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 MT-CYB 4519 genome.wustl.edu 36 MT 14881 14881 + Missense_Mutation SNP T C C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 MT 14881 14881 T C SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.134 p.I45T NULL superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region ZNF343 79175 genome.wustl.edu 36 20 2412454 2412454 + Missense_Mutation SNP C C G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 20 2412454 2412454 C G SNP ZNF343 NM_024325 human genbank 54_36p -1 validated missense c.1153 p.E385Q 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SDK1 221935 genome.wustl.edu 36 7 4243940 4243940 + Missense_Mutation SNP C A A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 7 4243940 4243940 C A SNP SDK1 NM_152744 human genbank 54_36p +1 validated missense c.6128 p.T2043K 0.984 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors FLJ46481 389197 genome.wustl.edu 36 4 6012054 6012054 + Missense_Mutation SNP G G C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 4 6012054 6012054 G C SNP FLJ46481 NM_207405 human genbank 54_36p -1 predicted missense c.780 p.S260R 0.027 NULL NULL - no_errors TP53 7157 genome.wustl.edu 36 17 7519131 7519131 + Missense_Mutation SNP C T T rs28934578 unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors CC2D2A 57545 genome.wustl.edu 36 4 15127381 15127381 + Silent SNP A A T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 4 15127381 15127381 A T SNP CC2D2A NM_001080522 human genbank 54_36p +1 validated silent c.1053 p.L351 0.956 NULL HMMSmart_C2 - no_errors CC2D2A 57545 genome.wustl.edu 36 4 15148811 15148811 + Silent SNP G G A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 4 15148811 15148811 G A SNP CC2D2A NM_001080522 human genbank 54_36p +1 validated silent c.1956 p.P652 0.873 NULL HMMSmart_C2 - no_errors CECR1 51816 genome.wustl.edu 36 22 16064629 16064629 + Missense_Mutation SNP G A A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 22 16064629 16064629 G A SNP CECR1 NM_017424 human genbank 54_36p -1 reviewed missense c.577 p.P193S 1.000 superfamily_SSF51556,HMMPfam_A_deaminase HMMPfam_A_deaminase_N,superfamily_SSF51556,HMMPfam_A_deaminase - no_errors KIF13A 63971 genome.wustl.edu 36 6 17902872 17902872 + Missense_Mutation SNP T T C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 6 17902872 17902872 T C SNP KIF13A NM_022113 human genbank 54_36p -1 validated missense c.2985 p.I995M 0.004 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMPfam_FHA - no_errors NAV2 89797 genome.wustl.edu 36 11 19926887 19926887 + Missense_Mutation SNP G G A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 11 19926887 19926887 G A SNP NAV2 NM_182964 human genbank 54_36p +1 validated missense c.2399 p.R800K 0.978 NULL superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382 - no_errors APOB 338 genome.wustl.edu 36 2 21079293 21079293 + Missense_Mutation SNP T T A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 2 21079293 21079293 T A SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.12506 p.D4169V 0.000 NULL superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081 - no_errors C17orf42 79736 genome.wustl.edu 36 17 26255213 26255213 + Silent SNP A C C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 26255213 26255213 A C SNP C17orf42 NM_024683 human genbank 54_36p -1 validated silent c.492 p.L164 0.994 NULL superfamily_Ribonuclease H-like - no_errors MYO3A 53904 genome.wustl.edu 36 10 26503232 26503232 + Missense_Mutation SNP G G A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 10 26503232 26503232 G A SNP MYO3A NM_017433 human genbank 54_36p +1 reviewed missense c.4033 p.E1345K 0.033 superfamily_SSF52540,HMMSmart_IQ PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ - no_errors FRG1B 284802 genome.wustl.edu 36 20 28225748 28225748 + RNA SNP C C