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 ACAP3 116983 genome.wustl.edu 37 1 1231487 1231487 + Silent SNP C C G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_030649.2 -1 validated p.L470 1.000 46 0% 50 12% - - - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain ARID1A 8289 genome.wustl.edu 37 1 27100207 27100207 + Nonsense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_006015.4 +1 reviewed p.R1335* 0.945 56 0% 46 39.1% - - - - - NULL FPGT 8790 genome.wustl.edu 37 1 74670281 74670281 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_003838.2 +1 reviewed p.D184N 1.000 104 0% 94 38.3% - - probably_damaging(0.985) deleterious(0.02) deleterious(0.815) HMMPfam_Fucokinase NBPF14 25832 genome.wustl.edu 37 1 148011763 148011763 + Silent SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 ENST00000310701 -1 known p.R500K 0.181 11 0% 11 36.4% - - - - - NULL SMC6 79677 genome.wustl.edu 37 2 17876520 17876520 + Silent SNP T T C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001142286.1 -1 validated p.E859 1.000 179 0% 232 50.4% - - - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD36 375248 genome.wustl.edu 37 2 97875549 97875549 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 ENST00000461153 +1 known p.E933K 0.035 362 0% 595 14.3% - - benign(0.043) tolerated(0.27) neutral(0.036) NULL ZNF804A 91752 genome.wustl.edu 37 2 185800787 185800787 + Missense_Mutation SNP G G C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_194250.1 +1 provisional p.A222P 1.000 39 0% 52 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SF3B1 23451 genome.wustl.edu 37 2 198267350 198267350 + Missense_Mutation SNP T T A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_012433.2 -1 reviewed p.Q669H 1.000 131 0% 144 42.4% - - probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_ARM repeat ADAM23 8745 genome.wustl.edu 37 2 207460838 207460838 + Missense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_003812.2 +1 reviewed p.R771W 1.000 93 0% 102 51% - - possibly_damaging(0.884) tolerated(0.18) neutral(0.401) NULL EPHB1 2047 genome.wustl.edu 37 3 134825394 134825394 + Missense_Mutation SNP C C G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_004441.4 +1 reviewed p.R304G 1.000 45 0% 56 16.1% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL TNIK 23043 genome.wustl.edu 37 3 170800136 170800136 + Nonsense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_015028.2 -1 validated p.R1073* 1.000 101 0% 95 35.8% - - - - - HMMPfam_CNH,HMMSmart_SM00036 PIK3CA 5290 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_006218.2 +1 reviewed p.Q546R 1.000 94 0% 89 41.6% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold MUC4 4585 genome.wustl.edu 37 3 195509355 195509355 + Silent SNP T T G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_018406.5 -1 reviewed p.S2904 0.045 181 0% 231 17.3% - - - - - NULL MFI2 4241 genome.wustl.edu 37 3 196735829 196735829 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_005929.4 -1 reviewed p.S511 0.377 81 0% 77 35.1% - - - - - HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II RNF212 285498 genome.wustl.edu 37 4 1066796 1066796 + Missense_Mutation SNP G G C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001131034.1 -1 validated p.P254A 0.000 76 0% 75 32% - - unknown(0) - - NULL SORCS2 57537 genome.wustl.edu 37 4 7698925 7698925 + Missense_Mutation SNP G G C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_020777.2 +1 reviewed p.G531A 1.000 67 0% 59 27.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase LOC729862 729862 genome.wustl.edu 37 5 28927120 28927120 + RNA SNP C C A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 XR_040872.2 +1 model NULL 0.555 57 0% 50 24% - - - - - - PLK2 10769 genome.wustl.edu 37 5 57750461 57750461 + Missense_Mutation SNP T T A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_006622.2 -1 validated p.L669F 0.997 157 0% 155 27.1% - - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_POLO_box,superfamily_SSF82615 TNPO1 3842 genome.wustl.edu 37 5 72192969 72192969 + Missense_Mutation SNP G G C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_002270.3 +1 reviewed p.E777Q 1.000 71 0% 73 24.7% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_ARM repeat LRRTM2 26045 genome.wustl.edu 37 5 138208849 138208849 + Silent SNP G G C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_015564.2 -1 validated p.L467 1.000 177 0% 155 28.4% - - - - - NULL PCDHGA2 56113 genome.wustl.edu 37 5 140720411 140720411 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_018915.2 +1 reviewed p.E625K 0.999 30 0% 36 25% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like GRIA1 2890 genome.wustl.edu 37 5 153175040 153175040 + Missense_Mutation SNP C C A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001114183.1 +1 reviewed p.P759T 1.000 104 0% 87 33.3% - - possibly_damaging(0.681) deleterious(0.05) deleterious(0.589) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 CAGE1 285782 genome.wustl.edu 37 6 7373473 7373473 + Silent SNP T T G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_205864.2 -1 validated p.R391 0.580 250 0.4% 231 11.3% - - - - - NULL BMP5 653 genome.wustl.edu 37 6 55638897 55638897 + Missense_Mutation SNP C C A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_021073.2 -1 reviewed p.R326L 1.000 173 0% 147 40.8% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL ME1 4199 genome.wustl.edu 37 6 83937058 83937058 + Missense_Mutation SNP G G C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_002395.4 -1 reviewed p.T424S 0.997 104 0% 99 38.4% - - benign(0.261) tolerated(0.06) neutral(0.350) HMMPfam_Malic_M,superfamily_NAD(P)-bd ZNF292 23036 genome.wustl.edu 37 6 87953295 87953295 + Missense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_015021.1 +1 validated p.R282C 1.000 181 0% 137 29.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MICAL1 64780 genome.wustl.edu 37 6 109771700 109771700 + Missense_Mutation SNP G G T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_022765.3 -1 validated p.R332S 0.807 15 0% 10 40% - - benign(0.002) tolerated(1) - superfamily_FAD/NAD(P)-binding domain LOC340268 340268 genome.wustl.edu 37 7 9766906 9766906 + RNA SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 XR_041608.1 +1 model NULL 1.000 49 0% 58 34.5% - - - - - - SUMF2 25870 genome.wustl.edu 37 7 56136278 56136278 + Silent SNP G G T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001130069.1 +1 reviewed p.A76 0.183 72 0% 57 40.4% - - - - - HMMPfam_DUF323 LAMB4 22798 genome.wustl.edu 37 7 107698340 107698340 + Missense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_007356.2 -1 validated p.G1106S 0.001 76 0% 88 56.8% - - benign(0.072) deleterious(0.02) neutral(0.388) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin IRF5 3663 genome.wustl.edu 37 7 128586026 128586026 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001098629.1 +1 reviewed p.R108Q 1.000 34 0% 45 44.4% - - possibly_damaging(0.435) tolerated(0.68) neutral(0.144) HMMPfam_IRF,HMMSmart_IRF,superfamily_SSF46785 CDH17 1015 genome.wustl.edu 37 8 95188893 95188893 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001144663.1 -1 reviewed p.D100 0.931 136 0% 199 22.6% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like MYC 4609 genome.wustl.edu 37 8 128752960 128752960 + Missense_Mutation SNP A A G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_002467.4 +1 reviewed p.H374R 1.000 41 0% 90 70% - - possibly_damaging(0.677) deleterious(0) deleterious(0.685) HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain KCNK9 51305 genome.wustl.edu 37 8 140630721 140630721 + Missense_Mutation SNP T T A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_016601.2 -1 reviewed p.Y302F 1.000 26 0% 49 28.6% - - possibly_damaging(0.851) tolerated(0.23) neutral(0.368) NULL RECQL4 9401 genome.wustl.edu 37 8 145740586 145740586 + Silent SNP C C G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 ENST00000428558 -1 known p.G477 0.020 38 0% 34 44.1% - - - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases C10orf54 64115 genome.wustl.edu 37 10 73521700 73521700 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_022153.1 -1 validated p.L56F 0.000 23 0% 39 25.6% - - possibly_damaging(0.583) tolerated(0.15) neutral(0.442) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin GLRX3 10539 genome.wustl.edu 37 10 131973150 131973150 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_006541.3 +1 provisional p.D282N 1.000 260 0% 204 29.9% - - possibly_damaging(0.919) tolerated(0.12) deleterious(0.630) HMMPfam_Glutaredoxin,superfamily_Thiordxn-like_fd PAMR1 25891 genome.wustl.edu 37 11 35515710 35515710 + Missense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_015430.2 -1 validated p.V62M 1.000 91 0% 117 35.