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 LOC100129138 100129138 genome.wustl.edu 36 1 104417150 104417150 + RNA SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 104417150 104417150 C T SNP LOC100129138 XR_036957 human genbank 54_36p 1 model rna NULL NULL 0.917 - - - no_errors KCNA3 3738 genome.wustl.edu 36 1 111018156 111018156 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 111018156 111018156 C T SNP KCNA3 NM_002232 human genbank 54_36p -1 reviewed missense c.799 p.A267T 0.054 NULL - - no_errors SV2A 9900 genome.wustl.edu 36 1 148149002 148149002 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 148149002 148149002 C A SNP SV2A NM_014849 human genbank 54_36p -1 validated missense c.955 p.G319W 1 NULL - - no_errors MEF2D 4209 genome.wustl.edu 36 1 154718872 154718872 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 154718872 154718872 G C SNP MEF2D NM_005920 human genbank 54_36p -1 provisional missense c.239 p.T80S 1 NULL - - no_errors CLCNKA 1187 genome.wustl.edu 36 1 16223895 16223895 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 16223895 16223895 C T SNP CLCNKA NM_004070 human genbank 54_36p 1 reviewed missense c.280 p.L94F 1 NULL - - no_errors TLR5 7100 genome.wustl.edu 36 1 221352673 221352673 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 221352673 221352673 G T SNP TLR5 NM_003268 human genbank 54_36p -1 validated nonsense c.324 p.Y108* 0.01 NULL - - no_errors CHRM3 1131 genome.wustl.edu 36 1 238138701 238138701 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 238138701 238138701 G A SNP CHRM3 NM_000740 human genbank 54_36p 1 reviewed missense c.1327 p.V443I 0.02 NULL - - no_errors ZNF683 257101 genome.wustl.edu 36 1 26566839 26566839 + Missense_Mutation SNP C C G Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 26566839 26566839 C G SNP ZNF683 NM_173574 human genbank 54_36p -1 validated missense c.151 p.D51H 0.014 NULL - - no_errors MTF1 4520 genome.wustl.edu 36 1 38076900 38076900 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 38076900 38076900 C T SNP MTF1 NM_005955 human genbank 54_36p -1 reviewed missense c.763 p.G255R 1 NULL - - no_errors CYP4Z2P 163720 genome.wustl.edu 36 1 47097990 47097990 + RNA SNP A A C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 1 47097990 47097990 A C SNP CYP4Z2P NR_002788 human genbank 54_36p -1 provisional rna NULL NULL 0.99 - - - pseudogene PKD2L1 9033 genome.wustl.edu 36 10 102046741 102046741 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 10 102046741 102046741 G T SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed missense c.1171 p.L391M 1 HMMPfam_PKD_channel HMMPfam_PKD_channel;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors ANO4 121601 genome.wustl.edu 36 12 100014552 100014552 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 12 100014552 100014552 G A SNP ANO4 NM_178826 human genbank 54_36p 1 validated missense c.1741 p.G581R 1 NULL - - no_errors ANAPC5 51433 genome.wustl.edu 36 12 120242632 120242633 + Missense_Mutation DNP GC GC AT novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 12 120242632 120242633 GC AT DNP ANAPC5 NM_016237 human genbank 54_36p -1 reviewed missense c.1454_1453 p.A485I 1.000:0.998 NULL superfamily_TPR-like - no_errors PITPNM2 57605 genome.wustl.edu 36 12 122037918 122037918 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 12 122037918 122037918 C T SNP PITPNM2 NM_020845 human genbank 54_36p -1 validated silent c.3276 p.T1092 0.01 NULL HMMPfam_IP_trans;HMMPfam_DDHD;HMMPfam_LNS2;superfamily_Bet v1-like;superfamily_HAD-like - no_errors TMEM132D 121256 genome.wustl.edu 36 12 128750620 128750620 + Missense_Mutation SNP G G A Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 