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 COL11A1 1301 genome.wustl.edu 36 1 103119897 103119897 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 103119897 103119897 A T SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.5020 p.S1674T 1 HMMPfam_COLFI HMMPfam_COLFI;HMMPfam_Collagen;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_Fibrinogen C-terminal domain-like - no_errors ZNF697 90874 genome.wustl.edu 36 1 119970088 119970088 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 119970088 119970088 C T SNP ZNF697 NM_001080470 human genbank 54_36p -1 provisional silent c.159 p.P53 NULL - - no_errors CGN 57530 genome.wustl.edu 36 1 149774954 149774954 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 149774954 149774954 G A SNP CGN NM_020770 human genbank 54_36p 1 validated silent c.3153 p.E1051 0.97 NULL - - no_errors LCE3E 353145 genome.wustl.edu 36 1 150805082 150805082 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 150805082 150805082 C T SNP LCE3E NM_178435 human genbank 54_36p -1 validated missense c.227 p.G76D 0.43 NULL - - no_errors CELA2B 51032 genome.wustl.edu 36 1 15680218 15680218 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 15680218 15680218 C G SNP ELA2B NM_015849 human genbank 54_36p 1 reviewed missense c.168 p.H56Q 1 NULL - - no_errors FCRL6 343413 genome.wustl.edu 36 1 158051862 158051862 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 158051862 158051862 G C SNP FCRL6 NM_001004310 human genbank 54_36p 1 validated missense c.1168 p.V390L NULL - - no_errors F5 2153 genome.wustl.edu 36 1 167751388 167751388 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 167751388 167751388 T C SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.6446 p.Y2149C 1 NULL - - no_errors FAM5B 57795 genome.wustl.edu 36 1 175517201 175517201 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 175517201 175517201 G A SNP FAM5B NM_021165 human genbank 54_36p 1 provisional missense c.2266 p.V756M 1 NULL HMMPfam_MACPF - no_errors KCNH1 3756 genome.wustl.edu 36 1 209258748 209258748 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 209258748 209258748 C A SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.1032 p.Q344H 1 NULL - - no_errors USH2A 7399 genome.wustl.edu 36 1 214210718 214210718 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 214210718 214210718 A G SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.6829 p.Y2277H 1 NULL - - no_errors TMEM63A 9725 genome.wustl.edu 36 1 224101408 224101408 + Nonsense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 224101408 224101408 G A SNP TMEM63A NM_014698 human genbank 54_36p -1 provisional nonsense c.2380 p.Q794* 0.02 NULL - - no_errors WNT9A 7483 genome.wustl.edu 36 1 226178521 226178521 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 226178521 226178521 G A SNP WNT9A NM_003395 human genbank 54_36p -1 validated missense c.556 p.R186W 1 HMMPfam_wnt HMMPfam_wnt - no_errors SEPN1 57190 genome.wustl.edu 36 1 26007750 26007750 + Silent SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 26007750 26007750 T A SNP SEPN1 ENST00000354177 human ensembl 54_36p 1 known silent c.528 p.L176 0.69 NULL - - no_errors ARID1A 8289 genome.wustl.edu 36 1 26974783 26974783 + Nonsense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 26974783 26974783 C T SNP ARID1A NM_006015 human genbank 54_36p 1 reviewed nonsense c.5122 p.Q1708* 1 NULL - - no_errors PCSK9 255738 genome.wustl.edu 36 1 55296327 55296327 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 55296327 55296327 C A SNP PCSK9 NM_174936 human genbank 54_36p 1 reviewed missense c.1211 p.P404Q 0.51 NULL - - no_errors NOC2L 26155 genome.wustl.edu 36 1 871755 871755 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 871755 871755 T G SNP NOC2L NM_015658 human genbank 54_36p -1 validated missense c.1693 p.N565H 1 NULL - - no_errors CCDC18 343099 genome.wustl.edu 36 1 93450248 93450248 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 1 93450248 93450248 T G SNP CCDC18 NM_206886 human genbank 54_36p 1 validated missense c.1691 p.I564S 1 NULL - - no_errors CCDC147 159686 genome.wustl.edu 36 10 106108143 106108143 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 106108143 106108143 G C SNP CCDC147 NM_001008723 human genbank 54_36p 1 validated missense c.64 p.D22H 1 NULL - - no_errors TCF7L2 6934 genome.wustl.edu 36 10 114839151 114839151 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 114839151 114839151 C G SNP TCF7L2 ENST00000352065 human ensembl 54_36p 1 known missense c.489 p.S163R 1 HMMPfam_CTNNB1_binding HMMPfam_HMG_box;superfamily_HMG-box;HMMPfam_CTNNB1_binding - no_errors BAG3 9531 genome.wustl.edu 36 10 121422103 121422103 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 121422103 121422103 C T SNP BAG3 NM_004281 human genbank 54_36p 1 reviewed missense c.854 p.T285M 0.75 NULL HMMPfam_WW;superfamily_WW domain;HMMPfam_BAG;superfamily_BAG domain - no_errors PTER 9317 genome.wustl.edu 36 10 16566430 16566430 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 16566430 16566430 T C SNP PTER NM_001001484 human genbank 54_36p 1 validated missense c.41 p.L14P 0.01 NULL - - no_errors ARHGAP21 57584 genome.wustl.edu 36 10 24948443 24948443 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 24948443 24948443 G T SNP ARHGAP21 NM_020824 human genbank 54_36p -1 validated missense c.2384 p.P795Q 0.89 NULL HMMPfam_RhoGAP;HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_PH;superfamily_GTPase activation domain GAP;superfamily_PH domain-like - no_errors PTCHD3 374308 genome.wustl.edu 36 10 27727657 27727657 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 27727657 27727657 C G SNP PTCHD3 NM_001034842 human genbank 54_36p -1 validated missense c.1876 p.G626R 0.99 NULL - - no_errors ZNF488 118738 genome.wustl.edu 36 10 47991112 47991112 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 47991112 47991112 C A SNP ZNF488 NM_153034 human genbank 54_36p 1 provisional missense c.574 p.L192M 0.92 NULL - - no_errors CYP2C19 1557 genome.wustl.edu 36 10 96602522 96602522 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 96602522 96602522 T A SNP CYP2C19 NM_000769 human genbank 54_36p 1 reviewed missense c.1334 p.L445Q 1 HMMPfam_p450 HMMPfam_p450;superfamily_Cytochrome P450 - no_errors ZNF202 7753 genome.wustl.edu 36 11 123102703 123102703 + Missense_Mutation SNP T C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 123102703 123102703 T C SNP ZNF202 NM_003455 human genbank 54_36p -1 validated missense c.1159 p.T387A 0.16 NULL HMMPfam_KRAB;HMMPfam_SCAN;HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers - no_errors VSIG2 23584 genome.wustl.edu 36 11 124123564 124123564 + Silent SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 124123564 124123564 G A SNP VSIG2 NM_014312 human genbank 54_36p -1 provisional silent c.783 p.F261 0.98 NULL - - no_errors ST14 6768 genome.wustl.edu 36 11 129575215 129575215 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 129575215 129575215 A C SNP ST14 NM_021978 human genbank 54_36p 1 reviewed missense c.1967 p.H656P 1 HMMPfam_Trypsin HMMPfam_SEA;HMMPfam_CUB;superfamily_Spermadhesin CUB