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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain TTC4 7268 genome.wustl.edu 37 1 55183250 55183250 + Silent SNP C C G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_004623.3 +1 validated p.G105 0.296 100 0% 85 23.5% 27 11.1% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 ITGB3BP 23421 genome.wustl.edu 37 1 63974241 63974241 + Silent SNP A A G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_014288.3 -1 provisional p.P2 0.994 4 0.000 21 0.524 26 61.5% - - - NULL CCDC18 343099 genome.wustl.edu 37 1 93730267 93730267 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_206886.2 +1 validated p.H1350Y 1.000 132 0% 87 43.7% 3 0% benign(0.025) deleterious(0) neutral(0.446) NULL VPS45 11311 genome.wustl.edu 37 1 150054878 150054878 + Missense_Mutation SNP T T C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_007259.3 +1 reviewed p.S339P 1.000 81 0% 136 24.3% 23 17.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins CELF3 11189 genome.wustl.edu 37 1 151680007 151680007 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_007185.4 -1 reviewed p.A250T 1.000 23 0% 13 61.5% 0 - benign(0.005) tolerated(0.17) neutral(0.059) NULL CFHR2 3080 genome.wustl.edu 37 1 196920084 196920084 + Missense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_005666.2 +1 validated p.R119K 0.200 240 0% 266 44.4% 0 - benign(0.124) tolerated(0.73) neutral(0.011) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain FMN2 56776 genome.wustl.edu 37 1 240256714 240256714 + Missense_Mutation SNP G G C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_020066.4 +1 validated p.Q435H 0.957 33 0% 32 25% 0 - unknown(0) deleterious(0.01) - NULL RNASEH1 246243 genome.wustl.edu 37 2 3595520 3595520 + Splice_Site SNP C C A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_002936.3 -1 validated e7+1 1.000 517 0% 450 43.8% 0 - - - - - VIT 5212 genome.wustl.edu 37 2 37014355 37014355 + Missense_Mutation SNP G G T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_053276.3 +1 validated p.A332S 0.101 82 0% 99 52.5% 0 - benign(0) tolerated(0.57) neutral(0.006) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 PCDP1 200373 genome.wustl.edu 37 2 120369296 120369296 + Missense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001029996.3 +1 validated p.R144Q 0.093 99 0% 155 41.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POTEF 728378 genome.wustl.edu 37 2 130832835 130832835 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001099771.2 -1 validated p.R737H 1.000 76 0% 102 40.2% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 IL17RE 132014 genome.wustl.edu 37 3 9953125 9953125 + Splice_Site SNP A A C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_153480.1 +1 reviewed e12-2 0.002 213 0% 146 52.1% 0 - - - - - ZNF501 115560 genome.wustl.edu 37 3 44776147 44776147 + Silent SNP T T C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_145044.2 +1 validated p.Y78 0.000 201 0% 186 33.9% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DCBLD2 131566 genome.wustl.edu 37 3 98531230 98531230 + Missense_Mutation SNP G G C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_080927.3 -1 validated p.Q437E 1.000 183 0% 283 40.6% 10 60% possibly_damaging(0.496) tolerated(0.45) neutral(0.178) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like ECE2 9718 genome.wustl.edu 37 3 184008893 184008893 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_014693.3 +1 validated p.R752W 1.000 92 0% 109 35.8% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" TLR10 81793 genome.wustl.edu 37 4 38774970 38774970 + Missense_Mutation SNP G G C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001017388.1 -1 reviewed p.L748V 0.994 181 0% 143 23.8% 0 - possibly_damaging(0.76) deleterious(0) deleterious(0.726) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR CMBL 134147 genome.wustl.edu 37 5 10280653 10280653 + Missense_Mutation SNP C C A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_138809.3 -1 validated p.R217L 0.601 157 0.6% 168 45.8% 26 50% possibly_damaging(0.809) deleterious(0) deleterious(0.749) HMMPfam_DLH,superfamily_SSF53474 FAM169A 26049 genome.wustl.edu 37 5 74077402 74077402 + Silent SNP A A G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_015566.1 -1 validated p.A632 0.988 182 0% 98 87.8% 0 - - - - NULL PSD2 84249 genome.wustl.edu 37 5 139193933 139193933 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_032289.2 +1 provisional p.R334W 1.000 130 0% 32 81.