12 128750620 128750620 G A SNP TMEM132D NM_133448 human genbank 54_36p -1 validated missense c.656 p.P219L 0.001 NULL - - no_errors OVCH1 341350 genome.wustl.edu 36 12 29539634 29539634 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 12 29539634 29539634 A G SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.305 p.V102A 0.58 HMMPfam_Trypsin HMMPfam_CUB;superfamily_Spermadhesin CUB domain;HMMPfam_Trypsin;superfamily_Trypsin-like serine proteases - no_errors CEP290 80184 genome.wustl.edu 36 12 87001786 87001786 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 12 87001786 87001786 C A SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.4781 p.S1594I 1 NULL superfamily_Spectrin repeat;superfamily_Translin - no_errors COL4A2 1284 genome.wustl.edu 36 13 109880245 109880245 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 13 109880245 109880245 C T SNP COL4A2 NM_001846 human genbank 54_36p 1 reviewed missense c.490 p.P164S 1 HMMPfam_Collagen HMMPfam_C4;HMMPfam_Collagen;superfamily_C-type lectin-like - no_errors OCA2 4948 genome.wustl.edu 36 15 25674149 25674149 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 15 25674149 25674149 C A SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed missense c.2497 p.V833L 0.57 NULL HMMPfam_CitMHS - no_errors SLC12A1 6557 genome.wustl.edu 36 15 46308807 46308807 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 15 46308807 46308807 A T SNP SLC12A1 NM_000338 human genbank 54_36p 1 validated missense c.854 p.D285V 1 HMMPfam_AA_permease HMMPfam_AA_permease;HMMPfam_AA_permease_N - no_errors CYP11A1 1583 genome.wustl.edu 36 15 72423214 72423214 + Silent SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 15 72423214 72423214 A G SNP CYP11A1 NM_000781 human genbank 54_36p -1 reviewed silent c.798 p.H266 1 HMMPfam_p450 HMMPfam_p450;superfamily_Cytochrome P450 - no_errors SETD1A 9739 genome.wustl.edu 36 16 30884446 30884446 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 16 30884446 30884446 C T SNP SETD1A NM_014712 human genbank 54_36p 1 provisional silent c.1743 p.D581 1 NULL HMMPfam_RRM_1;HMMPfam_SET;superfamily_RNA-binding domain RBD;superfamily_SET domain - no_errors KIAA0182 23199 genome.wustl.edu 36 16 84262153 84262153 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 16 84262153 84262153 C T SNP KIAA0182 NM_014615 human genbank 54_36p 1 validated missense c.3467 p.A1156V 1 NULL - - no_errors MYH4 4622 genome.wustl.edu 36 17 10291102 10291102 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 17 10291102 10291102 G C SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.5122 p.Q1708E 1 HMMPfam_Myosin_tail_1 HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_Myosin_tail_1;HMMPfam_Myosin_N;superfamily_Prefoldin;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors NUFIP2 57532 genome.wustl.edu 36 17 24637892 24637892 + Missense_Mutation SNP T C C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 17 24637892 24637892 T C SNP NUFIP2 NM_020772 human genbank 54_36p -1 validated missense c.1246 p.N416D 1 NULL - - no_errors CDK12 51755 genome.wustl.edu 36 17 34872213 34872214 + Frame_Shift_Del DEL CT CT - Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 CT CT CT - CT CT Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 17 34872213 34872214 CT - DEL CRKRS NM_016507 human genbank 54_36p 1 validated frame_shift_del c.363_364 p.L122fs 0.061:0.049 NULL Pkinase,HMMPfam_Pkinase (deletion:cds_exon[34871851,34872896]) no_errors TOP2A 7153 genome.wustl.edu 36 17 35822720 35822721 + Frame_Shift_Ins INS - - CCAG novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 17 35822720 35822721 - CCAG INS TOP2A NM_001067 human genbank 54_36p -1 reviewed frame_shift_ins