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 HNRNPR 10236 genome.wustl.edu 37 1 23640197 23640197 + Splice_Site SNP T T C novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_001102398.1 -1 reviewed e8-2 1.000 127 0% 29 31% 0 - - - - - MACF1 23499 genome.wustl.edu 37 1 39826512 39826512 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_033044.2 +1 reviewed p.R2538* 1.000 90 0% 13 30.8% 0 - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin ATF6 22926 genome.wustl.edu 37 1 161928344 161928344 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_007348.2 +1 validated p.R638fs 1.000 - - - - - - - - - NULL TSNAX 7257 genome.wustl.edu 37 1 231696950 231696950 + Silent SNP T T A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_005999.2 +1 reviewed p.I148 1.000 311 0% 39 28.2% 15 20% - - - HMMPfam_Translin,superfamily_Translin HNRNPU 3192 genome.wustl.edu 37 1 245023703 245023703 + Silent SNP A A T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_031844.2 -1 reviewed p.A317 0.982 276 0% 282 35.1% 237 32.4% - - - NULL SPEG 10290 genome.wustl.edu 37 2 220353828 220353828 + Silent SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_005876.4 +1 validated p.N2734 0.694 11 0% 56 32.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CACNA1D 776 genome.wustl.edu 37 3 53752758 53752758 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_000720.2 +1 validated p.R510W 1.000 26 0% 66 37.9% 0 - possibly_damaging(0.905) deleterious(0.02) deleterious(0.742) superfamily_SSF81324 SLITRK3 22865 genome.wustl.edu 37 3 164906467 164906467 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_014926.2 -1 validated p.G718R 0.596 54 0% 15 33.3% 0 - possibly_damaging(0.485) tolerated(0.09) neutral(0.458) NULL ZBBX 79740 genome.wustl.edu 37 3 167000093 167000093 + Missense_Mutation SNP A A T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_024687.2 -1 validated p.D690E 0.001 427 0% 64 39.1% 5 0% benign(0.001) tolerated(0.35) neutral(0.021) NULL ACOX3 8310 genome.wustl.edu 37 4 8368786 8368786 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_003501.2 -1 validated p.A669T 0.000 60 0% 56 41.1% 30 26.6% benign(0.003) tolerated(0.78) neutral(0.001) HMMPfam_ACOX,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like TARS 6897 genome.wustl.edu 37 5 33453447 33453447 + Missense_Mutation SNP A A G novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_152295.3 +1 reviewed p.D128G 1.000 97 0% 49 36.7% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGS,superfamily_TGS-like PIK3R1 5295 genome.wustl.edu 37 5 67591136 67591141 + In_Frame_Del DEL AGAGAC AGAGAC - novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 AGAGAC AGAGAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_181523.1 +1 reviewed p.RD577in_frame_del 0.975:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL PCDHA7 56141 genome.wustl.edu 37 5 140215138 140215138 + Silent SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_018910.2 +1 reviewed p.T390 0.000 49 0% 74 44.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FGFR4 2264 genome.wustl.edu 37 5 176517988 176517988 + Silent SNP A A G novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_002011.3 +1 reviewed p.V162 0.995 112 0% 67 50.7% 9 77.7% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ZFP2 80108 genome.wustl.edu 37 5 178359647 178359647 + Missense_Mutation SNP A A G novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_030613.2 +1 provisional p.K445E 1.000 190 0% 50 36% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CD83 9308 genome.wustl.edu 37 6 14135349 14135349 + Missense_Mutation SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_004233.3 +1 validated p.R167Q 0.722 127 0% 42 40.5% 16 56.2% benign(0.29) tolerated(0.38) neutral(0.107) NULL TFAP2B 7021 genome.wustl.edu 37 6 50807914 50807914 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_003221.3 +1 reviewed p.T329M 1.000 113 0% 108 50.