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Table 1 Results of WGS of the choriocarcinoma and placenta

From: A case of intraplacental gestational choriocarcinoma; characterised by the methylation pattern of the early placenta and an absence of driver mutations

Gene_NameStart PositionEnd PositionVariant ClassificationRefAltcDNA ChangeProtein ChangeTumour mutant frequencyNormal mutant frequency
GIGYF2233712210233712230Inframe deletionCAGCAGCAGCAGCTGCCACAG-c.3689_3709
delTGCCACAGCA
GCAGCAGCAGC
p.Leu1230_
Gln1236del
0.1110
LOC101929543170064859170064859missense_variantGTc.460G>Tp.Gly154Cys0.1080
LOC101928951143582475143582475missense_variantCTc.698C>Tp.Ala233Val0.1380
ANKRD20A5P1418800314188003splice_acceptor_variantGAn.791-1G>A.0.160
NBPF9144823176144823176missense_variantCAc.1077C>Ap.Pro360Thr0.1840.021
C64119995941199959missense_variantGTc.356C>Ap.Ala119Glu0.1670
IQSEC3176139176139missense_variantATc.91A>Tp.Thr31Ser0.0980
IGFBP34596064545960645missense_variantGCc.95C>Gp.Ala32Gly0.1090.021
  1. The results of the WGS analysis from the tumour and placenta are shown. The results indicate a very low level of mutation within the tumour. There were no mutations in any oncogenes. The mutations noted are unlikely to be of biological importance