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 ACTRT2 140625 genome.wustl.edu 37 1 2938676 2938676 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_080431.4 +1 reviewed p.A142 0.029 74 0% 44 45.5% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e DNAJC11 55735 genome.wustl.edu 37 1 6704719 6704719 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018198.3 -1 validated p.G332 0.997 122 0% 110 47.3% 5 60% - - - NULL RERE 473 genome.wustl.edu 37 1 8716051 8716051 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001042681.1 -1 reviewed p.D102 0.980 427 0% 471 42.5% 1 0% - - - NULL KIF1B 23095 genome.wustl.edu 37 1 10425242 10425242 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015074.3 +1 reviewed p.R1438L 1.000 64 0% 92 44.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MASP2 10747 genome.wustl.edu 37 1 11087647 11087647 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006610.2 -1 reviewed p.K452 0.037 79 0% 137 40.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CLCN6 1185 genome.wustl.edu 37 1 11866361 11866361 + Missense_Mutation SNP G G C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001286.2 +1 reviewed p.W14C 0.998 15 0.000 7 0.571 1 0% unknown(0) deleterious(0) - NULL ARHGEF19 128272 genome.wustl.edu 37 1 16534664 16534664 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_153213.3 -1 provisional p.A157T 0.000 72 0% 58 37.9% 3 100% benign(0) tolerated(1) - NULL TAS1R2 80834 genome.wustl.edu 37 1 19183865 19183865 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152232.2 -1 validated p.M148T 0.000 149 0% 114 36.8% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_ANF_receptor,superfamily_SSF53822 RHCE 6006 genome.wustl.edu 37 1 25735283 25735283 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020485.3 -1 reviewed p.S76G 0.914 203 0% 185 41.6% 0 - possibly_damaging(0.796) tolerated(0.09) deleterious(0.595) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) ZBTB8A 653121 genome.wustl.edu 37 1 33065978 33065979 + In_Frame_Ins INS - - GAA novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001040441.1 +1 validated p.432in_frame_insE 1.000:1.000 - - - - - - - - - NULL C1orf94 84970 genome.wustl.edu 37 1 34663243 34663243 + Missense_Mutation SNP G G C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001134734.1 +1 validated p.K246N 0.402 66 0% 59 40.7% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL NCDN 23154 genome.wustl.edu 37 1 36028195 36028195 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001014839.1 +1 reviewed p.P449L 1.000 104 0% 68 42.6% 3 0% benign(0.001) tolerated(0.28) neutral(0.032) HMMPfam_Neurochondrin THRAP3 9967 genome.wustl.edu 37 1 36754986 36754986 + Frame_Shift_Del DEL G G - novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005119.3 +1 validated p.V456fs 1.000 - - - - - - - - - NULL MACF1 23499 genome.wustl.edu 37 1 39749189 39749189 + Splice_Site SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_012090.3 +1 reviewed e8+2 1.000 348 0% 375 41.6% 1 100% - - - - MACF1 23499 genome.wustl.edu 37 1 39909116 39909116 + Splice_Site SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_033044.2 +1 reviewed e44-2 1.000 189 0% 216 41.7% 0 - - - - - TOE1 114034 genome.wustl.edu 37 1 45807642 45807643 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_025077.3 +1 validated p.V120fs 1.000:1.000 - - - - - - - - - HMMPfam_CAF1,superfamily_RNaseH_fold SLC5A9 200010 genome.wustl.edu 37 1 48688536 48688536 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001135181.1 +1 validated p.I43T 0.948 134 0% 96 43.8% 0 - benign(0.033) deleterious(0.04) neutral(0.350) NULL EFCAB7 84455 genome.wustl.edu 37 1 64038143 64038143 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032437.2 +1 validated p.R616* 0.005 187 0% 197 33% 9 44.4% - - - NULL TTLL7 79739 genome.wustl.edu 37 1 84356121 84356121 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024686.4 -1 validated p.R751H 1.000 134 0% 127 40.2% 8 50% possibly_damaging(0.697) tolerated(0.11) deleterious(0.522) NULL ARHGAP29 9411 genome.wustl.edu 37 1 94650464 94650464 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004815.3 -1 validated p.C691 0.998 308 0% 288 39.2% 2 50% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP LRIF1 55791 genome.wustl.edu 37 1 111495090 111495090 + Missense_Mutation SNP C C G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018372.3 -1 validated p.G139A 1.000 216 0% 183 46.4% 1 100% benign(0.168) tolerated(0.08) neutral(0.315) NULL DENND2D 79961 genome.wustl.edu 37 1 111737213 111737213 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024901.3 -1 provisional p.A261T 1.000 70 0% 79 44.3% 9 44.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_DENN,HMMSmart_SM00799 RAP1A 5906 genome.wustl.edu 37 1 112240089 112240089 + Nonsense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001010935.1 +1 reviewed p.C51* 1.000 452 0% 464 48.3% 4 75% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases NOTCH2 4853 genome.wustl.edu 37 1 120497741 120497741 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024408.2 -1 reviewed p.H714R 0.993 212 0% 189 40.2% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMSmart_EGF_CA,superfamily_SSF57196 SLC27A3 11000 genome.wustl.edu 37 1 153751753 153751753 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000368659 +1 known p.Q19R 0.001 125 0% 115 42.6% 0 - - - - NULL ADAR 103 genome.wustl.edu 37 1 154569289 154569289 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001111.3 -1 reviewed p.H754 0.922 117 0% 110 35.5% 3 0% - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like ZBTB7B 51043 genome.wustl.edu 37 1 154987270 154987270 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015872.2 +1 validated p.Y45C 1.000 63 0% 46 43.5% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB RXRG 6258 genome.wustl.edu 37 1 165378891 165378891 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006917.3 -1 reviewed p.R317H 1.000 279 0% 207 38.2% 2 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor DUSP27 92235 genome.wustl.edu 37 1 167097007 167097007 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001080426.1 +1 provisional p.D880G 0.000 228 0% 232 44.8% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL PRRC2C 23215 genome.wustl.edu 37 1 171506519 171506519 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015172.3 +1 validated p.E802G 1.000 102 0% 114 40.4% 0 - unknown(0) - - NULL AXDND1 126859 genome.wustl.edu 37 1 179338076 179338076 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_144696.4 +1 validated p.L80S 1.000 185 0% 167 22.8% 0 - unknown(0) deleterious(0.03) - NULL SMG7 9887 genome.wustl.edu 37 1 183498025 183498025 + Splice_Site SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_173156.2 +1 validated e7-2 0.998 411 0% 454 42.7% 0 - - - - - NFASC 23114 genome.wustl.edu 37 1 204970400 204970400 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000367172 +1 known p.V1148A 1.000 228 0% 195 15.9% 0 - benign(0.156) deleterious(0.01) neutral(0.420) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PFKFB2 5208 genome.wustl.edu 37 1 207235990 207235990 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006212.2 +1 reviewed p.R79 0.056 325 0% 294 40.1% 0 - - - - HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPN14 5784 genome.wustl.edu 37 1 214558058 214558058 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005401.4 -1 reviewed p.N380 0.914 178 0% 138 45.7% 0 - - - - NULL TGFB2 7042 genome.wustl.edu 37 1 218520253 218520253 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001135599.1 +1 validated p.I70 1.000 54 0% 33 30.3% 0 - - - - HMMPfam_TGFb_propeptide DISP1 84976 genome.wustl.edu 37 1 223178499 223178499 + Missense_Mutation SNP C C G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032890.2 +1 reviewed p.P1254A 0.001 133 0% 125 40.8% 1 0% benign(0) tolerated(0.06) neutral(0.323) NULL PARP1 142 genome.wustl.edu 37 1 226549732 226549732 + Silent SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001618.3 -1 reviewed p.V967 0.253 176 0% 167 46.1% 59 42.3% - - - HMMPfam_PARP,superfamily_ADP-ribosylation OBSCN 84033 genome.wustl.edu 37 1 228466419 228466419 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001098623.1 +1 reviewed p.R2297W 0.980 61 0% 60 23.3% 0 - probably_damaging(1) - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228471412 228471412 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001098623.1 +1 reviewed p.S2982 0.967 59 0% 27 37% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin AGT 183 genome.wustl.edu 37 1 230839068 230839068 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000029.3 -1 reviewed p.N426S 0.939 210 0% 182 36.3% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins RYR2 6262 genome.wustl.edu 37 1 237586435 237586435 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001035.2 +1 reviewed p.R298C 0.940 211 0% 203 40.9% 0 - probably_damaging(0.99) - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 RYR2 6262 genome.wustl.edu 37 1 237798238 237798238 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001035.2 +1 reviewed p.S2246 0.031 206 0.5% 218 33.9% 0 - - - - HMMPfam_RYDR_ITPR ZNF238 10472 genome.wustl.edu 37 1 244217424 244217424 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_205768.2 +1 validated p.Y116 1.000 165 0% 152 45.4% 1 100% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB AHCTF1 25909 genome.wustl.edu 37 1 247025434 247025434 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015446.4 -1 validated p.S1188T 1.000 230 0% 260 25.8% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL OR2M4 26245 genome.wustl.edu 37 1 248402986 248402986 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017504.1 +1 provisional p.Y252 0.375 225 0% 224 46.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 C2orf90 391343 genome.wustl.edu 37 2 905929 905929 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000434864 -1 known p.Q6P 0.103 737 0% 684 22.7% 0 - - - - NULL PXDN 7837 genome.wustl.edu 37 2 1652304 1652304 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_012293.1 -1 validated p.R1083Q 1.000 84 0% 55 43.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases RDH14 57665 genome.wustl.edu 37 2 18736490 18736490 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020905.3 -1 validated p.D326 1.000 413 0% 308 44.2% 13 38.4% - - - NULL NT5C1B 93034 genome.wustl.edu 37 2 18768849 18768849 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001002006.1 -1 validated p.G14R 0.010 486 0% 448 42.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PUM2 23369 genome.wustl.edu 37 2 20478390 20478390 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015317.1 -1 provisional p.P637 1.000 313 0.3% 336 41.4% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21258578 21258578 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000384.2 -1 reviewed p.T232 0.006 175 0% 176 33.5% 0 - - - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions NCOA1 8648 genome.wustl.edu 37 2 24951195 24951195 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003743.4 +1 reviewed p.Q912 0.876 187 0% 179 38.5% 0 - - - - NULL PREB 10113 genome.wustl.edu 37 2 27354539 27354539 + Splice_Site SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_013388.4 -1 reviewed e8+1 1.000 108 0% 96 53.1% 0 - - - - - CAPN14 440854 genome.wustl.edu 37 2 31401383 31401383 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001145122.1 -1 validated p.L591 0.852 302 0% 232 44.8% 0 - - - - superfamily_EF-hand BIRC6 57448 genome.wustl.edu 37 2 32690174 32690174 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016252.3 +1 reviewed p.A1766 0.997 394 0% 413 44.1% 0 - - - - NULL CCDC75 253635 genome.wustl.edu 37 2 37316894 37316894 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_174931.2 +1 validated p.E53D 0.999 233 0% 278 44.2% 3 0% benign(0.002) tolerated(0.51) neutral(0.009) NULL PRKD3 23683 genome.wustl.edu 37 2 37483991 37483991 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005813.3 -1 reviewed p.L743V 0.969 265 0% 227 42.7% 3 100% possibly_damaging(0.498) tolerated(0.82) neutral(0.167) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CDKL4 344387 genome.wustl.edu 37 2 39406450 39406450 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001009565.1 -1 provisional p.M269V 1.000 265 0% 313 33.5% 0 - benign(0.406) tolerated(0.09) neutral(0.427) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TMEM178 130733 genome.wustl.edu 37 2 39931240 39931240 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000378734 +1 known p.G95S 0.994 244 0% 181 43.1% 8 50% unknown(0) deleterious(0) - NULL NRXN1 9378 genome.wustl.edu 37 2 50724632 50724632 + Silent SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001135659.1 -1 reviewed p.P946 0.997 295 0% 345 43.8% 0 - - - - superfamily_ConA_like_lec_gl EML6 400954 genome.wustl.edu 37 2 55071257 55071257 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001039753.2 +1 validated p.E307 1.000 142 0% 131 37.4% 0 - - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase EGR4 1961 genome.wustl.edu 37 2 73519307 73519307 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001965.3 -1 validated p.S247R 1.000 29 0% 18 44.4% 1 100% possibly_damaging(0.839) deleterious(0) deleterious(0.765) NULL SUCLG1 8802 genome.wustl.edu 37 2 84652698 84652699 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003849.3 -1 reviewed p.I286fs 1.000:1.000 - - - - - - - - - HMMPfam_Ligase_CoA,superfamily_CoA_ligase ADRA2B 151 genome.wustl.edu 37 2 96780781 96780781 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000409345 -1 known p.L370 1.000 162 0% 131 30.