Supplementary Table 3: Summary of HPRT Mutations from Normal Childrena Subject Gender Age Mutant Class of Mutation Mutant cDNA Frequency (10-6) Number Children 6-11 yrs. BF053B1 M 6.4 5.4 Transition (1) M4 c.3G>A BF064B1 M 8.1 4.1 Transition (1) M10 c.568G>A BF018B1 M 8.7 0.5 Transition (1) M1 Exclusion: 8 BF048B1 M 8.9 2.2 Transition (1) M4 c.209G>A BF012B1 F 9.0 9.0 Transition (1) M13 c.212G>A BF012B1 F 9.0 9.0 Transition (1) M2 c.113C>T BF058B1 F 10.9 0.8 Transition (1) M1 Exclusion: 2,3 BF064B1 M 8.1 4.1 CpG Transition (3) M1 c.151C>T BF064B1 M 8.1 4.1 CpG Transition (3) M12 c.151C>T BF023B1 F 7.5 1.4 Transversion (4) M3 c.434C>A BF064B1 M 8.1 4.1 Transversion (4) M4 c.575C>A BF001B1 M 10.7 2.0 Transversion (4) M3 c.486C>A BF064B1 M 8.1 4.1 Transversion (5) M19 c.569G>C BF105B1 M 6.8 2.0 Transversion (6) M2 c.466A>T BF105B1 M 6.8 2.0 Transversion (7) M4 c.484A>C BF015B1 F 7.7 8.7 Transversion (7) M1 c.389T>G BF064B1 M 8.1 4.1 Transversion (7) M15 c.284T>G BF064B1 M 8.1 4.1 Exon Deletion (8) M16 BF064B1 M 8.1 4.1 Exon Deletion (8) M18 BF064B1 M 8.1 4.1 Exon Deletion (8) M20 BF064B1 M 8.1 4.1 Exon Deletion (8) M5 BF109B1 M 10.5 21.0 Exon Deletion (8) M3 BF001B1 M 10.7 2.0 Exon Deletion (8) M4 BF015B1 F 7.7 8.7 Microdeletion (9) M3 Exclusion: Range: 1-14 BF015B1 F 7.7 8.7 Microdeletion (9) M4 Exclusion: Range: 1-6 BF001B1 M 10.7 2.0 Microdeletion (9) M1 c.549delT BF023B1 F 7.5 1.4 Duplication (10) M2 c.304dupC BF064B1 M 8.1 4.1 Insertion (11) M17 c.499_500insA BF124B1 F 10.0 8.0 Insertion (11) M1 c.502_503insG BF001B1 M 10.7 2.0 Insertion (11) M2 c.589_590insT BF012B1 F 9.0 9.0 Deletion/Insertion (12) M1 c.568_569delGGinsAA BF012B1 F 9.0 9.0 Deletion/Insertion (12) M10 c.568_569delGGinsAA BF012B1 F 9.0 9.0 Deletion/Insertion (12) M3 c.568_569delGGinsAA BF012B1 F 9.0 9.0 Deletion/Insertion (12) M4 c.568_569delGGinsAA BF012B1 F 9.0 9.0 Deletion/Insertion (12) M6 c.568_569delGGinsAA BF012B1 F 9.0 9.0 Deletion/Insertion (12) M7 c.568_569delGGinsAA BF012B1 F 9.0 9.0 Deletion/Insertion (12) M8 c.568_569delGGinsAA BF012B1 F 9.0 9.0 Deletion/Insertion (12) M9 c.568_569delGGinsAA BF101B1 M 9.1 3.3 Incompletely Characterized (16) M3 Exclusion: 2,3,4,5,6,7,8,9 BF124B1 F 10.0 8.0 Incompletely Characterized (16) M2 Exclusion: 8 Children 12-16 yrs. BF007B1 M 12.5 4.0 Transition (1) M7 c.212G>A BF019B1 F 13.2 4.0 Transition (1) M10 Inclusion: 1+1 to 1+49 BF102B1 F 13.5 