domain;HMMPfam_Trypsin;HMMPfam_Ldl_recept_a;superfamily_Trypsin-like serine proteases;superfamily_LDL receptor-like module;superfamily_SEA domain - no_errors PAMR1 25891 genome.wustl.edu 36 11 35410599 35410599 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 35410599 35410599 G A SNP DKFZP586H2123 NM_015430 human genbank 54_36p -1 validated missense c.2095 p.R699C 0.08 HMMPfam_Trypsin HMMPfam_Sushi;HMMPfam_CUB;superfamily_Spermadhesin CUB domain;HMMPfam_Trypsin;HMMPfam_EGF;superfamily_Trypsin-like serine proteases;superfamily_EGF/Laminin;superfamily_Complement control module/SCR domain - no_errors TTC17 55761 genome.wustl.edu 36 11 43422283 43422283 + Nonsense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 43422283 43422283 C G SNP TTC17 NM_018259 human genbank 54_36p 1 provisional nonsense c.2613 p.Y871* 0.95 NULL - - no_errors PSMC3 5702 genome.wustl.edu 36 11 47402214 47402214 + Nonsense_Mutation SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 47402214 47402214 G A SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed nonsense c.550 p.Q184* 1 NULL - - no_errors LOC340970 340970 genome.wustl.edu 36 11 48963952 48963952 + RNA SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 48963952 48963952 A G SNP LOC340970 XR_042351 human genbank 54_36p -1 model rna NULL NULL - - - pseudogene OR5D18 219438 genome.wustl.edu 36 11 55343867 55343867 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 55343867 55343867 T G SNP OR5D18 NM_001001952 human genbank 54_36p 1 provisional missense c.186 p.F62L 0.96 NULL - - no_errors LOC643680 643680 genome.wustl.edu 36 11 59753973 59753973 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 59753973 59753973 G A SNP LOC643680 XM_931901 human genbank 54_36p -1 model missense c.59 p.P20L 0.47 NULL - - no_errors STIP1 10963 genome.wustl.edu 36 11 63718248 63718248 + Silent SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 63718248 63718248 A G SNP STIP1 NM_006819 human genbank 54_36p 1 validated silent c.231 p.R77 0.77 NULL - - no_errors RELA 5970 genome.wustl.edu 36 11 65184219 65184219 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 65184219 65184219 C G SNP RELA NM_021975 human genbank 54_36p -1 validated missense c.379 p.E127Q 1 HMMPfam_RHD TIG;HMMPfam_TIG;RHD;HMMPfam_RHD - no_errors RBM4 5936 genome.wustl.edu 36 11 66168159 66168159 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 66168159 66168159 G A SNP RBM4 NM_002896 human genbank 54_36p 1 validated missense c.1075 p.A359T 1 NULL - - no_errors KDM2A 22992 genome.wustl.edu 36 11 66778962 66778962 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 66778962 66778962 C T SNP FBXL11 NM_012308 human genbank 54_36p 1 reviewed missense c.3349 p.R1117C 1 NULL HMMPfam_LRR_1;HMMPfam_F-box;HMMPfam_zf-CXXC;superfamily_FYVE/PHD zinc finger;HMMPfam_JmjC;superfamily_Clavaminate synthase-like;superfamily_RNI-like - no_errors SUV420H1 51111 genome.wustl.edu 36 11 67682106 67682106 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 67682106 67682106 C A SNP SUV420H1 NM_017635 human genbank 54_36p -1 reviewed missense c.2283 p.K761N 1 NULL HMMPfam_SET;superfamily_SET domain - no_errors CREBZF 58487 genome.wustl.edu 36 11 85052903 85052903 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 85052903 85052903 C A SNP CREBZF NM_001039618 human genbank 54_36p -1 validated missense c.665 p.R222L 1 NULL - - no_errors GPR83 10888 genome.wustl.edu 36 11 93753026 93753026 + Silent SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 11 93753026 93753026 G T SNP GPR83 NM_016540 human genbank 54_36p -1 validated silent c.1209 p.T403 0.93 NULL HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors SSH1 54434 genome.wustl.edu 36 12 107717052 107717052 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 107717052 107717052 G A SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.1202 p.A401V 0.98 NULL - - no_errors NOS1 4842 genome.wustl.edu 36 12 116178198 116178198 + Silent SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 116178198 116178198 G T SNP NOS1 ENST00000338101 human ensembl 54_36p -1 known silent c.2559 p.P853 1 NULL - - no_errors CCDC64 92558 genome.wustl.edu 36 12 119003073 119003073 + Splice_Site SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 119003073 119003073 G C SNP CCDC64 NM_207311 human genbank 54_36p 1 validated splice_site c.1309-1 e7-1 1 - - - no_errors CCDC62 84660 genome.wustl.edu 36 12 121856670 121856670 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 121856670 121856670 G A SNP CCDC62 NM_201435 human genbank 54_36p 1 validated missense c.1726 p.D576N NULL - - no_errors DNAH10 196385 genome.wustl.edu 36 12 122855451 122855451 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 122855451 122855451 C A SNP DNAH10 NM_207437 human genbank 54_36p 1 validated missense c.1998 p.H666Q 0.98 NULL - - no_errors DNAH10 196385 genome.wustl.edu 36 12 122863771 122863771 + Silent SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 122863771 122863771 T A SNP DNAH10 NM_207437 human genbank 54_36p 1 validated silent c.2352 p.P784 0.99 NULL - - no_errors ERC1 23085 genome.wustl.edu 36 12 1424012 1424012 + Silent SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 1424012 1424012 T G SNP ERC1 NM_178040 human genbank 54_36p 1 reviewed silent c.3048 p.L1016 1 NULL superfamily_Prefoldin;superfamily_lambda repressor-like DNA-binding domains - no_errors MGP 4256 genome.wustl.edu 36 12 14926380 14926380 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 14926380 14926380 G A SNP MGP NM_000900 human genbank 54_36p -1 validated missense c.272 p.A91V 1 HMMPfam_Gla HMMPfam_Gla;superfamily_GLA-domain - no_errors CACNA1C 775 genome.wustl.edu 36 12 2094813 2094813 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 2094813 2094813 C A SNP CACNA1C NM_000719 human genbank 54_36p 1 reviewed missense c.212 p.A71E 0.96 NULL HMMPfam_Ion_trans;HMMPfam_Ca_chan_IQ;superfamily_EF-hand;superfamily_Voltage-gated potassium channels - no_errors LRRK2 120892 genome.wustl.edu 36 12 39031692 39031692 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 39031692 39031692 G T SNP LRRK2 NM_198578 human genbank 54_36p 1 reviewed missense c.6466 p.V2156F 1 NULL HMMPfam_Pkinase;superfamily_Ankyrin repeat;superfamily_Protein kinase-like (PK-like);superfamily_WD40 repeat-like;superfamily_ARM repeat;superfamily_L domain-like;superfamily_P-loop containing nucleoside triphosphate hydrolases;Pkinase;LRR_1;HMMPfam_LRR_1;LRR_2;HMMPfam_LRR_2;Miro;HMMPfam_Miro - no_errors LIMA1 51474 genome.wustl.edu 36 12 48928777 48928777 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 48928777 48928777 G A SNP LIMA1 NM_016357 human genbank 54_36p -1 validated missense c.25 p.R9W 1 NULL - - no_errors KRT74 121391 genome.wustl.edu 36 12 51248285 51248285 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 51248285 51248285 G A SNP KRT74 NM_175053 human genbank 54_36p -1 validated silent c.1290 p.S430 0.84 HMMPfam_Filament HMMPfam_Filament;superfamily_Ferritin-like - no_errors STAT2 6773 genome.wustl.edu 36 12 55031427 55031427 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 55031427 55031427 A G SNP STAT2 NM_005419 human genbank 54_36p -1 reviewed missense c.857 p.V286A 