TABLE 1.
The list of Catalogue Of Somatic Mutations In Cancer (COSMIC)‐annotated variants identified in the KUCaP13 cell line by whole‐exome sequencing
| Chromosome | Start | End | Reference nucleotide | Alternative nucleotide | Gene | Variant type | COSMIC annotation | Total reads | Variant reads | Variant allele frequency |
|---|---|---|---|---|---|---|---|---|---|---|
| 1p34.2 | 43394663 | 43394663 | G | A | SLC2A1 | Synonymous SNV | ID=COSM1296455;OCCURENCE=1(urinary_tract) | 328 | 204 | 0.622 |
| 1q32.2 | 210415576 | 210415576 | A | G | SERTAD4 | Nonsynonymous SNV | ID=COSM1929444;OCCURENCE=1(liver) | 97 | 72 | 0.742 |
| 1q44 | 248801602 | 248801602 | ‐ | CA | OR2T35 | Stopgain | ID=COSM246232;OCCURENCE=1(prostate),1(large_intestine) | 203 | 194 | 0.956 |
| 3p21.2 | 52027854 | 52027859 | CCTTGG | ‐ | RPL29 | Nonframeshift deletion | ID=COSM3720236;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) | 11 | 6 | 0.545 |
| 8q12.1 | 55542355 | 55542355 | C | A | RP1 | Nonsynonymous SNV | ID=COSM486530;OCCURENCE=1(kidney) | 123 | 78 | 0.634 |
| 10q23.31 | 89685287 | 89685287 | A | G | PTEN | Nonsynonymous SNV | ID=COSM5042;OCCURENCE=5(central_nervous_system),3(lung) | 58 | 58 | 1 |
| 12q24.31 | 122359397 | 122359397 | ‐ | GAGGAGGAGGAGAAA | WDR66 | Nonframeshift insertion | ID=COSM1359529;OCCURENCE=1(breast),13(large_intestine) | 39 | 24 | 0.615 |
| 12q24.31 | 125478381 | 125478381 | ‐ | CTG | BRI3BP | Nonframeshift insertion | ID=COSM3720593;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) | 24 | 23 | 0.958 |
| 15q15.1 | 42246020 | 42246020 | C | T | EHD4 | Nonsynonymous SNV | ID=COSM187750;OCCURENCE=1(large_intestine) | 185 | 93 | 0.503 |
| 16p13.13 | 11850204 | 11850204 | G | A | ZC3H7A | Synonymous SNV | ID=COSM3817183;OCCURENCE=1(breast) | 69 | 39 | 0.565 |
| 17p13.1 | 7578222 | 7578223 | TC | ‐ | TP53 | Frameshift deletion | ID=COSM392317,COSM392319,COSM13120,COSM392318,COSM392316;OCCURENCE=2(lung),1(oesophagus),2(central_nervous_system),3(large_intestine),1(pancreas),1(breast),1(ovary) | 155 | 154 | 0.994 |
| 17q21.2 | 38975308 | 38975319 | GCCGCCGTGGCC | ‐ | KRT10 | Nonframeshift deletion | ID=COSM1323981;OCCURENCE=1(ovary) | 105 | 75 | 0.714 |
| 17q23.3 | 61571327 | 61571327 | G | A | ACE | Nonsynonymous SNV | ID=COSM3403103,COSM3403102,COSM3403101;OCCURENCE=1(central_nervous_system) | 266 | 166 | 0.624 |
| Xp21.3 | 27765400 | 27765411 | GAGGAGGAGGAG | ‐ | DCAF8L2 | Nonframeshift deletion | ID=COSM1625801;OCCURENCE=1(liver) | 61 | 36 | 0.59 |
| Xq13.1 | 69497289 | 69497289 | G | A | ARR3 | Synonymous SNV | ID=COSM194905;OCCURENCE=1(large_intestine) | 193 | 193 | 1 |
Only the variants with allele frequency of >0.5 are listed.
COSMIC, Catalogue Of Somatic Mutations In Cancer; SNV, single nucleotide variant.