3.4 Transition (1) M2 BF113B1 F 13.5 6.5 Transition (1) M1 c.568G>A BF113B1 F 13.5 6.5 Transition (1) M2 c.580G>A BF005B1 F 13.9 1.2 Transition (1) M4 c.617G>A BF021B1 F 15.2 4.3 CpG Transition (3) M10 c.508C>T BF007B1 M 12.5 4.0 Transversion (4) M6 c.135G>T BF102B1 F 13.5 3.4 Transversion (4) M4 c.617G>T BF021B1 F 15.2 4.3 Transversion (4) M3 Exclusion: 7 BF021B1 F 15.2 4.3 Transversion (4) M5 Exclusion: 7 BF007B1 M 12.5 4.0 Transversion (5) M1 c.648C>G BF007B1 M 12.5 4.0 Transversion (5) M2 Exclusion: 7 BF113B1 F 13.5 6.5 Transversion (5) M5 c.190G>C BF104B1 M 15.7 4.2 Transversion (5) M1 Exclusion: 7 BF004B1 M 13.2 7.0 Transversion (6) M2 Exclusion: Range: 610-626 BF019B1 F 13.2 4.0 Transversion (6) M5 Exclusion: 8 BF005B1 F 13.9 1.2 Transversion (7) M2 c.136A>C BF007B1 M 12.5 4.0 Exon Deletion (8) M10 BF007B1 M 12.5 4.0 Exon Deletion (8) M5 BF007B1 M 12.5 4.0 Exon Deletion (8) M9 BF004B1 M 13.2 7.0 Exon Deletion (8) M3 BF104B1 M 15.7 4.2 Exon Deletion (8) M5 BF006B1 F 12.5 1.9 Microdeletion (9) M3 c.165_169delGGAGA BF102B1 F 13.5 3.4 Microdeletion (9) M2 Exclusion: 2,3,4 BF006B1 F 12.5 1.9 Loss (10) M5 c.402losA BF113B1 F 13.5 6.5 Loss (10) M4 c.484losA BF006B1 F 12.5 1.9 Incompletely Characterized (16) M6 Exclusion: 8 BF006B1 F 12.5 1.9 Incompletely Characterized (16) M7 Exclusion: 2,3 BF007B1 M 12.5 4.0 Incompletely Characterized (16) M8 Exclusion: 8 Summary of HPRT Mutations from Adultsb Number ID SUBJECT SEX AGE MF Smoking Status MUTANT 311 2000H Male 23 20.0 Non-Smoke 2812F12 303 900H Male 29 21.0 Non-Smoke 91B8 304 900H Male 29 21.0 Non-Smoke 92F1 306 900H Male 29 21.0 Non-Smoke 91G10 79 sf21.1 Female 25 7.0 Smoker 35D8 118 sm25.1 Male 22 7.0 Smoker 49A1 69 nm28.1 Male 23 4.0 Non-Smoke 24 E7 94 sm30.1 Male 24 7.0 Smoker 66D7 93 nm19.1 Male 31 5.0 Non-Smoke 34F5 105 sm5.1 Male 38 2.0 Smoker 14B6 248 sf32 Female 29 5.0 Smoker 37 E11 244 nf45 Female 31 10.0 Non-Smoke 56B5 241 sf33 Female 31 10.0 Smoker 39B10 245 sf34 Female 31 10.0 Smoker 75C9 247 nf3 Female 45 4.0 Non-Smoke 20B2 243 nf43 Female 46 16.0 Non-Smoke 49H1 207 nm37 Male 20 4.0 Non-Smoke 77A9 219 nm31 Male 21 5.0 Non-Smoke 26H7 229 nm29 Male 23 5.0 Non-Smoke 58F9 222 sm2 Male 25 14.0 Smoker 14C11 212 nm46 Male 26 19.0 Non-Smoke 39 D6 238 nm17 Male 26 8.0 Non-Smoke 24A10 216 nm30 Male 27 5.0 Non-Smoke 17G1 231 nm35 Male 27 3.0 Non-Smoke 55B7 226 nm11 Male 29 9.0 Non-Smoke 59BD7 214 sm45 Male 