Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error DENND2D 79961 genome.wustl.edu 36 1 111543793 111543793 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 111543793 111543793 G T SNP DENND2D NM_024901 human genbank 54_36p -1 provisional missense c.218 p.P73H 1 NULL - - no_errors MOV10 4343 genome.wustl.edu 36 1 113034079 113034079 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 113034079 113034079 G A SNP MOV10 NM_020963 human genbank 54_36p 1 validated silent c.672 p.S224 NULL - - no_errors HIST2H2AB 317772 genome.wustl.edu 36 1 148125788 148125788 + Silent SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 148125788 148125788 G T SNP HIST2H2AB NM_175065 human genbank 54_36p -1 reviewed silent c.303 p.V101 1 NULL - - no_errors FLG2 388698 genome.wustl.edu 36 1 150595558 150595558 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 150595558 150595558 T A SNP FLG2 NM_001014342 human genbank 54_36p -1 provisional missense c.1328 p.E443V NULL - - no_errors IQGAP3 128239 genome.wustl.edu 36 1 154788499 154788499 + Silent SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 154788499 154788499 G C SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.1461 p.A487 0.95 NULL - - no_errors FCRL1 115350 genome.wustl.edu 36 1 156040398 156040398 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 156040398 156040398 G A SNP FCRL1 NM_052938 human genbank 54_36p -1 provisional silent c.180 p.A60 NULL - - no_errors DARC 2532 genome.wustl.edu 36 1 157442218 157442231 + Frame_Shift_Del DEL GCACTCGCAGCTCT GCACTCGCAGCTCT - novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 GCACTCGCAGCTCT GCACTCGCAGCTCT GCACTCGCAGCTCT - GCACTCGCAGCTCT GCACTCGCAGCTCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 157442218 157442231 GCACTCGCAGCTCT - DEL DARC NM_002036 human genbank 54_36p 1 reviewed frame_shift_del c.365_378 p.T123fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL - (deletion:cds_exon[157441875;157442864]) no_errors ENAH 55740 genome.wustl.edu 36 1 223768935 223768935 + Silent SNP T T G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 223768935 223768935 T G SNP ENAH NM_001008493 human genbank 54_36p -1 validated silent c.1204 p.R402 0.99 NULL HMMPfam_WH1;HMMPfam_VASP_tetra;superfamily_PH domain-like - no_errors EPHB2 2048 genome.wustl.edu 36 1 23112740 23112740 + Silent SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 23112740 23112740 C A SNP EPHB2 ENST00000374630 human ensembl 54_36p 1 known silent c.2958 p.G986 0.661 NULL HMMPfam_Ephrin_lbd,HMMPfam_Pkinase_Tyr,HMMPfam_SAM_1,HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_Growth factor receptor domain,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like) - no_errors KIF26B 55083 genome.wustl.edu 36 1 243876204 243876207 + Frame_Shift_Del DEL AAGT AAGT - novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 AAGT AAGT AAGT - AAGT AAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 243876204 243876207 AAGT - DEL KIF26B NM_018012 human genbank 54_36p 1 provisional frame_shift_del c.2257_2258 p.K753fs 1.000:1.000 NULL - (deletion:cds_exon[243876046;243876205]; intron[243876206;243914157]) no_errors SPOCD1 90853 genome.wustl.edu 36 1 32038045 32038045 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 1 32038045 32038045 G C SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.1735 p.P579A NULL - - no_errors ANK3 288 genome.wustl.edu 36 10 61501621 61501621 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 10 61501621 61501621 G C SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.9024 p.H3008Q 0.14 NULL HMMPfam_Death;HMMPfam_ZU5;HMMPfam_Ank;superfamily_Ankyrin repeat;superfamily_DEATH domain - no_errors MYST4 23522 genome.wustl.edu 36 10 76459441 76459441 