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SNRNP200 23020 genome.wustl.edu 37 2 96954406 96954406 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014014.3 -1 reviewed p.T1085A 0.998 164 0% 148 39.9% 4 25% benign(0.039) tolerated(0.1) neutral(0.288) HMMPfam_Sec63,HMMSmart_SM00611 SLC9A4 389015 genome.wustl.edu 37 2 103141593 103141593 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001011552.3 +1 validated p.H643 0.993 261 0% 236 47.5% 1 100% - - - NULL ACOXL 55289 genome.wustl.edu 37 2 111556277 111556277 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001142807.1 +1 validated p.L146F 1.000 272 0% 270 44.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Acyl-CoA_dh_M,superfamily_Acyl-CoA dehydrogenase NM domain-like ANAPC1 64682 genome.wustl.edu 37 2 112549975 112549975 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022662.2 -1 validated p.H1559R 1.000 244 0% 227 30.4% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CKAP2L 150468 genome.wustl.edu 37 2 113496467 113496467 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152515.3 -1 validated p.K724R 0.913 114 0% 116 37.9% 0 - benign(0.006) deleterious(0.02) neutral(0.383) NULL CLASP1 23332 genome.wustl.edu 37 2 122187687 122187687 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015282.2 -1 validated p.R660Q 0.941 118 0% 133 42.1% 1 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL MYO7B 4648 genome.wustl.edu 37 2 128383034 128383034 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001080527.1 +1 provisional p.S1354N 0.999 30 0% 12 33.3% 0 - benign(0.058) tolerated(0.82) neutral(0.004) superfamily_Second domain of FERM,HMMSmart_SM00295 UGGT1 56886 genome.wustl.edu 37 2 128938531 128938531 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020120.3 +1 validated p.R1323Q 1.000 359 0% 378 44.2% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Nucleotide-diphospho-sugar transferases FAM123C 205147 genome.wustl.edu 37 2 131520726 131520726 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001105193.1 +1 validated p.G361S 0.792 44 0% 33 48.5% 0 - benign(0.008) deleterious(0.03) neutral(0.364) HMMPfam_WTX LCT 3938 genome.wustl.edu 37 2 136594400 136594400 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002299.2 -1 reviewed p.R114W 0.951 232 0% 243 38.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Glyco_hydro_cat SPOPL 339745 genome.wustl.edu 37 2 139322338 139322338 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001001664.2 +1 validated p.E300K 1.000 347 0% 374 40.9% 1 0% possibly_damaging(0.619) tolerated(0.12) deleterious(0.476) NULL ACVR2A 92 genome.wustl.edu 37 2 148676094 148676094 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001616.3 +1 reviewed p.G299R 1.000 226 0% 236 41.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EPC2 26122 genome.wustl.edu 37 2 149542570 149542571 + Frame_Shift_Ins INS - - GT novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015630.3 +1 validated p.E785fs 1.000:1.000 - - - - - - - - - HMMPfam_E_Pc_C NEB 4703 genome.wustl.edu 37 2 152346519 152346519 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004543.4 -1 reviewed p.V6601A 0.887 724 0% 885 42.1% 2 100% benign(0.011) - - superfamily_SH3-domain PKP4 8502 genome.wustl.edu 37 2 159477615 159477615 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003628.3 +1 reviewed p.S132A 1.000 218 0% 192 44.8% 3 0% probably_damaging(0.975) tolerated(0.12) deleterious(0.677) NULL BAZ2B 29994 genome.wustl.edu 37 2 160181443 160181481 + Frame_Shift_Del DEL TTTCCATTTCAGTCAGAATCATACTAAAGAAAATAATGT TTTCCATTTCAGTCAGAATCATACTAAAGAAAATAATGT - novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 TTTCCATTTCAGTCAGAATCATACTAAAGAAAATAATGT TTTCCATTTCAGTCAGAATCATACTAAAGAAAATAATGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_013450.2 -1 validated p.M2071fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996 - - - - - - - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain DLX2 1746 genome.wustl.edu 37 2 172967067 172967067 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004405.3 -1 reviewed p.Y67C 1.000 92 0% 81 24.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SESTD1 91404 genome.wustl.edu 37 2 179981498 179981498 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_178123.4 -1 validated p.E515G 1.000 274 0% 222 34.2% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SPEC,superfamily_Spectrin NCKAP1 10787 genome.wustl.edu 37 2 183822249 183822249 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_205842.1 -1 validated p.G659R 1.000 540 0% 516 42.4% 3 100% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_Nckap1 FZD5 7855 genome.wustl.edu 37 2 208632956 208632956 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003468.3 -1 reviewed p.P170S 0.000 13 0% 14 42.9% 0 - benign(0) tolerated(0.41) neutral(0.015) NULL CXCR1 3577 genome.wustl.edu 37 2 219029605 219029605 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000634.2 -1 reviewed p.C110 1.000 261 0% 248 41.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like STK16 8576 genome.wustl.edu 37 2 220111502 220111502 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001008910.2 +1 validated p.R70 1.000 251 0% 203 42.4% 9 44.4% - - - superfamily_Kinase_like,HMMPfam_Pkinase CUL3 8452 genome.wustl.edu 37 2 225422409 225422409 + Silent SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000436172 -1 known p.K98Q 1.000 280 0% 350 40.9% 0 - - - - HMMPfam_Cullin,superfamily_Cullin repeat SP140L 93349 genome.wustl.edu 37 2 231223780 231223780 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_138402.4 +1 provisional p.A124 0.000 311 0% 325 40.9% 0 - - - - HMMPfam_Sp100 NGEF 25791 genome.wustl.edu 37 2 233839402 233839402 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_019850.2 -1 validated p.R67C 0.891 715 0% 770 40.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BOK 666 genome.wustl.edu 37 2 242501798 242501798 + Missense_Mutation SNP C C A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032515.3 +1 reviewed p.R86S 1.000 39 0% 31 25.8% 5 20% probably_damaging(0.996) tolerated(0.53) deleterious(0.469) HMMPfam_Bcl-2,HMMSmart_BCL,superfamily_SSF56854 IQSEC1 9922 genome.wustl.edu 37 3 12977029 12977029 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014869.4 -1 validated p.R510H 1.000 187 0.5% 177 42.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBLN2 2199 genome.wustl.edu 37 3 13661291 13661291 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001004019.1 +1 reviewed p.F705 0.884 312 0% 276 45.3% 4 25% - - - HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin BTD 686 genome.wustl.edu 37 3 15686713 15686713 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000060.2 +1 reviewed p.H450 0.991 254 0% 233 44.2% 1 100% - - - NULL MLH1 4292 genome.wustl.edu 37 3 37055974 37055974 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000456676 +1 known p.M235T 0.926 175 0% 177 37.9% 1 0% - - - HMMPfam_DNA_mis_repair,superfamily_Ribosomal protein S5 domain 2-like SCN5A 6331 genome.wustl.edu 37 3 38628962 38628962 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001099404.1 -1 reviewed p.V789I 1.000 341 0% 274 43.8% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ULK4 54986 genome.wustl.edu 37 3 41795976 41795976 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017886.2 -1 validated p.F733S 1.000 207 0% 243 45.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold TMIE 259236 genome.wustl.edu 37 3 46751073 46751074 + In_Frame_Ins INS - - AAG novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_147196.2 +1 reviewed p.126in_frame_insK 0.011:0.074 - - - - - - - - - NULL BSN 8927 genome.wustl.edu 37 3 49698151 49698151 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003458.3 +1 reviewed p.L2958R 1.000 21 0% 13 76.9% 0 - unknown(0) - - NULL RBM6 10180 genome.wustl.edu 37 3 50098909 50098909 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005777.2 +1 validated p.Y790N 1.000 395 0% 473 44.4% 21 33.3% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL SLC38A3 10991 genome.wustl.edu 37 3 50256142 50256142 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006841.4 +1 validated p.L385P 1.000 115 0% 70 51.4% 0 - - - - HMMPfam_Aa_trans GNAI2 2771 genome.wustl.edu 37 3 50293670 50293670 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002070.2 +1 reviewed p.T171A 1.000 134 0% 109 37.6% 33 30.3% benign(0.253) deleterious(0) deleterious(0.471) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases ROBO2 6092 genome.wustl.edu 37 3 77530314 77530314 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002942.3 +1 reviewed p.V204A 0.999 378 0% 387 36.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DZIP3 9666 genome.wustl.edu 37 3 108365482 108365482 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014648.3 +1 validated p.I593T 1.000 251 0% 210 39.5% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL GUCA1C 9626 genome.wustl.edu 37 3 108635044 108635044 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005459.3 -1 validated p.N124 0.017 308 0% 310 41.3% 0 - - - - superfamily_EF-hand ZNF148 7707 genome.wustl.edu 37 3 124951269 124951269 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021964.2 -1 validated p.S767 1.000 106 0% 104 47.1% 2 100% - - - NULL C3orf27 23434 genome.wustl.edu 37 3 128292335 128292335 + Nonsense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_007354.1 -1 provisional p.R80* 0.000 84 0% 85 42.4% 0 - - - - NULL TOPBP1 11073 genome.wustl.edu 37 3 133337254 133337254 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_007027.3 -1 reviewed p.D1132G 1.000 153 0% 155 19.4% 2 50% benign(0.102) deleterious(0) neutral(0.453) NULL TOPBP1 11073 genome.wustl.edu 37 3 133377934 133377934 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_007027.3 -1 reviewed p.K49E 0.035 475 0% 389 41.9% 0 - benign(0.004) tolerated(0.5) neutral(0.010) NULL ARMC8 25852 genome.wustl.edu 37 3 137947820 137947820 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015396.3 +1 validated p.Y152N 1.000 159 0% 151 45% 4 75% possibly_damaging(0.918) tolerated(0.29) neutral(0.398) superfamily_ARM-type_fold ZBTB38 253461 genome.wustl.edu 37 3 141164409 141164409 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001080412.2 +1 validated p.H1060R 1.000 150 0% 132 39.4% 3 33.3% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ATR 545 genome.wustl.edu 37 3 142231227 142231227 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001184.3 -1 reviewed p.L1576R 1.000 347 0% 376 45.2% 1 0% possibly_damaging(0.696) deleterious(0.03) deleterious(0.614) superfamily_ARM repeat TM4SF4 7104 genome.wustl.edu 37 3 149205527 149205527 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004617.2 +1 reviewed p.Y129C 1.000 198 0% 174 44.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_L6_membrane P2RY12 64805 genome.wustl.edu 37 3 151056149 151056149 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022788.3 -1 reviewed p.L162P 1.000 203 0% 253 40.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_7tm_1,superfamily_SSF81321 P2RY1 5028 genome.wustl.edu 37 3 152554678 152554678 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002563.2 +1 reviewed p.G369 0.998 16 0% 21 47.6% 0 - - - - NULL MECOM 2122 genome.wustl.edu 37 3 168807953 168807953 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000494292 -1 known p.E1070G 1.000 366 0% 351 40.7% 24 75% benign(0.059) deleterious(0) neutral(0.449) NULL SLC7A14 57709 genome.wustl.edu 37 3 170198888 170198888 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020949.2 -1 validated p.A395T 1.000 64 0% 48 37.5% 0 - possibly_damaging(0.625) deleterious(0.03) deleterious(0.583) HMMPfam_AA_permease PIK3CA 5290 genome.wustl.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006218.2 +1 reviewed p.E110in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_SSF54236 USP13 8975 genome.wustl.edu 37 3 179483543 179483543 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003940.2 +1 validated p.S774G 0.990 458 0.2% 421 40.4% 1 100% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_UCH,superfamily_SSF54001 ATP11B 23200 genome.wustl.edu 37 3 182603775 182603775 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014616.1 +1 validated p.F898L 1.000 741 0.3% 826 27.1% 0 - possibly_damaging(0.946) tolerated(0.3) neutral(0.419) NULL RFC4 5984 genome.wustl.edu 37 3 186507846 186507846 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002916.3 -1 reviewed p.D335G 0.762 308 0% 283 50.5% 20 65% benign(0.386) deleterious(0.03) deleterious(0.488) superfamily_Pol_clamp_load_C,HMMPfam_Rep_fac_C LPP 4026 genome.wustl.edu 37 3 188590502 188590502 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005578.3 +1 reviewed p.R554H 1.000 315 0% 280 42.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) TP63 8626 genome.wustl.edu 37 3 189612035 189612035 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003722.4 +1 reviewed p.A596V 1.000 205 0% 132 35.6% 0 - benign(0.009) tolerated(0.97) neutral(0.001) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 RNF168 165918 genome.wustl.edu 37 3 196229774 196229774 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152617.2 -1 provisional p.R91G 0.733 175 0% 176 48.