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TF_AP-2 FRK 2444 genome.wustl.edu 37 6 116264288 116264288 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_002031.2 -1 reviewed p.A401T 1.000 273 0% 65 40% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like COL28A1 340267 genome.wustl.edu 37 7 7472129 7472129 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_001037763.2 -1 validated p.R658H 0.989 243 0.4% 28 35.7% 2 100% benign(0.004) tolerated(0.11) neutral(0.272) NULL PXDNL 137902 genome.wustl.edu 37 8 52339270 52339270 + Missense_Mutation SNP C C A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_144651.4 -1 validated p.G525V 0.964 600 0% 72 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PDP1 54704 genome.wustl.edu 37 8 94935750 94935750 + Missense_Mutation SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_018444.3 +1 reviewed p.G488D 1.000 72 0% 70 35.7% 18 77.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain TRPM6 140803 genome.wustl.edu 37 9 77457246 77457246 + Missense_Mutation SNP G G C rs121912624 TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_017662.4 -1 reviewed p.R56G 0.975 357 0% 103 34% 0 - unknown(0) deleterious(0.04) - NULL ZNF618 114991 genome.wustl.edu 37 9 116811597 116811597 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_133374.2 +1 validated p.A579V 1.000 10 0.000 9 0.778 9 55.5% probably_damaging(0.978) tolerated(0.55) neutral(0.427) NULL COL27A1 85301 genome.wustl.edu 37 9 117047052 117047052 + Missense_Mutation SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_032888.2 +1 validated p.E1328K 0.998 32 0% 52 38.5% 13 30.7% unknown(0) tolerated(0.73) - NULL CARD9 64170 genome.wustl.edu 37 9 139261276 139261276 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_052813.4 -1 reviewed p.E445K 1.000 6 0.000 70 0.414 5 40% possibly_damaging(0.946) tolerated(0.09) deleterious(0.686) NULL GPR158 57512 genome.wustl.edu 37 10 25886793 25886793 + Silent SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_020752.2 +1 validated p.S746 0.009 80 1.3% 48 25% 0 - - - - NULL CDHR1 92211 genome.wustl.edu 37 10 85974275 85974275 + Silent SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_033100.2 +1 reviewed p.P826 0.000 37 0% 50 16% 1 100% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692798 89692798 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 ENST00000371953 +1 known p.P95fs 1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89712001 89712001 + Frame_Shift_Del DEL A A - novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 ENST00000371953 +1 known p.S207fs 1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 FGFR2 2263 genome.wustl.edu 37 10 123247516 123247516 + Missense_Mutation SNP T T C novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_022970.3 -1 reviewed p.K660E 1.000 458 0% 101 17.8% 68 26.4% probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FGFR2 2263 genome.wustl.edu 37 10 123258070 123258070 + Missense_Mutation SNP C C A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_022970.3 -1 reviewed p.M538I 1.000 247 0% 89 22.5% 88 27.2% possibly_damaging(0.784) deleterious(0.01) deleterious(0.699) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like OR8I2 120586 genome.wustl.edu 37 11 55861593 55861593 + Silent SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_001003750.1 +1 provisional p.A270 0.001 76 0% 22 31.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC728196 728196 genome.wustl.edu 37 11 111383756 111383756 + RNA SNP G G A rs72550778 byFrequency;by1000genomes TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 XR_040780.2 +1 model NULL 0.514 7 0.000 32 0.406 0 - - - - - SIK3 23387 genome.wustl.edu 37 11 116729044 116729044 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_025164.3 -1 validated p.R940K 1.000 62 0% 33 45.5% 11 54.5% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL LEPREL2 10536 genome.wustl.edu 37 12 6938023 6938024 + Frame_Shift_Ins INS - - G rs112583020 byCluster;by1000genomes TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 ENST00000290510 +1 known p.R141fs 1.000:1.000 - - - - - - - - - NULL MLL2 8085 genome.wustl.edu 37 12 49440427 49440427 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_003482.3 -1 validated p.L1462fs 1.000 - - - - - - - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD APAF1 317 genome.wustl.edu 37 12 99053093 99053093 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_181861.1 +1 reviewed p.R228C 1.000 123 0% 99 35.