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 10 76459441 76459441 G T SNP MYST4 NM_012330 human genbank 54_36p 1 validated missense c.4853 p.S1618I 0.94 NULL "PHD;HMMPfam_PHD;MOZ_SAS;HMMPfam_MOZ_SAS;FYVE/PHD zinc finger;superfamily_FYVE/PHD zinc finger;""Winged helix"" DNA-binding domain;superfamily_""Winged helix"" DNA-binding domain;Acyl-CoA N-acyltransferases (Nat);superfamily_Acyl-CoA N-acyltransferases (Nat)" - no_errors ALG9 79796 genome.wustl.edu 36 11 111229327 111229327 + Nonsense_Mutation SNP C T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 11 111229327 111229327 C T SNP ALG9 NM_024740 human genbank 54_36p -1 reviewed nonsense c.882 p.W294* 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SNX19 399979 genome.wustl.edu 36 11 130290258 130290258 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 11 130290258 130290258 C A SNP SNX19 NM_014758 human genbank 54_36p -1 validated missense c.787 p.V263L HMMPfam_PXA HMMPfam_PX;HMMPfam_PXA;HMMPfam_Nexin_C;superfamily_PX domain - no_errors HIPK3 10114 genome.wustl.edu 36 11 33315267 33315268 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 GA GA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 11 33315267 33315268 GA TT DNP HIPK3 NM_005734 human genbank 54_36p 1 validated missense c.1292_1293 p.R431I 1.000:1.000 HMMPfam_Pkinase HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors PEX16 9409 genome.wustl.edu 36 11 45892454 45892454 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 11 45892454 45892454 G A SNP PEX16 NM_057174 human genbank 54_36p -1 reviewed missense c.683 p.P228L 1 HMMPfam_Pex16 HMMPfam_Pex16 - no_errors OR5B21 219968 genome.wustl.edu 36 11 58031744 58031744 + Silent SNP A A G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 11 58031744 58031744 A G SNP OR5B21 NM_001005218 human genbank 54_36p -1 provisional silent c.411 p.G137 NULL - - no_errors SLC38A1 81539 genome.wustl.edu 36 12 44881235 44881235 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 12 44881235 44881235 T C SNP SLC38A1 NM_001077484 human genbank 54_36p -1 validated missense c.916 p.K306E 1 NULL - - no_errors ERBB3 2065 genome.wustl.edu 36 12 54773433 54773433 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 12 54773433 54773433 G A SNP ERBB3 NM_001982 human genbank 54_36p 1 reviewed missense c.1312 p.V438I 0.82 HMMPfam_Recep_L_domain superfamily_Growth factor receptor domain;superfamily_Protein kinase-like (PK-like);superfamily_L domain-like;Recep_L_domain;HMMPfam_Recep_L_domain;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;Furin-like;HMMPfam_Furin-like - no_errors RB1 5925 genome.wustl.edu 36 13 47931968 47931968 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 13 47931968 47931968 C A SNP RB1 NM_000321 human genbank 54_36p 1 reviewed missense c.2104 p.Q702K 1 HMMPfam_RB_B RB_B;HMMPfam_RB_B;RB_A;HMMPfam_RB_A;Rb_C;HMMPfam_Rb_C - no_errors PCDH9 5101 genome.wustl.edu 36 13 65777069 65777069 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 13 65777069 65777069 G A SNP PCDH9 NM_203487 human genbank 54_36p -1 reviewed missense c.3433 p.P1145S 1 NULL HMMPfam_Cadherin;HMMPfam_Cadherin_2;HMMPfam_Protocadherin;superfamily_Cadherin-like - no_errors RALGAPA1 253959 genome.wustl.edu 36 14 35078573 35078573 + Missense_Mutation SNP T C C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 14 35078573 35078573 T C SNP GARNL1 NM_194301 human genbank 54_36p -1 provisional missense c.6178 p.M2060V 1 NULL - - no_errors NID2 22795 genome.wustl.edu 36 14 51604632 51604632 + Splice_Site SNP C C G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 14 51604632 51604632 C G SNP NID2 NM_007361 human genbank 54_36p -1 validated splice_site c.229-1 e2-1 1 - - - no_errors uc003vyo.2 0 genome.wustl.edu 