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SENP5 205564 genome.wustl.edu 37 3 196612430 196612430 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152699.4 +1 validated p.S126 0.972 109 0% 80 42.5% 0 - - - - NULL FAM53A 152877 genome.wustl.edu 37 4 1643215 1643215 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001013622.3 -1 validated p.T334 0.022 217 0% 184 42.9% 0 - - - - NULL NCAPG 64151 genome.wustl.edu 37 4 17832669 17832669 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022346.3 +1 validated p.V605A 1.000 531 0% 481 41.2% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM-type_fold TLR6 10333 genome.wustl.edu 37 4 38830385 38830385 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006068.3 -1 validated p.V237A 0.002 218 0% 177 39% 0 - possibly_damaging(0.737) tolerated(0.42) neutral(0.284) superfamily_SSF52058 YIPF7 285525 genome.wustl.edu 37 4 44624497 44624497 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_182592.2 -1 validated p.Q259 0.995 98 0% 106 53.8% 0 - - - - HMMPfam_Yip1 KDR 3791 genome.wustl.edu 37 4 55953784 55953784 + Missense_Mutation SNP C C G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002253.2 -1 reviewed p.A1218P 1.000 307 0% 260 43.8% 2 0% benign(0.01) tolerated(0.3) neutral(0.029) NULL TECRL 253017 genome.wustl.edu 37 4 65147236 65147236 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001010874.4 -1 validated p.T292A 1.000 239 0% 214 42.5% 0 - probably_damaging(0.998) tolerated(0.28) deleterious(0.506) HMMPfam_Steroid_dh UGT2B11 10720 genome.wustl.edu 37 4 69870634 69870634 + Missense_Mutation SNP C C A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000381096 -1 known p.K510N 0.006 862 0% 809 28.8% 0 - - - - HMMPfam_UDPGT UGT2B28 54490 genome.wustl.edu 37 4 70156437 70156437 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_053039.1 +1 provisional p.M406I 1.000 361 0% 272 75.7% 0 - benign(0.087) tolerated(0.08) neutral(0.306) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SHROOM3 57619 genome.wustl.edu 37 4 77675759 77675759 + Nonsense_Mutation SNP C C T rs61739939 byFrequency TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020859.3 +1 validated p.R1375* 0.000 47 0% 38 15.8% 1 0% - - - NULL SHROOM3 57619 genome.wustl.edu 37 4 77677830 77677830 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020859.3 +1 validated p.S1646 0.000 181 0.6% 189 40.7% 3 66.6% - - - NULL PLAC8 51316 genome.wustl.edu 37 4 84028966 84028966 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001130715.1 -1 validated p.C37S 1.000 53 0% 70 51.4% 1 100% possibly_damaging(0.513) tolerated(0.13) neutral(0.425) HMMPfam_PLAC8 HERC5 51191 genome.wustl.edu 37 4 89415462 89415462 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016323.2 +1 reviewed p.E808 1.000 318 0% 325 40.3% 3 33.3% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain SMARCAD1 56916 genome.wustl.edu 37 4 95147443 95147443 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001128429.1 +1 validated p.I122V 1.000 151 0% 152 52.6% 0 - benign(0.222) tolerated(0.51) neutral(0.031) NULL EMCN 51705 genome.wustl.edu 37 4 101396210 101396210 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016242.3 -1 validated p.T82A 0.001 249 0% 262 45% 1 0% probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_Endomucin ARSJ 79642 genome.wustl.edu 37 4 114824014 114824014 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024590.3 -1 validated p.T406A 1.000 200 0% 171 45.6% 0 - benign(0.056) tolerated(0.84) neutral(0.004) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like LRBA 987 genome.wustl.edu 37 4 151765332 151765332 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006726.2 -1 validated p.I1497V 0.978 131 0% 103 42.7% 0 - benign(0.055) tolerated(0.66) neutral(0.006) superfamily_ARM repeat KIAA0922 23240 genome.wustl.edu 37 4 154525123 154525123 + Nonsense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015196.3 +1 validated p.K986* 0.992 67 0% 60 48.3% 1 100% - - - NULL DCHS2 54798 genome.wustl.edu 37 4 155411558 155411558 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001142552.1 -1 validated p.R317H 0.991 6 0.000 4 1.000 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Cadherin,superfamily_Cadherin-like FGG 2266 genome.wustl.edu 37 4 155533583 155533583 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021870.2 -1 reviewed p.V28A 0.002 269 0% 281 39.9% 1 0% benign(0.122) tolerated(0.29) neutral(0.039) NULL SLC9A3 6550 genome.wustl.edu 37 5 485314 485314 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004174.2 -1 validated p.A236 0.000 264 0% 219 40.2% 0 - - - - HMMPfam_Na_H_Exchanger LPCAT1 79888 genome.wustl.edu 37 5 1495000 1495000 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024830.3 -1 validated p.M103T 1.000 39 0% 35 42.9% 0 - benign(0.202) tolerated(0.16) neutral(0.079) superfamily_SSF69593 DNAJC21 134218 genome.wustl.edu 37 5 34936269 34936269 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_194283.3 +1 validated p.R112 0.959 568 0% 537 41.9% 2 50% - - - superfamily_Chaperone J-domain MOCS2 4338 genome.wustl.edu 37 5 52396335 52396335 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004531.3 -1 reviewed p.I136T 0.962 170 0% 126 48.4% 7 0% benign(0.248) deleterious(0.01) neutral(0.431) HMMPfam_MoaE,superfamily_Mb_biosynth_MoaE TRIM23 373 genome.wustl.edu 37 5 64910016 64910016 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001656.3 -1 reviewed p.N92I 1.000 327 0% 332 45.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RGNEF 64283 genome.wustl.edu 37 5 73091156 73091156 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001080479.2 +1 reviewed p.R322C 0.000 221 0% 203 43.8% 0 - benign(0.002) deleterious(0.02) neutral(0.383) NULL HMGCR 3156 genome.wustl.edu 37 5 74641412 74641412 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000859.2 +1 reviewed p.F127L 1.000 566 0% 612 41.3% 0 - probably_damaging(0.987) tolerated(0.14) deleterious(0.686) superfamily_Multidrug efflux transporter AcrB transmembrane domain FAM172A 83989 genome.wustl.edu 37 5 93410349 93410349 + Splice_Site SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032042.5 -1 validated e1+2 1.000 414 0% 445 35.1% 0 - - - - - PPIP5K2 23262 genome.wustl.edu 37 5 102519007 102519007 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015216.2 +1 provisional p.T999A 1.000 180 0% 169 45.6% 1 0% benign(0.007) tolerated(0.84) neutral(0.001) NULL APC 324 genome.wustl.edu 37 5 112176038 112176038 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000038.4 +1 reviewed p.M1583V 1.000 166 0% 161 41.6% 0 - benign(0.144) tolerated(0.17) neutral(0.071) HMMPfam_SAMP RAPGEF6 51735 genome.wustl.edu 37 5 130828287 130828287 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016340.5 -1 validated p.K573 1.000 417 0.2% 403 36.5% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_Ras GEF LEAP2 116842 genome.wustl.edu 37 5 132209674 132209674 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_052971.2 +1 validated p.S30 0.000 251 0.4% 223 42.2% 4 25% - - - HMMPfam_LEAP-2 SAR1B 51128 genome.wustl.edu 37 5 133948399 133948399 + Missense_Mutation SNP G G T rs59900570 TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001033503.2 -1 reviewed p.L76M 1.000 104 0% 67 41.8% 37 32.4% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_SAR,HMMPfam_Arf,superfamily_SSF52540 CXXC5 51523 genome.wustl.edu 37 5 139060958 139060958 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016463.7 +1 provisional p.R284* 1.000 27 0% 27 37% 11 9% - - - HMMPfam_zf-CXXC PCDHA10 56139 genome.wustl.edu 37 5 140236674 140236674 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018901.2 +1 reviewed p.P347 0.619 265 0.4% 186 48.9% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like ENSG00000250004 0 genome.wustl.edu 37 5 140605594 140605594 + RNA SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000515856 -1 novel NULL 0.000 12 0% 15 46.7% 26 34.6% - - - - SPINK9 643394 genome.wustl.edu 37 5 147715991 147715991 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001040433.1 +1 provisional p.E21G 0.017 614 0% 554 44.2% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL ARHGEF37 389337 genome.wustl.edu 37 5 148999980 148999980 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001001669.2 +1 validated p.Y320H 1.000 304 0% 284 40.5% 1 100% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_BAR GRIA1 2890 genome.wustl.edu 37 5 153065856 153065856 + Silent SNP C C T rs142420782 by1000genomes TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000827.3 +1 reviewed p.H367 0.999 222 0% 195 34.4% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I EBF1 1879 genome.wustl.edu 37 5 158523370 158523370 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024007.3 -1 validated p.L112 0.825 264 0% 175 37.7% 0 - - - - NULL SLIT3 6586 genome.wustl.edu 37 5 168189617 168189617 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003062.2 -1 validated p.G513S 1.000 200 0% 205 45.4% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_RNI-like DOCK2 1794 genome.wustl.edu 37 5 169138992 169138992 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004946.2 +1 validated p.R512 1.000 440 0.2% 418 37.8% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NHP2 55651 genome.wustl.edu 37 5 177577983 177577983 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017838.3 -1 reviewed p.L81S 1.000 173 0% 185 41.6% 91 51.6% possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_Ribosomal_L7Ae,superfamily_SSF55315 CAP2 10486 genome.wustl.edu 37 6 17463242 17463242 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006366.2 +1 reviewed p.S80G 0.972 283 0% 225 20.4% 0 - benign(0) tolerated(0.3) neutral(0.029) HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP LRRC16A 55604 genome.wustl.edu 37 6 25600957 25600957 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000329474 +1 known p.A1179T 1.000 150 0% 160 26.9% 1 0% benign(0.248) tolerated(0.26) neutral(0.059) NULL SLC17A4 10050 genome.wustl.edu 37 6 25777081 25777081 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005495.2 +1 validated p.V388I 1.000 155 0% 142 23.2% 0 - possibly_damaging(0.809) tolerated(0.22) neutral(0.346) HMMPfam_MFS_1,superfamily_MFS general substrate transporter FRS3 10817 genome.wustl.edu 37 6 41738551 41738551 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006653.3 -1 reviewed p.R429C 0.981 24 0% 25 52% 9 22.2% benign(0.002) tolerated(0.12) neutral(0.261) NULL POLH 5429 genome.wustl.edu 37 6 43573012 43573012 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006502.2 +1 reviewed p.L344I 1.000 289 0% 284 43% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_IMS,superfamily_DNA/RNA polymerases TMEM63B 55362 genome.wustl.edu 37 6 44122123 44122123 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018426.1 +1 validated p.T750A 0.003 161 0% 124 46% 13 53.8% benign(0) tolerated(0.76) neutral(0.001) NULL COL21A1 81578 genome.wustl.edu 37 6 55925773 55925773 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_030820.3 -1 reviewed p.V756 0.784 239 0% 157 38.2% 2 50% - - - HMMPfam_Collagen DST 667 genome.wustl.edu 37 6 56350205 56350205 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015548.4 -1 reviewed p.I4415L 1.000 186 0% 199 38.2% 1 0% benign(0.025) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat LMBRD1 55788 genome.wustl.edu 37 6 70500259 70500259 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018368.3 -1 reviewed p.I59F 0.999 391 0% 353 48.4% 2 50% probably_damaging(0.958) tolerated(0.13) deleterious(0.654) HMMPfam_LMBR1 MMS22L 253714 genome.wustl.edu 37 6 97679349 97679349 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_198468.2 -1 predicted p.K494 1.000 309 0% 315 42.9% 1 0% - - - NULL PNISR 25957 genome.wustl.edu 37 6 99856063 99856063 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015491.1 -1 validated p.K253R 1.000 304 0% 309 46.6% 3 66.6% benign(0.224) tolerated(1) neutral(0.022) NULL GPR6 2830 genome.wustl.edu 37 6 110300541 110300541 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005284.3 +1 validated p.D76Y 1.000 28 0% 23 39.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF81321 MED23 9439 genome.wustl.edu 37 6 131948562 131948562 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004830.2 -1 reviewed p.R45G 1.000 187 0% 239 46.9% 0 - benign(0.004) tolerated(0.42) neutral(0.014) NULL SLC35D3 340146 genome.wustl.edu 37 6 137245683 137245683 + Missense_Mutation SNP C C A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001008783.1 +1 provisional p.P367H 0.000 212 0% 186 45.2% 0 - benign(0.024) deleterious(0.04) neutral(0.350) NULL OPRM1 4988 genome.wustl.edu 37 6 154412612 154412612 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001008504.2 +1 reviewed p.R390H 0.421 10 0% 12 41.7% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL SDK1 221935 genome.wustl.edu 37 7 3678739 3678739 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152744.3 +1 validated p.A188T 0.996 109 0% 131 41.2% 2 0% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMSmart_SM00409,superfamily_Immunoglobulin PMS2 5395 genome.wustl.edu 37 7 6022524 6022524 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000535.5 -1 reviewed p.A702D 1.000 272 0.4% 259 25.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MutL_C DAGLB 221955 genome.wustl.edu 37 7 6464423 6464423 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_139179.3 -1 validated p.E367A 0.995 109 0% 140 38.6% 0 - possibly_damaging(0.902) tolerated(0.15) deleterious(0.598) superfamily_alpha/beta-Hydrolases THSD7A 221981 genome.wustl.edu 37 7 11676149 11676149 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015204.2 -1 validated p.C210 0.845 137 0% 116 43.1% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ANLN 54443 genome.wustl.edu 37 7 36492163 36492163 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018685.2 +1 validated p.R1110H 1.000 346 0.3% 269 43.1% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_PH domain-like STARD3NL 83930 genome.wustl.edu 37 7 38247157 38247157 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032016.2 +1 provisional p.S18P 1.000 257 0% 226 47.3% 1 0% benign(0.01) tolerated(0.28) neutral(0.032) NULL AMPH 273 genome.wustl.edu 37 7 38457432 38457432 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001635.2 -1 reviewed p.E464G 1.000 119 0% 144 29.2% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL HECW1 23072 genome.wustl.edu 37 7 43484502 43484502 + Missense_Mutation SNP C C G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015052.3 +1 validated p.S577R 0.146 40 0% 27 55.6% 0 - benign(0.052) tolerated(0.07) neutral(0.322) NULL STK17A 9263 genome.wustl.edu 37 7 43635503 43635503 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004760.2 +1 reviewed p.G70 0.082 100 0% 142 33.