0.04 HMMPfam_STAT_alpha superfamily_p53-like transcription factors;superfamily_Transcription factor STAT-4 N-domain;superfamily_STAT;superfamily_SH2 domain;HMMPfam_STAT_bind;SH2;HMMPfam_SH2;STAT_int;HMMPfam_STAT_int;STAT_alpha;HMMPfam_STAT_alpha;STAT_bind - no_errors LRP1 4035 genome.wustl.edu 36 12 55857547 55857547 + Missense_Mutation SNP C C T Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 55857547 55857547 C T SNP LRP1 NM_002332 human genbank 54_36p 1 validated missense c.4267 p.R1423C 0.615 HMMPfam_Ldl_recept_b HMMPfam_Ldl_recept_b,HMMPfam_Ldl_recept_a,HMMPfam_EGF,HMMPfam_EGF_CA,superfamily_EGF/Laminin,superfamily_LDL receptor-like module,superfamily_YWTD domain - no_errors RAB3IP 117177 genome.wustl.edu 36 12 68419907 68419907 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 68419907 68419907 A C SNP RAB3IP NM_175623 human genbank 54_36p 1 validated missense c.14 p.K5T 0 NULL - - no_errors CLEC4D 338339 genome.wustl.edu 36 12 8564164 8564165 + Missense_Mutation DNP TG TG GT novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 TG TG TG GT TG TG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 8564164 8564165 TG GT DNP CLEC4D NM_080387 human genbank 54_36p 1 reviewed missense c.460_461 p.W154V 0.853:0.839 HMMPfam_Lectin_C HMMPfam_Lectin_C;superfamily_C-type lectin-like - no_errors WNK1 65125 genome.wustl.edu 36 12 859235 859235 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 12 859235 859235 C T SNP WNK1 NM_018979 human genbank 54_36p 1 validated missense c.2609 p.T870I 0.99 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors KIAA0564 23078 genome.wustl.edu 36 13 41147411 41147411 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 13 41147411 41147411 G C SNP KIAA0564 NM_015058 human genbank 54_36p -1 validated missense c.4349 p.S1450C 1 NULL - - no_errors PCDH17 27253 genome.wustl.edu 36 13 57106788 57106788 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 13 57106788 57106788 G A SNP PCDH17 NM_001040429 human genbank 54_36p 1 reviewed missense c.2107 p.D703N 1 NULL - - no_errors SLITRK6 84189 genome.wustl.edu 36 13 85268362 85268362 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 13 85268362 85268362 G T SNP SLITRK6 NM_032229 human genbank 54_36p -1 validated missense c.283 p.L95I 1 HMMPfam_LRR_1 superfamily_L domain-like;HMMPfam_LRRCT;HMMPfam_LRR_1 - no_errors GPR132 29933 genome.wustl.edu 36 14 104589084 104589084 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 14 104589084 104589084 C T SNP GPR132 NM_013345 human genbank 54_36p -1 reviewed silent c.435 p.V145 0.57 NULL - - no_errors CHD8 57680 genome.wustl.edu 36 14 20943240 20943240 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 14 20943240 20943240 C T SNP CHD8 NM_020920 human genbank 54_36p -1 validated missense c.2438 p.R813H 1 HMMPfam_SNF2_N HMMPfam_SNF2_N;HMMPfam_Chromo;HMMPfam_Helicase_C;HMMPfam_TCH;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Chromo domain-like - no_errors SIPA1L1 26037 genome.wustl.edu 36 14 71155239 71155239 + Missense_Mutation SNP A G G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 14 71155239 71155239 A G SNP SIPA1L1 NM_015556 human genbank 54_36p 1 provisional missense c.1511 p.Y504C 1 NULL HMMPfam_Rap_GAP;HMMPfam_PDZ;superfamily_PDZ domain-like;superfamily_Rap/Ran-GAP (Pfam 02145) - no_errors C14orf43 91748 genome.wustl.edu 36 14 73275140 73275140 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 14 73275140 73275140 C G SNP C14orf43 NM_001043318 human genbank 54_36p -1 validated missense c.1325 p.C442S 0.94 NULL - - no_errors TTLL5 23093 genome.wustl.edu 36 14 75319416 75319416 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 14 75319416 75319416 C T SNP TTLL5 NM_015072 human genbank 54_36p 1 validated missense c.2776 p.P926S 0.36 NULL HMMPfam_TTL;superfamily_Glutathione synthetase ATP-binding domain-like - no_errors C14orf102 55051 genome.wustl.edu 36 14 89854202 89854202 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 14 89854202 89854202 A C SNP C14orf102 NM_017970 human genbank 54_36p -1 validated missense c.73 p.W25G 1 NULL HMMPfam_DUF1740;superfamily_Polynucleotide phosphorylase/guanosine pentaphosphate synthase (PNPase/GPSI) domain 3;superfamily_Protein prenylyltransferase;superfamily_TPR-like - no_errors SERPINA10 51156 genome.wustl.edu 36 14 93820080 93820080 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 14 93820080 93820080 C A SNP SERPINA10 NM_001100607 human genbank 54_36p -1 validated missense c.1310 p.R437M 1 NULL - - no_errors RYR3 6263 genome.wustl.edu 36 15 31837038 31837038 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 15 31837038 31837038 C A SNP RYR3 NM_001036 human genbank 54_36p 1 validated missense c.8654 p.P2885H 1 NULL HMMPfam_RYDR_ITPR;HMMPfam_efhand;HMMPfam_RyR;HMMPfam_MIR;HMMPfam_SPRY;HMMPfam_Ion_trans;HMMPfam_RR_TM4-6;HMMPfam_RIH_assoc;HMMPfam_Ins145_P3_rec;superfamily_EF-hand;superfamily_ARM repeat;superfamily_MIR domain (Pfam 02815) - no_errors PLCB2 5330 genome.wustl.edu 36 15 38382800 38382800 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 15 38382800 38382800 T G SNP PLCB2 NM_004573 human genbank 54_36p -1 validated missense c.212 p.K71T 1 NULL - - no_errors FAM81A 145773 genome.wustl.edu 36 15 57539488 57539488 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 15 57539488 57539488 C G SNP FAM81A NM_152450 human genbank 54_36p 1 validated missense c.85 p.L29V 0.98 NULL - - no_errors HERC1 8925 genome.wustl.edu 36 15 61727326 61727326 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 15 61727326 61727326 G A SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed missense c.10873 p.H3625Y 1 HMMPfam_WD40 HMMPfam_RCC1;HMMPfam_HECT;HMMPfam_WD40;HMMPfam_SPRY;superfamily_RCC1/BLIP-II;superfamily_WD40 repeat-like;superfamily_Hect E3 ligase catalytic domain - no_errors ENSG00000208756 0 genome.wustl.edu 36 3 151278263 151278263 + RNA SNP C T T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 151278263 151278263 C T SNP ENSG00000208756 ENST00000386021 human ensembl 54_36p -1 known rna NULL NULL - - - pseudogene ENSG00000215003 0 genome.wustl.edu 36 16 15933071 15933071 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 15933071 15933071 A G SNP ENSG00000215003 ENST00000399416 human ensembl 54_36p -1 known missense c.554 p.L185P 1 NULL - - no_errors MLST8 64223 genome.wustl.edu 36 16 2198833 2198833 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 2198833 2198833 A G SNP GBL NM_022372 human genbank 54_36p 1 validated missense c.935 p.Q312R 1 NULL WD40;HMMPfam_WD40 - no_errors ZNF785 146540 genome.wustl.edu 36 16 30501764 30501764 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 30501764 30501764 G A SNP ZNF785 NM_152458 human genbank 54_36p -1 provisional missense c.836 p.T279M 0.83 NULL - - no_errors CLUAP1 23059 genome.wustl.edu 36 16 3513216 3513216 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 3513216 3513216 C T SNP CLUAP1 NM_015041 human genbank 54_36p 1 provisional silent c.771 p.D257 0.13 NULL - - no_errors RHBDF1 64285 genome.wustl.edu 36 16 49279 49279 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 49279 49279 G A SNP RHBDF1 NM_022450 human genbank 54_36p -1 validated silent