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain SLC34A1 6569 genome.wustl.edu 37 5 176813059 176813059 + Missense_Mutation SNP A A C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_003052.4 +1 reviewed p.T61P 0.583 36 0% 18 22.2% 0 - benign(0.086) tolerated(0.23) neutral(0.048) NULL DLK2 65989 genome.wustl.edu 37 6 43418773 43418773 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_023932.2 -1 validated p.R219H 0.142 63 0% 50 42% 7 57.1% probably_damaging(0.984) tolerated(0.14) deleterious(0.680) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin DST 667 genome.wustl.edu 37 6 56371311 56371311 + Missense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_015548.4 -1 reviewed p.A3842V 1.000 52 0% 87 40.2% 6 50% benign(0.043) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat AASS 10157 genome.wustl.edu 37 7 121773629 121773629 + Missense_Mutation SNP G G C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_005763.3 -1 reviewed p.T51S 1.000 167 0% 169 45.6% 2 50% possibly_damaging(0.623) deleterious(0.01) deleterious(0.623) HMMPfam_AlaDh_PNT_N,superfamily_Formate/glycerate dehydrogenase catalytic domain-like RAD21 5885 genome.wustl.edu 37 8 117859785 117859785 + Missense_Mutation SNP T T C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_006265.2 -1 reviewed p.Y617C 1.000 212 0% 391 52.2% 581 56.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Rad21_Rec8 ZFAND5 7763 genome.wustl.edu 37 9 74971925 74971939 + In_Frame_Del DEL TCTGAGAAGTACTGG TCTGAGAAGTACTGG - novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 TCTGAGAAGTACTGG TCTGAGAAGTACTGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001102420.1 -1 validated p.PSTSQS134in_frame_delR 0.997:0.976:0.987:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.875:0.743:1.000 - - - - - - - - - NULL NTRK2 4915 genome.wustl.edu 37 9 87636297 87636297 + Missense_Mutation SNP C C G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_006180.3 +1 reviewed p.T821S 1.000 197 0% 84 40.5% 0 - benign(0) tolerated(0.78) neutral(0.001) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like OLAH 55301 genome.wustl.edu 37 10 15107688 15107688 + Missense_Mutation SNP A A G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_018324.2 +1 validated p.K223E 0.000 99 0% 103 24.3% 0 - benign(0.221) tolerated(0.85) neutral(0.022) HMMPfam_Thioesterase,superfamily_SSF53474 COL13A1 1305 genome.wustl.edu 37 10 71690164 71690164 + Silent SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 ENST00000398975 +1 known p.A47V 0.998 24 0% 20 40% 17 17.6% - - - HMMPfam_Collagen COX15 1355 genome.wustl.edu 37 10 101489413 101489413 + Missense_Mutation SNP T T C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_078470.4 -1 reviewed p.T57A 0.077 179 0% 86 88.4% 9 88.8% benign(0.004) tolerated(0.44) neutral(0.013) superfamily_Trypsin-like serine proteases GBF1 8729 genome.wustl.edu 37 10 104136805 104136805 + Missense_Mutation SNP C C A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_004193.1 +1 provisional p.Q1467K 1.000 242 0% 183 25.7% 48 20.8% benign(0.235) tolerated(0.85) neutral(0.024) NULL ACTR1A 10121 genome.wustl.edu 37 10 104248873 104248873 + Missense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_005736.3 -1 reviewed p.R46C 1.000 156 0% 116 49.1% 94 37.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain OR52I2 143502 genome.wustl.edu 37 11 4608683 4608683 + Nonsense_Mutation SNP T T A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001005170.2 +1 validated p.L214* 0.947 463 0% 351 20.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 METTL15 196074 genome.wustl.edu 37 11 28232699 28232699 + Missense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001113528.1 +1 validated p.D121N 1.000 199 0% 175 20.