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase POLM 27434 genome.wustl.edu 37 7 44113770 44113770 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_013284.2 -1 validated p.A344V 0.144 83 0% 36 36.1% 5 0% benign(0) tolerated(0.29) neutral(0.029) HMMSmart_POLXc,superfamily_SSF81301 ZNF736 728927 genome.wustl.edu 37 7 63797328 63797328 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000423484 +1 known p.V65A 0.002 308 0% 346 43.9% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL ZNF138 7697 genome.wustl.edu 37 7 64292577 64292577 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006524.2 +1 validated p.S262 0.000 82 0% 68 36.8% 2 0% - - - NULL CRCP 27297 genome.wustl.edu 37 7 65595753 65595753 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014478.4 +1 reviewed p.L23P 1.000 198 0% 236 44.5% 3 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00657,superfamily_HRDC-like,HMMPfam_RNA_pol_III_C17 RABGEF1 27342 genome.wustl.edu 37 7 66262417 66262417 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014504.2 +1 validated p.R218C 1.000 180 0% 196 47.4% 2 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_SSF109993 WBSCR16 81554 genome.wustl.edu 37 7 74482570 74482570 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_030798.3 -1 reviewed p.V164I 0.076 58 0% 83 41% 3 66.6% benign(0.018) tolerated(1) neutral(0.001) superfamily_RCC1/BLIP-II DMTF1 9988 genome.wustl.edu 37 7 86823338 86823338 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001142327.1 +1 reviewed p.R650G 1.000 148 0% 113 37.2% 8 25% benign(0.078) deleterious(0) neutral(0.450) NULL PON3 5446 genome.wustl.edu 37 7 94989337 94989337 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000940.2 -1 reviewed p.G338E 0.013 113 0% 125 35.2% 0 - possibly_damaging(0.722) tolerated(0.1) deleterious(0.548) superfamily_Calcium-dependent phosphotriesterase COPS6 10980 genome.wustl.edu 37 7 99689047 99689047 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006833.4 +1 reviewed p.E249D 1.000 288 0% 283 36.4% 220 40% unknown(0) - - NULL LRRC17 10234 genome.wustl.edu 37 7 102574435 102574435 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001031692.2 +1 validated p.S25 0.000 75 0% 68 48.5% 1 0% - - - NULL LAMB1 3912 genome.wustl.edu 37 7 107576085 107576085 + Silent SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002291.2 -1 reviewed p.I1321 0.935 272 0% 267 40.8% 21 23.8% - - - NULL LAMB1 3912 genome.wustl.edu 37 7 107602116 107602116 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002291.2 -1 reviewed p.P621 0.674 229 0.9% 237 42.6% 2 50% - - - NULL LRRN3 54674 genome.wustl.edu 37 7 110763893 110763893 + Missense_Mutation SNP G G C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001099658.1 +1 validated p.E355D 0.998 163 0% 140 43.6% 1 0% benign(0.047) tolerated(0.15) neutral(0.244) HMMSmart_SM00369,superfamily_L domain-like ASZ1 136991 genome.wustl.edu 37 7 117003734 117003734 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_130768.2 -1 validated p.S448 0.999 283 0% 368 41% 0 - - - - NULL WASL 8976 genome.wustl.edu 37 7 123329184 123329184 + Silent SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003941.2 -1 reviewed p.S456 0.927 225 0% 218 35.3% 1 100% - - - superfamily_WASP_C LRRC4 64101 genome.wustl.edu 37 7 127669511 127669511 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022143.4 -1 validated p.A395T 1.000 131 0% 104 50% 4 0% benign(0.122) deleterious(0.01) neutral(0.416) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LRRC4 64101 genome.wustl.edu 37 7 127670386 127670386 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022143.4 -1 validated p.V103A 1.000 355 0% 326 44.2% 0 - benign(0.186) tolerated(0.31) neutral(0.044) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PRRT4 401399 genome.wustl.edu 37 7 127990920 127990920 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001114726.2 -1 validated p.I897T 1.000 20 0% 11 36.4% 0 - possibly_damaging(0.662) deleterious(0) deleterious(0.678) NULL LUC7L2 51631 genome.wustl.edu 37 7 139094364 139094365 + Frame_Shift_Ins INS - - AG novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016019.2 +1 validated p.E252fs 1.000:1.000 - - - - - - - - - HMMPfam_LUC7 LOC100287491 100287491 genome.wustl.edu 37 7 140155047 140155047 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XM_002342800.1 +1 model p.N29 0.296 136 0% 143 45.5% 3 66.6% - - - NULL DENND2A 27147 genome.wustl.edu 37 7 140266965 140266965 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015689.3 -1 validated p.Y567F 1.000 64 0% 58 44.8% 0 - benign(0.384) tolerated(0.07) neutral(0.442) HMMPfam_uDENN,HMMSmart_SM00800 OR6B1 135946 genome.wustl.edu 37 7 143702008 143702008 + Missense_Mutation SNP G G A rs142237296 by1000genomes TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001005281.1 +1 provisional p.A307T 0.012 102 0% 74 50% 0 - benign(0) tolerated(0.71) neutral(0.002) superfamily_Family A G protein-coupled receptor-like CUL1 8454 genome.wustl.edu 37 7 148486915 148486915 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003592.2 +1 validated p.S557 0.040 190 0% 170 41.8% 9 11.1% - - - HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain EZH2 2146 genome.wustl.edu 37 7 148515149 148515149 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004456.3 -1 reviewed p.R354C 1.000 321 0% 301 42.9% 4 50% benign(0.06) tolerated(0.07) neutral(0.323) NULL SSPO 23145 genome.wustl.edu 37 7 149485845 149485845 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000378016 +1 known p.C1355Y 0.995 202 0% 187 42.8% 0 - - - - NULL ARHGEF10 9639 genome.wustl.edu 37 8 1812585 1812585 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014629.2 +1 reviewed p.S176 0.794 287 0% 236 39% 2 100% - - - NULL ANGPT2 285 genome.wustl.edu 37 8 6371357 6371357 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001147.2 -1 reviewed p.G347 0.998 320 0% 303 36% 3 33.3% - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like DEFB104A 140596 genome.wustl.edu 37 8 7698677 7698677 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_080389.2 +1 reviewed p.R60 0.019 1377 0% 1272 16.7% 0 - - - - NULL CSGALNACT1 55790 genome.wustl.edu 37 8 19297444 19297444 + Splice_Site SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001130518.1 -1 validated e3-2 0.999 261 0% 294 36.4% 0 - - - - - PEBP4 157310 genome.wustl.edu 37 8 22582467 22582467 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_144962.2 -1 validated p.Y136H 0.977 156 0% 178 41.6% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PBP,superfamily_PEBP PPP2R2A 5520 genome.wustl.edu 37 8 26227857 26227857 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002717.3 +1 reviewed p.W424* 1.000 189 0% 237 46.8% 8 12.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like FZD3 7976 genome.wustl.edu 37 8 28413331 28413331 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017412.2 +1 reviewed p.I544V 1.000 150 0% 174 44.3% 5 40% benign(0) tolerated(1) - NULL FUT10 84750 genome.wustl.edu 37 8 33246998 33246998 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032664.3 -1 validated p.R232H 0.888 156 0% 210 49% 0 - probably_damaging(0.978) tolerated(0.11) deleterious(0.692) HMMPfam_Glyco_transf_10 BAG4 9530 genome.wustl.edu 37 8 38034641 38034641 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004874.2 +1 reviewed p.A85V 0.084 14 0% 15 46.7% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL PRKDC 5591 genome.wustl.edu 37 8 48802835 48802835 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000314191 -1 known p.S1351P 0.007 375 0% 361 44.6% 0 - possibly_damaging(0.91) tolerated(0.21) neutral(0.406) NULL ST18 9705 genome.wustl.edu 37 8 53045645 53045645 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014682.2 -1 validated p.K806E 1.000 289 0% 283 39.9% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) superfamily_SSF103637 NSMAF 8439 genome.wustl.edu 37 8 59520366 59520366 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001144772.1 -1 reviewed p.R272C 0.895 217 0% 231 45.5% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like LOC100288066 100288066 genome.wustl.edu 37 8 70585308 70585308 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XM_002342855.1 +1 model p.T146A 0.292 236 0% 243 41.6% 0 - - - - NULL EYA1 2138 genome.wustl.edu 37 8 72111652 72111652 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000503.4 -1 reviewed p.A568T 0.972 84 0% 65 38.5% 0 - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_Hydrolase SNORA72 26775 genome.wustl.edu 37 8 99055037 99055037 + RNA SNP C C T rs184494928 by1000genomes TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000501016 +1 known NULL 0.001 183 0% 225 42.7% 14 42.8% - - - - ATP6V1C1 528 genome.wustl.edu 37 8 104054637 104054637 + Splice_Site SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001695.4 +1 reviewed e2+2 1.000 277 0% 405 51.9% 0 - - - - - WDR67 93594 genome.wustl.edu 37 8 124142554 124142554 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_145647.3 +1 validated p.D796G 1.000 251 0% 321 43.3% 4 25% possibly_damaging(0.496) deleterious(0.01) deleterious(0.571) NULL ZHX1 11244 genome.wustl.edu 37 8 124265918 124265918 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001017926.1 -1 reviewed p.R757C 0.943 209 0% 253 45.8% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Homeodomain_like TG 7038 genome.wustl.edu 37 8 133906149 133906149 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003235.4 +1 reviewed p.Y992 0.691 152 0% 149 47.7% 0 - - - - superfamily_Thyroglobulin type-1 domain MIR151A 442893 genome.wustl.edu 37 8 141742742 141742742 + RNA SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000385057 -1 known NULL 1.000 124 0% 123 39.8% 0 - - - - - NRBP2 340371 genome.wustl.edu 37 8 144919933 144919933 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000423469 -1 known p.P71S 0.278 67 0% 58 34.5% 1 0% - - - NULL PLEC 5339 genome.wustl.edu 37 8 145006626 145006626 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_201380.2 -1 reviewed p.V777E 1.000 66 0% 46 34.8% 0 - unknown(0) - - HMMSmart_SM00150,superfamily_Spectrin repeat LRRC14 9684 genome.wustl.edu 37 8 145745144 145745144 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014665.1 +1 provisional p.V12G 1.000 29 0% 18 22.2% 0 - possibly_damaging(0.55) deleterious(0) deleterious(0.631) NULL ZNF251 90987 genome.wustl.edu 37 8 145979657 145979657 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_138367.1 -1 validated p.E28V 0.043 57 0% 69 42% 10 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) RFX3 5991 genome.wustl.edu 37 9 3330445 3330445 + Silent SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_134428.1 -1 reviewed p.T96 0.998 247 0% 230 42.6% 0 - - - - HMMPfam_RFX1_trans_act UHRF2 115426 genome.wustl.edu 37 9 6481664 6481664 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152896.1 +1 reviewed p.T394 1.000 160 0% 213 42.3% 1 0% - - - superfamily_FYVE/PHD zinc finger,HMMPfam_PHD ADAMTSL1 92949 genome.wustl.edu 37 9 18887911 18887911 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001040272.4 +1 validated p.T1444 0.000 222 0% 178 46.6% 17 29.4% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LINGO2 158038 genome.wustl.edu 37 9 27949014 27949014 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152570.1 -1 provisional p.F552 1.000 225 0% 207 44% 0 - - - - NULL ACO1 48 genome.wustl.edu 37 9 32425907 32425907 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002197.2 +1 reviewed p.T420 0.221 207 0% 195 35.9% 3 33.3% - - - HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain DNAJA1 3301 genome.wustl.edu 37 9 33026954 33026955 + In_Frame_Ins INS - - GGA novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001539.2 +1 validated p.96in_frame_insG 1.000:1.000 - - - - - - - - - superfamily_Chaperone J-domain MCART1 92014 genome.wustl.edu 37 9 37878124 37878124 + RNA SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NR_024872.1 -1 validated NULL 0.891 13 0% 13 46.2% 0 - - - - - TRPM6 140803 genome.wustl.edu 37 9 77397324 77397324 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017662.4 -1 reviewed p.F1055L 1.000 175 0% 262 43.1% 0 - possibly_damaging(0.492) tolerated(1) neutral(0.164) HMMPfam_Ion_trans CEP78 84131 genome.wustl.edu 37 9 80881568 80881570 + In_Frame_Del DEL GAG GAG - novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001098802.1 +1 validated p.E688in_frame_del 0.956:0.804:0.016 - - - - - - - - - NULL TEX10 54881 genome.wustl.edu 37 9 103072635 103072635 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017746.3 -1 validated p.I743 0.976 277 0% 290 34.5% 12 50% - - - NULL RNF20 56254 genome.wustl.edu 37 9 104302910 104302911 + Frame_Shift_Ins INS - - GA novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_019592.5 +1 reviewed p.G149fs 1.000:1.000 - - - - - - - - - NULL ASTN2 23245 genome.wustl.edu 37 9 119249711 119249711 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_198187.3 -1 reviewed p.S1142G 1.000 159 0% 128 41.4% 1 0% possibly_damaging(0.839) deleterious(0.02) deleterious(0.704) HMMPfam_fn3,superfamily_Fibronectin type III CDK5RAP2 55755 genome.wustl.edu 37 9 123199768 123199768 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018249.4 -1 reviewed p.S1254P 1.000 217 0% 218 44% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GARNL3 84253 genome.wustl.edu 37 9 130147416 130147416 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032293.4 +1 validated p.A794T 1.000 146 0% 97 40.2% 3 66.6% probably_damaging(0.99) tolerated(1) neutral(0.442) HMMPfam_CNH,HMMSmart_SM00036 TOR1A 1861 genome.wustl.edu 37 9 132585000 132585000 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000113.2 -1 reviewed p.G102R 1.000 454 0% 529 43.1% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR5 11091 genome.wustl.edu 37 9 137019605 137019605 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017588.2 +1 reviewed p.V217M 0.998 240 0% 185 16.2% 7 14.2% probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CAMSAP1 157922 genome.wustl.edu 37 9 138713135 138713135 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015447.3 -1 validated p.T1124 0.005 133 0% 83 47% 2 0% - - - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24873776 24873776 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020824.3 -1 validated p.S1814 0.002 331 0% 184 77.2% 11 72.7% - - - NULL MASTL 84930 genome.wustl.edu 37 10 27444471 27444471 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032844.3 +1 reviewed p.K39R 1.000 110 0% 73 71.