c.1962 p.Y654 1 NULL - - no_errors CNOT1 23019 genome.wustl.edu 36 16 57148389 57148389 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 57148389 57148389 A G SNP CNOT1 NM_016284 human genbank 54_36p -1 validated missense c.2342 p.L781P 1 NULL HMMPfam_Not1;superfamily_ARM repeat - no_errors CMTM2 146225 genome.wustl.edu 36 16 65178426 65178426 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 65178426 65178426 G C SNP CMTM2 NM_144673 human genbank 54_36p 1 reviewed missense c.470 p.C157S NULL - - no_errors LOC729313 729313 genome.wustl.edu 36 16 80067560 80067560 + RNA SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 80067560 80067560 G A SNP LOC729313 XR_015971 human genbank 54_36p -1 model rna NULL NULL 0.99 - - - pseudogene LRRC50 123872 genome.wustl.edu 36 16 82761021 82761021 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 82761021 82761021 G A SNP LRRC50 NM_178452 human genbank 54_36p 1 validated silent c.1086 p.K362 0.01 NULL HMMPfam_LRR_1;superfamily_Outer arm dynein light chain 1 - no_errors SPG7 6687 genome.wustl.edu 36 16 88130791 88130791 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 16 88130791 88130791 C T SNP SPG7 NM_199367 human genbank 54_36p 1 reviewed missense c.1442 p.S481L NULL - - no_errors NLK 51701 genome.wustl.edu 36 17 23512371 23512371 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 17 23512371 23512371 C A SNP NLK NM_016231 human genbank 54_36p 1 validated missense c.703 p.P235T 1 NULL - - no_errors ZZEF1 23140 genome.wustl.edu 36 17 3867594 3867594 + Silent SNP G C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 17 3867594 3867594 G C SNP ZZEF1 NM_015113 human genbank 54_36p -1 validated silent c.7821 p.L2607 1 NULL HMMPfam_ZZ;superfamily_Spermadhesin CUB domain;HMMPfam_efhand;HMMPfam_APC10;superfamily_Galactose-binding domain-like;superfamily_EF-hand;superfamily_Cysteine-rich domain - no_errors PSMB6 5694 genome.wustl.edu 36 17 4647940 4647940 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 17 4647940 4647940 A G SNP PSMB6 NM_002798 human genbank 54_36p 1 reviewed missense c.308 p.E103G 1 HMMPfam_Proteasome HMMPfam_Proteasome;superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) - no_errors TP53 7157 genome.wustl.edu 36 17 7517869 7517869 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 17 7517869 7517869 A G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.794 p.L265P 0.99 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 HEXDC 284004 genome.wustl.edu 36 17 77984922 77984922 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 17 77984922 77984922 G C SNP HEXDC NM_173620 human genbank 54_36p 1 validated missense c.382 p.A128P 0.71 NULL - - no_errors TMED1 11018 genome.wustl.edu 36 19 10806964 10806964 + Silent SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 10806964 10806964 G T SNP TMED1 NM_006858 human genbank 54_36p -1 reviewed silent c.249 p.V83 1 HMMPfam_EMP24_GP25L HMMPfam_EMP24_GP25L;superfamily_Supernatant protein factor (SPF) C-terminal domain - no_errors HOOK2 29911 genome.wustl.edu 36 19 12742827 12742827 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 12742827 12742827 G A SNP HOOK2 NM_013312 human genbank 54_36p -1 validated missense c.821 p.A274V HMMPfam_HOOK HMMPfam_HOOK;superfamily_UBA-like - no_errors CACNA1A 773 genome.wustl.edu 36 19 13258396 13258396 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 13258396 13258396 C G SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known missense c.3477 p.K1159N 1 NULL HMMPfam_Ion_trans;HMMPfam_Ca_chan_IQ;superfamily_Voltage-gated potassium channels - no_errors UPF1 5976 genome.wustl.edu 36 19 18824027 18824027 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 18824027 18824027 C T SNP UPF1 NM_002911 human genbank 54_36p 1 reviewed silent c.894 p.D298 1 NULL HMMPfam_ResIII;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors THOP1 7064 genome.wustl.edu 36 19 2750744 2750744 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 2750744 2750744 C A SNP THOP1 NM_003249 human genbank 54_36p 1 provisional missense c.544 p.L182M 1 NULL "HMMPfam_Peptidase_M3;superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors ZNF536 9745 genome.wustl.edu 36 19 35626475 35626475 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 35626475 35626475 C G SNP ZNF536 NM_014717 human genbank 54_36p 1 provisional missense c.166 p.P56A 1 NULL - - no_errors FFAR3 2865 genome.wustl.edu 36 19 40541728 40541728 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 40541728 40541728 C T SNP FFAR3 NM_005304 human genbank 54_36p 1 validated silent c.96 p.N32 1 NULL - - no_errors ZNF568 374900 genome.wustl.edu 36 19 42132392 42132392 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 42132392 42132392 C A SNP ZNF568 NM_198539 human genbank 54_36p 1 validated nonsense c.497 p.S166* NULL - - no_errors EIF3K 27335 genome.wustl.edu 36 19 43801800 43801800 + Missense_Mutation SNP A A G Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 43801800 43801800 A G SNP EIF3K NM_013234 human genbank 54_36p 1 validated missense c.52 p.I18V 1 NULL - - no_errors PAK4 10298 genome.wustl.edu 36 19 44360981 44360981 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 44360981 44360981 G A SNP PAK4 NM_001014831 human genbank 54_36p 1 reviewed silent c.1698 p.L566 1 HMMPfam_Pkinase HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like);PBD;HMMPfam_PBD;Pkinase - no_errors CGB5 93659 genome.wustl.edu 36 19 54240166 54240166 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 54240166 54240166 T C SNP CGB5 NM_033043 human genbank 54_36p 1 reviewed missense c.301 p.S101P 1 NULL - - no_errors KIR3DL3 115653 genome.wustl.edu 36 19 59931137 59931137 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 59931137 59931137 T A SNP KIR3DL3 NM_153443 human genbank 54_36p 1 reviewed missense c.604 p.L202I 0 NULL HMMPfam_ig,superfamily_Immunoglobulin - no_errors NAT14 57106 genome.wustl.edu 36 19 60689988 60689988 + Missense_Mutation SNP G T T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 60689988 60689988 G T SNP NAT14 NM_020378 human genbank 54_36p 1 provisional missense c.474 p.M158I 0.02 NULL - - no_errors ZNF470 388566 genome.wustl.edu 36 19 61780271 61780271 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 61780271 61780271 A G SNP ZNF470 NM_001001668 human genbank 54_36p 1 validated missense c.662 p.D221G NULL HMMPfam_KRAB;HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers - no_errors FBN3 84467 genome.wustl.edu 36 19 8107405 8107405 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 19 8107405 8107405 G A SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed silent c.1212 p.T404 0.12 NULL HMMPfam_TB;HMMPfam_EGF;superfamily_Growth factor receptor domain;HMMPfam_EGF_CA;superfamily_EGF/Laminin;superfamily_TB module/8-cys domain - no_errors ENSG00000161149 0 genome.wustl.edu 36 22 19693539 19693539 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 22 19693539 19693539 C T SNP ENSG00000161149 ENST00000292748 human ensembl 54_36p -1 known silent c.321 p.T107 1 NULL HMMPfam_Tubulin;superfamily_RNI-like;superfamily_Tubulin nucleotide-binding domain-like - no_errors NR4A2 4929 genome.wustl.edu 