All mutations described in supplementary table 2 are somatic mutations. GenBank (June 25th 2007) and Ensembl build 45_36g transcripts were used for annotation. A ranking system was developed to select transcript/gene for annotating each variant. Prioritization is based on transcript status (eg. validated over unknown), variant classification (eg. missense over silent), and other features (eg. longer protein length over shorter protein length). An additional germline L858R mutation was identified in EGFR in tumor: normal pair 16606:16605 but was not included because of its status. November 4th 2008 update: FLT1 ins allele (sample: 16678; position: 27793650) has been reverse complemented to "A". November 6th 2008 update: ENST00000369065 was in Ensembl build 46 and now has been withdrawn. This affects the annotation of line 253 in supplementary table 2. November 8th update: ENST00000354862 has been UPDATED and should be NAT6. This affects the annotation of line 315 in supplementary table 2. ENST00000371701(http://www.ensembl.org/Homo_sapiens/idhistoryview?transcript=ENST00000371701) has been withdrawn from Ensembl. This affects the annotation of line 603 in supplementary table 2. ENST00000354647 (http://www.ensembl.org/Homo_sapiens/idhistoryview?transcript=ENST00000354647) has been withdrawn from Ensembl. This affects the annotation of lines 816 and 817 in supplementary table 2. New annotations using currently available transcripts for the 5 affected mutations are listed in the last three columns (see below). chr2:122473483 mutation is no longer within available Ensembl transcripts. IFRD2 7866 3 50309166 50309166 Missense SNP - ENST00000354862 p.P266S c.796 G 16640 A G 16639 G G - Validated probably_damaging - - Novel: No Cosmic File Novel: Amino Acid ENST00000354862 has been UPDATED and should be NAT6 intronic ENST00000066014 NULL FGFR2 2263 10 122473483 122473483 Missense SNP - ENST00000369065 p.R785K c.2354 C 17060 C T 17089 C C Verified Validated benign tolerated<>1.00 - Novel: Amino Acid Novel: Amino Acid ENST00000369065 was in Ensembl build 46 and now has been withdrawn NOTCH1 4851 9 138509250 138509250 Missense SNP - ENST00000371701 p.G89C c.265 C 17308 A C 17307 C C Verified Validated probably_damaging - - Novel: Amino Acid Novel: Amino Acid ENST00000371701 http://www.ensembl.org/Homo_sapiens/idhistoryview?transcript=ENST00000371701 has been withdrawn from Ensembl 3_prime_untranslated_region ENST00000277541 NULL SEMA3B 7869 3 50286866 50286866 Missense SNP - ENST00000354647 p.R400L c.1199 G 17042 G T 17071 G G Verified Validated - deleterious<>0.02 - Novel: No Cosmic Amino Acid Novel: Amino Acid ENST00000354647 http://www.ensembl.org/Homo_sapiens/idhistoryview?transcript=ENST00000354647 has been withdrawn from Ensembl Silent_Mutation ENST00000316347 p.A401 SEMA3B 7869 3 50286980 50286980 Missense SNP - ENST00000354647 p.P438L c.1313 C 17210 C T 17209 C C Verified Validated - deleterious<>0.00 - Novel: No Cosmic Amino Acid Novel: Amino Acid ENST00000354647 http://www.ensembl.org/Homo_sapiens/idhistoryview?transcript=ENST00000354647 has been withdrawn from Ensembl Silent_Mutation ENST00000316347 p.A439