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase PARD3 56288 genome.wustl.edu 37 10 34759034 34759034 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_019619.3 -1 validated p.S187 0.329 200 0% 198 43.9% 0 - - - - NULL ANKRD30A 91074 genome.wustl.edu 37 10 37431046 37431046 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_052997.2 +1 validated p.T351 0.225 236 0% 265 44.9% 0 - - - - NULL OR13A1 79290 genome.wustl.edu 37 10 45799361 45799361 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001004297.2 -1 validated p.C170 0.000 21 4.8% 22 54.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ALOX5 240 genome.wustl.edu 37 10 45935934 45935934 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000698.2 +1 reviewed p.Y346 0.921 150 0% 112 42% 0 - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase VSTM4 196740 genome.wustl.edu 37 10 50256526 50256526 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001031746.3 -1 validated p.K258E 1.000 149 0% 91 38.5% 0 - probably_damaging(0.995) tolerated(0.19) deleterious(0.507) NULL ERCC6 2074 genome.wustl.edu 37 10 50690857 50690857 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000124.2 -1 reviewed p.L682R 1.000 157 0% 128 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 NCOA4 8031 genome.wustl.edu 37 10 51584688 51584688 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001145260.1 +1 reviewed p.K279E 1.000 133 0% 88 26.1% 6 50% benign(0.202) deleterious(0.03) neutral(0.384) NULL NCOA4 8031 genome.wustl.edu 37 10 51584689 51584689 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001145260.1 +1 reviewed p.K279R 1.000 136 0% 88 27.3% 6 50% benign(0.418) tolerated(0.25) neutral(0.173) NULL ANK3 288 genome.wustl.edu 37 10 61827702 61827702 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020987.2 -1 reviewed p.S4104G 1.000 247 0% 187 49.7% 1 0% probably_damaging(0.99) tolerated(0.11) deleterious(0.713) HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like AGAP5 729092 genome.wustl.edu 37 10 75457364 75457364 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001144000.1 -1 validated p.Q50 0.049 263 0% 221 46.2% 4 50% - - - NULL KAT6B 23522 genome.wustl.edu 37 10 76789699 76789699 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_012330.2 +1 validated p.Y1706C 1.000 34 0% 37 32.4% 3 0% probably_damaging(0.999) - - NULL EIF5AL1 143244 genome.wustl.edu 37 10 81272750 81272750 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001099692.1 +1 validated p.P115 0.997 386 0% 292 40.1% 70 0% - - - superfamily_Nucleic_acid_OB,HMMPfam_eIF-5a PLCE1 51196 genome.wustl.edu 37 10 95993882 95993882 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016341.3 +1 reviewed p.D676G 0.998 315 0% 262 27.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF MMS19 64210 genome.wustl.edu 37 10 99228062 99228062 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022362.4 -1 validated p.V389I 0.014 78 0% 88 35.2% 3 33.3% benign(0) tolerated(0.8) neutral(0.001) superfamily_ARM repeat CRTAC1 55118 genome.wustl.edu 37 10 99695947 99695947 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018058.4 -1 validated p.N134S 1.000 96 0% 90 34.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_FG-GAP,superfamily_Integrin alpha N-terminal domain ADD3 120 genome.wustl.edu 37 10 111860608 111860608 + Splice_Site SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016824.3 +1 reviewed e1+2 1.000 153 0% 142 46.5% 0 - - - - - RBM20 282996 genome.wustl.edu 37 10 112583363 112583363 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001134363.1 +1 reviewed p.I1148F 1.000 128 0% 136 34.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PTPRE 5791 genome.wustl.edu 37 10 129861420 129861420 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006504.4 +1 reviewed p.L233 0.992 243 0% 198 41.9% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRE 5791 genome.wustl.edu 37 10 129877827 129877827 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006504.4 +1 reviewed p.A632 0.330 316 0% 247 45.7% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II JAKMIP3 282973 genome.wustl.edu 37 10 133980485 133980485 + Splice_Site SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001105521.2 +1 provisional e21-2 1.000 649 0.2% 728 43.7% 0 - - - - - TTC40 54777 genome.wustl.edu 37 10 134754503 134754503 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_173572.3 -1 validated p.P123L 0.778 431 0% 359 46.2% 1 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL MUC5B 727897 genome.wustl.edu 37 11 1247907 1247907 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002458.1 +1 validated p.F88V 1.000 49 0% 46 45.7% 1 0% probably_damaging(0.998) - - HMMPfam_VWD,HMMSmart_SM00216 OR51A7 119687 genome.wustl.edu 37 11 4928964 4928964 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001004749.1 +1 provisional p.R122H 1.000 172 0% 180 41.1% 0 - benign(0.14) deleterious(0.02) neutral(0.395) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 SAAL1 113174 genome.wustl.edu 37 11 18108460 18108460 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_138421.2 -1 validated p.A332V 1.000 193 0% 203 39.4% 8 50% benign(0.43) tolerated(0.18) neutral(0.196) NULL ANO5 203859 genome.wustl.edu 37 11 22276962 22276962 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_213599.2 +1 reviewed p.E409G 1.000 191 0% 202 43.1% 0 - probably_damaging(0.992) tolerated(0.35) neutral(0.468) NULL FBXO3 26273 genome.wustl.edu 37 11 33792360 33792360 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_012175.3 -1 reviewed p.R41* 1.000 241 0.4% 191 38.2% 1 0% - - - HMMPfam_F-box,HMMSmart_SM00256,superfamily_F-box domain ZNF408 79797 genome.wustl.edu 37 11 46724548 46724548 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024741.2 +1 validated p.G136D 0.060 240 0% 260 33.8% 0 - possibly_damaging(0.876) deleterious(0) deleterious(0.786) NULL OR4A15 81328 genome.wustl.edu 37 11 55135868 55135868 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001005275.1 +1 provisional p.V170A 0.000 338 0% 311 46.3% 0 - benign(0.002) tolerated(0.51) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 SMTNL1 219537 genome.wustl.edu 37 11 57314092 57314092 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001105565.1 +1 provisional p.R454Q 0.300 143 0% 113 41.6% 0 - possibly_damaging(0.626) tolerated(0.06) deleterious(0.540) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain PATL1 219988 genome.wustl.edu 37 11 59420470 59420470 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152716.2 -1 validated p.G381 0.903 212 0.5% 194 36.1% 3 33.3% - - - HMMPfam_PAT1 MS4A8B 83661 genome.wustl.edu 37 11 60468467 60468467 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_031457.1 +1 reviewed p.L45P 0.000 247 0% 227 44.1% 7 57.1% benign(0.025) deleterious(0.02) neutral(0.384) NULL FADS3 3995 genome.wustl.edu 37 11 61643345 61643345 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021727.3 -1 reviewed p.T422A 0.346 69 0% 50 50% 59 59.3% benign(0.406) tolerated(0.75) neutral(0.132) NULL PLCB3 5331 genome.wustl.edu 37 11 64023930 64023930 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000932.2 +1 reviewed p.E261K 1.000 67 0% 55 47.3% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_efhand_like,superfamily_EF-hand CCDC88B 283234 genome.wustl.edu 37 11 64108208 64108208 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032251.5 +1 reviewed p.R64W 0.999 39 0% 42 16.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DPF2 5977 genome.wustl.edu 37 11 65113772 65113772 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006268.3 +1 reviewed p.Y320C 1.000 260 0% 260 41.5% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD TSGA10IP 254187 genome.wustl.edu 37 11 65726680 65726680 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000312452 +1 known p.V9A 0.002 78 0% 42 42.9% 0 - - - - NULL DPP3 10072 genome.wustl.edu 37 11 66259059 66259059 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005700.3 +1 reviewed p.R298H 1.000 100 1% 84 38.1% 4 50% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Peptidase_M49 PPFIA1 8500 genome.wustl.edu 37 11 70194401 70194401 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003626.2 +1 reviewed p.S680P 1.000 263 0% 245 40% 0 - benign(0.217) deleterious(0.04) neutral(0.370) NULL GRM5 2915 genome.wustl.edu 37 11 88780437 88780437 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001143831.2 -1 reviewed p.M202V 1.000 167 0% 155 41.9% 0 - benign(0.045) deleterious(0.02) neutral(0.386) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I FAT3 120114 genome.wustl.edu 37 11 92534638 92534638 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001008781.2 +1 validated p.D2820G 1.000 148 0% 128 41.4% 0 - benign(0.003) tolerated(0.06) neutral(0.323) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like SESN3 143686 genome.wustl.edu 37 11 94911070 94911070 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_144665.2 -1 provisional p.Y354H 1.000 117 0% 120 42.5% 2 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_PA26 SESN3 143686 genome.wustl.edu 37 11 94918442 94918442 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_144665.2 -1 provisional p.S247F 1.000 287 0.3% 264 47.7% 1 0% probably_damaging(0.961) tolerated(0.17) neutral(0.463) HMMPfam_PA26 CNTN5 53942 genome.wustl.edu 37 11 99715707 99715707 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014361.2 +1 reviewed p.R134K 1.000 557 0% 611 43.7% 0 - benign(0.001) tolerated(0.37) neutral(0.019) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MMP3 4314 genome.wustl.edu 37 11 102710976 102710976 + Silent SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002422.3 -1 reviewed p.P266 0.000 105 0% 83 43.4% 6 0% - - - NULL ATM 472 genome.wustl.edu 37 11 108158326 108158326 + Splice_Site SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000051.3 +1 reviewed e26-1 1.000 126 0% 138 40.6% 0 - - - - - ATM 472 genome.wustl.edu 37 11 108188219 108188219 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000051.3 +1 reviewed p.N2106K 0.951 192 0% 226 45.6% 0 - possibly_damaging(0.879) tolerated(0.06) deleterious(0.665) HMMPfam_FAT,superfamily_ARM repeat PPP2R1B 5519 genome.wustl.edu 37 11 111622913 111622913 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_181699.2 -1 reviewed p.I436 0.999 135 0% 101 36.6% 2 0% - - - HMMPfam_HEAT,superfamily_ARM-type_fold USP28 57646 genome.wustl.edu 37 11 113675754 113675754 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020886.2 -1 validated p.E805D 0.998 168 0% 192 34.9% 3 66.6% probably_damaging(0.973) deleterious(0.03) deleterious(0.779) NULL BUD13 84811 genome.wustl.edu 37 11 116629011 116629012 + Frame_Shift_Ins INS - - TC novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032725.3 -1 validated p.D491fs 0.678:1.000 - - - - - - - - - HMMPfam_DUF2050 SIK3 23387 genome.wustl.edu 37 11 116797961 116797961 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_025164.3 -1 validated p.D139G 1.000 347 0% 369 40.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CXCR5 643 genome.wustl.edu 37 11 118764831 118764831 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032966.1 +1 reviewed p.G148D 0.000 47 0% 56 42.9% 0 - benign(0) tolerated(0.44) neutral(0.013) HMMPfam_7tm_1,superfamily_SSF81321 OR10G4 390264 genome.wustl.edu 37 11 123886693 123886693 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001004462.1 +1 provisional p.S138G 0.000 345 0% 296 41.2% 0 - benign(0) tolerated(0.15) neutral(0.241) HMMPfam_7tm_1,superfamily_SSF81321 EFCAB4B 84766 genome.wustl.edu 37 12 3747319 3747319 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001144958.1 -1 validated p.Q525K 1.000 57 0% 44 47.7% 0 - possibly_damaging(0.952) tolerated(0.87) neutral(0.396) NULL GDF3 9573 genome.wustl.edu 37 12 7843050 7843050 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020634.1 -1 reviewed p.P173 0.000 116 0% 119 36.1% 0 - - - - NULL ATF7IP 55729 genome.wustl.edu 37 12 14628904 14628904 + Splice_Site SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018179.3 +1 validated e10+2 1.000 410 0.2% 377 42.4% 1 100% - - - - PIK3C2G 5288 genome.wustl.edu 37 12 18715750 18715750 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004570.4 +1 reviewed p.Q1194R 0.460 355 0% 324 43.5% 0 - benign(0.273) tolerated(0.7) neutral(0.031) superfamily_PX domain C12orf35 55196 genome.wustl.edu 37 12 32136112 32136112 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018169.3 +1 validated p.V741 0.002 175 0% 161 36.6% 3 0% - - - NULL ENDOU 8909 genome.wustl.edu 37 12 48110712 48110712 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006025.3 -1 reviewed p.P130L 0.222 549 0% 552 42.4% 0 - probably_damaging(0.965) tolerated(0.12) deleterious(0.667) HMMPfam_XendoU SLC4A8 9498 genome.wustl.edu 37 12 51888733 51888733 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001039960.1 +1 validated p.F925S 1.000 385 0% 306 43.8% 0 - probably_damaging(0.995) tolerated(0.12) deleterious(0.718) HMMPfam_HCO3_cotransp KRT1 3848 genome.wustl.edu 37 12 53073720 53073720 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006121.3 -1 reviewed p.G138E 0.097 713 0% 742 36.7% 0 - unknown(0) deleterious(0.04) - NULL KRT8 3856 genome.wustl.edu 37 12 53293804 53293804 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002273.3 -1 reviewed p.L246 1.000 32 0% 34 29.4% 446 39% - - - superfamily_Prefoldin,HMMPfam_Filament KIAA0748 9840 genome.wustl.edu 37 12 55354987 55354987 + Splice_Site SNP T T C rs114438533 byCluster;byFrequency;by1000genomes TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000257883 -1 known e2+2 0.000 274 0% 258 42.2% 1 0% benign(0.081) deleterious(0) neutral(0.451) - OR6C75 390323 genome.wustl.edu 37 12 55758988 55758988 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001005497.1 +1 provisional p.T32A 0.446 132 0% 123 37.4% 0 - possibly_damaging(0.793) tolerated(0.45) neutral(0.310) superfamily_SSF81321 SLC39A5 283375 genome.wustl.edu 37 12 56625308 56625308 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001135195.1 +1 validated p.R84W 0.899 88 0% 65 43.