31 7.0 Smoker 28G2 251 sm64 Male 32 12.0 Smoker 66F6 215 sm77 Male 37 5.0 Smoker 48F2 223 sm82 Male 37 13.0 Smoker 15A2 208 sm79 Male 38 8.0 Smoker 69H10 218 sm100 Male 39 12.0 Smoker 86F4 233 nm38 Male 40 4.0 Non-Smoke 27C1 235 nm38 Male 40 4.0 Non-Smoke 27 E2 213 sm41 Male 40 15.0 Smoker 66 E5 224 sm91 Male 41 12.0 Smoker 74C12 209 sm108 Male 42 11.0 Smoker 75 E7 242 sm92 Male 43 14.0 Smoker 59G10 230 sm38 Male 45 18.0 Smoker 18B3 221 sm113 Male 46 6.0 Smoker 38H1 236 sm75 Male 48 17.0 Smoker 88H12 225 sm90 Male 50 19.0 Smoker 79F3 314 325 Male 50 13.0 Smoker 325-3-21 319 325 Male 50 13.0 Smoker 325-2-20 320 325 Male 50 13.0 Smoker 325-2-21 334 325 Male 50 13.0 Smoker 325-2-28 338 325 Male 50 13.0 Smoker 325-3-10 341 325 Male 50 13.0 Smoker 325-3-33 6 17S Female 37 3.0 Smoker 17-2-29 297 42H Male 22 Non-Smoke 42 D2 286 89F42 Male 24 19.0 Non-Smoke 942/4 289 20A Male 25 Non-Smoke 20C11 296 53H Male 55 Non-Smoke 53A11 739 1M0 Female 66 27.0 Non-Smoke 1M0-4 752 14M0 Female 70 33.0 Smoker 14M0-16 726 4M0 Male 55 78.0 Smoker 4M0-8 786 4M0 Male 55 78.0 Smoker 4M0-2 738 7M0 Male 62 34.0 Non-Smoke 7M0-4 777 7M0 Male 62 34.0 Non-Smoke 7M0-14 780 7M0 Male 62 34.0 Non-Smoke 7M0-13 773 3M0 Male 63 132.0 Smoker 3M0-8 760 9M0 Male 77 28.0 Smoker 9M0-9 778 9M0 Male 77 28.0 Smoker 9M0-7 753 18M0 Male 82 45.0 Non-Smoke 18M0-1 59 16EO Female 75 18.0 Smoker 16E0-8 39 22EO Male 66 32.0 Smoker 22E0-5 28 8EO Male 68 73.0 Smoker 8E0-3 14 9EO Male 69 9.0 Smoker 9E0-1 32 3EO Male 77 25.0 Smoker 3E0-21 13 24EO Male 78 26.0 Non-Smoke 24E0-6 51 1EO Male 80 18.0 Smoker 1E0-5 52 1EO Male 80 18.0 Smoker 1E0-3 694 V128 Male 31 6.0 Non-Smoke V128 698 V127 Male 31 11.0 Non-Smoke V127 711 V127 Male 31 11.0 Non-Smoke V127 713 V127 Male 31 11.0 Non-Smoke V127 672 V124 Male 39 5.0 Non-Smoke V124 697 K28 Male 44 15.0 Non-Smoke K28 718 K33 Male 52 20.0 Non-Smoke K33 695 K25 Male 54 11.0 Non-Smoke K25 645 K27 Male 23 6.0 Non-Smoke K27 547 K34 Male 30 6.0 Non-Smoke K34 625 K34 Male 30 6.0 Non-Smoke K34 636 K32 Male 30 1.0 Non-Smoke K32 571 V127 Male 31 11.0 Non-Smoke V127 612 K37 Male 32 5.0 Non-Smoke K37 642 K26 Male 33 5.0 Non-Smoke K26 559 V123 Male 35 6.0 Non-Smoke V123 551 K29 Male 36 6.0 Non-Smoke K29 584 K29 Male 36 6.0 Non-Smoke K29 602 V148 Male 37 9.0 Non-Smoke V148 569 V133 Male 38 14.0 Non-Smoke V133 601 V150 Male 38 3.0 Non-Smoke V150 638 V150 Male 38 3.0 Non-Smoke V150 640 V150 Male 