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OR5M8 219484 genome.wustl.edu 37 11 56258113 56258113 + Missense_Mutation SNP G G T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001005282.1 -1 provisional p.T245K 0.023 40 0% 31 32.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LTBP3 4054 genome.wustl.edu 37 11 65321625 65321625 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001130144.2 -1 reviewed p.Y186 0.998 20 0% 13 38.5% - - - - - NULL ATM 472 genome.wustl.edu 37 11 108175401 108175401 + Splice_Site SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_000051.3 +1 reviewed e36-1 1.000 138 0% 95 28.4% - - - - - - OR10G8 219869 genome.wustl.edu 37 11 123900503 123900503 + Nonsense_Mutation SNP C C G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001004464.1 +1 provisional p.Y58* 1.000 180 0% 172 40.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CHD4 1108 genome.wustl.edu 37 12 6697009 6697011 + In_Frame_Del DEL TTC TTC - novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001273.2 -1 reviewed p.K1191in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_033360.2 -1 reviewed p.G12D 1.000 78 0% 98 52% - - possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases LRIG3 121227 genome.wustl.edu 37 12 59274659 59274659 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_153377.3 -1 provisional p.T502M 1.000 147 0% 193 24.4% - - probably_damaging(0.994) tolerated(0.11) deleterious(0.724) HMMPfam_I-set,superfamily_Immunoglobulin RIMBP2 23504 genome.wustl.edu 37 12 130921738 130921738 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_015347.4 -1 validated p.S568 0.000 14 0% 12 58.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MYH7 4625 genome.wustl.edu 37 14 23899003 23899003 + Silent SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_000257.2 -1 reviewed p.A373 0.106 102 0% 86 33.7% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CYFIP1 23191 genome.wustl.edu 37 15 22940829 22940829 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_014608.2 +1 validated p.R365H 1.000 26 0% 21 28.6% - - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_FragX_IP ZNF280D 54816 genome.wustl.edu 37 15 56993092 56993092 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001002844.1 -1 validated p.S140 0.008 61 0% 73 31.5% - - - - - NULL SIN3A 25942 genome.wustl.edu 37 15 75694272 75694280 + In_Frame_Del DEL AATTTTCGT AATTTTCGT - novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 AATTTTCGT AATTTTCGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001145357.1 -1 reviewed p.YEN480in_frame_del 1.000:1.000:1.000:1.000:0.986:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_PAH,superfamily_PAH SEMA4B 10509 genome.wustl.edu 37 15 90767151 90767151 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_020210.3 +1 validated p.K375 1.000 32 0% 29 41.4% - - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PIEZO1 9780 genome.wustl.edu 37 16 88792792 88792792 + Missense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 ENST00000451779 -1 known p.V827I 0.966 36 0% 22 63.6% - - benign(0) tolerated(1) - NULL SLC5A10 125206 genome.wustl.edu 37 17 18862455 18862455 + Missense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_152351.3 +1 validated p.A64V 1.000 30 0% 30 40% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SSF PIPOX 51268 genome.wustl.edu 37 17 27371920 27371920 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_016518.2 +1 validated p.R53Q 1.000 112 0% 104 30.