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 C1orf59 113802 genome.wustl.edu 36 1 109001645 109001645 + Missense_Mutation SNP T T A rs11540221 Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 1 109001645 109001645 T A SNP C1orf59 NM_001102592 human genbank 54_36p -1 validated missense c.101 p.Q34L 1 NULL - - no_errors AKR7A2P1 246182 genome.wustl.edu 36 1 113268153 113268153 + RNA SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 1 113268153 113268153 G C SNP AFARP1 NR_002796 human genbank 54_36p 1 provisional rna NULL NULL 0.81 - - - pseudogene HIPK1 204851 genome.wustl.edu 36 1 114285144 114285144 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 1 114285144 114285144 A G SNP HIPK1 NM_198268 human genbank 54_36p 1 reviewed missense c.616 p.K206E 1 HMMPfam_Pkinase HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors LOC391075 391075 genome.wustl.edu 36 1 119806459 119806459 + RNA SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 1 119806459 119806459 A T SNP LOC391075 XR_016557 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene VHLL 391104 genome.wustl.edu 36 1 154535367 154535367 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 1 154535367 154535367 A C SNP VHLL NM_001004319 human genbank 54_36p -1 provisional missense c.238 p.Y80D 0.53 NULL - - no_errors NUF2 83540 genome.wustl.edu 36 1 161585425 161585425 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 1 161585425 161585425 A T SNP NUF2 NM_031423 human genbank 54_36p 1 reviewed missense c.1191 p.E397D 0.67 NULL HMMPfam_Nuf2 - no_errors SRGAP2 23380 genome.wustl.edu 36 1 204633631 204633631 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 1 204633631 204633631 A G SNP SRGAP2 ENST00000295713 human ensembl 54_36p 1 known missense c.551 p.H184R 1 NULL - - no_start_codon FAAH 2166 genome.wustl.edu 36 1 46644044 46644044 + Missense_Mutation SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 1 46644044 46644044 A G SNP FAAH NM_001441 human genbank 54_36p 1 reviewed missense c.776 p.N259S 0.813 NULL - - no_errors PTER 9317 genome.wustl.edu 36 10 16568623 16568623 + Splice_Site SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 10 16568623 16568623 G C SNP PTER NM_001001484 human genbank 54_36p 1 validated splice_site c.698+1 e2+1 1 - - - no_errors KIAA0913 23053 genome.wustl.edu 36 10 75227656 75227656 + Silent SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 10 75227656 75227656 G T SNP KIAA0913 NM_015037 human genbank 54_36p 1 validated silent c.3774 p.G1258 1 NULL - - no_errors DSCAML1 57453 genome.wustl.edu 36 11 117156448 117156448 + Missense_Mutation SNP T A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T A A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 11 117156448 117156448 T A SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.514 p.I172F 1 NULL superfamily_Immunoglobulin;HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;HMMPfam_ig - no_errors NR1H3 10062 genome.wustl.edu 36 11 47246815 47246815 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 11 47246815 47246815 C T SNP NR1H3 NM_005693 human genbank 54_36p 1 validated missense c.1336 p.H446Y 1 NULL HMMPfam_Hormone_recep;HMMPfam_zf-C4;superfamily_Nuclear receptor ligand-binding domain;superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors MS4A7 58475 genome.wustl.edu 36 11 59917859 59917859 + Silent SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 11 59917859 59917859 A T SNP MS4A7 NM_021201 human genbank 54_36p 1 reviewed silent c.672 p.S224 0.01 NULL HMMPfam_CD20 - no_errors DDB1 1642 genome.wustl.edu 36 11 60835831 60835832 + Splice_Site DNP CC CC AA novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 CC CC CC AA CC