c.606_605 p.E203fs 0.949:0.985 HMMPfam_HATPase_c HMMPfam_DNA_topoisoIV;HMMPfam_HATPase_c;superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase;HMMPfam_DTHCT;HMMPfam_DNA_gyraseB;superfamily_Type II DNA topoisomerase;superfamily_Ribosomal protein S5 domain 2-like - no_errors ITGA2B 3674 genome.wustl.edu 36 17 39813519 39813519 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 17 39813519 39813519 C T SNP ITGA2B NM_000419 human genbank 54_36p -1 reviewed missense c.1414 p.G472R 0.88 HMMPfam_FG-GAP HMMPfam_Integrin_alpha;HMMPfam_FG-GAP;HMMPfam_Integrin_alpha2;superfamily_Integrin domains;superfamily_Integrin alpha N-terminal domain - no_errors RNMTL1 55178 genome.wustl.edu 36 17 632586 632586 + Missense_Mutation SNP A A G Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 17 632586 632586 A G SNP RNMTL1 NM_018146 human genbank 54_36p 1 provisional missense c.218 p.K73R 0 NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C A A rs28934576 Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 17 7517845 7517845 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273L 0.81 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors DCC 1630 genome.wustl.edu 36 18 48937840 48937840 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 18 48937840 48937840 C G SNP DCC NM_005215 human genbank 54_36p 1 validated missense c.1378 p.Q460E 1 HMMPfam_fn3 HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_Neogenin_C;HMMPfam_I-set;superfamily_Immunoglobulin - no_errors ATP9B 374868 genome.wustl.edu 36 18 75164596 75164596 + Silent SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 18 75164596 75164596 C A SNP ATP9B NM_198531 human genbank 54_36p 1 validated silent c.1416 p.T472 1 NULL - - no_errors ADNP2 22850 genome.wustl.edu 36 18 75997035 75997035 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 18 75997035 75997035 C T SNP ADNP2 NM_014913 human genbank 54_36p 1 validated silent c.2748 p.I916 1 NULL - - no_errors ZNF799 90576 genome.wustl.edu 36 19 12362677 12362677 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 19 12362677 12362677 G T SNP ZNF799 NM_001080821 human genbank 54_36p -1 validated missense c.1535 p.A512D NULL - - no_errors ZNF599 148103 genome.wustl.edu 36 19 39941846 39941846 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 19 39941846 39941846 T C SNP ZNF599 NM_001007248 human genbank 54_36p -1 validated missense c.1700 p.E567G 0.24 HMMPfam_zf-C2H2 HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers;HMMPfam_KRAB - no_errors CEACAM6 4680 genome.wustl.edu 36 19 46957130 46957130 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 19 46957130 46957130 G A SNP CEACAM6 NM_002483 human genbank 54_36p 1 validated silent c.558 p.P186 HMMPfam_ig HMMPfam_V-set;HMMPfam_ig;superfamily_Immunoglobulin - no_errors ZNF841 284371 genome.wustl.edu 36 19 57261726 57261726 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 19 57261726 57261726 G A SNP ZNF841 ENST00000389534 human ensembl 54_36p -1 known silent c.873 p.G291 0.99 NULL HMMPfam_zf-C2H2;superfamily_SSF57667 - no_errors EMR4P 326342 genome.wustl.edu 36 19 6932089 6932090 + Splice_Site INS - - C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 - - - C - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 19 6932089 6932090 - C INS EMR4P ENST00000359590 human ensembl 54_36p -1 known splice_site_ins c.NULL e6+1 0.776:0.771 - - - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 125376997 125376997 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 125376997 125376997 G A SNP CNTNAP5 NM_130773 human genbank 54_36p 1 reviewed missense c.3502 p.V1168I 1 HMMPfam_Laminin_G_2 HMMPfam_F5_F8_type_C;HMMPfam_EGF;superfamily_Galactose-binding