Table 2.
Filtering | S1a | S1b | S2 | S3a | S3b | S4 | S5a | S5b | S6 | S7a | S7b | S8 | S9 | S10 | S11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
On target (VarDict − VarScan2) |
298,250 173,072 |
363,209 101,637 |
239,526 266,542 |
286,381 200,507 |
241,135 453,494 |
382,519 119,025 |
231,469 263,604 |
312,808 245,467 |
276,040 273,296 |
293,494 176,720 |
315,825 171,718 |
274,664 317,568 |
191,603 720,791 |
223,731 261,383 |
302,540 172,629 |
Intersection | 48,715 | 44,246 | 49,871 | 51,066 | 70,617 | 49,399 | 52,849 | 61,889 | 62,644 | 53,951 | 51,705 | 58,201 | 64,366 | 50,684 | 53,268 |
6pb indels | 48,187 | 43,598 | 49,246 | 50,477 | 69,885 | 48,451 | 52,286 | 61,126 | 61,954 | 53,382 | 50,880 | 57,646 | 63,757 | 50,157 | 52,621 |
1000G mask | 35,864 | 31,825 | 37,231 | 37,437 | 55,243 | 35,592 | 39,619 | 47,635 | 48,200 | 40,621 | 38,732 | 44,829 | 50,966 | 37,963 | 39,983 |
DP > 50 | 34,091 | 27,692 | 36,459 | 35,706 | 54,052 | 31,989 | 38,734 | 45,779 | 46,668 | 37,906 | 35,927 | 42,349 | 49,958 | 33,123 | 36,816 |
QUAL > 25 | 33,771 | 27,346 | 35,991 | 35,272 | 53,184 | 31,542 | 38,295 | 45,035 | 45,851 | 37,388 | 35,353 | 41,439 | 48,835 | 32,584 | 36,282 |
LoF & missense | 18,476 | 15,154 | 19,998 | 18,929 | 31,534 | 18,100 | 21,148 | 26,962 | 27,596 | 22,103 | 20,585 | 24,283 | 28,888 | 18,518 | 21,472 |
gnomAD < 0.001 | 12,135 | 10,119 | 13,562 | 11,980 | 24,001 | 12,871 | 14,427 | 20,553 | 21,178 | 16,281 | 14,781 | 17,977 | 21,910 | 12,711 | 15,634 |
CADD > 15 | 9,035 | 7,904 | 10,085 | 8,864 | 19,044 | 9,994 | 10,828 | 16,271 | 16,808 | 12,662 | 11,077 | 13,887 | 17,086 | 9,547 | 12,155 |
GERP > 2 | 7,787 | 6,771 | 8,703 | 7,604 | 16,486 | 8,582 | 9,374 | 13,979 | 14,498 | 10,953 | 9,528 | 11,976 | 14,633 | 8,161 | 10,409 |
VD ≥ 3 | 6,977 | 6,086 | 7,446 | 6,528 | 14,473 | 7,720 | 8,560 | 12,509 | 13,231 | 9,764 | 8,181 | 9,719 | 11,024 | 5,162 | 8,991 |
Candidate genes | 174 | 177 | 174 | 172 | 319 | 219 | 187 | 276 | 275 | 226 | 255 | 263 | 243 | 144 | 229 |
The last step where the causal somatic variant is retained is shown in bold.