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. 2021 Apr 23;16(4):e0248380. doi: 10.1371/journal.pone.0248380

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)