36 7 141838407 141838407 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 7 141838407 141838407 C A SNP uc003vyo.2 ENST00000390371 human ensembl 54_36p 1 known missense c.266 p.T89N NULL - - no_stop_codon:bad_bp_length_for_coding_region ENSG00000208891 0 genome.wustl.edu 36 4 142438465 142438465 + RNA SNP C C G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 4 142438465 142438465 C G SNP ENSG00000208891 ENST00000386156 human ensembl 54_36p -1 novel rna NULL NULL - - - pseudogene PDIA3 2923 genome.wustl.edu 36 15 41845419 41845419 + Missense_Mutation SNP G T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 15 41845419 41845419 G T SNP PDIA3 NM_005313 human genbank 54_36p 1 reviewed missense c.762 p.L254F 1 NULL - - no_errors VWA3A 146177 genome.wustl.edu 36 16 22051738 22051738 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 16 22051738 22051738 A G SNP VWA3A NM_173615 human genbank 54_36p 1 validated missense c.1310 p.Y437C 0.96 NULL - - no_errors CD2BP2 10421 genome.wustl.edu 36 16 30272056 30272056 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 16 30272056 30272056 C G SNP CD2BP2 NM_006110 human genbank 54_36p -1 reviewed missense c.862 p.E288Q 1 NULL - - no_errors KARS 3735 genome.wustl.edu 36 16 74220871 74220871 + Silent SNP C T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 16 74220871 74220871 C T SNP KARS NM_005548 human genbank 54_36p -1 reviewed silent c.1494 p.A498 1 HMMPfam_tRNA-synt_2 HMMPfam_tRNA-synt_2;HMMPfam_tRNA_anti;superfamily_Nucleic acid-binding proteins;superfamily_Class II aaRS and biotin synthetases - no_errors BRCA1 672 genome.wustl.edu 36 17 38497279 38497280 + Frame_Shift_Ins INS - - TT novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 - - - TT - - Unknown Valid Somatic 4 Capture 454_PCR_WGA;Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 17 38497279 38497280 - TT INS BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_ins c.3795_3794 p.N1265fs 0.024:0.006 NULL superfamily_BRCT domain;superfamily_RING/U-box;BRCT;HMMPfam_BRCT;zf-C3HC4;HMMPfam_zf-C3HC4 - no_errors TP53 7157 genome.wustl.edu 36 17 7514728 7514728 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 17 7514728 7514728 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1024 p.R342* 0.4 HMMPfam_P53_tetramer superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors WDR45L 56270 genome.wustl.edu 36 17 78167729 78167729 + Silent SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 17 78167729 78167729 C A SNP WDR45L NM_019613 human genbank 54_36p -1 reviewed silent c.888 p.P296 0.79 NULL - - no_errors HAUS1 115106 genome.wustl.edu 36 18 41962078 41962078 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 18 41962078 41962078 A T SNP CCDC5 NM_138443 human genbank 54_36p 1 validated missense c.826 p.M276L 1 NULL - - no_errors ZNF101 94039 genome.wustl.edu 36 19 19651934 19651934 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 19 19651934 19651934 G T SNP ZNF101 NM_033204 human genbank 54_36p 1 provisional missense c.1136 p.S379I HMMPfam_zf-C2H2 HMMPfam_KRAB;HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers - no_errors YSK4 80122 genome.wustl.edu 36 2 135465585 135465585 + Missense_Mutation SNP T T C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 2 135465585 135465585 T C SNP YSK4 NM_025052 human genbank 54_36p -1 validated missense c.610 p.S204G 0.96 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors SCN1A 6323 genome.wustl.edu 36 2 166608698 166608698 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 2 166608698 166608698 G A SNP SCN1A NM_006920 human genbank 54_36p -1 validated silent c.1770 p.F590 1 NULL HMMPfam_IQ;HMMPfam_Ion_trans;HMMPfam_Na_trans_assoc;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors