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. Author manuscript; available in PMC: 2013 Jan 1.
Published in final edited form as: J Pathol. 2011 Nov 10;226(1):7–16. doi: 10.1002/path.2995

Table 1. Recurrent mutations and recurrently mutated genes seen in three or more libraries.

List of genes with recurrent or more than one non-synonymous change. Sixteen tumour and matched normal exomes were sequenced and SNV calls were annotated. Novel non-synonymous mutations were identified by filtering against the normal pileup and dbSNP129. All mutations were manually curated using the IGV browser.

Gene Chr Position Sample(s) Nucleotide
(cDNA)
Amino Acid
IDH1 2 208821357 HS1893, HS2040, HS2042, HS2805, HS2806, HS2807, HS2808, HS2809, HS2810, HS2811, HS2812, HS2813, HS2815, HS3124 c. 395 C > T p.R132H
CIC 19 47483558 HS2040 c.604 C > T p.R202W
CIC 19 47483100 HS2814 c.142 G > A p.G107E
CIC 19 47488171 HS2813 c.2980 C > T p.Q994*
CIC 19 47483598 HS2815 c.644 G > A p.R215Q
CIC 19 47483690 HS2810 c.736 A > G p.K246E
CIC 19 47490900 HS2045 c.4544 G > T p.R1515L
CIC 19 47490900 HS3124 c.4544 G > A p.R1515H
CIC 19 47483580 HS2805 c.626 T > G p.I209S
CIC 19 47483653–47483655 HS2807 DEL:CCT
CIC 19 47486863–47486864 HS2806 DEL:AA
CIC 19 47490858-47490858 HS2814 INS:A
NOTCH1 9 138528889 HS2805, HS2811 c.2101 T > G p.T701P
NOTCH1 9 138532470 HS2811 c.1195 T > G p.T399P
NOTCH1 9 138522244 HS3124 c.3494 C > T p.G1165D
NOTCH1 9 138532105–138532107 HS2814 DEL:TTG
IDH2 15 88432842 HS2045, HS2814 c.515 C > T p.R172K
PCDH8 13 52318741 HS2805, HS2811 c.1832 T > G p.H611P