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 HMGCL 3155 genome.wustl.edu 37 1 24130916 24130923 + Frame_Shift_Del DEL TGTAGACC TGTAGACC - novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 TGTAGACC TGTAGACC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_000191.2 -1 reviewed p.V282fs 1.000:1.000:1.000:1.000:0.972:0.985:0.804:0.084 - - - - - - - - - HMMPfam_HMGL-like,superfamily_Aldolase RBM15 64783 genome.wustl.edu 37 1 110883213 110883213 + Missense_Mutation SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_022768.4 +1 validated p.R396C 1.000 53 0% 58 34.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD DENND4B 9909 genome.wustl.edu 37 1 153914376 153914376 + Missense_Mutation SNP C C G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_014856.2 -1 validated p.V342L 0.999 13 0% 35 54.3% 13 38.4% possibly_damaging(0.734) tolerated(0.35) neutral(0.289) HMMPfam_DENN,HMMSmart_DENN PLA2G4A 5321 genome.wustl.edu 37 1 186957571 186957571 + Silent SNP T T C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_024420.2 +1 reviewed p.S727 0.859 293 0% 252 11.9% 1 0% - - - NULL CRB1 23418 genome.wustl.edu 37 1 197297979 197297979 + Silent SNP A A T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_201253.1 +1 reviewed p.G166 0.000 67 0% 61 16.4% 0 - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin USH2A 7399 genome.wustl.edu 37 1 215848334 215848334 + Missense_Mutation SNP A A G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_206933.2 -1 reviewed p.Y4307H 0.039 362 0% 345 12.8% 0 - probably_damaging(0.968) tolerated(0.53) neutral(0.417) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MGAT4A 11320 genome.wustl.edu 37 2 99274717 99274717 + Missense_Mutation SNP T T A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_012214.2 -1 reviewed p.D183V 1.000 213 0% 230 31.7% 2 100% benign(0.408) deleterious(0.02) deleterious(0.515) HMMPfam_Glyco_transf_54 AFF3 3899 genome.wustl.edu 37 2 100623840 100623840 + Missense_Mutation SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_001025108.1 -1 reviewed p.R111K 0.919 154 0% 149 21.5% 0 - probably_damaging(0.987) tolerated(0.25) deleterious(0.473) HMMPfam_AF-4 IMP4 92856 genome.wustl.edu 37 2 131102208 131102208 + Missense_Mutation SNP G G T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_033416.1 +1 provisional p.R40L 0.956 76 0% 109 20.2% 38 36.8% benign(0.026) deleterious(0.01) neutral(0.407) NULL TTC21B 79809 genome.wustl.edu 37 2 166773889 166773889 + Missense_Mutation SNP G G T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_024753.3 -1 validated p.P593T 1.000 262 0% 356 19.7% 4 25% benign(0.103) tolerated(1) neutral(0.008) HMMSmart_SM00028,superfamily_TPR-like TTN 7273 genome.wustl.edu 37 2 179466476 179466476 + Silent SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 ENST00000356127 -1 known p.P15879 0.992 223 0% 333 25.8% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set DNAH7 56171 genome.wustl.edu 37 2 196602769 196602769 + Missense_Mutation SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_018897.2 -1 validated p.R3984K 0.996 95 0% 118 19.5% 5 40% benign(0.067) tolerated(0.28) neutral(0.036) HMMPfam_Dynein_heavy RAPH1 65059 genome.wustl.edu 37 2 204304620 204304620 + Missense_Mutation SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_213589.1 -1 validated p.S1098F 0.946 33 0% 18 33.3% 0 - benign(0.113) deleterious(0.01) neutral(0.415) NULL ADAM23 8745 genome.wustl.edu 37 2 207431960 207431960 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_003812.2 +1 reviewed p.R470* 0.912 139 0% 140 86.4% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" IQSEC1 9922 genome.wustl.edu 37 3 12977494 12977494 + Missense_Mutation SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_014869.4 -1 validated p.T355M 0.998 12 0.000 7 1.000 3 66.6% possibly_damaging(0.458) deleterious(0) deleterious(0.595) NULL ATP13A5 344905 genome.wustl.edu 37 3 193019039 193019039 + Silent SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_198505.2 -1 provisional p.Y912 0.019 248 0% 306 48.4% 0 - - - - superfamily_SSF81665 ENSG00000163959 0 genome.wustl.edu 37 3 195955755 195955755 + Silent SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 ENST00000428985 +1 known p.C212Y 1.000 87 0% 217 18.9% 0 - - - - NULL FGA 2243 genome.wustl.edu 37 4 155508012 155508012 + Missense_Mutation SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_000508.3 -1 reviewed p.R190H 0.004 160 0% 101 39.6% 0 - probably_damaging(0.999) tolerated(0.3) deleterious(0.519) HMMPfam_Fib_alpha