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NB-ARC,superfamily_WD40 repeat-like,superfamily_P-loop containing nucleoside triphosphate hydrolases USP12 219333 genome.wustl.edu 37 13 27669856 27669856 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_182488.2 -1 provisional p.R152H 1.000 535 0% 76 42.1% 4 50% benign(0.158) tolerated(0.06) neutral(0.337) HMMPfam_UCH,superfamily_SSF54001 HSP90AA1 3320 genome.wustl.edu 37 14 102550273 102550273 + Missense_Mutation SNP A A T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_001017963.2 -1 validated p.S521T 1.000 218 0% 145 37.2% 412 41% possibly_damaging(0.83) deleterious(0) deleterious(0.760) superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_HSP90 FAM189A1 23359 genome.wustl.edu 37 15 29415617 29415617 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_015307.1 -1 validated p.M515I 0.106 9 0.000 62 0.403 0 - benign(0) tolerated(1) - NULL TNFRSF13B 23495 genome.wustl.edu 37 17 16843751 16843751 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_012452.2 -1 reviewed p.V174I 0.908 10 0% 26 50% 0 - benign(0) tolerated(1) - NULL CDC27 996 genome.wustl.edu 37 17 45219311 45219311 + Missense_Mutation SNP T T C novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_001114091.1 -1 reviewed p.I493V 1.000 106 2.8% 61 24.6% 5 0% benign(0.002) tolerated(0.86) neutral(0.001) superfamily_TPR-like ONECUT2 9480 genome.wustl.edu 37 18 55143729 55143729 + Missense_Mutation SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_004852.2 +1 reviewed p.R430H 1.000 46 2.2% 11 45.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ZNF554 115196 genome.wustl.edu 37 19 2827635 2827635 + Silent SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_001102651.1 +1 validated p.D49 0.985 103 0% 74 27% 3 66.6% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box FBN3 84467 genome.wustl.edu 37 19 8181660 8181660 + Missense_Mutation SNP G G T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_032447.3 -1 reviewed p.P1204T 1.000 42 0% 29 27.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin PRKCSH 5589 genome.wustl.edu 37 19 11558340 11558341 + In_Frame_Ins INS - - GAG novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_002743.2 +1 reviewed p.316in_frame_insE 0.001:0.997 - - - - - - - - - NULL ELAVL3 1995 genome.wustl.edu 37 19 11569297 11569297 + Missense_Mutation SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_001420.3 -1 reviewed p.R155C 1.000 36 0% 58 15.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF566 84924 genome.wustl.edu 37 19 36940118 36940118 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_001145343.1 -1 validated p.E341K 0.866 286 0% 36 41.7% 2 50% probably_damaging(0.995) tolerated(0.18) deleterious(0.514) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF551 90233 genome.wustl.edu 37 19 58199629 58199629 + Silent SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_138347.3 +1 validated p.R646 0.000 234 0% 38 44.7% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TPTE 7179 genome.wustl.edu 37 21 10914442 10914442 + Missense_Mutation SNP C C T novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_199261.2 -1 validated p.R426H 0.329 1070 0% 69 17.4% 0 - possibly_damaging(0.82) tolerated(0.2) neutral(0.359) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TTC38 55020 genome.wustl.edu 37 22 46677541 46677541 + Missense_Mutation SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_017931.2 +1 validated p.A221T 0.998 47 0% 71 40.8% 16 31.2% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF48452 IRS4 8471 genome.wustl.edu 37 X 107975876 107975876 + Silent SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_003604.2 -1 reviewed p.N1233 0.000 75 1.3% 78 48.7% 0 - - - - NULL L1CAM 3897 genome.wustl.edu 37 X 153135017 153135017 + Missense_Mutation SNP G G A novel TCGA-BG-A0MS-01A-11D-A10B-09 TCGA-BG-A0MS-10A-02W-A10C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c4a98db3-22d2-49e4-a9dd-d0453eb28264 497b55f1-5c07-4d43-8620-d353e9853b50 NM_000425.3 -1 reviewed p.R409W 1.000 18 0% 49 49% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin