE 21796119 +TMSB4X 1 TRUE NA TRUE NA FALSE FALSE FALSE NA +TNFAIP3 1 NA FALSE NA FALSE FALSE TRUE NA +TNFRSF14 1 cheungAcquiredTNFRSF14Mutations2010a TRUE TRUE TRUE TRUE TRUE 21796119 +TP53 1 morinFrequentMutationHistonemodifying2011 TRUE TRUE FALSE FALSE TRUE 21796119 +TPP1 2 hubschmannMutationalMechanismsShaping2021b FALSE TRUE FALSE FALSE FALSE 33953289 +VMA21 1 hubschmannMutationalMechanismsShaping2021b TRUE TRUE FALSE FALSE FALSE 33953289 +XIRP2 2 russler-germainMutationsAssociatedProgression2023b FALSE NA FALSE FALSE TRUE 37493986 +ZC3H12A 2 NA TRUE NA FALSE FALSE FALSE NA +ZNF608 2 krysiakRecurrentSomaticMutations2017b FALSE FALSE FALSE FALSE FALSE 28064239