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 PEX19 5824 genome.wustl.edu 37 1 160249891 160249891 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_002857.3 -1 reviewed p.R247H 1.000 205 0% 210 46.2% 64 45.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pex19 SLC9A11 284525 genome.wustl.edu 37 1 173476163 173476165 + In_Frame_Del DEL GTT GTT - novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_178527.3 -1 validated p.N1019in_frame_del 0.972:0.975:0.995 - - - - - - - - - NULL SLC9A11 284525 genome.wustl.edu 37 1 173476167 173476168 + Frame_Shift_Del DEL TG TG - novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_178527.3 -1 validated p.Q1018fs 0.999:0.998 - - - - - - - - - NULL SLC9A11 284525 genome.wustl.edu 37 1 173476170 173476179 + Frame_Shift_Del DEL AACCTTAAGT AACCTTAAGT - novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 AACCTTAAGT AACCTTAAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_178527.3 -1 validated p.D1014fs 0.979:0.948:0.000:0.000:0.008:0.047:0.240:0.242:0.604:0.954 - - - - - - - - - NULL EGLN1 54583 genome.wustl.edu 37 1 231557050 231557050 + Silent SNP G G C novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_022051.2 -1 reviewed p.L195 1.000 12 0% 15 46.7% 39 48.7% - - - NULL NYAP2 57624 genome.wustl.edu 37 2 226446763 226446763 + Silent SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_020864.1 +1 validated p.T210 0.013 71 0% 66 50% 1 0% - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_006218.2 +1 reviewed p.Q546R 1.000 240 0% 2043 93.7% 116 96.5% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold C4orf29 80167 genome.wustl.edu 37 4 128905565 128905565 + Missense_Mutation SNP T T C novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001039717.1 +1 predicted p.V55A 0.996 338 0% 269 44.2% 7 42.8% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_DUF2048 LIFR 3977 genome.wustl.edu 37 5 38490321 38490321 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001127671.1 -1 reviewed p.R713H 0.520 413 0% 336 32.1% 1 0% probably_damaging(0.994) deleterious(0.05) deleterious(0.797) superfamily_Fibronectin type III PAPD4 167153 genome.wustl.edu 37 5 78936988 78936988 + Missense_Mutation SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001114393.1 +1 validated p.G214D 1.000 557 0% 339 33% 20 30% possibly_damaging(0.811) deleterious(0.03) deleterious(0.670) superfamily_Nucleotidyltransferase NRG2 9542 genome.wustl.edu 37 5 139422000 139422000 + Missense_Mutation SNP T T G novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_013982.2 -1 reviewed p.K219Q 1.000 35 0% 27 37% 0 - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) NULL PCDHA8 56140 genome.wustl.edu 37 5 140221077 140221077 + Silent SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_018911.2 +1 reviewed p.A57 0.000 47 0% 40 20% 1 0% - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like DUSP22 56940 genome.wustl.edu 37 6 335112 335112 + Splice_Site SNP A A T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_020185.3 +1 provisional e4-2 1.000 325 0% 289 17.3% 0 - - - - - HSP90AB1 3326 genome.wustl.edu 37 6 44217197 44217197 + Silent SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_007355.2 +1 provisional p.P77 0.997 223 0% 194 21.1% 1550 21.8% - - - HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase ZC3H12D 340152 genome.wustl.edu 37 6 149777866 149777866 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_207360.2 -1 validated p.E206K 1.000 38 0% 39 35.9% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MLLT4 4301 genome.wustl.edu 37 6 168352414 168352414 + Silent SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001040001.1 +1 validated p.P1452 0.000 84 0% 65 47.7% 70 45.7% - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48567847 48567847 + Missense_Mutation SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_152701.3 +1 reviewed p.G4754R 0.916 596 0% 386 42.5% 0 - probably_damaging(0.999) - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ARPC1B 10095 genome.wustl.edu 37 7 98985750 98985750 + Missense_Mutation SNP G G T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_005720.2 +1 reviewed p.W86C 1.000 44 0% 45 80% 195 71.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like MET 4233 genome.wustl.edu 37 7 116339642 116339642 + Missense_Mutation SNP G G T rs55985569 byCluster;byFrequency;by1000genomes TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001127500.1 +1 reviewed p.E168D 0.940 126 48.4% 63 87.3% 27 100% benign(0.005) tolerated(0.08) neutral(0.300) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema WDFY4 57705 genome.wustl.edu 37 10 50025347 50025347 + Missense_Mutation SNP C C A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_020945.1 +1 validated p.Q1800K 1.000 25 0% 54 25.9% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) NULL CCDC6 8030 genome.wustl.edu 37 10 61612347 61612349 + In_Frame_Del DEL TTC TTC - novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_005436.3 -1 validated p.E139in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_DUF2046 RTN4RL2 349667 genome.wustl.edu 37 11 57244296 57244296 + Missense_Mutation SNP C C T rs141304388 by1000genomes TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_178570.1 +1 provisional p.A392V 0.135 1 0.000 6 1.000 2 50% possibly_damaging(0.631) deleterious(0.01) deleterious(0.626) NULL SPTBN2 6712 genome.wustl.edu 37 11 66468011 66468011 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_006946.2 -1 reviewed p.V1187M 0.988 19 0% 29 20.7% 23 