T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 20 28225748 28225748 C T SNP FRG1B NR_003579 human genbank 54_36p +1 provisional rna NULL NULL 1.000 - - - pseudogene GBA2 57704 genome.wustl.edu 36 9 35731853 35731853 + Missense_Mutation SNP A A G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 9 35731853 35731853 A G SNP GBA2 NM_020944 human genbank 54_36p -1 reviewed missense c.602 p.V201A 0.996 NULL PatternScan_HMG_COA_REDUCTASE_2,superfamily_Six-hairpin glycosidases,HMMPfam_DUF608 - no_errors UBE2K 3093 genome.wustl.edu 36 4 39455696 39455696 + Splice_Site SNP G G C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 4 39455696 39455696 G C SNP UBE2K NM_005339 human genbank 54_36p +1 reviewed splice_site c.400-1 e6-1 1.000 - - - no_errors TMEM63B 55362 genome.wustl.edu 36 6 44226007 44226007 + Missense_Mutation SNP C C G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 6 44226007 44226007 C G SNP TMEM63B NM_018426 human genbank 54_36p +1 validated missense c.1589 p.P530R 1.000 HMMPfam_DUF221 HMMPfam_DUF221 - no_errors FCGBP 8857 genome.wustl.edu 36 19 45090206 45090206 + Missense_Mutation SNP C C A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 19 45090206 45090206 C A SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.6601 p.A2201S 0.002 HMMSmart_VWD,HMMPfam_VWD HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC - no_errors C21orf70 85395 genome.wustl.edu 36 21 45188036 45188036 + Missense_Mutation SNP T T C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 21 45188036 45188036 T C SNP C21orf70 NM_058190 human genbank 54_36p +1 predicted missense c.139 p.F47L 0.000 NULL NULL - no_errors USP32 84669 genome.wustl.edu 36 17 55639248 55639248 + Nonsense_Mutation SNP G A A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 55639248 55639248 G A SNP USP32 NM_032582 human genbank 54_36p -1 validated nonsense c.2953 p.R985* 1.000 superfamily_SSF54001,HMMPfam_UCH superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors STX16 8675 genome.wustl.edu 36 20 56679757 56679757 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 20 56679757 56679757 C T SNP STX16 NM_001001433 human genbank 54_36p +1 reviewed nonsense c.790 p.Q264* 1.000 superfamily_t-snare proteins,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN - no_errors GNAS 2778 genome.wustl.edu 36 20 56863449 56863449 + Missense_Mutation SNP A A G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 20 56863449 56863449 A G SNP GNAS NM_001077490 human genbank 54_36p +1 reviewed missense c.1547 p.E516G 0.007 NULL PatternScan_SECE_SEC61G - no_errors MON2 23041 genome.wustl.edu 36 12 61240924 61240924 + Missense_Mutation SNP T T G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 12 61240924 61240924 T G SNP MON2 NM_015026 human genbank 54_36p +1 validated missense c.3796 p.F1266V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_DUF1981 - no_errors CSN1S1 1446 genome.wustl.edu 36 4 70835016 70835016 + Missense_Mutation SNP A A G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 4 70835016 70835016 A G SNP CSN1S1 NM_001890 human genbank 54_36p +1 validated missense c.104 p.E35G 0.539 NULL PatternScan_CASEIN_ALPHA_BETA - no_errors ITGB4 3691 genome.wustl.edu 36 17 71243991 71243991 + Missense_Mutation SNP G G C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 71243991 71243991 G C SNP ITGB4 NM_000213 human genbank 54_36p +1 reviewed missense c.1789 p.E597Q 0.997 superfamily_EGF/Laminin,PatternScan_INTEGRIN_BETA HMMSmart_SM00423,HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like,superfamily_Integrin domains,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_INTEGRIN_BETA,HMMPfam_EGF_2,superfamily_Integrin beta tail domain,HMMPfam_Integrin_B_tail,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors QRICH2 84074 genome.wustl.edu 36 17 71789717 71789717 + Silent SNP C T T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 