Table 1.
Missense variants from exome sequencing of WBC and two consecutive PA derived DNA samples
| Location | Ref /Alt allele | Gene | CDS position | Protein position | Amino acids | SIFT | PolyPhen | Locus coverage/alternative variant depth | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| WBC | 1st tumour | 2nd tumour | |||||||||
| Somatic variants of the both tumours | 5:140712358a | G/A | PCDHGA1 | 2107 | 703 | V/I | 0.18 | 0.021 | 41/0 | 40/34 (85%) | 30/12 (40%) |
| 11:107375677 | A/T | ALKBH8 | 1702 | 568 | C/S | 0.43 | 0 | 41/0 | 80/27 (34%) | 43/13 (30%) | |
| 11:111951148 | T/A | C11orf57 | 99 | 33 | D/E | 0 | 0.721 | 22/0 | 76/4 (5.3%) | 70/17 (24%) | |
| 11:62301128 | C/T | AHNAK | 761 | 254 | G/E | 0.18 | 0.999 | 94/0 | 64/29 (45%) | 38/13 (34%) | |
| 14:95669606a | A/G | CLMN | 2080 | 694 | C/R | 0.03 | 0 | 36/0 | 151/51 (34%) | 260/75 (29%) | |
| 16:2855123 | G/T | PRSS41 | – | – | – | – | – | 105/0 | 73/11 (15%) | 58/14 (24%) | |
| 17:38189695 | T/G | MED24 | 631 | 211 | I/L | 0.07 | 0.003 | 26/0 | 62/2 (3.2%) | 63/14 (22%) | |
| 19:53384666a | C/A | ZNF320 | 713 | 238 | S/I | 1 | 0.005 | 55/0 | 9/1 (11%) | 27/10 (37%) | |
| 20:23731308 | G/T | CST1 | 196 | 66 | R/S | 0 | 0.985 | 53/0 | 252/103 (41%) | 241/125 (52%) | |
| X:63444842 | C/G | ASB12 | 689 | 230 | C/S | 0.02 | 0.977 | 112/0 | 651/228 (35%) | 632/234 (37%) | |
| Somatic variants of the second tumour | 2:11593766 | T/C | E2F6 | 97 | 33 | N/D | 0 | 0.132 | 125/0 | 150/0 | 117/13 (11%) |
| 2:61349274 | T/C | KIAA1841 | 2134 | 712 | F/L | 0.13 | 0.001 | 25/0 | 7/0 | 12/6 (50%) | |
| 3:100058013 | G/C | NIT2 | 90 | 30 | E/D | 0.06 | 0.005 | 22/0 | 34/0 | 38/6 (16%) | |
| 5:112178502 | T/C | APC | 7211 | 2404 | M/T | 0.54 | 0 | 86/0 | 18/0 | 30/7 (23%) | |
| 5:118552606 | A/C | DMXL1 | 7937 | 2646 | D/A | 0 | 0.234 | 22/0 | 4/0 | 6/5 (83%) | |
| 5:176797955 | A/C | RGS14 | 1177 | 393 | T/P | 0 | 0.962 | 1/0 | 15/0 | 42/10 (24%) | |
| 6:109480584 | A/C | CEP57L1 | 935 | 312 | D/A | 0.88 | 0.08 | 30/0 | 11/0 | 20/6 (30%) | |
| 6:109983834 | G/T | AK9 | 364 | 122 | Q/K | 0.06 | 0.738 | 37/0 | 1/0 | 69/19 (28%) | |
| 6:128326254 | C/T | PTPRK | 2499 | 833 | M/I | 0.02 | 0.024 | 90/0 | 3/0 | 16/7 (44%) | |
| 8:17417949 | A/G | SLC7A2 | 1411 | 471 | R/G | 0.41 | 0 | 133/0 | 13/0 | 33/8 (24%) | |
| 9:123751971 | G/A | C5 | 3029 | 1010 | A/V | 0.21 | 0.713 | 75/0 | 25/0 | 23/8 (35%) | |
| 10:120801963 | A/C | EIF3A | 3069 | 1023 | D/E | 0.12 | 0.005 | 75/0 | 21/0 | 43/15 (35%) | |
| 11:16812380 | C/T | PLEKHA7 | 3017 | 1006 | G/D | 0.12 | 0.575 | 57/0 | 8/0 | 32/6 (19%) | |
| 11:77911754 | G/A | USP35 | 1097 | 366 | G/E | 0.02 | 0.212 | 74/0 | 13/0 | 20/7 (35%) | |
| 12:113730866 | G/A | TPCN1 | 2457 | 819 | M/I | 0.17 | 0.053 | 88/0 | 70/0 | 25/10 (40%) | |
| 16:31371749 | G/C | ITGAX | 826 | 276 | A/P | 0 | 0.999 | 15/0 | 7/0 | 12/7 (58%) | |
| Variants with expansion | 4:85707175 | C/T | WDFY3 | 4019 | 1340 | R/Q | 0 | 0.787 | 53/1 (1.9%) | 37/14 (38%) | 23/10 (43%) |
| 6:132171199 | A/G | ENPP1 | 383 | 128 | E/G | 0.38 | 0.003 | 70/1 (1.4%) | 75/2 (2.7%) | 34/10 (29%) | |
aCosmic database variant (5:140712358, PCDHGA1, 703 V/I, COSV65295567; 14:95669606, CLMN, 694C/R, COSV54187254; 19:53384666, ZNF320, 238S/I, COSV67089305)