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 CSDE1 7812 genome.wustl.edu 37 1 115277115 115277115 + Missense_Mutation SNP A A C novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001130523.1 -1 validated p.M192R 1.000 104 0% 227 43.6% 75 42.6% possibly_damaging(0.553) tolerated(1) neutral(0.189) NULL CADM3 57863 genome.wustl.edu 37 1 159163349 159163349 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_021189.3 +1 validated p.H207 0.069 99 0% 211 22.3% 0 - - - - HMMSmart_IG,HMMPfam_C2-set_2,superfamily_SSF48726 CTNNB1 1499 genome.wustl.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C A rs121913400 byCluster TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001098209.1 +1 reviewed p.S33Y 1.000 73 0% 60 50% 57 35% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CNTN3 5067 genome.wustl.edu 37 3 74474014 74474014 + Missense_Mutation SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_020872.1 -1 validated p.P146S 1.000 101 0% 177 36.7% 2 100% possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SLC41A3 54946 genome.wustl.edu 37 3 125775246 125775246 + Silent SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001008487.1 -1 validated p.S50 0.003 47 0% 92 40.2% 0 - - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 byCluster TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_006218.2 +1 reviewed p.E545K 1.000 142 0.7% 186 38.2% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold ATP13A4 84239 genome.wustl.edu 37 3 193232504 193232504 + Missense_Mutation SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_032279.2 -1 validated p.V73M 0.331 56 0% 147 41.5% 0 - possibly_damaging(0.935) deleterious(0) deleterious(0.825) NULL KIAA1239 57495 genome.wustl.edu 37 4 37445261 37445261 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001144990.1 +1 validated p.I552fs 1.000 - - - - - - - - - NULL UBA6 55236 genome.wustl.edu 37 4 68488926 68488926 + Missense_Mutation SNP A A C novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_018227.5 -1 validated p.F952C 1.000 136 0% 269 37.9% 6 33.3% benign(0.34) tolerated(0.78) neutral(0.108) HMMPfam_UBA_e1_C METAP1 23173 genome.wustl.edu 37 4 99978957 99978957 + Missense_Mutation SNP A A G novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_015143.2 +1 validated p.M329V 1.000 348 0.3% 1038 41.5% 21 52.3% benign(0.356) deleterious(0) deleterious(0.557) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase MANBA 4126 genome.wustl.edu 37 4 103556160 103556160 + Missense_Mutation SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_005908.3 -1 reviewed p.R734C 0.000 79 0% 69 39.1% 14 57.1% possibly_damaging(0.771) tolerated(0.17) neutral(0.345) NULL ACSL6 23305 genome.wustl.edu 37 5 131321105 131321105 + Missense_Mutation SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001009185.1 -1 validated p.T304M 1.000 94 0% 56 30.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_SSF56801 PCDHA12 56137 genome.wustl.edu 37 5 140256371 140256371 + Silent SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_018903.2 +1 reviewed p.T438 0.000 47 0% 42 33.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140264051 140264051 + Missense_Mutation SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_018904.2 +1 reviewed p.A733V 0.005 30 0% 62 35.5% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL PCDHGB4 8641 genome.wustl.edu 37 5 140768186 140768186 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_003736.2 +1 reviewed p.D245 0.000 44 0% 25 36% 0 - - - - superfamily_Cadherin-like TINAG 27283 genome.wustl.edu 37 6 54173504 54173504 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_014464.3 +1 validated p.F52 0.985 201 0.5% 1237 40.3% 0 - - - - NULL ESR1 2099 genome.wustl.edu 37 6 152382133 152382141 + In_Frame_Del DEL GGAAAATGT GGAAAATGT - novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 GGAAAATGT GGAAAATGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_000125.3 +1 reviewed p.GKC415in_frame_del 1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.998 - - - - - - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain NPC1L1 29881 genome.wustl.edu 37 7 44555772 44555772 + Missense_Mutation SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_013389.2 -1 reviewed p.V1209M 1.000 25 0% 34 14.7% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Patched,superfamily_SSF82866 CALN1 83698 genome.wustl.edu 37 7 71252851 71252851 + Missense_Mutation SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_031468.3 -1 validated p.R232Q 1.000 101 0% 124 37.