Table 3. Non-synonymous somatic variants identified in PB-DLBCL samples.
Sample | Position | Ref/Alt | Gene | Function | Exon | CDS change | aa change |
---|---|---|---|---|---|---|---|
1 | 6:37140780 | G/A | PIM1 | missense | exon5 | c.G616A | p.V206M |
6:106536093 | C/CTCCA | PRDM1 | frameshift_variant | exon2 | c.60_61insCCGGCT | p.Ser21fs | |
3 | 16:3820828 | G/A | CREBBP | missense | exon14 | c.C2623T | p.P875S |
5 | 17:62006799 | A/G | CD79B | missense | exon5 | c.T586C | p.Y196H |
3:38182641 | T/C | MYD88 | missense | exon5 | c.T794C | p.L265P | |
6:37138405 | C/A | PIM1 | missense | exon1 | c.C54A | p.N18K | |
6:37138427 | G/A | PIM1 | missense | exon1 | c.G76A | p.A26T | |
6:37139097 | G/A | PIM1 | missense | exon4 | c.G437A | p.S146N | |
6:37139180 | C/T | PIM1 | missense | exon4 | c.C520T | p.L174F | |
6:138200190 | C/A | TNFAIP3 | stopgain | exon7 | c.C1608A | p.C536X | |
6 | 12:49420433 | G/A | KMT2D | missense | exon48 | c.C15316T | p.R5106C |
3:38182641 | T/C | MYD88 | missense | exon5 | c.T794C | p.L265P | |
7 | 7:2978320 | C/T | CARD11 | missense | exon7 | c.G1010A | p.R337Q |
3:38182641 | T/C | MYD88 | missense | exon5 | c.T794C | p.L265P | |
8 | 7:2987341 | G/A | CARD11 | missense | exon3 | c.C88T | p.R30W |
6:37139033 | C/T | PIM1 | missense | exon4 | c.C373T | p.P125S | |
9 | 17:62006797 | G/C | CD79B | stopgain | exon5 | c.C588G | p.Y196X |
6:106536235 | G/A | PRDM1 | missense | exon2 | c.G202A | p.D68N | |
10 | 6:41903731 | G/A | CCND3 | stopgain | exon5 | c.C826T | p.Q276X |
6:138200458 | C/CT | TNFAIP3 | frameshift_variant | exon7 | c.1876_1877insT | p.Leu626fs | |
11 | 11:108172446 | G/A | ATM | stopgain | exon35 | c.G5249A | p.W1750X |
12a | 11:108119789 | C/T | ATM | missense | exon9 | c.C1195T | p.H399Y |
7:140482915 | G/A | BRAF | missense | exon10 | c.C1220T | p.P407L | |
16:3788614 | G/A | CREBBP | missense | exon26 | c.C4340T | p.T1447I | |
3:38182641 | T/C | MYD88 | missense | exon5 | c.T794C | p.L265P | |
6:37138401 | G/A | PIM1 | missense | exon1 | c.G50A | p.C17Y | |
6:37139039 | C/T | PIM1 | stopgain | exon4 | c.C379T | p.Q127X | |
17:40476822 | G/A | STAT3 | stopgain | exon17 | c.C1507T | p.Q503X | |
12b | 3:38182641 | T/C | MYD88 | missense | exon5 | c.T794C | p.L265P |
6:37138625 | C/G | PIM1 | stopgain | exon2 | c.C159G | p.Y53X | |
6:37138946 | G/C | PIM1 | missense | exon4 | c.G286C | p.V96L | |
6:37139210 | C/T | PIM1 | missense | exon4 | c.C550T | p.L184F | |
13 | 7:2977612 | A/T | CARD11 | missense | exon8 | c.T1072A | p.C358S |
17:62006647 | A/G | CD79B | missense | exon6 | c.T629C | p.I210T | |
17:62006680 | A/T | CD79B | missense | exon6 | c.T596A | p.L199Q | |
3:38182641 | T/C | MYD88 | missense | exon5 | c.T794C | p.L265P | |
6:37138808 | G/T | PIM1 | splice_donor_variant | ||||
6:37138597 | TGGGCAGCGGCG/T | PIM1 | frameshift_variant | exon2 | c.132del11 | p.Leu44fs | |
6:37139029 | CGAGCCGGT/C | PIM1 | frameshift_variant | exon4 | c.370delGAGCCGGT | p.Glu124fs | |
6:37139210 | C/T | PIM1 | missense | exon4 | c.C550T | p.L184F | |
16:81929465 | C/T | PLCG2 | missense | exon13 | c.C1126T | p.R376W | |
6:106536324 | G/C | PRDM1 | missense | exon2 | c.G291C | p.E97D | |
19:1622393 | C/T | TCF3 | missense | exon9 | c.G571A | p.E191K | |
14 | 12:49440169 | C/T | KMT2D | missense | exon16 | c.G4457A | p.G1486D |
12:49433401 | C/T | KMT2D | splice_acceptor_variant | intron31 | |||
6:37138424 | C/G | PIM1 | missense | exon1 | c.C73G | p.L25V | |
15 | 6:37138769 | C/T | PIM1 | missense | exon3 | c.C202T | p.H68Y |
6:37138976 | C/T | PIM1 | missense | exon4 | c.C316T | p.L106F | |
16 | 3:38182641 | T/C | MYD88 | missense | exon5 | c.T794C | p.L265P |
6:37138354 | G/A | PIM1 | start_lost | exon1 | c.G3A | p.M1I | |
6:37138916 | G/C | PIM1 | missense | exon4 | c.G256C | p.V86L | |
6:37139204 | C/T | PIM1 | missense | exon4 | c.C544T | p.L182F |
Ref, reference base; Alt, altered base; CDS, coding sequence; aa, aminoacid.