Mutation and expression analysis in medulloblastoma yields prognostic variants and a putative mechanism of disease for i17q tumors

Table 1 Mutations identified in 57 consecutive medulloblastoma cases

Sample	Location	Gene	Exonic function	Damaging	Chr	Start	Ref	Obs
32	Exonic; splicing	GPS2	Splice site	--	chr17	7217225	C	T
41	Exonic; splicing	KDM6A	Frameshift insertion	--	chrX	44969494	-	GG
17	Exonic	MLL3	Nonsynonymous	4/4	chr7	151859899	G	A
16	Exonic	MLL3	Nonsynonymous	2/4	chr7	151860230	G	C
16	Exonic	MLL3	Nonsynonymous	1/4	chr7	151877127	G	T
21	Exonic	MLL3	Nonsynonymous	4/4	chr7	151879265	G	T
21	Exonic	MLL3	Stopgain	--	chr7	151900023	A	T
13	Exonic	MLL3	Stopgain	--	chr7	151874686	G	A
21	Exonic	MLL3	Nonsynonymous	3/4	chr7	151875073	G	A
30	Exonic	MLL3	Nonsynonymous	3/3	chr7	151927021	C	A
28	Exonic	MLL3	Nonsynonymous	1/4	chr7	151919690	C	T
33	Exonic	MLL3	Nonsynonymous	3/4	chr7	151970877	G	A
20	Exonic	MLL3	Nonsynonymous	2/4	chr7	151945568	C	T

“Damaging” is the number of mutation analysis programs (out of four) that predict altered protein function as a result of the variant. Please note that these programs do not make predictions for stopgain, frameshift, or splice site change mutations.

ISSN: 2051-5960