CC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 11 60835831 60835832 CC AA DNP DDB1 NM_001923 human genbank 54_36p -1 validated splice_site c.2277+2_+1 e18+0 1.000:1.000 - - - no_errors LGALS12 85329 genome.wustl.edu 36 11 63039744 63039744 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 11 63039744 63039744 C T SNP LGALS12 NM_033101 human genbank 54_36p 1 validated missense c.847 p.P283S 0.98 NULL - - no_errors TMEM126A 84233 genome.wustl.edu 36 11 85044369 85044369 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 11 85044369 85044369 G A SNP TMEM126A NM_032273 human genbank 54_36p 1 provisional missense c.364 p.A122T 1 NULL - - no_errors FOLH1B 219595 genome.wustl.edu 36 11 89069480 89069480 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 11 89069480 89069480 C A SNP PSMAL NM_153696 human genbank 54_36p 1 predicted missense c.1078 p.L360I 1 HMMPfam_TFR_dimer HMMPfam_TFR_dimer;HMMPfam_Peptidase_M28;superfamily_Transferrin receptor ectodomain C-terminal domain;superfamily_Zn-dependent exopeptidases - no_errors ESYT1 23344 genome.wustl.edu 36 12 54814394 54814394 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 12 54814394 54814394 C G SNP FAM62A NM_015292 human genbank 54_36p 1 provisional missense c.1547 p.A516G 0.84 NULL - - no_errors CEP290 80184 genome.wustl.edu 36 12 87029169 87029169 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 12 87029169 87029169 C A SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.2308 p.A770S 0.99 NULL superfamily_Spectrin repeat;superfamily_Translin - no_errors TMTC4 84899 genome.wustl.edu 36 13 100085302 100085302 + Missense_Mutation SNP G C C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 13 100085302 100085302 G C SNP TMTC4 NM_032813 human genbank 54_36p -1 validated missense c.1351 p.L451V 0.14 NULL - - no_errors LOC100128322 100128322 genome.wustl.edu 36 6 132191190 132191190 + RNA SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 6 132191190 132191190 G T SNP LOC100128322 XR_039280 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene C9orf171 389799 genome.wustl.edu 36 9 134437680 134437680 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 9 134437680 134437680 C A SNP C9orf171 NM_207417 human genbank 54_36p 1 predicted missense c.925 p.Q309K 1 NULL - - no_errors IL25 64806 genome.wustl.edu 36 14 22914673 22914673 + Splice_Site SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 14 22914673 22914673 G A SNP IL25 NM_022789 human genbank 54_36p 1 reviewed splice_site c.279-1 e2-1 1 - - - no_errors ATP8B4 79895 genome.wustl.edu 36 15 48052207 48052207 + Silent SNP T T A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 15 48052207 48052207 T A SNP ATP8B4 NM_024837 human genbank 54_36p -1 validated silent c.1107 p.A369 0.14 NULL HMMPfam_Hydrolase_3;superfamily_HAD-like;superfamily_Calcium ATPase transduction domain A;superfamily_Metal cation-transporting ATPase ATP-binding domain N;superfamily_Calcium ATPase transmembrane domain M - no_errors CILP 8483 genome.wustl.edu 36 15 63277186 63277186 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 15 63277186 63277186 C G SNP CILP NM_003613 human genbank 54_36p -1 reviewed missense c.2491 p.E831Q 1 NULL HMMPfam_TSP_1;superfamily_Carboxypeptidase regulatory domain;HMMPfam_ig;superfamily_Immunoglobulin;superfamily_TSP-1 type 1 repeat - no_errors LOC642677 642677 genome.wustl.edu 36 15 82513135 82513135 + RNA SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 15 82513135 82513135 C T SNP LOC642677 XR_036878 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene FLJ40504 284085 genome.wustl.edu 36 17 23628148 23628148 + Nonsense_Mutation SNP C A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 