domain-like;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_Fibrinogen C-terminal domain-like - no_errors ZNF806 646915 genome.wustl.edu 36 2 132792670 132792670 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 132792670 132792670 T C SNP ZNF806 XM_001724242 human genbank 54_36p 1 model missense c.1661 p.L554P 0.02 NULL - - no_errors LOC26010 26010 genome.wustl.edu 36 2 200992426 200992426 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 200992426 200992426 T A SNP LOC26010 NM_001100422 human genbank 54_36p 1 validated missense c.407 p.I136K NULL - - no_errors APOB 338 genome.wustl.edu 36 2 21086660 21086660 + Silent SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 21086660 21086660 T C SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.6585 p.K2195 0.01 NULL HMMPfam_Vitellogenin_N;HMMPfam_DUF1081;HMMPfam_DUF1943 - no_errors KCNE4 23704 genome.wustl.edu 36 2 223626183 223626183 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 223626183 223626183 T G SNP KCNE4 NM_080671 human genbank 54_36p 1 validated missense c.391 p.S131A 0.42 NULL - - no_errors C2orf85 285093 genome.wustl.edu 36 2 242463887 242463887 + Missense_Mutation SNP G G A Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 242463887 242463887 G A SNP C2orf85 NM_173821 human genbank 54_36p 1 validated missense c.1507 p.G503S 0.008 NULL - - no_errors NRXN1 9378 genome.wustl.edu 36 2 50317435 50317435 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 50317435 50317435 T A SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed missense c.3542 p.H1181L 1 HMMPfam_Laminin_G_2 HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_EGF/Laminin - no_errors ALMS1P 200420 genome.wustl.edu 36 2 73754566 73754566 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 73754566 73754566 C T SNP ALMS1P ENST00000295136 human ensembl 54_36p 1 known missense c.374 p.A125V 0.13 NULL - - no_start_codon C2orf3 6936 genome.wustl.edu 36 2 75781856 75781856 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 2 75781856 75781856 G A SNP C2orf3 NM_003203 human genbank 54_36p -1 validated nonsense c.685 p.Q229* 1 NULL - - no_errors MYO18B 84700 genome.wustl.edu 36 22 24753142 24753142 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 22 24753142 24753142 A G SNP MYO18B NM_032608 human genbank 54_36p 1 reviewed missense c.7202 p.K2401R 0.04 NULL HMMPfam_Myosin_head;superfamily_tRNA-binding arm;superfamily_P-loop containing nucleoside triphosphate hydrolases;HMMPfam_IQ - no_errors SNORD116-20 100033431 genome.wustl.edu 36 15 22883990 22883990 + RNA SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 15 22883990 22883990 G T SNP SNORD116-20 NR_003334 human genbank 54_36p 1 provisional rna NULL NULL 0.36 - - - no_errors KBTBD12 166348 genome.wustl.edu 36 3 129164900 129164900 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 129164900 129164900 C T SNP KLHDC6 NM_207335 human genbank 54_36p 1 validated silent c.1671 p.C557 1 NULL - - no_errors CPN2 1370 genome.wustl.edu 36 3 195543725 195543725 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 195543725 195543725 A T SNP CPN2 NM_001080513 human genbank 54_36p -1 validated missense c.1402 p.W468R 0.38 NULL - - no_errors NEK10 152110 genome.wustl.edu 36 3 27179022 27179022 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 27179022 27179022 C G SNP NEK10 ENST00000396636 human ensembl 54_36p -1 known missense c.1135 p.E379Q 0.98 NULL - - no_errors TGFBR2 7048 genome.wustl.edu 36 3 30704885 30704885 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 30704885 30704885 A C SNP TGFBR2 NM_001024847 human genbank 54_36p 1 reviewed missense c.1477 p.K493Q 1 HMMPfam_Pkinase Pkinase;HMMPfam_Pkinase;ecTbetaR2;HMMPfam_ecTbetaR2 - no_errors ITIH1 