Figure S1: BAP1 42 nt frameshift deletion in AA2476T (A) A fraction (14%) of reads from whole exome sequencing align to BAP1 with a 42 nt deletion. (B).

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Figure S1: BAP1 42 nt frameshift deletion in AA2476T (A) A fraction (14%) of reads from whole exome sequencing align to BAP1 with a 42 nt deletion. (B). The sequencing reads from targeted validation map to BAP1 with a perfect match (N=673 reads) or with a 42nt deletion (N=160 reads). TruSeq amplicons are indicated (lower track). (C) Agarose gel electrophoresis analysis of the BAP1 PCR amplicon spanning the deleted fragment. NTC: Non Template control. Figure S1

AA2476TAA2463T AA2617TAA2489TAA2528T AA2273TAA1968TAA2253T AA1844T Figure S2 Figure S2: BAP1 Copy Number Analysis. A 30 MB region surrounding BAP1 gene (blue dot) shows evidence of Loss of Heterozygosity (B Allele Frequency – Y axis) in 5/9 tumors (bold red frames). AA1844T LoH is likely subclonal as the B allele frequency only deviates mildly from 0.5.

AA2476TAA2463T AA2617TAA2489TAA2528T AA2273TAA1968TAA2253T AA1844T Figure S3 Figure S3: CDKN2A Copy Number Analysis. A 20 MB region surrounding CDKN2A gene (blue dot) shows no evidence of Loss of Heterozygosity (B Allele Frequency – Y axis) in the 9 tumors analyzed (red segments).

AA2476TAA2463T AA2617TAA2489TAA2528T AA2273TAA1968TAA2253T AA1844T Figure S4 Figure S4: NF2 Copy Number Analysis. A 20 MB region surrounding NF2 gene (blue dot) shows no evidence of Loss of Heterozygosity (B Allele Frequency – Y axis) in the 9 tumors analyzed (red segments).