36 2 156891607 156891607 + Silent SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 156891607 156891607 C A SNP NR4A2 NM_006186 human genbank 54_36p -1 reviewed silent c.1230 p.L410 1 NULL HMMPfam_Hormone_recep;HMMPfam_zf-C4;superfamily_Nuclear receptor ligand-binding domain;superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors TTN 7273 genome.wustl.edu 36 2 179193272 179193272 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 179193272 179193272 G A SNP TTN NM_133378 human genbank 54_36p -1 reviewed silent c.38517 p.D12839 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTN 7273 genome.wustl.edu 36 2 179206827 179206827 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 179206827 179206827 A T SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.34940 p.V11647D 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTN 7273 genome.wustl.edu 36 2 179321800 179321800 + Silent SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 179321800 179321800 A G SNP TTN NM_133379 human genbank 54_36p -1 reviewed silent c.13572 p.D4524 0 NULL HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_Immunoglobulin,superfamily_beta-sandwich domain of Sec23/24 - no_errors SPEG 10290 genome.wustl.edu 36 2 220024122 220024154 + In_Frame_Del DEL GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 220024122 220024154 GTGTCCGCTGGAGAAGAGCCCCTAGAGGCCCCT - DEL SPEG NM_005876 human genbank 54_36p 1 validated in_frame_del c.2134_2166 p.SAGEEPLEAPV713in_frame_del 1.000:1.000:1.000:1.000:0.997:0.463:0.956:0.951:0.626:0.998:0.999:0.997:1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:0.885:0.893:0.939:0.950:1.000:1.000:1.000:1.000:1.000:0.961:0.995:0.991:0.073 NULL - (deletion:cds_exon[220024102;220024245]) no_errors SP110 3431 genome.wustl.edu 36 2 230785783 230785783 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 230785783 230785783 G C SNP SP110 NM_080424 human genbank 54_36p -1 reviewed missense c.520 p.P174A 0.01 NULL HMMPfam_SAND;HMMPfam_Bromodomain;HMMPfam_PHD;HMMPfam_Sp100;superfamily_SAND domain-like;superfamily_FYVE/PHD zinc finger;superfamily_Bromodomain - no_errors SNX17 9784 genome.wustl.edu 36 2 27451898 27451898 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 27451898 27451898 C T SNP SNX17 NM_014748 human genbank 54_36p 1 reviewed silent c.796 p.L266 0.9 NULL HMMPfam_PX;superfamily_PX domain - no_errors FAM98A 25940 genome.wustl.edu 36 2 33670758 33670758 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 33670758 33670758 A T SNP FAM98A NM_015475 human genbank 54_36p -1 validated missense c.230 p.L77H 1 NULL - - no_errors CLEC4F 165530 genome.wustl.edu 36 2 70897742 70897742 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 70897742 70897742 G T SNP CLEC4F NM_173535 human genbank 54_36p -1 validated missense c.279 p.H93Q NULL - - no_errors DQX1 165545 genome.wustl.edu 36 2 74604673 74604673 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 74604673 74604673 G A SNP DQX1 NM_133637 human genbank 54_36p -1 validated missense c.347 p.P116L NULL - - no_errors RMND5A 64795 genome.wustl.edu 36 2 86845685 86845685 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 86845685 86845685 G C SNP RMND5A NM_022780 human genbank 54_36p 1 validated missense c.546 p.M182I 1 NULL - - no_errors RPIA 22934 genome.wustl.edu 36 2 88809936 88809936 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 2 88809936 88809936 G A SNP RPIA NM_144563 human genbank 54_36p 1 validated missense c.428 p.G143D 1 HMMPfam_Rib_5-P_isom_A HMMPfam_Rib_5-P_isom_A;superfamily_NagB/RpiA/CoA transferase-like;superfamily_D-ribose-5-phosphate isomerase (RpiA) lid domain - no_errors KIF3B 9371 genome.wustl.edu 36 20 30368004 30368004 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 20 30368004 30368004 G C SNP KIF3B NM_004798 human genbank 54_36p 1 reviewed missense c.1520 p.R507T 1 NULL Kinesin;HMMPfam_Kinesin;P-loop containing nucleoside triphosphate hydrolases;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors BPI 671 genome.wustl.edu 36 20 36385777 36385777 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 20 36385777 36385777 T C SNP BPI NM_001725 human genbank 54_36p 1 reviewed missense c.860 p.L287P 0.82 NULL - - no_errors CDH26 60437 genome.wustl.edu 36 20 58004364 58004364 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 20 58004364 58004364 G A SNP CDH26 NM_177980 human genbank 54_36p 1 reviewed missense c.1748 p.G583E 0.95 NULL - - no_errors IGLV10-54 28772 genome.wustl.edu 36 22 20899407 20899407 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 22 20899407 20899407 G T SNP IGLV10-54 ENST00000390287 human ensembl 54_36p 1 known missense c.99 p.L33F 0.01 NULL - - no_stop_codon:bad_bp_length_for_coding_region SLC5A3 6526 genome.wustl.edu 36 21 34389965 34389965 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 21 34389965 34389965 A G SNP SLC5A3 NM_006933 human genbank 54_36p 1 validated missense c.598 p.M200V 1 HMMPfam_SSF HMMPfam_SSF - no_errors CHAF1B 8208 genome.wustl.edu 36 21 36680416 36680416 + Missense_Mutation SNP G G T Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 21 36680416 36680416 G T SNP CHAF1B NM_005441 human genbank 54_36p 1 reviewed missense c.112 p.D38Y 1 HMMPfam_WD40 HMMPfam_WD40,superfamily_WD40 repeat-like - no_errors C2CD2 25966 genome.wustl.edu 36 21 42200854 42200854 + Missense_Mutation SNP C C G Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 21 42200854 42200854 C G SNP C2CD2 NM_015500 human genbank 54_36p -1 validated missense c.1127 p.G376A 0.997 NULL - - no_errors TMPRSS3 64699 genome.wustl.edu 36 21 42669753 42669753 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 21 42669753 42669753 G T SNP TMPRSS3 NM_024022 human genbank 54_36p -1 reviewed missense c.1160 p.A387E 1 HMMPfam_Trypsin HMMPfam_SRCR;superfamily_SRCR-like;HMMPfam_Trypsin;superfamily_Trypsin-like serine proteases;superfamily_LDL receptor-like module - no_errors PTTG1IP 754 genome.wustl.edu 36 21 45100669 45100669 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 21 45100669 45100669 C G SNP PTTG1IP NM_004339 human genbank 54_36p -1 reviewed missense c.316 p.G106R 0.87 NULL - - no_errors TEF 7008 genome.wustl.edu 36 22 40113439 40113444 + In_Frame_Del DEL TGGACC TGGACC - novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 TGGACC TGGACC TGGACC - TGGACC TGGACC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 22 40113439 40113444 TGGACC - DEL TEF NM_003216 human genbank 54_36p 1 reviewed in_frame_del c.296_301 p.LD101in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 NULL - (deletion:cds_exon[40113301;40113618]) no_errors GOLGB1 2804 genome.wustl.edu 36 3 122898250 122898250 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 122898250 122898250 T A SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.3795 p.E1265D NULL - - no_errors FAM162A 26355 genome.wustl.edu 36 3 123605880 123605880 + Silent SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 123605880 123605880 T C SNP FAM162A NM_014367 human genbank 54_36p 1 validated silent c.243 p.D81 0.93 NULL - - no_errors SEMA5B 54437 genome.wustl.edu 36 3 124162677 124162677 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 