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Methyltransf_5,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ZNF408 79797 genome.wustl.edu 37 11 46724260 46724260 + Missense_Mutation SNP T T G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_024741.2 +1 validated p.S113A 0.077 75 0% 48 12.5% 17 11.7% possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) NULL SYT12 91683 genome.wustl.edu 37 11 66816068 66816068 + Missense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_177963.3 +1 reviewed p.R369H 0.999 26 0% 18 27.8% 5 60% probably_damaging(1) tolerated(0.52) deleterious(0.508) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RAB30 27314 genome.wustl.edu 37 11 82693295 82693295 + Missense_Mutation SNP C C G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_014488.3 -1 provisional p.R175T 1.000 209 0% 162 45.1% 1 0% benign(0.196) tolerated(0.52) neutral(0.027) HMMSmart_SM00176 OR8B2 26595 genome.wustl.edu 37 11 124253223 124253223 + Missense_Mutation SNP T T C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001005468.1 -1 provisional p.N6S 0.000 309 0% 501 25% 0 - benign(0) tolerated(0.59) neutral(0.004) superfamily_SSF81321 LOC100128095 100128095 genome.wustl.edu 37 11 132813069 132813069 + Missense_Mutation SNP C C A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 XM_002343137.1 +1 model p.S101R 0.000 26 0% 15 73.3% 0 - - - - NULL CHD4 1108 genome.wustl.edu 37 12 6697540 6697540 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001273.2 -1 reviewed p.G1130D 1.000 180 0% 160 57.5% 132 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases KRT5 3852 genome.wustl.edu 37 12 52908779 52908779 + Missense_Mutation SNP T T G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_000424.3 -1 reviewed p.S574R 1.000 32 0% 22 22.7% 0 - unknown(0) deleterious(0) - NULL NACA 4666 genome.wustl.edu 37 12 57108409 57108409 + Frame_Shift_Del DEL G G - novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001113203.1 -1 validated p.Q1908fs 1.000 - - - - - - - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112628763 112628763 + Missense_Mutation SNP G G C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001109662.2 -1 validated p.S2678C 1.000 9 0.000 5 0.800 4 75% probably_damaging(0.999) - - NULL VPS33A 65082 genome.wustl.edu 37 12 122735536 122735536 + Silent SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_022916.4 -1 validated p.C198 0.953 80 0% 52 19.2% 12 25% - - - HMMPfam_Sec1,superfamily_Sec1-like IGHV5-51 28388 genome.wustl.edu 37 14 107034953 107034953 + Missense_Mutation SNP C C A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 ENST00000390626 -1 known p.G43C 0.000 89 0% 97 23.7% 9 0% benign(0.319) deleterious(0) deleterious(0.544) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 ENSG00000215407 0 genome.wustl.edu 37 15 20433948 20433948 + Silent SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 ENST00000400226 -1 known p.V558 0.006 319 0% 217 11.5% 27 0% - - - NULL MYO5A 4644 genome.wustl.edu 37 15 52611397 52611397 + Silent SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_000259.3 -1 reviewed p.S1673 0.117 175 0% 82 62.2% 5 60% - - - NULL UACA 55075 genome.wustl.edu 37 15 70960571 70960571 + Missense_Mutation SNP A A G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_018003.2 -1 validated p.S818P 1.000 336 0% 200 62% 25 76% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Pox_A_type_inc ARHGAP17 55114 genome.wustl.edu 37 16 24942666 24942666 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001006634.1 -1 validated p.G652R 0.983 26 0% 29 89.7% 16 87.5% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL APOBR 55911 genome.wustl.edu 37 16 28508857 28508857 + Missense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_018690.2 +1 reviewed p.R823K 0.000 76 0% 35 25.7% 1 0% possibly_damaging(0.806) tolerated(0.41) neutral(0.319) NULL NLRP1 22861 genome.wustl.edu 37 17 5462804 5462804 + Silent SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_033004.3 -1 reviewed p.R404 0.004 138 0% 63 92.1% 6 100% - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases TP53 7157 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_000546.4 -1 reviewed p.R273H 0.864 142 0% 53 92.5% 114 100% possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) superfamily_p53-like transcription factors,HMMPfam_P53 MYH1 4619 genome.wustl.edu 37 17 10419305 10419305 + Missense_Mutation SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_005963.3 -1 reviewed p.R148H 1.000 222 0% 160 84.