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL STAT2 6773 genome.wustl.edu 37 12 56739945 56739945 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005419.3 -1 reviewed p.I696S 1.000 439 0% 455 17.8% 6 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SH2 domain LRP1 4035 genome.wustl.edu 37 12 57573236 57573236 + Missense_Mutation SNP C C G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002332.2 +1 reviewed p.D1621E 1.000 155 0% 139 38.8% 0 - probably_damaging(0.999) tolerated(0.29) deleterious(0.519) HMMSmart_SM00135,superfamily_YWTD domain R3HDM2 22864 genome.wustl.edu 37 12 57663634 57663634 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014925.3 -1 validated p.T482 0.719 322 0% 397 42.1% 1 0% - - - NULL INHBE 83729 genome.wustl.edu 37 12 57850225 57850225 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_031479.3 +1 validated p.Q216R 1.000 85 0% 76 44.7% 0 - benign(0) tolerated(1) - NULL B4GALNT1 2583 genome.wustl.edu 37 12 58023998 58023998 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001478.3 -1 reviewed p.N217D 1.000 177 0% 144 38.9% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL LRIG3 121227 genome.wustl.edu 37 12 59267937 59267937 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_153377.3 -1 provisional p.N1005 0.012 279 0% 285 43.2% 1 0% - - - NULL LRIG3 121227 genome.wustl.edu 37 12 59268111 59268111 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_153377.3 -1 provisional p.G947 0.987 272 0% 284 44.7% 0 - - - - NULL SLC16A7 9194 genome.wustl.edu 37 12 60169197 60169197 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004731.3 +1 provisional p.A374V 1.000 224 0% 199 43.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter LEMD3 23592 genome.wustl.edu 37 12 65633989 65633989 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014319.4 +1 reviewed p.V699 0.995 242 0% 266 47.4% 0 - - - - HMMPfam_MAN1_C ZFC3H1 196441 genome.wustl.edu 37 12 72024660 72024660 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_144982.4 -1 validated p.D1182G 1.000 374 0% 388 36.9% 0 - benign(0.13) tolerated(0.15) neutral(0.252) NULL NAV3 89795 genome.wustl.edu 37 12 78334913 78334913 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014903.4 +1 validated p.M138I 1.000 289 0% 265 47.9% 0 - possibly_damaging(0.875) deleterious(0) deleterious(0.784) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain NAV3 89795 genome.wustl.edu 37 12 78593313 78593313 + Splice_Site SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014903.4 +1 validated e36+2 1.000 146 0% 174 52.9% 0 - - - - - PPP1R12A 4659 genome.wustl.edu 37 12 80169710 80169710 + Nonstop_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001143885.1 -1 reviewed p.*1031L 0.996 377 0.5% 404 45.3% 0 - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81675166 81675166 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003625.2 -1 reviewed p.W1028R 1.000 263 0% 218 11% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain DCN 1634 genome.wustl.edu 37 12 91558406 91558406 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001920.3 -1 reviewed p.D100E 0.997 403 0% 439 37.1% 22 0% possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like NR2C1 7181 genome.wustl.edu 37 12 95453720 95453720 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003297.2 -1 reviewed p.V109G 0.527 203 0% 249 41.4% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL CDK17 5128 genome.wustl.edu 37 12 96717756 96717756 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002595.3 -1 reviewed p.M85V 1.000 196 0% 182 41.8% 1 100% benign(0.001) tolerated(0.23) neutral(0.042) NULL SLC25A3 5250 genome.wustl.edu 37 12 98989245 98989245 + Missense_Mutation SNP C C G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005888.3 +1 reviewed p.F64L 1.000 442 0% 428 41.8% 2 50% possibly_damaging(0.727) deleterious(0) deleterious(0.709) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ACACB 32 genome.wustl.edu 37 12 109702938 109702938 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001093.3 +1 reviewed p.A2322 0.053 26 0% 32 34.4% 5 20% - - - HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase OAS3 4940 genome.wustl.edu 37 12 113379377 113379377 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006187.2 +1 reviewed p.G60 1.000 109 0% 94 34% 2 50% - - - superfamily_Nucleotidyltransferase MED13L 23389 genome.wustl.edu 37 12 116403923 116403923 + Nonsense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015335.3 -1 validated p.C2117* 1.000 247 0% 224 41.5% 4 25% - - - NULL MSI1 4440 genome.wustl.edu 37 12 120785280 120785280 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002442.2 -1 reviewed p.A276 0.006 92 1.1% 67 31.3% 2 100% - - - NULL HNF1A 6927 genome.wustl.edu 37 12 121426701 121426701 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000545.5 +1 reviewed p.R131Q 1.000 151 0% 139 46% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains UBC 7316 genome.wustl.edu 37 12 125397774 125397774 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021009.4 -1 validated p.I182V 1.000 526 0% 493 34.7% 591 11.3% benign(0.003) deleterious(0) neutral(0.445) HMMPfam_ubiquitin,HMMSmart_SM00213,PatternScan_UBIQUITIN_1,superfamily_Ubiquitin-like TMEM132B 114795 genome.wustl.edu 37 12 126138438 126138438 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_052907.2 +1 provisional p.N807D 0.001 169 0% 182 42.3% 0 - benign(0) tolerated(0.93) - NULL SACS 26278 genome.wustl.edu 37 13 23929566 23929566 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000455470 -1 known p.*295Q 0.639 334 0% 366 35.8% 1 100% - - - NULL NBEA 26960 genome.wustl.edu 37 13 35672509 35672509 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015678.4 +1 validated p.K549 1.000 460 0% 415 40.2% 0 - - - - superfamily_ARM repeat SOHLH2 54937 genome.wustl.edu 37 13 36744853 36744853 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017826.2 -1 validated p.S358P 0.941 301 0% 279 46.2% 0 - possibly_damaging(0.681) deleterious(0) deleterious(0.688) NULL KBTBD7 84078 genome.wustl.edu 37 13 41768178 41768179 + Frame_Shift_Ins INS - - G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_032138.4 -1 provisional p.G73fs 0.410:0.624 - - - - - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB TDRD3 81550 genome.wustl.edu 37 13 61041458 61041458 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_030794.2 +1 validated p.T54I 1.000 284 0% 270 53% 0 - benign(0.003) tolerated(0.59) neutral(0.004) NULL PCDH9 5101 genome.wustl.edu 37 13 67802233 67802234 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_203487.2 -1 reviewed p.E113fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like KLF12 11278 genome.wustl.edu 37 13 74269789 74269789 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_007249.4 -1 validated p.C349W 1.000 117 0% 129 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CUL4A 8451 genome.wustl.edu 37 13 113909065 113909065 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001008895.1 +1 validated p.E604A 1.000 159 0% 161 40.4% 6 83.3% benign(0.015) tolerated(0.14) neutral(0.250) HMMPfam_Cullin,superfamily_Cullin homology domain TMCO3 55002 genome.wustl.edu 37 13 114164631 114164631 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017905.4 +1 validated p.L373V 0.056 348 0% 292 31.8% 3 0% possibly_damaging(0.82) tolerated(0.07) deleterious(0.629) HMMPfam_Na_H_Exchanger RPGRIP1 57096 genome.wustl.edu 37 14 21794033 21794033 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020366.3 +1 reviewed p.E804A 1.000 215 0% 194 40.7% 0 - probably_damaging(0.996) tolerated(0.41) deleterious(0.477) HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SUPT16H 11198 genome.wustl.edu 37 14 21841531 21841531 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_007192.3 -1 reviewed p.E42G 1.000 239 0% 274 17.5% 2 0% possibly_damaging(0.927) deleterious(0.04) deleterious(0.724) NULL CPNE6 9362 genome.wustl.edu 37 14 24543334 24543334 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006032.2 +1 reviewed p.T141 1.000 122 0% 110 36.4% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HEATR5A 25938 genome.wustl.edu 37 14 31813162 31813162 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015473.2 -1 validated p.Q763 1.000 166 0% 180 42.8% 0 - - - - superfamily_ARM repeat MIA2 117153 genome.wustl.edu 37 14 39722148 39722148 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_054024.3 +1 validated p.S588 0.034 288 0% 272 39.3% 0 - - - - NULL TRIM9 114088 genome.wustl.edu 37 14 51560935 51560935 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015163.5 -1 reviewed p.C241 0.997 163 0.6% 141 36.9% 0 - - - - HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain NID2 22795 genome.wustl.edu 37 14 52474605 52474605 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_007361.3 -1 validated p.L1268P 1.000 427 0% 417 38.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain C14orf37 145407 genome.wustl.edu 37 14 58563614 58563614 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001001872.2 -1 predicted p.D639 0.454 728 0.1% 803 43.3% 0 - - - - NULL DACT1 51339 genome.wustl.edu 37 14 59113586 59113586 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016651.5 +1 validated p.Y749H 1.000 165 0% 134 44.8% 2 0% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL C14orf135 64430 genome.wustl.edu 37 14 60582712 60582712 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022495.5 +1 validated p.V270 0.001 243 0% 289 46.4% 3 33.3% - - - NULL ENSG00000184902 0 genome.wustl.edu 37 14 61246821 61246821 + Missense_Mutation SNP C C G rs141195303 by1000genomes TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000331888 +1 known p.I42M 0.999 284 0% 262 46.9% 0 - - - - HMMPfam_HORMA,superfamily_The spindle assembly checkpoint protein mad2 SYNE2 23224 genome.wustl.edu 37 14 64630230 64630230 + Silent SNP C C G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_182914.2 +1 reviewed p.G5470 0.000 229 0% 169 42% 1 100% - - - NULL FAM71D 161142 genome.wustl.edu 37 14 67671518 67671518 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_173526.2 +1 validated p.V208 0.000 176 0% 166 49.4% 0 - - - - NULL KCNK13 56659 genome.wustl.edu 37 14 90650790 90650790 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022054.2 +1 reviewed p.Y224H 1.000 250 0% 209 44% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels C14orf49 161176 genome.wustl.edu 37 14 95921948 95921948 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152592.3 -1 validated p.E301D 0.989 129 0% 74 45.9% 0 - benign(0.353) tolerated(0.08) neutral(0.411) HMMSmart_SM00150,superfamily_Spectrin repeat AHNAK2 113146 genome.wustl.edu 37 14 105407368 105407368 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_138420.2 -1 validated p.E4807A 0.000 143 0% 114 38.6% 0 - possibly_damaging(0.866) tolerated(0.08) deleterious(0.635) NULL BRF1 2972 genome.wustl.edu 37 14 105766863 105766863 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001519.2 -1 reviewed p.N35I 1.000 16 0% 12 41.7% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_TFIIB_Zn_Ribbon,superfamily_Zinc beta-ribbon LOC729722 729722 genome.wustl.edu 37 15 20090271 20090271 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XM_001716538.2 +1 model p.S230 0.005 26 0% 24 25% 0 - - - - NULL FMN1 342184 genome.wustl.edu 37 15 33218447 33218447 + Missense_Mutation SNP C C A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001103184.2 -1 validated p.D829Y 1.000 137 0% 169 46.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) RYR3 6263 genome.wustl.edu 37 15 34145799 34145799 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001036.3 +1 validated p.A4572V 1.000 246 0% 243 45.3% 0 - possibly_damaging(0.896) - - NULL C15orf41 84529 genome.wustl.edu 37 15 36950044 36950044 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001130010.1 +1 validated p.A95V 1.000 371 0% 321 38.9% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL MAPKBP1 23005 genome.wustl.edu 37 15 42107465 42107465 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000512970 +1 known p.P330L 0.898 189 0% 171 39.2% 0 - benign(0.001) tolerated(0.05) neutral(0.345) NULL CASC4 113201 genome.wustl.edu 37 15 44671901 44671901 + Silent SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_138423.2 +1 reviewed p.P272 1.000 246 0% 292 36.6% 1 100% - - - NULL PATL2 197135 genome.wustl.edu 37 15 44961718 44961718 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001145112.1 -1 validated p.R307Q 0.017 152 0% 133 39.1% 0 - benign(0.005) tolerated(0.59) neutral(0.004) HMMPfam_PAT1 SLC12A1 6557 genome.wustl.edu 37 15 48500332 48500333 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000338.2 +1 reviewed p.N141fs 0.217:0.139 - - - - - - - - - HMMPfam_AA_permease_N SLC12A1 6557 genome.wustl.edu 37 15 48593518 48593518 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000338.2 +1 reviewed p.R1035C 1.000 215 0% 172 33.