Table 1: Genetic alterations comprising pathogenic mutations and VOUSs (variants of unknown significance) detected in the patient’s PTLD specimen.

GeneProtein changecDNA changeCategorizationAllele frequency

ABL1c.2648delGVOUS36.3
ASXL1c.1934delGPathogenic18.63
ASXL1p.A1016Vc.C3047TVOUS32.09
ASXL1p.C1240Fc.G3719TVOUS42.79
ATMp.E871Kc.G2611AVOUS37.24
BCORp.P1621Qfs 53c.4862delCPathogenic31.07
BCORp.L1333Mc.C3997AVOUS57.17
BCORp.P407Lc.C1220TVOUS52.6
BCORp.P178Lc.C533TVOUS19.94
BCORL1p.T39Mc.C116TVOUS23.36
BCORL1p.R500Hc.G1499AVOUS63.21
BRINP3p.A437Tc.G1309AVOUS36.36
CDH2p.L870Mc.T2608AVOUS34.9
CDKN2Ap.R58 c.C172TPathogenic38.3
DNMT3Ap.A70Vc.C209TVOUS35.05
ETV6p.R259Wc.C775TVOUS38.87
EZH2p.Y330Cc.A989GVOUS53.56
FBXW7p.R441Qc.G1322AVOUS45.79
KITp.P468Lc.C1403TVOUS36.26
KITp.N564Dc.A1690GVOUS35.63
NF1p.P464Lc.C1391TVOUS38.12
NF1p.Q2147 c.6439_6441delinsTAGPathogenic35.66
RUNX1p.R250Cc.C748TVOUS38.67
SETBP1p.R54Hc.G161ALikely benign45.23
SETBP1p.G1392Sc.G4174AVOUS39.64
SETBP1p.R589c.C1765TVOUS38.75
SF1p.N200Yc.A598TVOUS39.27
SMC1Ap.R1066Hc.G3197AVOUS25.34
STAG2p.S853Rc.T2559AVOUS14.12
TET2p.A347Vc.C1040TVOUS38.03
TET2p.V1900Ic.G5698AVOUS36.76
TP53p.G245Sc.G733APathogenic38.4
TP53p.E56Kc.G166AVOUS40.77
TP53p.R306 c.C916TPathogenic40.02
U2AF2p.R44Hc.G131AVOUS20.15

ABL1: Abelson Tyrosine Kinase; ASXL1: Additional Sex Combs-Like 1; BCOR: BCL6 Corepressor; BCORL1: BCL6 Corepressor-Like 1; BRINP3: BMP/Retinoic Acid Inducible Neural Specific 3; CDH2: Cadherin 2; CDKN2A: cyclin-dependent kinase inhibitor 2A; DNMT3A: DNA methyltransferase 3 alpha; ETV6: ETS (erythroblast transformation-specific) variant 6; EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit; FBXW7: F-Box and WD Repeat Domain Containing 7; KIT: KIT Protooncogene Receptor Tyrosine Kinase; NF1: Neurofibromin 1; RUNX1: Runt Related Transcription Factor 1; SETBP1: SET Binding Protein 1; SF1: Splicing Factor 1: SMC1A: Structural Maintenance of Chromosomes 1A; STAG2: Stromal Antigen 2: TET2: Tet Methylcytosine Dioxygenase 2: TP53: Tumor Protein P53; U2AF2: U2 Small Nuclear RNA Auxiliary Factor 2.