124162677 124162677 C A SNP SEMA5B NM_001031702 human genbank 54_36p -1 validated missense c.124 p.G42C 0.1 NULL HMMPfam_TSP_1;HMMPfam_Sema;superfamily_Sema domain;HMMPfam_PSI;superfamily_Plexin repeat;superfamily_TSP-1 type 1 repeat - no_errors PIK3R4 30849 genome.wustl.edu 36 3 131887939 131887939 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 131887939 131887939 T G SNP PIK3R4 NM_014602 human genbank 54_36p -1 validated missense c.3281 p.E1094A 1 NULL HMMPfam_HEAT;HMMPfam_Pkinase;HMMPfam_WD40;superfamily_Protein kinase-like (PK-like);superfamily_WD40 repeat-like;superfamily_ARM repeat - no_errors TMEM108 66000 genome.wustl.edu 36 3 134582534 134582534 + Missense_Mutation SNP T T A Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 134582534 134582534 T A SNP TMEM108 NM_023943 human genbank 54_36p 1 validated missense c.1289 p.L430H 1 NULL - - no_errors ATR 545 genome.wustl.edu 36 3 143686726 143686726 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 143686726 143686726 T A SNP ATR NM_001184 human genbank 54_36p -1 reviewed missense c.6167 p.N2056I 1 HMMPfam_FAT HMMPfam_HEAT;HMMPfam_PI3_PI4_kinase;HMMPfam_FAT;HMMPfam_FATC;superfamily_Protein kinase-like (PK-like);HMMPfam_UME;superfamily_ARM repeat;superfamily_TPR-like - no_errors EOMES 8320 genome.wustl.edu 36 3 27733789 27733789 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 27733789 27733789 C A SNP EOMES NM_005442 human genbank 54_36p -1 reviewed nonsense c.1837 p.E613* 1 NULL - - no_errors ZNF860 344787 genome.wustl.edu 36 3 32005808 32005808 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 32005808 32005808 C T SNP ZNF860 ENST00000360311 human ensembl 54_36p 1 known missense c.185 p.A62V 0.02 NULL - - no_stop_codon DCLK3 85443 genome.wustl.edu 36 3 36731996 36731996 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 36731996 36731996 G A SNP DCLK3 NM_033403 human genbank 54_36p -1 validated missense c.1774 p.R592W 0.34 NULL - - no_errors KIAA0922 23240 genome.wustl.edu 36 4 154722035 154722035 + Silent SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 154722035 154722035 T G SNP KIAA0922 NM_015196 human genbank 54_36p 1 validated silent c.321 p.V107 0.01 NULL - - no_errors ING2 3622 genome.wustl.edu 36 4 184669015 184669015 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 184669015 184669015 G T SNP ING2 NM_001564 human genbank 54_36p 1 validated missense c.759 p.W253C 1 HMMPfam_PHD HMMPfam_PHD;superfamily_FYVE/PHD zinc finger - no_errors TLR3 7098 genome.wustl.edu 36 4 187240618 187240618 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 187240618 187240618 A G SNP TLR3 NM_003265 human genbank 54_36p 1 reviewed missense c.784 p.T262A HMMPfam_LRR_1 HMMPfam_TIR;superfamily_Toll/Interleukin receptor TIR domain;HMMPfam_LRRCT;HMMPfam_LRR_1;superfamily_L domain-like - no_errors KCNIP4 80333 genome.wustl.edu 36 4 20493348 20493348 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 20493348 20493348 C T SNP KCNIP4 NM_025221 human genbank 54_36p -1 reviewed silent c.144 p.T48 0.88 NULL - - overly_large_intron CNGA1 1259 genome.wustl.edu 36 4 47634201 47634212 + Frame_Shift_Del DEL GACCAGTAAAGG GACCAGTAAAGG TA novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GACCAGTAAAGG GACCAGTAAAGG GACCAGTAAAGG TA GACCAGTAAAGG GACCAGTAAAGG Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 47634201 47634212 GACCAGTAAAGG TA DEL CNGA1 NM_000087 human genbank 54_36p -1 reviewed frame_shift_del FIP1L1 81608 genome.wustl.edu 36 4 53951540 53951540 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 53951540 53951540 T A SNP FIP1L1 NM_030917 human genbank 54_36p 1 reviewed missense c.493 p.W165R 1 HMMPfam_Fip1 HMMPfam_Fip1 - no_errors TBC1D14 57533 genome.wustl.edu 36 4 7046811 7046811 + Splice_Site SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 7046811 7046811 G C SNP TBC1D14 NM_020773 human genbank 54_36p 1 validated splice_site c.799-1 e3-1 1 - - - no_errors ALB 213 genome.wustl.edu 36 4 74493974 74493974 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 74493974 74493974 A T SNP ALB NM_000477 human genbank 54_36p 1 reviewed missense c.521 p.Y174F 1 NULL - - no_errors CPZ 8532 genome.wustl.edu 36 4 8659894 8659894 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 8659894 8659894 G T SNP CPZ NM_001014447 human genbank 54_36p 1 reviewed missense c.1069 p.V357L 1 NULL - - no_errors PTPN13 5783 genome.wustl.edu 36 4 87899222 87899222 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 87899222 87899222 C G SNP PTPN13 NM_080685 human genbank 54_36p 1 reviewed missense c.3525 p.I1175M 1 HMMPfam_PDZ HMMPfam_Y_phosphatase;HMMPfam_Band_41;HMMPfam_PDZ;superfamily_PDZ domain-like;superfamily_PAZ domain;superfamily_Second domain of FERM;superfamily_PH domain-like;superfamily_(Phosphotyrosine protein) phosphatases II;superfamily_Ubiquitin-like - no_errors FAM35B 414241 genome.wustl.edu 36 10 46347869 46347869 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 46347869 46347869 A C SNP FAM35B ENST00000301038 human ensembl 54_36p 1 known missense c.382 p.S128R 0.67 NULL - - no_errors IL3 3562 genome.wustl.edu 36 5 131426144 131426144 + Silent SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 5 131426144 131426144 C A SNP IL3 NM_000588 human genbank 54_36p 1 reviewed silent c.321 p.A107 HMMPfam_IL3 HMMPfam_IL3;superfamily_4-helical cytokines - no_errors PDLIM4 8572 genome.wustl.edu 36 5 131635725 131635725 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 5 131635725 131635725 G A SNP PDLIM4 NM_003687 human genbank 54_36p 1 validated silent c.897 p.R299 0.99 HMMPfam_LIM HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_LIM;superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors TERT 7015 genome.wustl.edu 36 5 1333401 1333401 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 5 1333401 1333401 G T SNP TERT NM_198253 human genbank 54_36p -1 reviewed missense c.1822 p.Q608K NULL - - no_errors SPOCK1 6695 genome.wustl.edu 36 5 136356177 136356177 + Missense_Mutation SNP T T G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 5 136356177 136356177 T G SNP SPOCK1 NM_004598 human genbank 54_36p -1 reviewed missense c.601 p.K201Q 1 NULL HMMPfam_Thyroglobulin_1;HMMPfam_Kazal_2;superfamily_Kazal-type serine protease inhibitors;superfamily_EF-hand;superfamily_EGF/Laminin;superfamily_Thyroglobulin type-1 domain - no_errors PSD2 84249 genome.wustl.edu 36 5 139196765 139196765 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 5 139196765 139196765 A G SNP PSD2 NM_032289 human genbank 54_36p 1 provisional missense c.1589 p.K530R 1 HMMPfam_PH superfamily_Sec7 domain;HMMPfam_PH;superfamily_PH domain-like;HMMPfam_Sec7 - no_errors SPINK5 11005 genome.wustl.edu 36 5 147491087 147491087 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 5 147491087 147491087 G C SNP SPINK5 NM_006846 human genbank 54_36p 1 reviewed missense c.3037 p.V1013L 1 HMMPfam_Kazal_1 HMMPfam_Kazal_1;HMMPfam_Kazal_2;superfamily_Kazal-type serine protease inhibitors - no_errors LAMA4 3910 genome.wustl.edu 36 6 112682024 112682040 + Frame_Shift_Del DEL GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA - Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA - GCCAGGCTGAGCTCAAA