INHA 3623 genome.wustl.edu 36 2 220148263 220148263 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 2 220148263 220148263 G C SNP INHA NM_002191 human genbank 54_36p 1 reviewed missense c.872 p.C291S 1 HMMPfam_TGF_beta HMMPfam_TGF_beta;superfamily_Cystine-knot cytokines - no_errors C2orf16 84226 genome.wustl.edu 36 2 27657848 27657848 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 2 27657848 27657848 G C SNP C2orf16 NM_032266 human genbank 54_36p 1 validated missense c.4905 p.Q1635H 0.01 NULL - - no_errors DLGAP4 22839 genome.wustl.edu 36 20 34493861 34493861 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 20 34493861 34493861 G C SNP DLGAP4 NM_014902 human genbank 54_36p 1 reviewed missense c.327 p.E109D 1 NULL - - no_errors HAO1 54363 genome.wustl.edu 36 20 7869060 7869060 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 20 7869060 7869060 G A SNP HAO1 NM_017545 human genbank 54_36p -1 reviewed missense c.10 p.R4W 0.05 NULL HMMPfam_FMN_dh;superfamily_FMN-linked oxidoreductases - no_errors C21orf62 56245 genome.wustl.edu 36 21 33088423 33088423 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 21 33088423 33088423 C A SNP C21orf62 NM_019596 human genbank 54_36p -1 validated missense c.180 p.M60I 1 NULL - - no_errors CBY1 25776 genome.wustl.edu 36 22 37394077 37394077 + Silent SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 22 37394077 37394077 G A SNP CBY1 NM_001002880 human genbank 54_36p 1 reviewed silent c.72 p.L24 0.99 NULL - - no_errors MCAT 27349 genome.wustl.edu 36 22 41863110 41863110 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 22 41863110 41863110 G T SNP MCAT NM_173467 human genbank 54_36p -1 reviewed missense c.650 p.S217Y 0.04 HMMPfam_Acyl_transf_1 HMMPfam_Acyl_transf_1;superfamily_FabD/lysophospholipase-like;superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase - no_errors STXBP5L 9515 genome.wustl.edu 36 3 122619938 122619938 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 3 122619938 122619938 T G SNP STXBP5L NM_014980 human genbank 54_36p 1 validated missense c.3363 p.S1121R 0.19 NULL - - no_errors CELSR3 1951 genome.wustl.edu 36 3 48672956 48672956 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 3 48672956 48672956 C T SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed missense c.2116 p.G706S 1 HMMPfam_Cadherin HMMPfam_GPS;HMMPfam_7tm_2;HMMPfam_HRM;HMMPfam_Laminin_EGF;HMMPfam_Cadherin;HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_Cadherin-like;superfamily_EGF/Laminin - no_errors CACNA1D 776 genome.wustl.edu 36 3 53506237 53506237 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 3 53506237 53506237 G T SNP CACNA1D NM_000720 human genbank 54_36p 1 validated missense c.86 p.G29V 1 NULL - - no_errors LOC100129622 100129622 genome.wustl.edu 36 10 42552611 42552611 + Splice_Site SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 10 42552611 42552611 G A SNP LOC100129622 XM_001724175 human genbank 54_36p 1 model splice_site c.463+1 e4+1 1 - - - pseudogene SLC36A2 153201 genome.wustl.edu 36 5 150685145 150685145 + Missense_Mutation SNP C A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 5 150685145 150685145 C A SNP SLC36A2 NM_181776 human genbank 54_36p -1 validated missense c.905 p.G302V 1 NULL - - no_errors LATS1 9113 genome.wustl.edu 36 6 150045932 150045932 + Silent SNP T C C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 6 150045932 150045932 T C SNP LATS1 NM_004690 human genbank 54_36p -1 reviewed silent c.1986 p.K662 1 NULL UBA;HMMPfam_UBA;Pkinase;HMMPfam_Pkinase;Pkinase_C;HMMPfam_Pkinase_C - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32280085 32280085 + Missense_Mutation SNP T T A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 