Summary of variations discovered in PARP1, MSH2, DDB1, DCLRE1C, MLH3, and XRCC5 after sequencing of expanded DLBCL cohorts
| Gene | DNA | Protein | Method | Novel/SNP | Somatic/germline | Ethnicorigin | MAF 1,000genomes‡ | SIFT | Polyphen |
| PARP1 | c.1897A>T | p.K633X | Sanger | Novel | Somatic | Chinese | 0 | - | - |
| c.1910_1922delinsGTT | p.(K637Sfs*13) | Selector & Sanger | Novel | Somatic | Chinese | 0 | - | - | |
| c.2326A>G | p.S776G | Selector & Sanger | Novel | Germline | Chinese | 0 | Damaging | Damaging (possibly) | |
| c.2756T>C | p.I919T | Sanger | Novel | ND | Chinese | 0 | Damaging | Damaging (possibly) | |
| c.2789A>G | p.Y930C | Sanger | rs189410139 | ND | Chinese | 0.003 | Damaging | Damaging (probably) | |
| c.3037C>A | p.L1013M | Sanger | rs138906127 | ND | Swedish | 0.001 | Tolerated | Damaging (possibly) | |
| MSH2 | c.1316C>T | p.P439L | Sanger | Novel | ND | Chinese | 0 | Damaging | Damaging (probably) |
| c.1619A>G | p.S540G | Selector & Sanger | Novel | Somatic | Chinese | 0 | Tolerated | Benign | |
| c.2498C>G | p.L833V | Selector & Sanger | Novel | Somatic | Chinese | 0 | Damaging | Benign | |
| c.505A>G | p.I169V | Sanger | rs63750716 | ND | Chinese | 0 | Tolerated | Benign | |
| DDB1 | c.26C>G | p.A9G | Selector | Novel | Somatic | Chinese | 0 | Damaging | Damaging (probably) |
| c.2375_2376dupTT | p.(I793Lfs*75) | 454 amplicon | Novel | ND | Chinese | 0 | - | - | |
| c.3360G>A | p.M1120I | 454 amplicon | Novel | ND | Swedish | 0 | Tolerated | Benign | |
| DCLRE1C | c.536G>A | p.R179Q | 454 amplicon | rs150854849 | ND | Swedish | 0 | Damaging | Damaging (probably) |
| c.1628_1632delTAACA | p.(I543Rfs*12) | Selector | Novel | Somatic | Chinese | 0 | - | - | |
| MLH3 | c.119G>A | p.C40Y | Selector | Novel | Germline | Chinese | 0 | Damaging | Damaging (probably) |
| c.365A>G | p.K122R | 454 amplicon | Novel | ND | Chinese | 0 | Damaging | Damaging (probably) | |
| c.2221G>T | p.V741I | 454 amplicon | rs28756990 | ND | Swedish | 0.004 | Tolerated | Damaging (possibly) | |
| c.2837C>T | p.S946F | Selector | rs201441389 | Germline | Chinese | 0.003 | Tolerated | Damaging (possibly) | |
| c.2964C>G | p.I988M | Selector | Novel | Germline | Chinese | 0 | Damaging | Benign | |
| c.3331C>T | p.L1111F | Selector | Novel | Germline | Chinese | 0 | Damaging | Damaging (probably) | |
| XRCC5 | c.847A>G | p.T283A | Selector | Novel | Somatic | Chinese | 0 | Damaging | Damaging (probably) |
| c.1046C>A | p.S349Y | 454 amplicon | Novel | Germline | Chinese | 0 | Damaging | Damaging (probably) | |
| c.1522A>G | p.I508V | 454 amplicon | rs2287558 | ND | Swedish | 0.003 | Tolerated | Benign |
| Gene | DNA | Protein | Method | Novel/SNP | Somatic/germline | Ethnicorigin | MAF 1,000genomes‡ | SIFT | Polyphen |
| PARP1 | c.1897A>T | p.K633X | Sanger | Novel | Somatic | Chinese | 0 | - | - |
| c.1910_1922delinsGTT | p.(K637Sfs*13) | Selector & Sanger | Novel | Somatic | Chinese | 0 | - | - | |
| c.2326A>G | p.S776G | Selector & Sanger | Novel | Germline | Chinese | 0 | Damaging | Damaging (possibly) | |
| c.2756T>C | p.I919T | Sanger | Novel | ND | Chinese | 0 | Damaging | Damaging (possibly) | |
| c.2789A>G | p.Y930C | Sanger | rs189410139 | ND | Chinese | 0.003 | Damaging | Damaging (probably) | |
| c.3037C>A | p.L1013M | Sanger | rs138906127 | ND | Swedish | 0.001 | Tolerated | Damaging (possibly) | |
| MSH2 | c.1316C>T | p.P439L | Sanger | Novel | ND | Chinese | 0 | Damaging | Damaging (probably) |
| c.1619A>G | p.S540G | Selector & Sanger | Novel | Somatic | Chinese | 0 | Tolerated | Benign | |
| c.2498C>G | p.L833V | Selector & Sanger | Novel | Somatic | Chinese | 0 | Damaging | Benign | |
| c.505A>G | p.I169V | Sanger | rs63750716 | ND | Chinese | 0 | Tolerated | Benign | |
| DDB1 | c.26C>G | p.A9G | Selector | Novel | Somatic | Chinese | 0 | Damaging | Damaging (probably) |
| c.2375_2376dupTT | p.(I793Lfs*75) | 454 amplicon | Novel | ND | Chinese | 0 | - | - | |
| c.3360G>A | p.M1120I | 454 amplicon | Novel | ND | Swedish | 0 | Tolerated | Benign | |
| DCLRE1C | c.536G>A | p.R179Q | 454 amplicon | rs150854849 | ND | Swedish | 0 | Damaging | Damaging (probably) |
| c.1628_1632delTAACA | p.(I543Rfs*12) | Selector | Novel | Somatic | Chinese | 0 | - | - | |
| MLH3 | c.119G>A | p.C40Y | Selector | Novel | Germline | Chinese | 0 | Damaging | Damaging (probably) |
| c.365A>G | p.K122R | 454 amplicon | Novel | ND | Chinese | 0 | Damaging | Damaging (probably) | |
| c.2221G>T | p.V741I | 454 amplicon | rs28756990 | ND | Swedish | 0.004 | Tolerated | Damaging (possibly) | |
| c.2837C>T | p.S946F | Selector | rs201441389 | Germline | Chinese | 0.003 | Tolerated | Damaging (possibly) | |
| c.2964C>G | p.I988M | Selector | Novel | Germline | Chinese | 0 | Damaging | Benign | |
| c.3331C>T | p.L1111F | Selector | Novel | Germline | Chinese | 0 | Damaging | Damaging (probably) | |
| XRCC5 | c.847A>G | p.T283A | Selector | Novel | Somatic | Chinese | 0 | Damaging | Damaging (probably) |
| c.1046C>A | p.S349Y | 454 amplicon | Novel | Germline | Chinese | 0 | Damaging | Damaging (probably) | |
| c.1522A>G | p.I508V | 454 amplicon | rs2287558 | ND | Swedish | 0.003 | Tolerated | Benign |
For expanded DLBCL cohort, PARP1 and MSH2 genes were analyzed in 130 (95 Chinese and 35 Swedish) and 94 (59 Chinese and 35 Swedish) DLBCL samples, respectively, whereas DDB1, DCLRE1C, MLH3, and XRCC5 genes were sequenced in 48 (25 Chinese and 23 Swedish) DLBCL samples. MAF 1,000 genomes data were available for 379 European and 197 Chinese controls. ND, not determined.