GCCAGGCTGAGCTCAAA Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 112682024 112682040 GCCAGGCTGAGCTCAAA - DEL LAMA4 NM_001105206 human genbank 54_36p -1 reviewed frame_shift_del c.22_6 p.S4fs 0.491:0.957:0.996:1.000:1.000:1.000:0.999:0.998:1.000:1.000:1.000:0.999:0.999:1.000:0.999:1.000:1.000 NULL - (deletion:cds_exon[112681851,112682045]) no_errors C6orf70 55780 genome.wustl.edu 36 6 169921305 169921306 + Missense_Mutation DNP GC AG AG novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GC GC AG AG GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 169921305 169921306 GC AG DNP C6orf70 NM_018341 human genbank 54_36p 1 validated missense c.1842_1843 p.Q615E 1.000:1.000 NULL - - no_errors VPS52 6293 genome.wustl.edu 36 6 33339806 33339806 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 33339806 33339806 G C SNP VPS52 NM_022553 human genbank 54_36p -1 reviewed missense c.1577 p.T526R 1 NULL - - no_errors SPDEF 25803 genome.wustl.edu 36 6 34620202 34620202 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 34620202 34620202 G A SNP SPDEF NM_012391 human genbank 54_36p -1 provisional silent c.9 p.S3 1 NULL "HMMPfam_Ets;HMMPfam_SAM_PNT;superfamily_SAM/Pointed domain;superfamily_""Winged helix"" DNA-binding domain" - no_errors UHRF1BP1 54887 genome.wustl.edu 36 6 34939818 34939818 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 34939818 34939818 C A SNP UHRF1BP1 NM_017754 human genbank 54_36p 1 validated missense c.3277 p.L1093I 1 NULL - - no_errors RHAG 6005 genome.wustl.edu 36 6 49690520 49690521 + Missense_Mutation DNP GA GA TT novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 49690520 49690521 GA TT DNP RHAG NM_000324 human genbank 54_36p -1 reviewed missense c.646_645 p.L216I 0.988:0.693 NULL - - no_errors DST 667 genome.wustl.edu 36 6 56525723 56525723 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 56525723 56525723 T C SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.8935 p.K2979E 1 NULL - - no_errors DST 667 genome.wustl.edu 36 6 56574323 56574323 + Silent SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 56574323 56574323 T C SNP DST ENST00000370769 human ensembl 54_36p -1 known silent c.10791 p.K3597 0.98 NULL HMMPfam_CH;Spectrin;HMMPfam_Spectrin;efhand;HMMPfam_efhand;GAS2;HMMPfam_GAS2;Spectrin repeat;superfamily_Spectrin repeat;EF-hand;superfamily_EF-hand;Calponin-homology domain CH-domain;superfamily_Calponin-homology domain CH-domain;Adenylyl and guanylyl cyclase catalytic domain;superfamily_Adenylyl and guanylyl cyclase catalytic domain;Plakin repeat;superfamily_Plakin repeat;Plectin;HMMPfam_Plectin;SH3_1;HMMPfam_SH3_1;CH - no_errors DST 667 genome.wustl.edu 36 6 56605739 56605739 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 56605739 56605739 C T SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.3044 p.R1015H 1 NULL - - no_errors BAI3 577 genome.wustl.edu 36 6 69741948 69741948 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 69741948 69741948 C G SNP BAI3 NM_001704 human genbank 54_36p 1 reviewed missense c.1729 p.H577D 1 NULL GPS;HMMPfam_GPS;7tm_2;HMMPfam_7tm_2;Spermadhesin CUB domain;superfamily_Spermadhesin CUB domain;TSP_1;HMMPfam_TSP_1;HRM;HMMPfam_HRM;TSP-1 type 1 repeat;superfamily_TSP-1 type 1 repeat - no_errors COL9A1 1297 genome.wustl.edu 36 6 70999156 70999180 + Frame_Shift_Del DEL TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA - novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA - TCTGGACGCTTAAGACTGGCAGCCA TCTGGACGCTTAAGACTGGCAGCCA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 70999156 70999180 TCTGGACGCTTAAGACTGGCAGCCA - DEL COL9A1 NM_001851 human genbank 54_36p -1 reviewed frame_shift_del c.2354_2330 p.M777fs 1.000:1.000:0.960:1.000:1.000:0.998:1.000:0.999:0.997:0.990:0.905:0.860:0.999:1.000:0.999:1.000:1.000:0.994:1.000:1.000:0.987:1.000:1.000:1.000:1.000 NULL - (deletion:cds_exon[70999007;70999195]) no_errors RREB1 6239 genome.wustl.edu 36 6 7175676 7175676 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 7175676 7175676 G T SNP RREB1 NM_001003699 human genbank 54_36p 1 validated missense c.2345 p.G782V 0.545 NULL HMMPfam_zf-C2H2,superfamily_C2H2 and C2HC zinc fingers - no_errors DSP 1832 genome.wustl.edu 36 6 7504456 7504456 + Splice_Site SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 6 7504456 7504456 A G SNP DSP NM_004415 human genbank 54_36p 1 reviewed splice_site c.423-2 e4-2 0.95 - - - no_errors LOC100129267 100129267 genome.wustl.edu 36 10 65600387 65600387 + RNA SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 10 65600387 65600387 T C SNP LOC100129267 XR_037245 human genbank 54_36p -1 model rna NULL NULL 0.99 - - - pseudogene C7orf52 375607 genome.wustl.edu 36 7 100604696 100604696 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 100604696 100604696 G T SNP C7orf52 NM_198571 human genbank 54_36p -1 predicted missense c.113 p.A38D 0.01 NULL - - no_errors ZNF277 11179 genome.wustl.edu 36 7 111723525 111723525 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 111723525 111723525 C A SNP ZNF277 NM_021994 human genbank 54_36p 1 validated missense c.388 p.Q130K 1 NULL - - no_errors SCIN 85477 genome.wustl.edu 36 7 12631265 12631265 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 12631265 12631265 G A SNP SCIN NM_033128 human genbank 54_36p 1 validated missense c.124 p.A42T 0.02 HMMPfam_Gelsolin HMMPfam_Gelsolin;superfamily_Actin depolymerizing proteins;superfamily_C-terminal gelsolin-like domain of Sec23/24 - no_errors LOC647081 647081 genome.wustl.edu 36 7 134780340 134780340 + RNA SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 134780340 134780340 T C SNP LOC647081 XR_017490 human genbank 54_36p 1 model rna NULL NULL 0.16 - - - pseudogene ZNF425 155054 genome.wustl.edu 36 7 148432349 148432349 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 148432349 148432349 T C SNP ZNF425 NM_001001661 human genbank 54_36p -1 provisional missense c.1547 p.H516R 0.88 HMMPfam_zf-C2H2 HMMPfam_KRAB;HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers - no_errors CAMK2B 816 genome.wustl.edu 36 7 44247903 44247903 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 44247903 44247903 C T SNP CAMK2B NM_001220 human genbank 54_36p -1 reviewed missense c.824 p.R275H 1 NULL HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like);HMMPfam_CaMKII_AD;superfamily_NTF2-like - no_errors LOC442319 442319 genome.wustl.edu 36 7 63176462 63176462 + RNA SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 63176462 63176462 A T SNP LOC442319 XR_016680 human genbank 54_36p 1 model rna NULL NULL 1 - - - no_errors LOC644387 644387 genome.wustl.edu 36 7 63834059 63834059 + RNA SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 63834059 63834059 C T SNP LOC644387 XR_016224 human genbank 54_36p -1 model rna NULL NULL 0.13 - - - pseudogene DYNC1I1 1780 genome.wustl.edu 36 7 95280563 95280563 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 95280563 95280563 G A SNP DYNC1I1 NM_004411 human genbank 54_36p 1 validated missense c.343 p.G115S 0.99 NULL HMMPfam_WD40;superfamily_WD40 repeat-like - no_errors ZNF498 221785 genome.wustl.edu 36 7 99056982 99056982 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 