Table 1. CCLE cell lines with reported nonsense mutations, frameshift deletions or insertions, or in-frame deletions in TSC1 and TSC2 [adapted from 27, 28].
tumor sample | allele ratio var/ total | genome change, hg19 | variant classification | variant type | reference allele | tumor seq. allele | cDNA change | codon change | protein change |
---|---|---|---|---|---|---|---|---|---|
TSC1, chromosome 9 | |||||||||
PEER_HAEM_AND_LYMPH | 1.00 | g.chr9:135798751C>T | Nonsense_Mutation | SNP | C | T | c.492G>A | c.(490–492)TGG>TGA | p.(Trp164*) |
KM12_LARGE_INTESTINE | 0.56 | g.chr9:135797261_135797261delA | Frame_Shift_Del | DEL | A | - | c.608_608delT | c.(607–609)TTGfs | p.(Leu203Cysfs*7) |
2313287_STOMACH | 0.52 | g.chr9:135785954G>A | Intron | SNP | G | A | c.1263+4C>T | ||
CW2_LARGE_INTESTINE | 0.47 | g.chr9:135781157_135781157delG | Frame_Shift_Del | DEL | G | - | c.1808_1808delC | c.(1807–1809)CCGfs | p.(Pro603Argfs*26) |
TSC2, chromosome 16 | |||||||||
NCIH1651_LUNG | 0.33 | g.chr16:2100401G>T | Nonsense_Mutation | SNP | G | T | c.139G>T | c.(139–141)GAA>TAA | p.(Glu47*) |
CW2_LARGE_INTESTINE | 0.60 | g.chr16:2108787_2108788insT | Frame_Shift_Ins | INS | - | T | c.888_889insT | c.(886–891)GTGTTTfs | p.(Val299Cysfs*39) |
HEC151_ENDOMETRIUM | 0.42 | g.chr16:2121790_2121791insAG | Frame_Shift_Ins | INS | - | AG | c.1952_1953insAG | c.(1951–1953)CCAfs | p.(Gly654Glufs*45) |
DV90_LUNG | 0.36 | g.chr16:2121791_2121792delAG | Frame_Shift_Del | DEL | AG | - | c.1953_1954delAG | c.(1951–1956)CCAGAGfs | p.(Gly654Leufs*2) |
OVK18_OVARY | 0.67 | g.chr16:2121791_2121792delAG | Frame_Shift_Del | DEL | AG | - | c.1953_1954delAG | c.(1951–1956)CCAGAGfs | .(Gly654Leufs*2) |
MFE319_ENDOMETRIUM | 0.42 | g.chr16:2122880C>T | Nonsense_Mutation | SNP | C | T | c.2251C>T | c.(2251–2253)CGA>TGA | p.(Arg751*) |
SNU-886_LIVER | 0.97 | g.chr16:2129160C>T | Nonsense_Mutation | SNP | C | T | c.3094C>T | c.(3094–3096)CGA>TGA | p.(Arg1032*) |
SNU-878_LIVER | 1.00 | g.chr16:2134999C>G | Nonsense_Mutation | SNP | C | G | c.4541C>G | c.(4540–4542)TCA>TGA | p.(Ser1514*) |
HEC151_ENDOMETRIUM | 0.45 | g.chr16:2138565G>A | Missense_Mutation | SNP | G | A | c.5378G>A | c.(5377–5379)CGG>CAG | p.(Arg1793Gln) |
HCC95_LUNG | 0.60 | g.chr16:2138578_2138580delCTC | In_Frame_Del | DEL | CTC | - | c.5391_5393delCTC | c.(5389–5394)ATCTCC>ATC | p.(Ser1799del) |