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FBN1 2200 genome.wustl.edu 37 15 48766457 48766458 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000138.4 -1 reviewed p.C1402fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin TRPM7 54822 genome.wustl.edu 37 15 50905936 50905936 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017672.4 -1 reviewed p.F580L 1.000 355 0% 413 45.8% 0 - probably_damaging(0.991) tolerated(0.37) neutral(0.463) NULL SLTM 79811 genome.wustl.edu 37 15 59180619 59180619 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024755.2 -1 validated p.P780 0.998 265 0% 286 44.8% 12 33.3% - - - NULL CLPX 10845 genome.wustl.edu 37 15 65471386 65471386 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006660.3 -1 provisional p.S82P 1.000 339 0% 378 40.2% 3 100% benign(0.085) tolerated(0.2) neutral(0.055) NULL DENND4A 10260 genome.wustl.edu 37 15 65998519 65998519 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001144823.1 -1 validated p.D666A 1.000 419 0% 432 44.2% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DIS3L 115752 genome.wustl.edu 37 15 66612978 66612978 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_133375.3 +1 validated p.R329C 1.000 458 0% 600 41.2% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL DIS3L 115752 genome.wustl.edu 37 15 66618334 66618334 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_133375.3 +1 validated p.K528 0.000 162 0% 183 39.9% 1 0% - - - HMMPfam_RNB ITGA11 22801 genome.wustl.edu 37 15 68641180 68641180 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001004439.1 -1 reviewed p.S373 0.216 164 0% 118 44.9% 0 - - - - superfamily_Integrin alpha N-terminal domain ARID3B 10620 genome.wustl.edu 37 15 74885486 74885486 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006465.2 +1 reviewed p.R476 0.588 95 0% 63 49.2% 0 - - - - NULL CSPG4 1464 genome.wustl.edu 37 15 75982846 75982846 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001897.4 -1 reviewed p.D187G 0.490 20 0% 10 50% 0 - benign(0.001) tolerated(0.25) neutral(0.037) superfamily_Concanavalin A-like lectins/glucanases AGBL1 123624 genome.wustl.edu 37 15 86807686 86807686 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152336.2 +1 validated p.L382 0.000 116 0% 115 45.2% 0 - - - - NULL CIB1 10519 genome.wustl.edu 37 15 90774331 90774331 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006384.3 -1 validated p.D154G 0.369 145 0% 116 44.8% 534 48.5% benign(0.014) tolerated(0.05) neutral(0.346) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand TARSL2 123283 genome.wustl.edu 37 15 102224404 102224404 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_152334.2 -1 validated p.E508 1.000 205 0% 146 40.4% 1 0% - - - HMMPfam_tRNA-synt_2b,superfamily_Class II aaRS and biotin synthetases AXIN1 8312 genome.wustl.edu 37 16 347220 347221 + Frame_Shift_Ins INS - - T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003502.2 -1 reviewed p.V598fs 0.351:0.802 - - - - - - - - - NULL CACNA1H 8912 genome.wustl.edu 37 16 1245045 1245045 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021098.2 +1 reviewed p.D125N 1.000 61 0% 38 47.4% 0 - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) superfamily_Voltage-gated potassium channels CACNA1H 8912 genome.wustl.edu 37 16 1265318 1265318 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021098.2 +1 reviewed p.A1706T 0.744 138 0% 88 27.3% 0 - possibly_damaging(0.887) tolerated(0.28) neutral(0.378) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels IFT140 9742 genome.wustl.edu 37 16 1561036 1561036 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014714.3 -1 validated p.R1433H 0.027 69 0% 61 37.7% 43 44.1% benign(0.041) tolerated(0.08) neutral(0.302) NULL KREMEN2 79412 genome.wustl.edu 37 16 3018003 3018003 + Silent SNP G G A rs192742743 by1000genomes TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_172229.1 +1 reviewed p.S457 0.147 11 0% 12 50% 13 46.1% - - - NULL HCFC1R1 54985 genome.wustl.edu 37 16 3073920 3073920 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001002018.1 -1 validated p.Q8R 0.988 54 0% 61 29.5% 185 30.2% unknown(0) deleterious(0.01) - NULL ZNF263 10127 genome.wustl.edu 37 16 3340126 3340127 + Frame_Shift_Ins INS - - GA novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005741.4 +1 validated p.R544fs 1.000:1.000 - - - - - - - - - NULL DNAJA3 9093 genome.wustl.edu 37 16 4491421 4491421 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005147.4 +1 validated p.S159P 0.826 152 0% 184 32.1% 2 0% possibly_damaging(0.84) tolerated(0.08) deleterious(0.621) superfamily_DnaJ_N KIAA0430 9665 genome.wustl.edu 37 16 15709818 15709818 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014647.3 -1 validated p.V1041A 0.994 168 0.6% 198 41.9% 2 0% benign(0.075) tolerated(0.1) neutral(0.291) NULL DNAH3 55567 genome.wustl.edu 37 16 21136660 21136660 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017539.1 -1 provisional p.S414T 0.008 126 0% 151 45.7% 0 - benign(0) tolerated(0.59) neutral(0.004) NULL GTF3C1 2975 genome.wustl.edu 37 16 27500479 27500479 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001520.3 -1 validated p.D1105G 1.000 224 0% 207 42.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RRN3P2 653390 genome.wustl.edu 37 16 29110458 29110458 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000427965 +1 known p.W375R 0.991 125 0% 176 45.5% 1 0% benign(0) tolerated(1) - HMMPfam_RRN3 LOC100133019 100133019 genome.wustl.edu 37 16 29825343 29825343 + RNA SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XR_078522.1 -1 model NULL 0.076 35 0% 33 54.5% 0 - - - - - TAOK2 9344 genome.wustl.edu 37 16 29996994 29996994 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016151.2 +1 validated p.P602S 1.000 18 0% 21 28.6% 10 20% benign(0.001) tolerated(0.09) neutral(0.296) NULL BCL7C 9274 genome.wustl.edu 37 16 30899188 30899188 + Nonstop_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004765.2 -1 reviewed p.*218R 1.000 71 0% 66 43.9% 238 26% - - - NULL ZNF646 9726 genome.wustl.edu 37 16 31089636 31089636 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014699.3 +1 validated p.R664H 0.888 72 0% 107 44.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF843 283933 genome.wustl.edu 37 16 31448156 31448156 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001136509.1 -1 provisional p.P5 0.000 83 0% 70 42.9% 0 - - - - NULL TGFB1I1 7041 genome.wustl.edu 37 16 31484827 31484827 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001042454.2 +1 reviewed p.R27C 0.882 79 0% 47 44.7% 8 25% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL NUP93 9688 genome.wustl.edu 37 16 56872881 56872881 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014669.3 +1 validated p.I679R 0.998 445 0% 455 24.2% 28 35.7% benign(0.173) tolerated(0.39) neutral(0.032) HMMPfam_Nic96 CDH5 1003 genome.wustl.edu 37 16 66436892 66436892 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001795.3 +1 reviewed p.Y725 0.967 94 0% 59 47.5% 5 40% - - - HMMPfam_Cadherin_C CCDC79 283847 genome.wustl.edu 37 16 66824832 66824832 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001136505.1 -1 provisional p.H41R 1.000 243 0% 234 51.3% 0 - probably_damaging(0.978) tolerated(0.35) neutral(0.441) superfamily_ARM repeat FAM65A 79567 genome.wustl.edu 37 16 67574095 67574095 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_024519.2 +1 validated p.R185H 0.987 68 0% 43 62.8% 1 0% possibly_damaging(0.806) tolerated(0.12) deleterious(0.564) NULL TSNAXIP1 55815 genome.wustl.edu 37 16 67859872 67859872 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018430.2 +1 validated p.L292R 0.968 91 0% 55 20% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EDC4 23644 genome.wustl.edu 37 16 67911496 67911496 + Frame_Shift_Del DEL T T - novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014329.3 +1 validated p.E243fs 0.120 - - - - - - - - - superfamily_WD40 repeat-like CDH1 999 genome.wustl.edu 37 16 68856009 68856009 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004360.3 +1 reviewed p.N606I 0.003 198 0% 136 19.1% 3 33.3% possibly_damaging(0.631) deleterious(0.03) deleterious(0.585) HMMPfam_Cadherin,superfamily_Cadherin-like GLG1 2734 genome.wustl.edu 37 16 74537504 74537504 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_012201.5 -1 validated p.L233 0.938 291 0% 216 27.8% 0 - - - - HMMPfam_Cys_rich_FGFR PLCG2 5336 genome.wustl.edu 37 16 81902887 81902887 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002661.2 +1 validated p.L183P 1.000 344 0% 243 15.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF47473 MBTPS1 8720 genome.wustl.edu 37 16 84088249 84088249 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_003791.2 -1 reviewed p.G988 0.997 40 0% 42 57.1% 39 74.3% - - - NULL LOC654780 654780 genome.wustl.edu 37 16 84228663 84228663 + RNA SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XR_040612.2 -1 model NULL 0.000 62 0% 37 56.8% 0 - - - - - ZC3H18 124245 genome.wustl.edu 37 16 88643910 88643910 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_144604.3 +1 validated p.E127* 1.000 108 0% 118 47.5% 3 33.3% - - - NULL TEKT1 83659 genome.wustl.edu 37 17 6703395 6703395 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_053285.1 -1 reviewed p.E403G 0.532 128 0% 111 41.4% 71 56.3% benign(0) tolerated(0.42) neutral(0.014) NULL DNAH9 1770 genome.wustl.edu 37 17 11556157 11556157 + Silent SNP G G C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001372.3 +1 reviewed p.V811 0.998 272 0% 245 40.8% 0 - - - - NULL DNAH9 1770 genome.wustl.edu 37 17 11787008 11787008 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001372.3 +1 reviewed p.T3638A 0.998 195 0% 188 43.6% 0 - probably_damaging(0.959) tolerated(0.63) neutral(0.406) NULL TOP3A 7156 genome.wustl.edu 37 17 18211733 18211733 + Silent SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000412083 -1 known p.Y62N 0.990 217 0% 259 37.1% 0 - - - - superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00493,HMMPfam_Toprim SLC6A4 6532 genome.wustl.edu 37 17 28539827 28539827 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001045.4 -1 reviewed p.I379V 1.000 197 0.5% 191 47.1% 0 - benign(0.115) tolerated(0.27) neutral(0.043) HMMPfam_SNF NF1 4763 genome.wustl.edu 37 17 29556148 29556148 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001042492.2 +1 reviewed p.N839D 1.000 118 0% 107 34.6% 1 0% possibly_damaging(0.723) deleterious(0.01) deleterious(0.668) NULL MYO1D 4642 genome.wustl.edu 37 17 30821866 30821866 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015194.1 -1 provisional p.T978A 1.000 122 0% 78 29.5% 2 0% benign(0.079) tolerated(0.38) neutral(0.023) HMMPfam_Myosin_TH1 LIG3 3980 genome.wustl.edu 37 17 33328409 33328409 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_013975.2 +1 reviewed p.L822P 0.996 210 0% 192 40.6% 8 62.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL NLE1 54475 genome.wustl.edu 37 17 33464889 33464889 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018096.3 -1 validated p.S161G 0.992 70 0% 52 30.8% 1 0% possibly_damaging(0.736) tolerated(0.08) deleterious(0.569) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MYO19 80179 genome.wustl.edu 37 17 34854144 34854144 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_025109.5 -1 validated p.Q708R 0.870 71 0% 85 45.9% 18 50% benign(0.027) tolerated(0.07) neutral(0.321) NULL ERBB2 2064 genome.wustl.edu 37 17 37879658 37879658 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004448.2 +1 reviewed p.R678Q 1.000 193 0.5% 159 41.5% 7 28.5% possibly_damaging(0.599) tolerated(0.3) neutral(0.236) NULL KRTAP9-8 83901 genome.wustl.edu 37 17 39394631 39394632 + Frame_Shift_Ins INS - - TTGT novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_031963.2 +1 reviewed p.T110fs 0.001:0.001 - - - - - - - - - HMMPfam_Keratin_B2 BRCA1 672 genome.wustl.edu 37 17 41244451 41244451 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_007294.3 -1 reviewed p.E1033K 0.008 265 0% 242 35.5% 0 - possibly_damaging(0.915) deleterious(0.04) deleterious(0.716) NULL KANSL1 284058 genome.wustl.edu 37 17 44144915 44144915 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015443.2 -1 validated p.T551I 1.000 159 0% 166 43.4% 0 - benign(0.055) tolerated(0.15) neutral(0.244) NULL MYL4 4635 genome.wustl.edu 37 17 45286872 45286872 + Silent SNP C C A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001002841.1 +1 reviewed p.A28 0.650 177 0% 154 38.3% 0 - - - - NULL ATP5G1 516 genome.wustl.edu 37 17 46973123 46973123 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001002027.1 +1 reviewed p.A135T 1.000 274 0% 269 41.3% 275 50.9% benign(0.003) tolerated(0.1) neutral(0.286) HMMPfam_ATP-synt_C,superfamily_F1F0 ATP synthase subunit C COL1A1 1277 genome.wustl.edu 37 17 48268263 48268263 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000088.3 -1 reviewed p.A753V 1.000 157 0% 142 47.2% 56 1.7% benign(0.197) tolerated(0.27) neutral(0.052) HMMPfam_Collagen ACE 1636 genome.wustl.edu 37 17 61555395 61555395 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000789.2 +1 reviewed p.R118H 0.104 41 0% 24 75% 1 0% possibly_damaging(0.714) deleterious(0) deleterious(0.703) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" CACNG5 27091 genome.wustl.edu 37 17 64881335 64881335 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_145811.1 +1 reviewed p.Q269R 1.000 68 0% 34 41.2% 0 - benign(0.01) tolerated(0.27) neutral(0.034) NULL C17orf70 80233 genome.wustl.edu 37 17 79512848 79512848 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_025161.5 -1 validated p.V594A 0.000 36 0% 30 43.3% 38 47.3% benign(0.01) tolerated(0.14) neutral(0.250) NULL RAB31 11031 genome.wustl.edu 37 18 9775298 9775298 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006868.3 +1 validated p.S21 1.000 388 0% 409 20.5% 1 0% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RAB31 11031 genome.wustl.edu 37 18 9859241 9859242 + Frame_Shift_Ins INS - - T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006868.3 +1 validated p.L169fs 1.000:0.999 - - - - - - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TXNDC2 84203 genome.wustl.edu 37 18 9887621 9887621 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001098529.1 +1 validated p.I382T 0.000 505 0% 539 40.6% 0 - benign(0.195) tolerated(0.29) neutral(0.048) NULL ZNF521 25925 genome.wustl.edu 37 18 22642696 22642696 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015461.2 -1 validated p.M1306L 1.000 142 0% 125 32% 2 0% benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAPRE2 10982 genome.wustl.edu 37 18 32706967 32706967 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014268.2 +1 reviewed p.S222 0.128 217 0% 227 38.3% 0 - - - - NULL SNORD58B 26790 genome.wustl.edu 37 18 47018096 47018096 + RNA SNP G G C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NR_002572.1 -1 provisional NULL 1.000 20 0% 15 33.3% 12 25% - - - - CXXC1 30827 genome.wustl.edu 37 18 47809057 47809057 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001101654.1 -1 validated p.M630T 1.000 129 0% 103 50.5% 122 36.8% possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) NULL ONECUT2 9480 genome.wustl.edu 37 18 55103476 55103477 + In_Frame_Ins INS - - CAC novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004852.2 +1 reviewed p.180in_frame_insH 0.715:1.000 - - - - - - - - - NULL FECH 2235 genome.wustl.edu 37 18 55240568 55240568 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001012515.2 -1 reviewed p.N81S 1.000 361 0% 337 41.