NAF1 92345 genome.wustl.edu 37 4 164069551 164069551 + Silent SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_138386.2 -1 validated p.L192 0.998 380 0% 263 31.9% 2 50% - - - HMMPfam_NAF1 TRIO 7204 genome.wustl.edu 37 5 14387886 14387886 + Missense_Mutation SNP T T G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_007118.2 +1 validated p.S1271A 1.000 101 0% 157 22.9% 3 0% unknown(0) tolerated(0.8) - NULL MAN2A1 4124 genome.wustl.edu 37 5 109103384 109103384 + Silent SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_002372.2 +1 reviewed p.L328 1.000 282 0% 190 36.8% 0 - - - - HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl ADAMTS19 171019 genome.wustl.edu 37 5 128797315 128797316 + In_Frame_Ins INS - - CCCGGC novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_133638.3 +1 reviewed p.202in_frame_insPG 0.000:0.016 - - - - - - - - - NULL EBF1 1879 genome.wustl.edu 37 5 158140132 158140132 + Silent SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_024007.3 -1 validated p.A405 0.344 115 0% 83 77.1% 1 100% - - - NULL HIST1H1E 3008 genome.wustl.edu 37 6 26156904 26156904 + Missense_Mutation SNP A A T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_005321.2 +1 reviewed p.T96S 1.000 31 0% 40 25% 2 50% benign(0.39) deleterious(0.02) deleterious(0.508) "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" PPP1R3A 5506 genome.wustl.edu 37 7 113518859 113518859 + Missense_Mutation SNP T T C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_002711.3 -1 reviewed p.D763G 1.000 429 0% 234 11.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTAGE6P 340307 genome.wustl.edu 37 7 143453990 143453990 + Silent SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_178561.4 -1 validated p.H254 0.091 495 0.2% 404 24% 0 - - - - NULL SNTG1 54212 genome.wustl.edu 37 8 51617182 51617182 + Missense_Mutation SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_018967.2 +1 reviewed p.R354Q 1.000 117 0% 100 25% 0 - possibly_damaging(0.76) deleterious(0.02) deleterious(0.664) HMMSmart_SM00233,superfamily_PH domain-like SHB 6461 genome.wustl.edu 37 9 37974665 37974665 + Nonsense_Mutation SNP G G T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_003028.2 -1 validated p.Y336* 1.000 49 0% 46 32.6% 19 0% - - - NULL RORB 6096 genome.wustl.edu 37 9 77280404 77280404 + Missense_Mutation SNP G G C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_006914.3 +1 reviewed p.G298A 1.000 163 0% 111 40.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain AK1 203 genome.wustl.edu 37 9 130634103 130634103 + Missense_Mutation SNP C C G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_000476.2 -1 reviewed p.R108P 1.000 32 0% 53 24.5% 97 30.9% benign(0.276) tolerated(0.11) neutral(0.301) HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000189332 0 genome.wustl.edu 37 11 18231374 18231374 + Missense_Mutation SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 ENST00000340135 +1 known p.A54T 0.828 88 0% 62 32.3% 0 - benign(0.005) tolerated(0.39) neutral(0.016) superfamily_Mitochondrial carrier ACCSL 390110 genome.wustl.edu 37 11 44074971 44074971 + Missense_Mutation SNP G G T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_001031854.2 +1 validated p.G322C 0.998 115 0% 106 27.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases DYRK4 8798 genome.wustl.edu 37 12 4705861 4705861 + Missense_Mutation SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_003845.1 +1 provisional p.R176C 1.000 108 0% 116 24.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KIAA0528 9847 genome.wustl.edu 37 12 22678564 22678564 + Missense_Mutation SNP C C A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_014802.1 -1 predicted p.C142F 1.000 353 0% 302 39.1% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC5A8 160728 genome.wustl.edu 37 12 101581287 101581287 + Silent SNP G G C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_145913.3 -1 validated p.L280 0.987 183 0% 160 51.2% 0 - - - - NULL STAB2 55576 genome.wustl.edu 37 12 104147024 104147024 + Missense_Mutation SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_017564.9 +1 reviewed p.R2203C 1.000 50 0% 73 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xlink,HMMSmart_LINK,superfamily_C-type_lectin_fold MTRF1 9617 genome.wustl.edu 37 13 41797412 41797412 + Missense_Mutation SNP A A G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_004294.2 -1 reviewed p.Y402H 1.000 531 0% 610 28.9% 5 60% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF75620 HOMEZ 57594 