Table 2.
Variants identified by targeted next-generation sequencing in the penile cancer-derived cell cultures.
| ID | Gene | Classification | Chr: Location |
Type of Alteration | dbSNP | Transcript | Base Change |
|---|---|---|---|---|---|---|---|
| Cell 2/tumor 2 | PIK3CA | P | 3:17,8936,082 | Missense | rs121913273 | NM_006218.4 | c.1624G > A |
| Cell 2/tumor 2 | PIK3CA | P | 3:178,936,093 | Missense | rs121913275 | NM_006218.4 | c.1635G > C |
| Cell 2/tumor 2 | FGFR1 | VUS | 8:38,270,403 | Other | rs1364534792 | NM_023110.3 | c.*743dupA |
| Cell 2 | MMP1 | VUS | 11:102,667,445 | Missense | NM_002421.4 | c.575G > C | |
| Cell 2 | STAT3 | P | 17:40,486,045 | LoF | NM_139276.2 | c.820C > T | |
| Cell 3 | - | ||||||
| Cell 4 | RAD50 | VUS | 5:131,953,850 | Missense | rs143189763 | NM_005732.4 | c.3253A > G |
| Cell 4 | MMP1 | VUS | 11:102,668,717 | LoF | rs139018071 | NM_002421.4 | c.105+2T > C |
| Cell 4 | FLT3 | LP | 13:28,589,804 | Missense | rs903856095 | NM_004119.3 | c.2576G > A |
| Cell 5/tumor 5 | COL11A1 | LP | 1:103,380,339 | Missense | NM_001854.4 | c.3845G > T | |
| Cell 5/tumor 5 | ALK | VUS | 2:29,455,260 | Missense | NM_004304.5 | c.2542G > A | |
| Cell 5/tumor 5 | PIK3CA | P | 3:178,952,085 | Missense | rs121913279 | NM_006218.4 | c.3140A > G |
| Cell 5/tumor 5 | FBXW7 | LP | 4:153,247,367 | Missense | rs747241612 | NM_001349798.2 | c.1435C > G |
| Cell 5/tumor 5 | NOTCH1 | P | 9:139,413,064 | LoF | NM_017617.5 | c.1078G > T | |
| Cell 5/tumor 5 | BRCA2 | P | 13:32,968,951 | LoF | rs80359212 | NM_000059.3 | c.9382C > T |
| Cell 5/tumor 5 | IGF1R | VUS | 15:99507206 | Other | NM_000875.5 | c.*6535T > G | |
| Cell 5/tumor 5 | NF1 | VUS | 17:29,702,854 | Other | rs909909591 | NM_001042492.3 | c.*1683_*1685delGAA |
| Cell 5/tumor 5 | SMAD4 | LP | 18:48,575,116 | Missense | NM_005359.6 | c.310C > T | |
| Cell 6/tumor 6 | Near APC | VUS | 5:112,043,188 | upstream transcript variant | rs1554060178 | NC_000005.10 | 112707490:C:G |
| Tumor 6 | MLH3 | VUS | 14:75,483,802 | Missense | NM_001040108.1 | c.4345C > T | |
| Tumor 6 | ERBB2 | LP | 17:37,866,662 | Missense | NM_004448.3 | c.829G > T |
Chr: chromosome. c. represents the coding sequence position. LoF: Loss of function. P: Pathogenic. LP: Likely pathogenic. VUS: variant of uncertain significance. dbSNP: The Single Nucleotide Polymorphism Database