Table 2. SETDB1 mutations identified in 78 MPMs from 69 patients and previously reported.

ID	Protein change	aNucleotide change	Mutation type	dPolyPhen-2	eSIFT	Predicted function	Mutant ratio
777T	Y249X	747T>A		nonsense		Loss of function	0.91
869T	G869E	2606G>A	missense	damaging	damaging	Damaging	0.51
163T	C911F	2732G>T	missense	damaging	tolerated	Uncertain	0.49
324T	S947C	2840C>G	missense	benign	damaging	Uncertain	0.61
970T	P226RfsX4	677_693del17	frameshift			Loss of function	0.19
981T	P226RfsX4	677_693del17	frameshift			Loss of function	0.23
1278T	F1250del	3747_3749del	in-frame del			Uncertain	0.14
bACCMESO1	V132EfsX3	395_399del5	frameshift			Loss of function
cNYU695	K674SfsX73	2020delA	frameshift			Loss of function

^aNM_001145415.1

^bPreviously reported mutation: ACCMESO1 - V132fs (CCLE, http://www.broadinstitute.org/ccle)

^cPreviously reported mutation: NYU695 - p.K674fs [18]

^dhttp://genetics.bwh.harvard.edu/pph2/

^ehttp://sift.jcvi.org/