17 23628148 23628148 C A SNP FLJ40504 NM_173624 human genbank 54_36p -1 predicted nonsense c.454 p.E152* 1 NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1 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 CCDC40 55036 genome.wustl.edu 36 17 75646936 75646950 + In_Frame_Del DEL ACATGCAGAACATCG ACATGCAGAACATCG - novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 ACATGCAGAACATCG ACATGCAGAACATCG ACATGCAGAACATCG - ACATGCAGAACATCG ACATGCAGAACATCG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 17 75646936 75646950 ACATGCAGAACATCG - DEL CCDC40 NM_017950 human genbank 54_36p 1 validated in_frame_del c.1208_1222 p.MQNID404in_frame_del 1.000:0.997:0.984:0.996:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.995:0.985:0.870:0.980 NULL - (deletion:cds_exon[75646888;75647045]) no_errors JAK3 3718 genome.wustl.edu 36 19 17807849 17807849 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 19 17807849 17807849 G A SNP JAK3 NM_000215 human genbank 54_36p -1 reviewed nonsense c.1798 p.Q600* 1 HMMPfam_Pkinase_Tyr Pkinase_Tyr,HMMPfam_Pkinase_Tyr - no_errors PLIN4 729359 genome.wustl.edu 36 19 4462818 4462818 + Silent SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 19 4462818 4462818 A G SNP KIAA1881 NM_001080400 human genbank 54_36p -1 provisional silent c.2112 p.S704 0 NULL - - no_errors ZNF285B 147711 genome.wustl.edu 36 19 49669022 49669022 + RNA SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 19 49669022 49669022 A G SNP ZNF285B XR_016906 human genbank 54_36p 1 model rna NULL NULL 0.34 - - - pseudogene COL5A3 50509 genome.wustl.edu 36 19 9946074 9946074 + Missense_Mutation SNP C G G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C G G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 19 9946074 9946074 C G SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.3353 p.G1118A 0.99 HMMPfam_Collagen HMMPfam_COLFI;HMMPfam_Collagen;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_Fibrinogen C-terminal domain-like - no_errors TPO 7173 genome.wustl.edu 36 2 1486840 1486840 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 2 1486840 1486840 G A SNP TPO NM_000547 human genbank 54_36p 1 reviewed missense c.2500 p.D834N 0.99 HMMPfam_EGF_CA HMMPfam_Sushi;HMMPfam_An_peroxidase;superfamily_Heme-dependent peroxidases;HMMPfam_EGF_CA;superfamily_EGF/Laminin;superfamily_Complement control module/SCR domain - no_errors TTC21B 79809 genome.wustl.edu 36 2 166478345 166478345 + Nonsense_Mutation SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 2 166478345 166478345 G T SNP TTC21B NM_024753 human genbank 54_36p -1 validated nonsense c.2196 p.Y732* 1 NULL - - no_errors METTL8 79828 genome.wustl.edu 36 2 171904158 171904160 + In_Frame_Del DEL ATG ATG - novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 ATG ATG ATG - ATG ATG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 2 171904158 171904160 ATG - DEL METTL8 NM_024770 human genbank 54_36p -1 validated in_frame_del c.238_236 p.S79in_frame_del 0.001:0.001:0.016 NULL - (deletion:cds_exon[171903940;171904310]) no_errors TTN 7273 genome.wustl.edu 36 2 179351902 179351902 + Silent SNP A A G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 2 179351902 179351902 A G SNP TTN NM_133378 human genbank 54_36p -1 reviewed silent c.4152 p.A1384 0.98 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNAH7 56171 genome.wustl.edu 36 2 196457735 196457735 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 2 196457735 196457735 C A SNP DNAH7 NM_018897 human genbank 54_36p -1 validated missense c.5582 p.C1861F 1 NULL - - no_errors SFTPB 6439 genome.wustl.edu 36 2 85746307 85746307 + Missense_Mutation SNP A A C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 