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SAMD9L 219285 genome.wustl.edu 37 7 92760892 92760892 + Missense_Mutation SNP G G A rs181466556 by1000genomes TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_152703.2 -1 validated p.R1465C 0.000 85 0% 390 36.2% 9 33.3% benign(0.294) tolerated(0.16) neutral(0.150) NULL TMEM55A 55529 genome.wustl.edu 37 8 92030689 92030689 + Missense_Mutation SNP C C A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_018710.2 -1 validated p.A139S 1.000 188 0% 397 34.8% 3 0% possibly_damaging(0.892) tolerated(0.91) neutral(0.351) HMMPfam_Tmemb_55A PKHD1L1 93035 genome.wustl.edu 37 8 110502266 110502266 + Silent SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_177531.4 +1 validated p.T3322 0.972 212 0% 214 38.3% 3 33.3% - - - superfamily_Pectin lyase-like DNAI1 27019 genome.wustl.edu 37 9 34506738 34506738 + Missense_Mutation SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_012144.2 +1 reviewed p.V393M 0.009 23 0% 25 56% 0 - benign(0.001) deleterious(0.04) neutral(0.349) HMMSmart_WD40,superfamily_WD40_like ORM1 5004 genome.wustl.edu 37 9 117085972 117085972 + Silent SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_000607.2 +1 reviewed p.S48 0.000 276 0% 418 32.3% 7 71.4% unknown(0) deleterious(0) - HMMPfam_Lipocalin,superfamily_Calycin PSMD5 5711 genome.wustl.edu 37 9 123586870 123586870 + Missense_Mutation SNP A A T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_005047.2 -1 reviewed p.M303K 1.000 107 0% 158 37.3% 5 20% possibly_damaging(0.757) tolerated(0.24) neutral(0.317) superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB ARHGAP21 57584 genome.wustl.edu 37 10 24908436 24908436 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_020824.3 -1 validated p.P796 0.127 89 0% 176 19.3% 1 0% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692929 89692929 + Missense_Mutation SNP A A G novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 ENST00000371953 +1 known p.Y138C 1.000 207 0% 381 40.9% 18 33.3% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_DSPc,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89720771 89720771 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 ENST00000371953 +1 known p.R308fs 1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PTEN 5728 genome.wustl.edu 37 10 89720852 89720852 + Nonsense_Mutation SNP C C T rs121909231 byCluster TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 ENST00000371953 +1 known p.R335* 1.000 95 0% 252 36.9% 34 41.1% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 OR5P3 120066 genome.wustl.edu 37 11 7846949 7846949 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_153445.1 -1 provisional p.H191fs 0.010 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000181950 0 genome.wustl.edu 37 11 55235084 55235084 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 ENST00000314689 +1 known p.L185 0.004 32 0% 78 33.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC86 79080 genome.wustl.edu 37 11 60610082 60610082 + Missense_Mutation SNP A A C novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_024098.3 +1 validated p.E162A 0.995 13 0% 13 38.5% 9 66.6% probably_damaging(0.959) tolerated(0.1) deleterious(0.689) NULL FAT3 120114 genome.wustl.edu 37 11 92577802 92577802 + Silent SNP T T C novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001008781.2 +1 validated p.L3757 0.966 104 0% 48 43.8% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases LOC643733 643733 genome.wustl.edu 37 11 104778261 104778261 + RNA SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 XR_078449.1 -1 model NULL 0.842 24 0% 70 42.9% 0 - - - - - LRRK2 120892 genome.wustl.edu 37 12 40692960 40692960 + Missense_Mutation SNP A A T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_198578.3 +1 reviewed p.I1133F 0.998 225 0% 310 41.6% 0 - possibly_damaging(0.491) tolerated(0.36) neutral(0.183) HMMPfam_LRR_1,superfamily_SSF52058 RPAP3 79657 genome.wustl.edu 37 12 48090102 48090102 + Missense_Mutation SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_024604.2 -1 reviewed p.V168M 0.951 193 0% 459 48.6% 3 0% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMSmart_SM00028,superfamily_TPR-like USP44 84101 genome.wustl.edu 37 12 95911951 95911951 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001042403.1 -1 validated p.S707fs 0.001 - - - - - - - - - NULL UBE3B 89910 genome.wustl.edu 37 12 109924286 109924286 + Missense_Mutation SNP T T C novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_130466.2 +1 reviewed p.V118A 1.000 222 0.5% 391 40.4% 3 66.6% probably_damaging(0.999) tolerated(0.34) deleterious(0.513) NULL DHX37 57647 genome.wustl.edu 37 12 125434540 125434540 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_032656.2 -1 reviewed p.T1094 0.001 16 0% 10 50% 25 