Gene | Patient ID | CDS mutation | Amino Acid change | CADD Score | MAF | |||
---|---|---|---|---|---|---|---|---|
tumour DNA | Pre-cfDNA | Post-cfDNA | WBC | |||||
TP53 | ESCC01 | c.1036G > T | p.Glu346* | 44 | 24.9% | 2.2% | – | – |
c.673-2A > G | . | 23 | 43.9% | 2.3% | – | – | ||
ESCC02 | c.733G > A | p.Gly245Ser | 35 | 43.0% | – | – | – | |
c.839G > C | p.Arg280Thr | 33 | 20.2% | – | – | – | ||
ESCC03 | c.614A > G | p.Tyr205Cys | 24 | 73.7% | – | – | – | |
ESCC04 | c.223_229delCCTGCAC | p.Pro75fs | 20 | 76.1% | 1.7% | – | – | |
ESCC05 | c.364_365insT | p.Thr123fs | 35 | 85.2% | – | – | – | |
ESCC06 | c.551_554delATAG | p.Asp184fs | 33 | 10.7% | – | – | – | |
ESCC07 | c.920-1G > T | . | 25 | 14.4% | NA | – | – | |
ESCC08 | c.770_782 + 10delTGGAAGACTCCAGGTCAGGAGCC | p.Leu257fs | 33 | 18.3% | 0.9% | – | – | |
ESCC09 | c.643A > G | p.Ser215Gly | 29 | 29.3% | 2.3% | – | – | |
ESCC10 | c.481G > A | p.Ala161Thr | 27 | 66.2% | 2.8% | – | – | |
ESCC11 | c.844C > T | p.Arg282Trp | 33 | 27.1% | NA | – | – | |
ESCC13 | 33 | 21.9% | – | – | – | |||
ESCC12 | c.643A > C | p.Ser215Arg | 27 | 27.9% | – | – | – | |
ESCC14 | c.742C > T | p.Arg248Trp | 34 | 27.3% | 0.9% | – | – | |
c.818G > A | p.Arg273His | 27 | 15.0% | – | – | – | ||
NOTCH1 | ESCC01 | c.4672dupG | p.Leu1559fs | 35 | 57.6% | 4.9% | – | – |
c.1070 T > C | p.Phe357Ser | 29 | 13.6% | 2.1% | – | – | ||
ESCC02 | c.1359_1361delCAA | p.Asn454del | 19 | 62.7% | – | – | – | |
ESCC05 | c.867_868insC | p.Gln290fs | 29 | 83.2% | – | – | – | |
ESCC08 | c.928G > A | p.Gly310Arg | 27 | 26.8% | 0.6% | – | – | |
ESCC09 | c.4646G > T | p.Cys1549Phe | 29 | 27.6% | 1.8% | – | – | |
KMT2D | ESCC02 | c.12823C > T | p.Gln4275* | 41 | 43.8% | – | – | – |
c.14119C > G | p.Pro4707Ala | 18 | 20.3% | – | – | – | ||
ESCC05 | c.636delA | . | 1 | 30.4% | – | – | – | |
ESCC08 | c.9730delG | p.Glu3244fs | 35 | 13.5% | – | – | – | |
KMT2C | ESCC04 | n.-1G > A | . | 6 | 19.5% | – | – | – |
ESCC11 | c.569G > A | p.Arg190Gln | 24 | 15.2% | NA | – | – | |
ESCC14 | c.11953G > A | p.Gly3985Arg | 24 | 12.7% | 0.6% | 0.4% | – | |
CDKN2A | ESCC09 | c.316 + 1G > T | . | 27 | 28.8% | 2.6% | – | – |
c.172C > T | p.Arg58* | 35 | 27.0% | 1.8% | – | – | ||
ESCC10 | 35 | 65.5% | 1.4% | – | – | |||
ESCC14 | c.488G > A | p.Arg163Gln | 34 | 42.6% | – | – | – | |
ETV6 | ESCC01 | c.329-72C > T | . | 4 | 21.1% | – | – | – |
ESCC04 | c.464-2686G > C | . | 2 | 36.2% | 0.6% | – | – | |
ESCC10 | c.164-14646G > A | . | 2 | 20.3% | 0.7% | – | – |