Table 3.
VAF of the 20 somatic candidate variants studied in S5 patient.
| Chr | Position | Gene | Type | Whole blood | Whole blood post | Urine | Oral mucosa | Neutrophils | Monocytes | B cells | TCD4 | TCD8 | Control1 | Control2 | Validated |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1 | 153,003,501 | SPRR3 | Missense | 7.7216 | 3.7419 | 7.3138 | 1.6876 | 7.165 | 9.5398 | 0.1088 | 0.1049 | 0.0976 | 0.0832 | 0.1081 | YES |
| chr1 | 247,425,355 | NLRP3 | Missense | 24.6228 | 12.4922 | 25.3693 | 7.0918 | 24.3422 | 33.993 | 0.0825 | 0.0794 | 0.0787 | 0.0437 | 0.0571 | YES |
| chr2 | 24,300,108 | ITSN2 | Missense | 4.7359 | 3.4122 | 5.0154 | 1.8296 | 5.6246 | 2.2179 | 0.3675 | 0.1288 | 0.1415 | 0.1035 | 0.1628 | YES |
| chr2 | 209,888,127 | UNC80 | Synonimous | 26.5932 | 13.452 | 28.2002 | 6.9989 | 26.8757 | 34.7143 | 0.2961 | 0.2798 | 0.2896 | 0.2373 | 0.2993 | YES |
| chr2 | 219,251,622 | TUBA4A | Synonimous | 4.5508 | 3.2531 | 4.6625 | 1.3055 | 5.3645 | 1.9301 | 0.2923 | 0.1629 | 0.1553 | 0.0815 | 0.1322 | YES |
| chr3 | 52,913,506 | SFMBT1 | Missense | 1.4477 | 1.2013 | 1.3699 | 0.4748 | 1.7193 | 1.453 | 2.5658 | 0.1158 | 0.1569 | 0.062 | 0.068 | YES |
| chr4 | 143,695,587 | FREM3 | Missense | 24.3856 | 12.176 | 24.6201 | 6.1085 | 23.192 | 31.5614 | 0.167 | 0.1334 | 0.1238 | 0.0887 | 0.1295 | YES |
| chr4 | 165,059,454 | TRIM60-TMEM192 | Intergenic | 0.073 | 0.0596 | 0.0601 | 0.0673 | 0.0659 | 0.0515 | 0.0646 | 0.0892 | 0.0532 | 0.0676 | 0.0533 | NO |
| chr6 | 36,270,463 | PNPLA1 | Missense | 4.8759 | 4.0553 | 5.5917 | 1.7713 | 6.4759 | 2.6609 | 0.3096 | 0.0835 | 0.0768 | 0.0657 | 0.0772 | YES |
| chr6 | 52,082,518 | PKHD1 | Missense | 26.3027 | 12.7771 | 27.3696 | 6.8415 | 26.0161 | 35.482 | 0.1139 | 0.1225 | 0.0916 | 0.0923 | 0.111 | YES |
| chr6 | 151,349,029 | AKAP12 | Missense | 1.496 | 1.2648 | 1.6739 | 0.4203 | 1.8367 | 1.2469 | 2.7175 | 0.0769 | 0.1867 | 0.0872 | 0.0911 | YES |
| chr7 | 157,614,060 | PTPRN2 | Intronic | 47.7712 | 48.8889 | 46.9676 | 46.2124 | 49.503 | 48.0925 | 48.1535 | 43.1712 | 46.6121 | 0.0656 | 0.0674 | NO |
| chr9 | 91,410,553 | NFIL3 | Missense | 0.1427 | 0.1298 | 0.127 | 0.1367 | 0.109 | 0.0848 | 0.1351 | 0.118 | 0.1174 | 0.129 | 0.1463 | NO |
| chr11 | 111,853,480 | ALG9 | Synonimous | 4.2723 | 3.1181 | 4.6411 | 1.3842 | 5.2542 | 2.2404 | 0.2136 | 0.2158 | 0.229 | 0.1434 | 0.2365 | YES |
| chr12 | 128,705,237 | TMEM132C | Missense | 2.4998 | 1.2072 | 2.4715 | 0.5706 | 2.2107 | 3.4175 | 0.1087 | 0.0703 | 0.0635 | 0.081 | 0.0814 | YES |
| chr13 | 24,912,928 | CENPJ | Missense | 1.5069 | 1.1153 | 1.8446 | 0.6136 | 1.8944 | 0.9268 | 1.2501 | 0.1418 | 0.2347 | 0.0655 | 0.0754 | YES |
| chr17 | 50,840,691 | WFIKKN2 | Missense | 4.1908 | 2.7357 | 4.4201 | 1.3373 | 4.4152 | 1.9862 | 0.1779 | 0.1208 | 0.1042 | 0.0674 | 0.0797 | YES |
| chr19 | 16,529,871 | CHERP | Synonimous | 4.6041 | 2.2909 | 4.4651 | 1.1656 | 4.6677 | 5.4904 | 0.1021 | 0.1105 | 0.0973 | 0.0697 | 0.0885 | YES |
| chr20 | 13,915,139 | SEL1L2 | Intronic | 24.5724 | 11.9959 | 24.142 | 6.1982 | 23.3935 | 33.2716 | 0.0564 | 0.0719 | 0.0733 | 0.0562 | 0.0869 | YES |
| chrX | 71,537,899 | OGT | Missense | 49.978 | 25.1551 | 48.1124 | 12.4303 | 48.9245 | 32.2739 | 0.2688 | 0.275 | 0.2301 | 0.1665 | 0.2497 | YES |
In bold, values below the sequencing error threshold.