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Table 2 Somatic mutations in the two SMZL analyzed by WES

From: Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations

Gene Case Chr Position Exon Coverage tumor SNV frequency Quality scorea Nucleotide change AA change SIFT prediction PolyPhen-2 prediction
CEBPZ 1 2 37.456.150 2 21 0.38 27.0 c.186 T > A p.D62E Tolerated Benign
MYD88 1 3 38.182.641 5 49 0.49 30.0 c.794 T > C p.L265P Damaging Probably damaging
TTC14 1 3 180.320.802 2 21 0.24 32.0 c.285A > G p.E95Eb Tolerated Benign
SLC6A7 1 5 149.574.417 2 33 0.27 23.0 c.160 T > C p.C54R Damaging Probably damaging
BTN2A2 1 6 26.384.057 2 29 0.24 32.0 c.8C > T p.P3L Damaging Possibly damaging
POM121 1 7 72.396.892 5 41 0.29 20.0 c.737C > T p.P246L Damaging Probably damaging
MUC12 1 7 100.645.822 2 32 0.25 31.0 c.12407C > A p.P4136H Tolerated Probably damaging
STMN4 1 8 27.098.767 5 40 0.25 30.0 c.203A > C p.D68A Damaging Benign
KRTAP5-2 1 11 1.619.441 1 20 0.35 27.0 c.40 T > C p.C14R N/A Possibly damaging
CACNA1C 1 12 2.794.937 47 63 0.25 20.0 c.5823C > T p.T1941M Tolerated N/A
LOC728888 1 16 29.395.118   61 0.15 18.0 c.1135G > T p.G379W Damaging Probably damaging
CDC27 1 17 45.247.333 4 42 0.26 28.0 c.327G > T p.E109D Tolerated Benign
FBXO44 2 1 11.718.850 4 21 0.19 20.28 c.421G > A p.V141I Tolerated Benign
NOTCH2 2 1 120.458.255 34 65 0.48 22.0 c.7090C > T p.Q2364c Stop gained N/A
SMYD1 2 2 88.396.251 6 26 0.50 26.0 c.836G > T p.C279F Damaging Probably damaging
ZNF608 2 5 123.982.418 4 73 0.33 26.0 c.3659A > G p.D1220G Damaging Probably damaging
ZNF451 2 6 57.013.380 10 30 0.20 24.93 c.2497 T > C p.F833L Tolerated Benign
PDE10A 2 6 165.829.696 13 116 0.37 22.0 c.1072G > A p.A358T Tolerated Probably damaging
PCLO 2 7 82.784.519 2 57 0.18 17.0 c.1438C > T p.P480S Tolerated Benign
PRSS1 2 7 142.460.369 4 26 0.23 19.0 c.542G > A p.S181N Tolerated Benign
CSMD1 2 8 2.800.055 69 74 0.36 24.0 c.8683A > T p.I2895F Damaging N/A
APOA4 2 11 116.692.500 3 20 0.35 31.0 c.274G > A p.A92T Tolerated Benign
HERC2 2 15 28.458.971 42 23 0.22 25.97 c.6703C > A p.R2235S Tolerated Possibly damaging
CDC27 2 17 45.229.185 9 90 0.23 29.0 c.1075G > C p.G359R Tolerated Possibly damaging
GRIN2C 2 17 72.842.984 10 39 0.44 23.0 c.2077C > T p.R693C Damaging Probably damaging
  1. AA amino acid, Chr chromosome, N/A not applicable, SIFT Sorting Tolerant from Intolerant Algorithm, SNV[space]single nucleotide variant
  2. acalculated by Bioscope algorithm
  3. bsplice site
  4. cStop gained