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain KRTAP4-5 85289 genome.wustl.edu 37 17 39305775 39305776 + In_Frame_Ins INS - - GGCAGCAGCTGGGGA rs141265645 TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_033188.3 -1 reviewed p.82in_frame_insLPSCC 0.148:0.743 - - - - - - - - - PatternScan_TNFR_NGFR_1,HMMPfam_Keratin_B2 CD7 924 genome.wustl.edu 37 17 80274787 80274787 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_006137.6 -1 reviewed p.S51 0.000 28 0% 29 55.2% - - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin COLEC12 81035 genome.wustl.edu 37 18 333075 333075 + Missense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_130386.2 -1 validated p.E629K 1.000 79 0% 60 40% - - possibly_damaging(0.85) - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ZNF700 90592 genome.wustl.edu 37 19 12060176 12060176 + Missense_Mutation SNP A A G rs189372843 by1000genomes TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_144566.1 +1 provisional p.Y446C 0.006 85 0% 63 33.3% - - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000233422 0 genome.wustl.edu 37 19 14859127 14859128 + RNA INS - - TTTTATTTTA novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 ENST00000430444 +1 known NULL 0.237:0.246 - - - - - - - - - - CABP5 56344 genome.wustl.edu 37 19 48543970 48543970 + Nonsense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_019855.3 -1 reviewed p.R44* 1.000 49 0% 57 36.8% - - - - - HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 CPT1C 126129 genome.wustl.edu 37 19 50212045 50212045 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_152359.1 +1 provisional p.P505 0.010 25 0% 22 22.7% - - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases SIRPB1 10326 genome.wustl.edu 37 20 1546900 1546900 + Silent SNP A A G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_006065.3 -1 reviewed p.A366 0.000 57 0% 45 42.2% - - - - - NULL C20orf196 149840 genome.wustl.edu 37 20 5753580 5753580 + Silent SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_152504.2 +1 predicted p.A23 0.000 58 0% 67 29.9% - - - - - NULL ACSS1 84532 genome.wustl.edu 37 20 24990007 24990007 + Missense_Mutation SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_032501.2 -1 reviewed p.V597M 0.987 75 0% 76 35.5% - - benign(0.038) deleterious(0.03) neutral(0.366) superfamily_Acetyl-CoA synthetase-like HLCS 3141 genome.wustl.edu 37 21 38139568 38139568 + Silent SNP C C T novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_000411.5 -1 reviewed p.P490 0.022 54 0% 56 28.6% - - - - - HMMPfam_BPL_LipA_LipB,superfamily_SSF55681 SEC14L4 284904 genome.wustl.edu 37 22 30887722 30887722 + Missense_Mutation SNP A A C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_174977.3 -1 reviewed p.F307V 1.000 40 0% 38 36.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Supernatant protein factor (SPF) C-terminal domain PRICKLE3 4007 genome.wustl.edu 37 X 49032263 49032263 + Missense_Mutation SNP G G A novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_006150.3 -1 reviewed p.A536V 0.006 59 0% 47 27.7% - - benign(0.03) tolerated(0.06) neutral(0.324) NULL CYSLTR1 10800 genome.wustl.edu 37 X 77528311 77528311 + Missense_Mutation SNP C C G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_006639.2 -1 reviewed p.K311N 1.000 54 0% 78 33.3% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_Family A G protein-coupled receptor-like IRS4 8471 genome.wustl.edu 37 X 107978447 107978447 + Silent SNP G G C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_003604.2 -1 reviewed p.R376 0.642 25 0% 24 58.3% - - - - - NULL GRIA3 2892 genome.wustl.edu 37 X 122528925 122528925 + Missense_Mutation SNP G G C novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 ENST00000264357 +1 known p.R286P 1.000 75 0% 61 41% - - possibly_damaging(0.934) tolerated(0.06) deleterious(0.703) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I BRS3 680 genome.wustl.edu 37 X 135570305 135570305 + Missense_Mutation SNP A A G novel TCGA-BG-A2AE-01A-11D-A16D-09 TCGA-BG-A2AE-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 19114129-3279-42b2-b62f-2c419363f70b 97d593f5-7392-4d36-991f-99e3019d8fe8 NM_001727.1 +1 validated p.Q11R 0.976 73 0% 80 26.3% - - benign(0.039) tolerated(0.42) neutral(0.016) NULL