2 85746307 85746307 A C SNP SFTPB NM_000542 human genbank 54_36p -1 validated missense c.515 p.L172R 0.18 NULL HMMPfam_SapA;HMMPfam_SapB_1;HMMPfam_SapB_2;superfamily_Saposin - no_errors DEPDC5 9681 genome.wustl.edu 36 22 30532135 30532159 + Frame_Shift_Del DEL TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA - novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA - TTGTAATAGTTTCACCCCACGAATA TTGTAATAGTTTCACCCCACGAATA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 22 30532135 30532159 TTGTAATAGTTTCACCCCACGAATA - DEL DEPDC5 NM_014662 human genbank 54_36p 1 validated frame_shift_del c.1245_1269 p.F415fs 0.945:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.904:1.000:1.000:1.000:1.000:1.000:0.987:1.000:1.000:1.000 NULL "HMMPfam_DEP;superfamily_""Winged helix"" DNA-binding domain" (deletion:cds_exon[30532108;30532177]) no_errors CARD10 29775 genome.wustl.edu 36 22 36223101 36223101 + Silent SNP G A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 22 36223101 36223101 G A SNP CARD10 NM_014550 human genbank 54_36p -1 reviewed silent c.1818 p.S606 0.742 NULL HMMPfam_CARD,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors EFCAB6 64800 genome.wustl.edu 36 22 42353774 42353774 + Missense_Mutation SNP C T T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 22 42353774 42353774 C T SNP EFCAB6 NM_022785 human genbank 54_36p -1 validated missense c.2351 p.R784H 0.73 NULL superfamily_EF-hand;HMMPfam_efhand;HMMPfam_DUF1880 - no_errors POLQ 10721 genome.wustl.edu 36 3 122669059 122669059 + Missense_Mutation SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 3 122669059 122669059 G C SNP POLQ NM_199420 human genbank 54_36p -1 validated missense c.6964 p.P2322A 1 HMMPfam_DNA_pol_A HMMPfam_DNA_pol_A;HMMPfam_Helicase_C;HMMPfam_DEAD;superfamily_Ribonuclease H-like;superfamily_Immunoglobulin;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_DNA/RNA polymerases - no_errors FGD5 152273 genome.wustl.edu 36 3 14935265 14935265 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 3 14935265 14935265 G A SNP FGD5 NM_152536 human genbank 54_36p 1 validated missense c.2767 p.V923I 1 NULL - - no_errors VEPH1 79674 genome.wustl.edu 36 3 158614419 158614419 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 3 158614419 158614419 G A SNP VEPH1 NM_024621 human genbank 54_36p -1 provisional missense c.851 p.P284L 1 NULL HMMPfam_PH;superfamily_ARM repeat;superfamily_PH domain-like - no_errors SETD2 29072 genome.wustl.edu 36 3 47114495 47114495 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 3 47114495 47114495 G A SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed missense c.3587 p.A1196V 1 NULL HMMPfam_WW;superfamily_WW domain;HMMPfam_SET;superfamily_Ferritin-like;HMMPfam_SRI_2;superfamily_SET domain - no_errors ETF1 2107 genome.wustl.edu 36 5 137881173 137881173 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 5 137881173 137881173 C G SNP ETF1 NM_004730 human genbank 54_36p -1 validated missense c.378 p.L126F 1 NULL - - no_errors RBM24 221662 genome.wustl.edu 36 6 17392921 17392921 + Missense_Mutation SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 6 17392921 17392921 G A SNP RBM24 NM_153020 human genbank 54_36p 1 validated missense c.212 p.G71E 1 NULL - - no_errors KIAA0319 9856 genome.wustl.edu 36 6 24684575 24684575 + Missense_Mutation SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 6 24684575 24684575 C G SNP KIAA0319 NM_014809 human genbank 54_36p -1 validated missense c.1734 p.Q578H 1 NULL superfamily_PKD domain - no_errors SRF 6722 genome.wustl.edu 36 6 43252280 43252280 + Missense_Mutation SNP G G T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 6 43252280 43252280 G T SNP SRF NM_003131 human genbank 54_36p 1 reviewed missense c.1059 p.Q353H 1 NULL HMMPfam_SRF-TF;superfamily_SRF-like - no_errors COL19A1 1310 genome.wustl.edu 36 6 70938599 70938599 + Missense_Mutation SNP T T G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 6 70938599 70938599 T G SNP COL19A1 NM_001858 human genbank 54_36p 1 reviewed missense c.2591 p.L864W 0.98 HMMPfam_Collagen HMMPfam_Collagen;superfamily_Concanavalin A-like lectins/glucanases - no_errors KIAA1009 22832 genome.wustl.edu 36 6 84961443 84961443 + Nonsense_Mutation SNP G G C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 6 84961443 84961443 G C SNP KIAA1009 NM_014895 human genbank 54_36p -1 validated nonsense c.905 p.S302* 1 NULL - - no_errors RINT1 60561 genome.wustl.edu 36 7 104970272 104970272 + Missense_Mutation SNP T C C novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 7 104970272 104970272 T C SNP RINT1 NM_021930 human genbank 54_36p 1 validated missense c.455 p.I152T 0.95 NULL RINT1_TIP1;HMMPfam_RINT1_TIP1 - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131481867 131481867 + Missense_Mutation SNP C C T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 7 131481867 131481867 C T SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.4997 p.G1666E 1 NULL - - no_errors MLL3 58508 genome.wustl.edu 36 7 151482376 151482376 + Silent SNP G G A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 7 151482376 151482376 G A SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed silent c.12048 p.S4016 1 NULL AT_hook;HMMPfam_AT_hook;HMG_box;HMMPfam_HMG_box;SET;HMMPfam_SET;PHD;HMMPfam_PHD;FYRN;HMMPfam_FYRN;FYRC;HMMPfam_FYRC - no_errors ARPC1A 10552 genome.wustl.edu 36 7 98779896 98779896 + Missense_Mutation SNP G A A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 7 98779896 98779896 G A SNP ARPC1A NM_006409 human genbank 54_36p 1 reviewed missense c.214 p.A72T 1 HMMPfam_WD40 HMMPfam_WD40;superfamily_WD40 repeat-like - no_errors ENSG00000215028 0 genome.wustl.edu 36 8 79836611 79836611 + Splice_Site SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 8 79836611 79836611 C G SNP ENSG00000215028 ENST00000399463 human ensembl 54_36p -1 novel splice_site c.NULL NULL 1 - - - no_coding_region:pseudogene TMEM71 137835 genome.wustl.edu 36 8 133809389 133809389 + Silent SNP C C G novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 8 133809389 133809389 C G SNP TMEM71 NM_144649 human genbank 54_36p -1 validated silent c.456 p.L152 0.01 NULL - - no_errors PTCH1 5727 genome.wustl.edu 36 9 97260321 97260321 + Missense_Mutation SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d 9 97260321 97260321 A T SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.2963 p.V988E 1 HMMPfam_Patched superfamily_Multidrug efflux transporter AcrB transmembrane domain;Patched;HMMPfam_Patched - no_errors LOC286456 286456 genome.wustl.edu 36 X 150146369 150146369 + RNA SNP A A T novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d X 150146369 150146369 A T SNP LOC286456 XR_016302 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ZNF275 10838 genome.wustl.edu 36 X 152265671 152265671 + Missense_Mutation SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d X 152265671 152265671 C A SNP ZNF275 NM_001080485 human genbank 54_36p 1 validated missense c.502 p.L168I 0.06 NULL - - no_errors FAM123B 139285 genome.wustl.edu 36 X 63329595 63329595 + Silent SNP C C A novel Unknown TCGA-13-1404-01A-01W-0494-09 TCGA-13-1404-10A-01W-0495-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 692e4b24-daf0-4771-b4a6-b0599f122ad8 7387defb-bc6c-4662-81bb-1fb2abb1207d X 63329595 63329595 C A SNP FAM123B NM_152424 human genbank 54_36p -1 validated silent c.297 p.L99 0.74 NULL - - no_errors