3697 genome.wustl.edu 36 3 52797337 52797337 + Silent SNP C C T Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 52797337 52797337 C T SNP ITIH1 NM_002215 human genbank 54_36p 1 validated silent c.2055 p.T685 0.023 NULL - - no_errors LOC401076 401076 genome.wustl.edu 36 3 76566806 76566806 + RNA SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 76566806 76566806 T C SNP LOC401076 XR_016406 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene HTR1F 3355 genome.wustl.edu 36 3 88122930 88122930 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 88122930 88122930 T C SNP HTR1F NM_000866 human genbank 54_36p 1 validated missense c.341 p.L114P 1 NULL - - no_errors SETD5 55209 genome.wustl.edu 36 3 9487592 9487592 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 9487592 9487592 G A SNP SETD5 NM_001080517 human genbank 54_36p 1 provisional silent c.3174 p.Q1058 1 NULL - - no_errors OR5K2 402135 genome.wustl.edu 36 3 99699652 99699652 + Silent SNP A A T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 3 99699652 99699652 A T SNP OR5K2 NM_001004737 human genbank 54_36p 1 provisional silent c.438 p.T146 NULL - - no_errors FAT1 2195 genome.wustl.edu 36 4 187794239 187794239 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 4 187794239 187794239 C T SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.4117 p.V1373I 1 NULL - - no_errors TLR6 10333 genome.wustl.edu 36 4 38506378 38506378 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 4 38506378 38506378 T C SNP TLR6 NM_006068 human genbank 54_36p -1 reviewed missense c.1112 p.E371G 0.92 NULL - - no_errors PCDHA7 56141 genome.wustl.edu 36 5 140195559 140195559 + Silent SNP G G A Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 5 140195559 140195559 G A SNP PCDHA7 NM_018910 human genbank 54_36p 1 reviewed silent c.1407 p.P469 0.575 NULL - - no_errors PCDHB9 56127 genome.wustl.edu 36 5 140548599 140548599 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 5 140548599 140548599 G C SNP PCDHB9 NM_019119 human genbank 54_36p 1 reviewed missense c.1523 p.R508P NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region RNF145 153830 genome.wustl.edu 36 5 158536337 158536337 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 5 158536337 158536337 T C SNP RNF145 NM_144726 human genbank 54_36p -1 provisional missense c.586 p.I196V 1 NULL - - no_errors ZNF354C 30832 genome.wustl.edu 36 5 178438430 178438430 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 5 178438430 178438430 G C SNP ZNF354C NM_014594 human genbank 54_36p 1 provisional missense c.391 p.E131Q 0.98 NULL - - no_errors ASCC3 10973 genome.wustl.edu 36 6 101272671 101272671 + Splice_Site SNP C C G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 6 101272671 101272671 C G SNP ASCC3 NM_006828 human genbank 54_36p -1 validated splice_site c.2079+1 e11+1 1 - - - no_errors TAAR6 319100 genome.wustl.edu 36 6 132933914 132933914 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 6 132933914 132933914 G T SNP TAAR6 NM_175067 human genbank 54_36p 1 provisional missense c.761 p.R254I 1 NULL - - no_errors FNDC1 84624 genome.wustl.edu 36 6 159573524 159573524 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 6 159573524 159573524 G A SNP FNDC1 NM_032532 human genbank 54_36p 1 validated missense c.1990 p.A664T 0 NULL - - no_errors PPIL1 51645 genome.wustl.edu 36 6 36950519 36950519 + Missense_Mutation SNP G G A Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 6 36950519 36950519 G A SNP PPIL1 NM_016059 human genbank 54_36p -1 reviewed missense c.8 p.A3V 0.945 NULL - - no_errors CHRM2 1129 genome.wustl.edu 36 7 136350307 136350307 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 7 136350307 136350307 G