genome.wustl.edu 37 14 23744801 23744803 + In_Frame_Del DEL CAT CAT - rs148005528 byCluster;by1000genomes TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_020834.2 -1 validated p.D545in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL KIAA0247 9766 genome.wustl.edu 37 14 70170172 70170172 + Missense_Mutation SNP G G C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_014734.3 +1 validated p.R61T 0.996 110 0% 82 35.4% 1 0% benign(0.009) tolerated(0.09) neutral(0.297) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module HERC2 8924 genome.wustl.edu 37 15 28377309 28377309 + Nonsense_Mutation SNP C C T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_004667.4 -1 reviewed p.W4169* 1.000 18 0% 24 33.3% 4 25% - - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II SCG5 6447 genome.wustl.edu 37 15 32983992 32983992 + Missense_Mutation SNP G G C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 ENST00000471027 +1 known p.G181R 0.000 23 0% 21 42.9% 0 - unknown(0) - - HMMPfam_Secretogranin_V TP53 7157 genome.wustl.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G G - novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_000546.4 -1 reviewed p.C242fs 1.000 - - - - - - - - - PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 LSMD1 84316 genome.wustl.edu 37 17 7760710 7760710 + Missense_Mutation SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_032356.3 -1 provisional p.P11L 1.000 14 0% 21 42.9% 190 43.6% possibly_damaging(0.877) deleterious(0) deleterious(0.786) NULL KCTD1 284252 genome.wustl.edu 37 18 24039616 24039616 + Missense_Mutation SNP G G C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_001142730.1 -1 validated p.L803V 1.000 79 0% 54 40.7% 291 49.1% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL MUC16 94025 genome.wustl.edu 37 19 9063731 9063731 + Missense_Mutation SNP C C A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_024690.2 -1 validated p.M7905I 0.000 149 0% 289 19.7% 0 - unknown(0) - - NULL PRKACA 5566 genome.wustl.edu 37 19 14213659 14213659 + Missense_Mutation SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_002730.3 -1 reviewed p.P102L 1.000 37 0% 57 14% 66 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAST3 23031 genome.wustl.edu 37 19 18255431 18255431 + Missense_Mutation SNP A A G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_015016.1 +1 validated p.S885G 0.026 10 0% 16 31.2% 3 33.3% benign(0.025) tolerated(0.11) neutral(0.273) NULL NPHS1 4868 genome.wustl.edu 37 19 36341876 36341876 + Silent SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_004646.3 -1 reviewed p.I171 1.000 33 0% 43 32.6% 3 0% - - - HMMPfam_C2-set_2,superfamily_Immunoglobulin PSG1 5669 genome.wustl.edu 37 19 43382140 43382140 + Missense_Mutation SNP A A G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_006905.2 -1 validated p.S119P 0.000 1169 0% 896 37.8% 0 - benign(0.003) tolerated(0.14) neutral(0.249) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CSRP2BP 57325 genome.wustl.edu 37 20 18142514 18142514 + Missense_Mutation SNP A A G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_020536.4 +1 reviewed p.K245E 1.000 241 0% 303 23.4% 3 66.6% probably_damaging(0.959) tolerated(0.05) deleterious(0.748) NULL SYCP2 10388 genome.wustl.edu 37 20 58490584 58490584 + Missense_Mutation SNP T T C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_014258.2 -1 reviewed p.M179V 0.990 150 0% 159 24.5% 1 100% benign(0.169) deleterious(0.02) neutral(0.399) NULL EWSR1 2130 genome.wustl.edu 37 22 29694813 29694813 + Missense_Mutation SNP G G A novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_005243.3 +1 reviewed p.R503Q 0.987 57 0% 62 37.1% 140 47.8% unknown(0) tolerated(0.14) - NULL SF3A1 10291 genome.wustl.edu 37 22 30742368 30742368 + Missense_Mutation SNP G G C novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_005877.4 -1 reviewed p.P109R 1.000 70 0% 68 58.8% 32 46.8% benign(0.167) - - superfamily_SSF109905 WWC3 55841 genome.wustl.edu 37 X 10035295 10035295 + Missense_Mutation SNP G G T novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 ENST00000398613 +1 known p.S2I 0.041 106 0% 69 36.2% 0 - benign(0.121) deleterious(0) neutral(0.454) NULL TMEM31 203562 genome.wustl.edu 37 X 102967277 102967277 + Missense_Mutation SNP C C G novel TCGA-AX-A0IW-01A-11W-A062-09 TCGA-AX-A0IW-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6dac4f71-6bdd-49f0-8f0e-d23bb784d4c9 40e0c893-d12d-46f0-b432-583464ee85e8 NM_182541.2 +1 validated p.Q31E 0.042 353 0% 228 28.9% 1 0% benign(0.015) - - NULL