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MPP3 4356 genome.wustl.edu 37 17 41903184 41903184 + Silent SNP G G C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001932.3 -1 reviewed p.L183 1.000 23 0% 14 57.1% 1 0% - - - superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SPOP 8405 genome.wustl.edu 37 17 47696404 47696404 + Missense_Mutation SNP T T C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001007226.1 -1 reviewed p.D140G 1.000 299 0% 341 51.9% 22 54.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like FAM59A 64762 genome.wustl.edu 37 18 29868043 29868043 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_022751.1 -1 provisional p.R173* 0.890 172 0% 178 44.4% 4 50% - - - NULL NETO1 81832 genome.wustl.edu 37 18 70461454 70461454 + Silent SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_138966.2 -1 reviewed p.S179 0.040 174 0% 302 28.5% 0 - - - - HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MAP2K2 5605 genome.wustl.edu 37 19 4117521 4117521 + Missense_Mutation SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_030662.3 -1 reviewed p.L67F 1.000 17 0% 10 40% 116 50.8% benign(0.333) deleterious(0) deleterious(0.549) superfamily_Kinase_like ZNF560 147741 genome.wustl.edu 37 19 9579837 9579838 + Frame_Shift_Ins INS - - T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_152476.2 -1 validated p.G185fs 0.000:0.000 - - - - - - - - - NULL MAG 4099 genome.wustl.edu 37 19 35804277 35804277 + Missense_Mutation SNP G G T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_002361.2 +1 reviewed p.D601Y 1.000 67 0% 63 22.2% 35 48.5% possibly_damaging(0.907) deleterious(0) deleterious(0.805) NULL ZNF224 7767 genome.wustl.edu 37 19 44610952 44610952 + Silent SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_013398.2 +1 validated p.F213 0.000 403 0% 331 45.9% 12 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PRKCG 5582 genome.wustl.edu 37 19 54403573 54403573 + Silent SNP T T C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_002739.3 +1 reviewed p.H456 0.966 100 0% 73 54.8% 2 100% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase KCNB1 3745 genome.wustl.edu 37 20 47989981 47989981 + Missense_Mutation SNP C C A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_004975.2 -1 reviewed p.A706S 0.727 80 0% 55 36.4% 0 - benign(0.001) tolerated(0.55) neutral(0.007) HMMPfam_Kv2channel GABPA 2551 genome.wustl.edu 37 21 27117603 27117603 + Missense_Mutation SNP C C G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_002040.3 +1 validated p.L54V 1.000 115 0% 108 57.4% 1 0% benign(0.418) tolerated(0.08) neutral(0.435) NULL DSCAM 1826 genome.wustl.edu 37 21 41457572 41457572 + Missense_Mutation SNP G G T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_001389.3 -1 validated p.N1363K 1.000 195 0% 214 25.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ENSG00000210082 0 genome.wustl.edu 37 MT 3031 3031 + RNA SNP G G A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 ENST00000387347 +1 known NULL NULL 61 0% 26 96.2% 4562 97.3% - - - - UPRT 139596 genome.wustl.edu 37 X 74494254 74494254 + Silent SNP C C T novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_145052.3 +1 reviewed p.Y55 0.001 52 0% 29 41.4% 0 - - - - NULL TEX13A 56157 genome.wustl.edu 37 X 104464320 104464320 + Silent SNP A A C novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 ENST00000413579 -1 known p.G186 0.000 55 0% 42 28.6% 0 - - - - NULL UPF3B 65109 genome.wustl.edu 37 X 118977240 118977240 + Missense_Mutation SNP T T A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_080632.1 -1 reviewed p.E165V 1.000 180 0% 132 35.6% 18 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Smg4_UPF3 UPF3B 65109 genome.wustl.edu 37 X 118977241 118977241 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_080632.1 -1 reviewed p.E165* 1.000 180 0% 133 36.1% 18 100% - - - HMMPfam_Smg4_UPF3 USP26 83844 genome.wustl.edu 37 X 132160573 132160573 + Missense_Mutation SNP A A G novel TCGA-AP-A0L8-01A-11W-A062-09 TCGA-AP-A0L8-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db70be34-e19c-4127-8d0c-4b648ff236ad 6b5f36a6-7f6c-4a7c-bfcd-9ac949fbd403 NM_031907.1 -1 reviewed p.L559P 0.000 389 0% 255 12.9% 0 - benign(0.187) tolerated(0.08) neutral(0.318) HMMPfam_UCH,superfamily_Cysteine proteinases