A SNP CHRM2 NM_000739 human genbank 54_36p 1 reviewed missense c.155 p.R52H 1 NULL - - no_errors BBS9 27241 genome.wustl.edu 36 7 33342684 33342684 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 7 33342684 33342684 G T SNP BBS9 NM_198428 human genbank 54_36p 1 reviewed nonsense c.1123 p.E375* 1 NULL - - no_errors LOC643955 643955 genome.wustl.edu 36 7 62389761 62389761 + RNA SNP G G C novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 7 62389761 62389761 G C SNP LOC643955 NR_003952 human genbank 54_36p -1 validated rna NULL NULL 0.8 - - - pseudogene GNAT3 346562 genome.wustl.edu 36 7 79926023 79926023 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 7 79926023 79926023 T A SNP GNAT3 NM_001102386 human genbank 54_36p -1 provisional missense c.965 p.H322L 1 NULL - - no_errors FLJ43860 389690 genome.wustl.edu 36 8 142556718 142556718 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 8 142556718 142556718 C T SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.1412 p.R471H 0.96 NULL HMMPfam_HEAT;superfamily_ARM repeat - pseudogene EEF1D 1936 genome.wustl.edu 36 8 144740128 144740128 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 8 144740128 144740128 T A SNP EEF1D NM_032378 human genbank 54_36p -1 reviewed missense c.1129 p.I377F 1 NULL - - no_errors CHMP5 51510 genome.wustl.edu 36 9 33257862 33257862 + Silent SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 9 33257862 33257862 G A SNP CHMP5 NM_016410 human genbank 54_36p 1 validated silent c.186 p.K62 0.99 NULL - - no_errors LAMP2 3920 genome.wustl.edu 36 X 119466852 119466852 + Splice_Site SNP C C A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a X 119466852 119466852 C A SNP LAMP2 NM_002294 human genbank 54_36p -1 reviewed splice_site c.556+1 e4+1 1 - - - no_errors ATXN3L 92552 genome.wustl.edu 36 X 13247537 13247537 + Silent SNP T T G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a X 13247537 13247537 T G SNP ATXN3L ENST00000380622 human ensembl 54_36p -1 known silent c.438 p.T146 1 HMMPfam_Josephin HMMPfam_UIM;HMMPfam_Josephin - no_errors MTMR1 8776 genome.wustl.edu 36 X 149651706 149651706 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a X 149651706 149651706 C T SNP MTMR1 NM_003828 human genbank 54_36p 1 reviewed missense c.902 p.T301M 1 HMMPfam_Myotub-related HMMPfam_GRAM;HMMPfam_Myotub-related;superfamily_PH domain-like;superfamily_(Phosphotyrosine protein) phosphatases II - no_errors DCAF8L1 139425 genome.wustl.edu 36 X 27908086 27908086 + Silent SNP C C T novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a X 27908086 27908086 C T SNP WDR42B NM_001017930 human genbank 54_36p -1 provisional silent c.1287 p.K429 1 NULL - - no_errors WDR13 64743 genome.wustl.edu 36 X 48342974 48342974 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a X 48342974 48342974 G A SNP WDR13 NM_017883 human genbank 54_36p 1 reviewed missense c.448 p.G150R 1 NULL HMMPfam_WD40;superfamily_WD40 repeat-like - no_errors EDA 1896 genome.wustl.edu 36 X 68753002 68753002 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a X 68753002 68753002 T G SNP EDA NM_001399 human genbank 54_36p 1 reviewed missense c.125 p.L42R 1 NULL HMMPfam_TNF;HMMPfam_Collagen;superfamily_TNF-like - no_errors SLC13A1 6561 genome.wustl.edu 36 7 122595801 122595803 + Frame_Shift_Del DEL CTG CTG AT Unknown TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 CTG CTG CTG AT CTG CTG Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 70f63e2f-9bc6-4ed9-8d91-f1889287d7b7 65955726-5cf6-4150-9ad1-e68ce5aa7d6a 7 122595801 122595803 CTG AT DEL SLC13A1 NM_022444 human genbank 54_36p -1 validated frame_shift_del c.602 p.P201fs 0.98:0.976 NULL - (deletion:cds_exon[122595794,122595851]) no_errors