38 3.0 Non-Smoke V150 610 K28 Male 44 15.0 Non-Smoke K28 588 K33 Male 52 20.0 Non-Smoke K33 624 V141 Male 52 16.0 Non-Smoke V141 650 V132 Male 52 9.0 Non-Smoke V132 590 K25 Male 54 11.0 Non-Smoke K25 575 V143 Male 61 8.0 Non-Smoke V143 600 V143 Male 61 8.0 Non-Smoke V143 615 V137 Male 63 7.0 Non-Smoke V137 570 V136 Male 64 23.0 Non-Smoke V136 472 E Male 23 5.0 Non-Smoke JB67 D3E7 473 E Male 23 5.0 Non-Smoke BP31 A4C5 495 E Male 23 5.0 Non-Smoke JB67 D10D 497 E Male 23 5.0 Non-Smoke MF223 C7H 396 87ES Male 31 6.0 Non-Smoke 87ES3 404 88FG Male 39 4.0 Non-Smoke 88FG7 395 88FX Male 40 25.0 Non-Smoke 14 E1 283 13S Male 58 2.0 Non-Smoke #118 280 12S Male 59 5.0 Non-Smoke #117 263 Male 60 Non-Smoke #169 262 5S Male 70 13.0 Non-Smoke #105 254 3S Male 73 6.0 Non-Smoke #103 142 BC67 Female 35 15.0 Smoker BC67-18 370 34S Male 29 6.0 Smoker 34-30 374 34S Male 29 6.0 Smoker 34-45 375 437S Male 30 26.0 Non-Smoke 437-3 350 42S Male 56 6.0 Non-Smoke 42-32 371 42S Male 56 6.0 Non-Smoke 42-42 376 42S Male 56 6.0 Non-Smoke 42-9 451 89MA Male 19 4.0 Smoker 89MA4 461 90MX Male 33 10.0 Smoker 90MX5 426 89LN Male 39 6.0 Non-Smoke 89LN3 427 89LN Male 39 6.0 Non-Smoke 89LN1 449 88EZ Male 39 14.0 Smoker 88EZ4 452 89LX Male 41 12.0 Smoker 89LX2 301 4215H Male 22 22.0 Non-Smoke 4215B7 84 sf6.1 Female 20 8.0 Smoker 14 E1 78 sm6.1 Male 29 12.0 Smoker 24C9 239 sf27 Female 30 19.0 Smoker 17H8 232 nf39 Female 35 6.0 Non-Smoke 86F9 234 nf40 Female 41 12.0 Non-Smoke 8A6 165 sm47 Male 26 7.0 Smoker 66 E11 166 sm34 Male 26 6.0 Smoker 54B4 250 nm35 Male 27 3.0 Non-Smoke 59G4 152 nm91g Male 31 6.0 Non-Smoke 44B4 220 sm73 Male 36 10.0 Smoker 67B6 151 sm43 Male 37 18.0 Smoker 17 E4 246 sm41 Male 40 15.0 Smoker 68B12 210 sm95 Male 41 5.0 Smoker 34G10 249 sm62 Male 45 18.0 Smoker 44B10 340 325 Male 50 13.0 Smoker 325-2-16 755 1M0 Female 66 27.0 Non-Smoke 1M0-3 771 1M0 Female 66 27.0 Non-Smoke 1M0-15 774 1M0 Female 66 27.0 Non-Smoke 1M0-5 756 14M0 Female 70 33.0 Smoker 14M0-33 725 4M0 Male 55 78.0 Smoker 4M0-7 791 7M0 Male 62 34.0 Non-Smoke 7M0-7 36 16EO Female 75 18.0 Smoker 16E0-1 34 8EO Male 68 73.0 Smoker 8E0-11 30 15EO Male 83 15.0 Smoker 15E0-6 666 K34 Male 30 6.0 Non-Smoke K34 663 K30 Male 35 9.0 Non-Smoke K30 668 K30 Male 35 9.0 Non-Smoke K30 709 V135 Male 37 9.0 Non-Smoke V135 667 K36 Male 40 7.0 Non-Smoke K36 627 K27 Male 23 6.0 Non-Smoke K27 603 K26 Male 33 5.0 Non-Smoke K26 620 V123 Male 35