6 32280085 32280085 T A SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed missense c.2925 p.Q975H 0.99 HMMPfam_EGF HMMPfam_Notch;HMMPfam_Ank;superfamily_Ankyrin repeat;HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_NODP;HMMPfam_EGF_CA;superfamily_EGF/Laminin;superfamily_Notch domain - no_errors CLIC5 53405 genome.wustl.edu 36 6 45978899 45978899 + Silent SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 6 45978899 45978899 G A SNP CLIC5 NM_016929 human genbank 54_36p -1 validated silent c.660 p.N220 0.97 NULL - - no_errors RIMS1 22999 genome.wustl.edu 36 6 73031872 73031872 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 6 73031872 73031872 C A SNP RIMS1 NM_014989 human genbank 54_36p 1 validated missense c.3253 p.H1085N 0.38 NULL HMMPfam_C2;HMMPfam_PDZ;superfamily_PDZ domain-like;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);superfamily_FYVE/PHD zinc finger - no_errors EXOC4 60412 genome.wustl.edu 36 7 133230893 133230893 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 7 133230893 133230893 G A SNP EXOC4 NM_021807 human genbank 54_36p 1 reviewed missense c.1736 p.S579N 1 NULL HMMPfam_Sec8_exocyst - no_errors HIPK2 28996 genome.wustl.edu 36 7 138935823 138935823 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 7 138935823 138935823 G A SNP HIPK2 NM_022740 human genbank 54_36p -1 validated missense c.1166 p.T389I 1 NULL - - no_errors MGAM 8972 genome.wustl.edu 36 7 141396976 141396976 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 7 141396976 141396976 A G SNP MGAM NM_004668 human genbank 54_36p 1 reviewed missense c.2648 p.E883G 0.01 NULL HMMPfam_Glyco_hydro_31;HMMPfam_Trefoil;superfamily_Trefoil;superfamily_(Trans)glycosidases - no_errors CYP3A43 64816 genome.wustl.edu 36 7 99295550 99295550 + Splice_Site SNP G G T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 7 99295550 99295550 G T SNP CYP3A43 NM_022820 human genbank 54_36p 1 reviewed splice_site c.1026+1 e10+1 1 - - - no_errors ANGPT1 284 genome.wustl.edu 36 8 108384722 108384723 + Frame_Shift_Ins INS - - TT novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 - - - TT - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 8 108384722 108384723 - TT INS ANGPT1 NM_001146 human genbank 54_36p -1 reviewed frame_shift_ins c.858_857 p.C286fs 1.000:1.000 HMMPfam_Fibrinogen_C HMMPfam_Fibrinogen_C;superfamily_Fibrinogen C-terminal domain-like - no_errors CSPP1 79848 genome.wustl.edu 36 8 68250188 68250188 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 8 68250188 68250188 G C SNP CSPP1 NM_001077204 human genbank 54_36p 1 validated missense c.3162 p.K1054N 1 NULL - - no_errors INVS 27130 genome.wustl.edu 36 9 102044713 102044713 + Silent SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 9 102044713 102044713 G A SNP INVS NM_014425 human genbank 54_36p 1 reviewed silent c.837 p.K279 1 HMMPfam_Ank HMMPfam_IQ;HMMPfam_Ank;superfamily_Ankyrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors BTK 695 genome.wustl.edu 36 X 100494971 100494971 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 X 100494971 100494971 G A SNP BTK NM_000061 human genbank 54_36p -1 reviewed missense c.1775 p.S592F 1 HMMPfam_Pkinase_Tyr HMMPfam_SH2;HMMPfam_Pkinase_Tyr;HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_BTK;HMMPfam_PH;superfamily_Protein kinase-like (PK-like);superfamily_PH domain-like;superfamily_SH2 domain - no_errors ATXN3L 92552 genome.wustl.edu 36 X 13247265 13247265 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 395c1d93-7216-4c9d-bfad-26ff95fb8afe adc2fdad-5ea9-40fc-939c-52b4031226c0 X 13247265 13247265 C T SNP ATXN3L ENST00000380622 human ensembl 54_36p -1 known missense c.710 p.R237H 1 HMMPfam_UIM HMMPfam_UIM;HMMPfam_Josephin - no_errors