17.3% benign(0.023) tolerated(0.27) neutral(0.035) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat NOP2 4839 genome.wustl.edu 37 12 6669954 6669954 + Splice_Site SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001033714.1 -1 validated e12-1 1.000 123 0% 129 24% 0 - - - - - CREBL2 1389 genome.wustl.edu 37 12 12788836 12788836 + Missense_Mutation SNP A A T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001310.2 +1 reviewed p.R47S 0.919 113 0% 74 32.4% 12 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_bZIP_2 ASUN 55726 genome.wustl.edu 37 12 27081820 27081820 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_018164.2 -1 validated p.A107T 1.000 78 0% 73 32.9% 10 10% benign(0.013) tolerated(0.5) neutral(0.011) HMMPfam_DUF2151 C12orf35 55196 genome.wustl.edu 37 12 32135984 32135984 + Missense_Mutation SNP A A G novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_018169.3 +1 validated p.N699D 0.000 163 0% 106 54.7% 84 55.9% probably_damaging(0.992) tolerated(0.1) deleterious(0.734) NULL ARID2 196528 genome.wustl.edu 37 12 46243917 46243917 + Missense_Mutation SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_152641.2 +1 validated p.V671I 1.000 277 0% 179 13.4% 13 15.3% benign(0) tolerated(0.47) neutral(0.011) NULL LOC121456 121456 genome.wustl.edu 37 12 98848854 98848854 + RNA SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a XR_016411.2 -1 model NULL 0.997 114 0% 70 21.4% 1 100% - - - - RPH3A 22895 genome.wustl.edu 37 12 113321135 113321135 + Missense_Mutation SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001143854.1 +1 validated p.R455Q 0.997 125 0% 112 51.8% 0 - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SETD1B 23067 genome.wustl.edu 37 12 122268031 122268032 + Frame_Shift_Ins INS - - A rs188677827 by1000genomes TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_015048.1 +1 validated p.Q1887fs 1.000:1.000 - - - - - - - - - HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 BIVM 54841 genome.wustl.edu 37 13 103474424 103474428 + Frame_Shift_Del DEL ACAAA ACAAA - novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 ACAAA ACAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_017693.3 +1 validated p.R272fs 1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL BIVM 54841 genome.wustl.edu 37 13 103474430 103474431 + Frame_Shift_Del DEL TA TA - novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_017693.3 +1 validated p.N275fs 1.000:1.000 - - - - - - - - - NULL MGA 23269 genome.wustl.edu 37 15 42052602 42052602 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001080541.2 +1 validated p.R2474C 1.000 268 0% 244 45.9% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain RASL12 51285 genome.wustl.edu 37 15 65350833 65350833 + Silent SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_016563.2 -1 validated p.H119 0.008 25 0% 49 24.5% 4 0% - - - HMMPfam_Ras,superfamily_SSF52540 PRC1 9055 genome.wustl.edu 37 15 91517381 91517381 + Silent SNP C C G rs77938393 byFrequency;by1000genomes TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_003981.2 -1 reviewed p.P482 0.011 326 0% 355 19.2% 80 20% - - - HMMPfam_MAP65_ASE1 RHBDF1 64285 genome.wustl.edu 37 16 114700 114700 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_022450.3 -1 validated p.R82H 1.000 147 0.7% 219 70.8% 52 80.7% possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL TMEM8A 58986 genome.wustl.edu 37 16 424867 424867 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_021259.2 -1 validated p.V489M 0.215 47 0% 76 15.8% 353 15.2% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL LOC100289262 100289262 genome.wustl.edu 37 16 67289795 67289795 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a XM_002344111.1 -1 model p.V81I 1.000 40 0% 74 18.9% 0 - - - - NULL TP53 7157 genome.wustl.edu 37 17 7577097 7577097 + Missense_Mutation SNP C C A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_000546.4 -1 reviewed p.D281Y 1.000 205 0% 195 86.7% 204 98% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 PLCD3 113026 genome.wustl.edu 37 17 43190339 43190339 + Missense_Mutation SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a ENST00000322765 -1 known p.R724W 1.000 74 0% 112 69.6% 20 65% benign(0.019) tolerated(0.17) neutral(0.060) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) NFE2L1 4779 genome.wustl.edu 37 17 46128553 46128553 + Missense_Mutation SNP C C T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_003204.2 +1 validated p.R25W 1.000 111 0% 126 31% 117 25.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIM25 7706 genome.wustl.edu 37 17 54991092 54991092 + Silent SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_005082.4 -1 reviewed p.P86 0.000 2 0.000 18 1.000 9 100% - - - NULL PIK3R2 5296 genome.wustl.edu 37 19 18277996 18277996 + Missense_Mutation SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_005027.2 +1 validated p.R539H 1.000 45 0% 61 29.5% 56 23.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PPP2R1A 5518 genome.wustl.edu 37 19 52716214 52716214 + Missense_Mutation SNP G G A novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_014225.5 +1 reviewed p.V220M 1.000 48 0% 73 28.8% 589 39% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat RAE1 8480 genome.wustl.edu 37 20 55929873 55929873 + Splice_Site SNP G G T novel TCGA-D1-A15V-01A-11D-A122-09 TCGA-D1-A15V-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3543ed42-dce7-43ae-8171-5fdacc8e2f27 0301481b-5d30-4a02-a94b-51887ff7fb2a NM_001015885.1 +1 reviewed e2+1 1.000 311 0% 291 24.1% 0 - - - - -