56% - - - NULL IL25 64806 genome.wustl.edu 37 14 23842520 23842520 + Missense_Mutation SNP G G T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_022789.3 +1 reviewed p.A65S 0.000 44 0% 48 43.8% 0 - benign(0) tolerated(0.5) neutral(0.010) HMMPfam_IL17,superfamily_Cystine-knot cytokines ENSG00000174450 0 genome.wustl.edu 37 15 23685006 23685023 + Frame_Shift_Del DEL ATCTCCTCCTGCCCCCAC ATCTCCTCCTGCCCCCAC - novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 ATCTCCTCCTGCCCCCAC ATCTCCTCCTGCCCCCAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 ENST00000312015 -1 known p.E545fs 0.001:0.001:0.001:0.001:0.001 - - - - - - - - - NULL SPATA8 145946 genome.wustl.edu 37 15 97327420 97327420 + Missense_Mutation SNP C C T rs74035978 byCluster;byFrequency;by1000genomes TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_173499.3 +1 provisional p.P43S 0.999 66 0% 44 29.5% 0 - unknown(0) - - NULL FAM65A 79567 genome.wustl.edu 37 16 67573993 67573993 + Missense_Mutation SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_024519.2 +1 validated p.R151H 1.000 45 0% 90 45.6% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTCF 10664 genome.wustl.edu 37 16 67662323 67662323 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_006565.2 +1 reviewed p.Y523* 0.825 92 0% 135 38.5% 11 9% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HGS 9146 genome.wustl.edu 37 17 79655784 79655784 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_004712.3 +1 provisional p.A114 1.000 38 0% 22 36.4% 25 36% - - - HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 TMEM241 85019 genome.wustl.edu 37 18 20964996 20964996 + Silent SNP A A C novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_032933.4 -1 validated p.A105 0.999 148 0% 447 45.2% 0 - - - - superfamily_Multidrug resistance efflux transporter EmrE ZNF556 80032 genome.wustl.edu 37 19 2876166 2876166 + Missense_Mutation SNP A A G novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_024967.1 +1 provisional p.Q69R 0.049 146 0% 114 42.1% 0 - possibly_damaging(0.484) tolerated(0.19) neutral(0.210) NULL MUC16 94025 genome.wustl.edu 37 19 9048229 9048229 + Silent SNP C C A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_024690.2 -1 validated p.G11134 0.001 92 0% 592 24.7% 0 - - - - NULL ZNF470 388566 genome.wustl.edu 37 19 57085955 57085955 + Missense_Mutation SNP T T C novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 ENST00000446235 +1 known p.S85P 0.031 176 0% 220 33.2% 0 - - - - HMMSmart_SM00349 BPIFB4 149954 genome.wustl.edu 37 20 31672739 31672739 + Missense_Mutation SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_182519.2 +1 validated p.R240Q 1.000 42 0% 60 43.3% 0 - possibly_damaging(0.704) tolerated(0.23) neutral(0.295) HMMPfam_LBP_BPI_CETP,HMMSmart_SM00328,superfamily_Bactericidal permeability-increasing protein BPI POLA1 5422 genome.wustl.edu 37 X 24745999 24745999 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_016937.3 +1 reviewed p.V538 1.000 189 0% 452 40.3% 1 0% - - - HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold POLA1 5422 genome.wustl.edu 37 X 25014019 25014019 + Silent SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_016937.3 +1 reviewed p.S1447 0.006 133 0% 144 38.2% 8 0% - - - HMMPfam_zf-DNA_Pol FAM133A 286499 genome.wustl.edu 37 X 92964855 92964855 + Missense_Mutation SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_173698.2 +1 validated p.T146M 0.103 65 0% 198 35.9% 0 - unknown(0) tolerated(0.32) - NULL BHLHB9 80823 genome.wustl.edu 37 X 102005024 102005024 + Silent SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001142524.1 +1 validated p.V367 1.000 112 0% 185 36.8% 0 - - - - HMMPfam_DUF634,superfamily_ARM-type_fold NRK 203447 genome.wustl.edu 37 X 105189996 105189996 + Missense_Mutation SNP C C A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_198465.2 +1 validated p.L1398M 1.000 136 0% 223 42.6% 0 - probably_damaging(0.996) tolerated(1) neutral(0.462) HMMPfam_CNH,HMMSmart_SM00036 GPR101 83550 genome.wustl.edu 37 X 136112567 136112567 + Missense_Mutation SNP C C T novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_054021.1 -1 validated p.V423M 0.005 104 0% 149 35.6% 0 - benign(0.286) deleterious(0) deleterious(0.532) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MECP2 4204 genome.wustl.edu 37 X 153297785 153297785 + Missense_Mutation SNP G G A novel TCGA-B5-A0K7-01A-11W-A10C-09 TCGA-B5-A0K7-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 50ffa409-0b1a-4c87-9c17-e544e24e2a37 080e4214-208c-46da-b7e3-8a2c5758b5d0 NM_001110792.1 -1 reviewed p.R96W 1.000 82 0% 41 36.6% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_DNA-binding_integrase-type