71789717 71789717 C T SNP QRICH2 NM_032134 human genbank 54_36p -1 provisional silent c.3588 p.P1196 0.000 NULL NULL - no_errors CYP26B1 56603 genome.wustl.edu 36 2 72212998 72212998 + Missense_Mutation SNP G G A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 2 72212998 72212998 G A SNP CYP26B1 NM_019885 human genbank 54_36p -1 reviewed missense c.1405 p.R469W 1.000 superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors ASPSCR1 79058 genome.wustl.edu 36 17 77567969 77567969 + Silent SNP C G G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 77567969 77567969 C G SNP ASPSCR1 NM_024083 human genbank 54_36p +1 reviewed silent c.1410 p.V470 0.065 NULL superfamily_Ubiquitin-like,HMMPfam_UBX - no_errors PAG1 55824 genome.wustl.edu 36 8 82051506 82051506 + Missense_Mutation SNP G T T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 8 82051506 82051506 G T SNP PAG1 NM_018440 human genbank 54_36p -1 reviewed missense c.1127 p.A376E 0.118 NULL NULL - no_errors ANKS1B 56899 genome.wustl.edu 36 12 98164294 98164294 + Missense_Mutation SNP G T T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 12 98164294 98164294 G T SNP ANKS1B NM_152788 human genbank 54_36p -1 validated missense c.2236 p.P746T 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID - no_errors LPPR4 9890 genome.wustl.edu 36 1 99544765 99544765 + Missense_Mutation SNP C C G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 1 99544765 99544765 C G SNP LPPR4 NM_014839 human genbank 54_36p +1 reviewed missense c.1903 p.Q635E 0.955 NULL superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014 - no_errors ZNF462 58499 genome.wustl.edu 36 9 108732709 108732709 + Missense_Mutation SNP A A G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 9 108732709 108732709 A G SNP ZNF462 NM_021224 human genbank 54_36p +1 validated missense c.5930 p.H1977R 1.000 superfamily_beta-sandwich domain of Sec23/24,HMMSmart_SM00355 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24 - no_errors ENSG00000203878 0 genome.wustl.edu 36 1 111626800 111626800 + Silent SNP C C T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 1 111626800 111626800 C T SNP ENSG00000203878 ENST00000369743 human ensembl 54_36p +1 known silent c.207 p.D69 0.997 HMMSmart_SM00636,HMMPfam_Glyco_hydro_18,superfamily_(Trans)glycosidases,PatternScan_CHITINASE_18 HMMSmart_SM00636,HMMPfam_Glyco_hydro_18,superfamily_(Trans)glycosidases,PatternScan_CHITINASE_18 - no_errors APC 324 genome.wustl.edu 36 5 112207612 112207612 + Missense_Mutation SNP C G G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 5 112207612 112207612 C G SNP APC NM_000038 human genbank 54_36p +1 reviewed missense c.8422 p.P2808A 0.960 HMMPfam_EB1_binding superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding - no_errors DBC1 1620 genome.wustl.edu 36 9 120969403 120969403 + Missense_Mutation SNP G G C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 9 120969403 120969403 G C SNP DBC1 NM_014618 human genbank 54_36p -1 validated missense c.2066 p.S689C 1.000 NULL HMMSmart_SM00457 - no_errors DBC1 1620 genome.wustl.edu 36 9 121040847 121040847 + Missense_Mutation SNP G G A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 9 121040847 121040847 G A SNP DBC1 NM_014618 human genbank 54_36p -1 validated missense c.592 p.R198C 1.000 HMMSmart_SM00457 HMMSmart_SM00457 - no_errors SNTB1 6641 genome.wustl.edu 36 8 121656553 121656553 + Missense_Mutation SNP C C T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 8 121656553 121656553 C T SNP SNTB1 NM_021021 human genbank 54_36p -1 reviewed missense c.1090 p.E364K 1.000 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 HMMSmart_SM00233,superfamily_PH domain-like,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_PH - no_errors LOC729794 0 genome.wustl.edu 36 10 124479049 124479049 + Missense_Mutation SNP T C C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 