7 99056982 99056982 C T SNP ZNF498 NM_145115 human genbank 54_36p 1 validated silent c.438 p.G146 0.01 NULL - - no_errors LOC100131940 100131940 genome.wustl.edu 36 4 77485101 77485101 + RNA SNP G G C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 4 77485101 77485101 G C SNP LOC100131940 XR_037574 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene CSMD3 114788 genome.wustl.edu 36 8 113395848 113395848 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 8 113395848 113395848 A T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.7535 p.L2512H 1 HMMPfam_CUB HMMPfam_Sushi;HMMPfam_CUB;superfamily_Spermadhesin CUB domain;superfamily_Complement control module/SCR domain - no_errors EXT1 2131 genome.wustl.edu 36 8 118894310 118894310 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 8 118894310 118894310 C T SNP EXT1 NM_000127 human genbank 54_36p -1 reviewed silent c.1704 p.T568 0.38 HMMPfam_EXTL2 HMMPfam_Exostosin;HMMPfam_EXTL2;superfamily_Nucleotide-diphospho-sugar transferases - no_errors ZHX1 11244 genome.wustl.edu 36 8 124336392 124336392 + Nonsense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 8 124336392 124336392 C A SNP ZHX1 NM_001017926 human genbank 54_36p -1 reviewed nonsense c.976 p.E326* 1 NULL - - no_errors FAM135B 51059 genome.wustl.edu 36 8 139249384 139249384 + Silent SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 8 139249384 139249384 G A SNP FAM135B NM_015912 human genbank 54_36p -1 validated silent c.1194 p.I398 0.99 NULL - - no_errors SULF1 23213 genome.wustl.edu 36 8 70713610 70713610 + Silent SNP T T C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 8 70713610 70713610 T C SNP SULF1 NM_015170 human genbank 54_36p 1 validated silent c.2514 p.Y838 0.98 NULL HMMPfam_Sulfatase;superfamily_Alkaline phosphatase-like - no_errors TLR4 7099 genome.wustl.edu 36 9 119510687 119510687 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 9 119510687 119510687 G T SNP TLR4 NM_138554 human genbank 54_36p 1 reviewed missense c.119 p.C40F 1 NULL HMMPfam_TIR;superfamily_Toll/Interleukin receptor TIR domain;HMMPfam_LRRCT;HMMPfam_LRR_1;superfamily_L domain-like - no_errors TLR4 7099 genome.wustl.edu 36 9 119516667 119516667 + Missense_Mutation SNP G G A Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 9 119516667 119516667 G A SNP TLR4 NM_138554 human genbank 54_36p 1 reviewed missense c.2440 p.A814T 1 HMMPfam_TIR HMMPfam_TIR,superfamily_Toll/Interleukin receptor TIR domain,HMMPfam_LRRCT,HMMPfam_LRR_1,superfamily_L domain-like - no_errors RPL35 11224 genome.wustl.edu 36 9 126660108 126660108 + Silent SNP C C T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 9 126660108 126660108 C T SNP RPL35 NM_007209 human genbank 54_36p -1 reviewed silent c.282 p.R94 1 NULL - - no_errors UNC13B 10497 genome.wustl.edu 36 9 35393794 35393794 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 9 35393794 35393794 G A SNP UNC13B NM_006377 human genbank 54_36p 1 reviewed missense c.4540 p.V1514M 1 NULL - - no_errors ZBTB5 9925 genome.wustl.edu 36 9 37432187 37432187 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 9 37432187 37432187 G T SNP ZBTB5 NM_014872 human genbank 54_36p -1 validated missense c.362 p.T121K 1 NULL - - no_errors KIAA2026 158358 genome.wustl.edu 36 9 5959314 5959314 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 9 5959314 5959314 G C SNP KIAA2026 NM_001017969 human genbank 54_36p -1 validated missense c.917 p.A306G 1 NULL - - no_errors C9orf129 445577 genome.wustl.edu 36 9 95120651 95120651 + Silent SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 9 95120651 95120651 T A SNP C9orf129 NM_001098808 human genbank 54_36p -1 predicted silent c.441 p.A147 NULL - - no_errors ENSG00000189002 0 genome.wustl.edu 36 3 90337887 90337887 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 3 90337887 90337887 C A SNP ENSG00000189002 ENST00000340162 human ensembl 54_36p -1 known missense c.7 p.A3S 0.02 NULL - - no_errors GPR119 139760 genome.wustl.edu 36 X 129346190 129346190 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 129346190 129346190 G A SNP GPR119 NM_178471 human genbank 54_36p -1 provisional missense c.913 p.L305F NULL - - no_errors SLITRK2 84631 genome.wustl.edu 36 X 144712039 144712039 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 144712039 144712039 G A SNP SLITRK2 NM_032539 human genbank 54_36p 1 validated missense c.404 p.S135N 1 NULL - - no_errors SLC10A3 8273 genome.wustl.edu 36 X 153369636 153369636 + Missense_Mutation SNP C C T Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 153369636 153369636 C T SNP SLC10A3 NM_019848 human genbank 54_36p -1 reviewed missense c.838 p.D280N 1 HMMPfam_SBF HMMPfam_SBF - no_errors DDX3X 1654 genome.wustl.edu 36 X 41091083 41091083 + Missense_Mutation SNP G C C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 41091083 41091083 G C SNP DDX3X NM_001356 human genbank 54_36p 1 reviewed missense c.1643 p.R548T 1 NULL - - no_errors DDX3X 1654 genome.wustl.edu 36 X 41091091 41091091 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 41091091 41091091 A C SNP DDX3X NM_001356 human genbank 54_36p 1 reviewed missense c.1651 p.N551H 1 NULL - - no_errors MAGED1 9500 genome.wustl.edu 36 X 51655066 51655066 + Nonsense_Mutation SNP A A T novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 51655066 51655066 A T SNP MAGED1 NM_001005333 human genbank 54_36p 1 reviewed nonsense c.391 p.K131* 1 NULL - - no_errors ARHGEF9 23229 genome.wustl.edu 36 X 62815163 62815163 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 62815163 62815163 C A SNP ARHGEF9 NM_015185 human genbank 54_36p -1 validated missense c.576 p.W192C 1 HMMPfam_RhoGEF HMMPfam_RhoGEF;HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_PH;superfamily_DBL homology domain (DH-domain);superfamily_PH domain-like - no_errors AR 367 genome.wustl.edu 36 X 66854056 66854056 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 66854056 66854056 T A SNP AR NM_000044 human genbank 54_36p 1 reviewed missense c.2185 p.L729I 0.98 HMMPfam_Hormone_recep HMMPfam_Hormone_recep;HMMPfam_Androgen_recep;HMMPfam_zf-C4;superfamily_Nuclear receptor ligand-binding domain;superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors KIF4A 24137 genome.wustl.edu 36 X 69490214 69490214 + Silent SNP A A G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 69490214 69490214 A G SNP KIF4A NM_012310 human genbank 54_36p 1 validated silent c.1506 p.P502 0.44 NULL HMMPfam_Kinesin;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors KLHL4 56062 genome.wustl.edu 36 X 86759705 86759705 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 86759705 86759705 C A SNP KLHL4 NM_057162 human genbank 54_36p 1 reviewed missense c.842 p.P281H 1 NULL HMMPfam_Kelch_1;superfamily_Galactose oxidase central domain;HMMPfam_BACK;HMMPfam_BTB;superfamily_POZ domain - no_errors LOC643486 643486 genome.wustl.edu 36 X 95479221 95479221 + RNA SNP C C G novel Unknown TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 5181630f-246a-4cb4-88c2-1534b5fb8e37 62d69c6c-457c-40d4-a43a-4aeb93c8bf80 X 95479221 95479221 C G SNP LOC643486 NR_003539 human genbank 54_36p -1 provisional rna NULL NULL 0.97 - - - pseudogene