10 124479049 124479049 T C SNP LOC729794 XM_001718748 human genbank 54_36p +1 model missense c.278 p.V93A 0.900 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1 - no_errors SQLE 6713 genome.wustl.edu 36 8 126103325 126103325 + Missense_Mutation SNP A A G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 8 126103325 126103325 A G SNP SQLE ENST00000265896 human ensembl 54_36p +1 known missense c.1678 p.I560V 0.937 NULL superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,HMMPfam_SE - no_errors WDR33 55339 genome.wustl.edu 36 2 128244872 128244872 + Missense_Mutation SNP C C G novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 2 128244872 128244872 C G SNP WDR33 NM_018383 human genbank 54_36p -1 reviewed missense c.154 p.V52L 1.000 NULL PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_Collagen - no_errors USP20 10868 genome.wustl.edu 36 9 131671883 131671883 + Missense_Mutation SNP G G A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 9 131671883 131671883 G A SNP USP20 NM_001008563 human genbank 54_36p +1 validated missense c.1504 p.A502T 0.025 superfamily_SSF54001,HMMPfam_UCH HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,HMMSmart_DUSP - no_errors LOC644131 644131 genome.wustl.edu 36 1 145141862 145141862 + RNA SNP T T A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 1 145141862 145141862 T A SNP LOC644131 XR_017481 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - no_errors TCP1 6950 genome.wustl.edu 36 6 160126962 160126962 + Missense_Mutation SNP G T T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 6 160126962 160126962 G T SNP TCP1 NM_030752 human genbank 54_36p -1 reviewed missense c.337 p.H113N 1.000 superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1 superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_SSF54849,superfamily_SSF52029 - no_errors GRB14 2888 genome.wustl.edu 36 2 165073307 165073307 + Splice_Site SNP C C A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 2 165073307 165073307 C A SNP GRB14 NM_004490 human genbank 54_36p -1 reviewed splice_site c.928-1 e8-1 1.000 - - - no_errors MGAT1 4245 genome.wustl.edu 36 5 180152398 180152398 + Silent SNP G A A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 5 180152398 180152398 G A SNP MGAT1 NM_002406 human genbank 54_36p -1 reviewed silent c.180 p.D60 0.006 HMMPfam_GNT-I HMMPfam_GNT-I,superfamily_SSF53448 - no_errors ORC2L 4999 genome.wustl.edu 36 2 201493307 201493307 + Missense_Mutation SNP G G A novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 2 201493307 201493307 G A SNP ORC2L NM_006190 human genbank 54_36p -1 reviewed missense c.1349 p.T450I 1.000 HMMPfam_ORC2 HMMPfam_ORC2 - no_errors CABC1 56997 genome.wustl.edu 36 1 225240788 225240788 + Silent SNP C C T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 1 225240788 225240788 C T SNP CABC1 NM_020247 human genbank 54_36p +1 reviewed silent c.1671 p.D557 0.998 NULL HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like) - no_errors AQP12B 285192 genome.wustl.edu 36 2 241270980 241270980 + Missense_Mutation SNP C C T novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 2 241270980 241270980 C T SNP AQP12B ENST00000373310 human ensembl 54_36p -1 known missense c.16 p.A6T 0.000 NULL superfamily_MIP - no_start_codon NEU4 129807 genome.wustl.edu 36 2 242404541 242404541 + Missense_Mutation SNP G C C novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 2 242404541 242404541 G C SNP NEU4 NM_080741 human genbank 54_36p +1 reviewed missense c.223 p.G75R 0.673 superfamily_Sialidase superfamily_Sialidase - no_errors CLUL1 27098 genome.wustl.edu 36 18 623426 623429 + Frame_Shift_Del DEL CTAT CTAT - novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 CTAT CTAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 18 623426 623429 CTAT - DEL CLUL1 NM_014410 human genbank 54_36p +1 validated frame_shift_del c.985_988 p.S330fs 0.887:0.883:0.820:0.827 HMMPfam_Clusterin,HMMSmart_CLa HMMPfam_Clusterin,HMMSmart_CLb,HMMSmart_CLa (deletion:cds_exon[623298,623435]) no_errors CLUL1 27098 genome.wustl.edu 36 18 623434 623441 + Frame_Shift_Del DEL AGGTAAAT AGGTAAAT - novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 AGGTAAAT AGGTAAAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 18 623434 623441 AGGTAAAT - DEL CLUL1 NM_014410 human genbank 54_36p +1 validated frame_shift_del c.993_994 p.D332fs 0.926:0.995 HMMPfam_Clusterin,HMMSmart_CLa HMMPfam_Clusterin,HMMSmart_CLb,HMMSmart_CLa (deletion:cds_exon[623298,623435], intron[623436,631326]) no_errors NF1 4763 genome.wustl.edu 36 17 26574632 26574649 + In_Frame_Del DEL AAATGCTTAGTAGCACAG AAATGCTTAGTAGCACAG - novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 AAATGCTTAGTAGCACAG AAATGCTTAGTAGCACAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 26574632 26574649 AAATGCTTAGTAGCACAG - DEL NF1 NM_001042492 human genbank 54_36p +1 reviewed in_frame_del c.1766_1783 p.MLSSTE590in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516 (deletion:cds_exon[26574588,26574711]) no_errors NF1 4763 genome.wustl.edu 36 17 26574697 26574698 + Frame_Shift_Ins INS - - TTCTTAAATA novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 26574697 26574698 - TTCTTAAATA INS NF1 NM_001042492 human genbank 54_36p +1 reviewed frame_shift_ins c.1831_1832 p.N614fs 1.000:1.000 NULL HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP - no_errors AKAP6 9472 genome.wustl.edu 36 14 32084666 32084690 + Frame_Shift_Del DEL CCATCATGATGCAAAGAATCAGCAG CCATCATGATGCAAAGAATCAGCAG - novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 CCATCATGATGCAAAGAATCAGCAG CCATCATGATGCAAAGAATCAGCAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 14 32084666 32084690 CCATCATGATGCAAAGAATCAGCAG - DEL AKAP6 NM_004274 human genbank 54_36p +1 reviewed frame_shift_del c.1056_1080 p.H353fs 0.000:0.001:0.001:0.000:0.024:0.031:0.775:0.838:0.823:0.648:0.398:0.386:0.359:0.349:0.268:0.124:0.020:0.005:0.005:0.024:0.071:0.162:0.312:0.332:0.316 NULL HMMSmart_SM00150,superfamily_Spectrin repeat,PatternScan_PFKB_KINASES_2 (deletion:cds_exon[32084187,32085956]) no_errors QSER1 79832 genome.wustl.edu 36 11 32912523 32912526 + Frame_Shift_Del DEL CTTC CTTC - novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 CTTC CTTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 11 32912523 32912526 CTTC - DEL QSER1 NM_001076786 human genbank 54_36p +1 provisional frame_shift_del c.2756_2759 p.S920fs 1.000:1.000:1.000:1.000 NULL NULL (deletion:cds_exon[32909865,32913557]) no_errors BRCA1 672 genome.wustl.edu 36 17 38497511 38497512 + Frame_Shift_Del DEL CT CT - novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 CT CT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 17 38497511 38497512 CT - DEL BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_del c.3563_3562 p.R1188fs 0.017:0.015 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain (deletion:cds_exon[38496978,38500403]) no_errors MEPE 56955 genome.wustl.edu 36 4 88986059 88986059 + Frame_Shift_Del DEL A A - novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 4 88986059 88986059 A - DEL MEPE NM_020203 human genbank 54_36p +1 validated frame_shift_del c.1015 p.N339fs 0.372 NULL HMMPfam_Osteoregulin (deletion:cds_exon[88985153,88986622]) no_errors DDX18 8886 genome.wustl.edu 36 2 118291764 118291764 + Frame_Shift_Del DEL T T - novel unknown TCGA-29-1776-01A-01W-0639-09 TCGA-29-1776-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 58c1b2cd-7f66-46f3-b352-3b4428c6052d f434f2ce-fcb7-46a3-95b6-b0fa37416b11 2 118291764 118291764 T - DEL DDX18 NM_006773 human genbank 54_36p +1 reviewed frame_shift_del c.360 p.D120fs 0.243 superfamily_SSF52540 superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C (deletion:cds_exon[118291490,118291774]) no_errors