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ferrochelatase,superfamily_Chelatase ALPK2 115701 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_052947.3 -1 validated p.K523fs 0.000 - - - - - - - - - NULL ZCCHC2 54877 genome.wustl.edu 37 18 60242739 60242739 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017742.4 +1 validated p.Y1142F 1.000 216 0% 233 43.8% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_zf-CCHC,HMMSmart_ZnF_C2HC CCDC102B 79839 genome.wustl.edu 37 18 66504141 66504141 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001093729.1 +1 validated p.H47 0.000 128 0% 136 35.3% 0 - - - - NULL CCDC102B 79839 genome.wustl.edu 37 18 66542023 66542023 + Splice_Site SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001093729.1 +1 validated e4+1 1.000 198 0.5% 219 40.6% 0 - - - - - RTTN 25914 genome.wustl.edu 37 18 67727215 67727215 + Missense_Mutation SNP T T A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_173630.3 -1 validated p.K1604I 0.001 488 0% 577 41.6% 0 - possibly_damaging(0.843) tolerated(0.12) deleterious(0.584) NULL ZNF236 7776 genome.wustl.edu 37 18 74563832 74563832 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_007345.3 +1 validated p.C98 1.000 330 0% 376 48.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SBNO2 22904 genome.wustl.edu 37 19 1149436 1149436 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014963.2 -1 validated p.A33 0.069 176 0% 201 46.8% 1 0% - - - NULL AES 166 genome.wustl.edu 37 19 3053823 3053823 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_198969.1 -1 reviewed p.S263 0.631 36 0% 20 45% 131 37.4% - - - NULL MATK 4145 genome.wustl.edu 37 19 3784364 3784364 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002378.3 -1 reviewed p.D74G 1.000 76 0% 50 18% 2 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 PLIN4 729359 genome.wustl.edu 37 19 4510506 4510506 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001080400.1 -1 provisional p.L1142 0.000 160 0% 122 37.7% 0 - - - - NULL LONP1 9361 genome.wustl.edu 37 19 5699104 5699104 + Missense_Mutation SNP A A C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004793.2 -1 reviewed p.L540R 1.000 30 0% 23 52.2% 21 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 CLPP 8192 genome.wustl.edu 37 19 6364614 6364614 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_006012.2 +1 reviewed p.S173 1.000 26 0% 37 32.4% 84 48.8% - - - HMMPfam_CLP_protease,PatternScan_CLP_PROTEASE_HIS,superfamily_SSF52096 INSR 3643 genome.wustl.edu 37 19 7122984 7122984 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000208.2 -1 reviewed p.V1092A 1.000 67 0% 44 45.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) DNM2 1785 genome.wustl.edu 37 19 10904494 10904494 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001005360.1 +1 reviewed p.R364H 1.000 141 0% 148 16.9% 4 0% benign(0.133) tolerated(0.07) neutral(0.330) HMMPfam_Dynamin_M LPHN1 22859 genome.wustl.edu 37 19 14263697 14263697 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001008701.2 -1 reviewed p.R1113C 1.000 178 0% 208 37.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NOTCH3 4854 genome.wustl.edu 37 19 15278105 15278105 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000435.2 -1 reviewed p.G1773S 1.000 107 0% 117 24.8% 6 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL NOTCH3 4854 genome.wustl.edu 37 19 15302845 15302845 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000435.2 -1 reviewed p.A202V 0.999 46 0% 26 42.3% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin LOC100287986 100287986 genome.wustl.edu 37 19 15695457 15695457 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XM_002343618.1 -1 model p.V458M 0.000 47 0% 31 35.5% 0 - - - - NULL SLC27A1 376497 genome.wustl.edu 37 19 17612103 17612103 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_198580.1 +1 provisional p.M553T 1.000 37 0% 29 41.4% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56801 FCHO1 23149 genome.wustl.edu 37 19 17894916 17894916 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_015122.2 +1 validated p.P700S 1.000 47 0% 38 26.3% 3 0% probably_damaging(1) tolerated(0.38) deleterious(0.517) NULL ZNF93 81931 genome.wustl.edu 37 19 20044399 20044399 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_031218.3 +1 validated p.Y212C 0.000 114 0% 95 30.5% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310141 24310141 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_203282.2 +1 validated p.S447P 0.001 168 0% 161 35.4% 4 0% unknown(0) deleterious(0.02) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MLL4 9757 genome.wustl.edu 37 19 36210860 36210860 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014727.1 +1 reviewed p.Q204R 0.321 28 0% 30 50% 0 - unknown(0) - - NULL C19orf55 148137 genome.wustl.edu 37 19 36258920 36258920 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001039887.1 +1 predicted p.S391 0.000 24 0% 14 57.1% 0 - - - - NULL CATSPERG 57828 genome.wustl.edu 37 19 38861408 38861408 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021185.4 +1 validated p.A1152 0.000 111 0% 109 49.5% 2 50% - - - NULL RYR1 6261 genome.wustl.edu 37 19 39003092 39003092 + Silent SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000540.2 +1 reviewed p.I3147 0.999 28 0% 18 33.3% 0 - - - - NULL SAMD4B 55095 genome.wustl.edu 37 19 39860602 39860602 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018028.2 +1 provisional p.S168 0.722 29 0% 24 33.3% 3 66.6% - - - NULL ENSG00000229113 0 genome.wustl.edu 37 19 42028226 42028226 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000439847 -1 known p.G42 1.000 171 0% 217 41.5% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like GSK3A 2931 genome.wustl.edu 37 19 42736801 42736801 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_019884.2 -1 validated p.A378T 0.991 143 0% 122 39.3% 54 35.1% benign(0.005) deleterious(0.02) neutral(0.383) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PSG4 5672 genome.wustl.edu 37 19 43698612 43698612 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002780.3 -1 validated p.S375P 0.000 677 0% 655 41.8% 0 - benign(0.002) tolerated(0.17) neutral(0.059) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG4 5672 genome.wustl.edu 37 19 43698748 43698748 + Splice_Site SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002780.3 -1 validated e5-2 0.872 314 0% 253 21.3% 0 - - - - - SIX5 147912 genome.wustl.edu 37 19 46268939 46268939 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_175875.4 -1 reviewed p.E680 0.000 36 0% 26 42.3% 11 63.6% - - - NULL PTGIR 5739 genome.wustl.edu 37 19 47126947 47126947 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000960.3 -1 reviewed p.P179L 0.002 7 0.000 11 0.636 0 - benign(0.004) tolerated(0.3) neutral(0.029) HMMPfam_7tm_1,superfamily_SSF81321 LOC100287338 100287338 genome.wustl.edu 37 19 47844629 47844629 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XM_002343689.1 -1 model p.A125T 0.003 74 0% 86 53.5% 1 100% - - - NULL SIGLEC16 400709 genome.wustl.edu 37 19 50475113 50475113 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000417280 +1 known p.L373P 0.000 92 0% 57 45.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Immunoglobulin PPP2R1A 5518 genome.wustl.edu 37 19 52705239 52705239 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000391791 +1 known p.W19* 1.000 222 0% 153 43.1% 17 41.1% - - - NULL LOC388559 388559 genome.wustl.edu 37 19 53418469 53418469 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XM_496322.5 -1 model p.Y41C 0.000 519 0% 493 46.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF765 91661 genome.wustl.edu 37 19 53905409 53905409 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001040185.1 +1 provisional p.V36G 0.866 610 0.2% 639 36.8% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF71 58491 genome.wustl.edu 37 19 57133420 57133420 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021216.4 +1 validated p.M255I 0.035 71 0% 47 48.9% 3 33.3% possibly_damaging(0.906) tolerated(0.06) deleterious(0.682) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF587 84914 genome.wustl.edu 37 19 58353468 58353470 + In_Frame_Del DEL AAG AAG - novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XM_002343662.1 +1 model p.K422in_frame_del 0.015:0.000:0.000 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC23A2 9962 genome.wustl.edu 37 20 4837809 4837809 + Missense_Mutation SNP C C A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005116.5 -1 reviewed p.V588L 0.109 472 0% 442 36.4% 2 100% benign(0.025) tolerated(0.73) neutral(0.003) NULL GZF1 64412 genome.wustl.edu 37 20 23345920 23345921 + In_Frame_Ins INS - - GAG novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022482.3 +1 validated p.304in_frame_insE 0.000:0.114 - - - - - - - - - NULL PYGB 5834 genome.wustl.edu 37 20 25261707 25261707 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002862.3 +1 reviewed p.N454 0.405 383 0% 335 18.5% 2 0% - - - HMMPfam_Phosphorylase,superfamily_SSF53756 KIAA1755 85449 genome.wustl.edu 37 20 36842018 36842018 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001029864.1 -1 predicted p.P1010H 0.880 41 2.4% 30 53.3% 3 0% possibly_damaging(0.942) deleterious(0.02) deleterious(0.770) NULL KCNK15 60598 genome.wustl.edu 37 20 43379195 43379195 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022358.2 +1 reviewed p.A237T 1.000 100 0% 61 26.2% 9 55.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ion_trans_2,superfamily_SSF81324 ACOT8 10005 genome.wustl.edu 37 20 44472335 44472335 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005469.2 -1 reviewed p.C224 1.000 37 0% 31 45.2% 44 56.8% - - - HMMPfam_Acyl_CoA_thio,superfamily_SSF54637 APCDD1L 164284 genome.wustl.edu 37 20 57036237 57036237 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_153360.1 -1 provisional p.N372S 1.000 30 0% 42 50% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL SS18L1 26039 genome.wustl.edu 37 20 60747852 60747852 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_198935.1 +1 validated p.G344D 1.000 72 0% 43 41.9% 0 - unknown(0) deleterious(0) - NULL LAMA5 3911 genome.wustl.edu 37 20 60885328 60885328 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_005560.3 -1 reviewed p.L3547P 1.000 29 0% 38 13.2% 142 31.6% benign(0.007) - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases GATA5 140628 genome.wustl.edu 37 20 61048636 61048636 + Splice_Site SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_080473.4 -1 reviewed e2-2 0.954 45 0% 33 48.5% 2 50% - - - - USP25 29761 genome.wustl.edu 37 21 17202852 17202852 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_013396.3 +1 validated p.L566 1.000 224 0% 174 42% 1 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases GRIK1 2897 genome.wustl.edu 37 21 31015204 31015204 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000830.3 -1 reviewed p.Q347R 1.000 130 0% 114 38.6% 0 - probably_damaging(0.975) tolerated(0.14) deleterious(0.666) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I MIS18A 54069 genome.wustl.edu 37 21 33642087 33642087 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018944.2 -1 validated p.Q184 0.687 154 0% 178 37.1% 5 40% - - - NULL SON 6651 genome.wustl.edu 37 21 34923245 34923245 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_138927.1 +1 reviewed p.P570S 1.000 75 1.3% 60 26.7% 0 - possibly_damaging(0.82) deleterious(0.05) deleterious(0.656) NULL SON 6651 genome.wustl.edu 37 21 34926070 34926070 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000436227 +1 known p.K506R 0.909 138 0% 155 43.9% 2 0% - - - NULL BRWD1 54014 genome.wustl.edu 37 21 40652167 40652167 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018963.3 -1 reviewed p.P280L 1.000 118 0% 154 39% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 PDXK 8566 genome.wustl.edu 37 21 45161452 45161452 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000467908 +1 known p.P7 0.000 72 0% 51 35.3% 0 - - - - superfamily_SSF53613 DGCR8 54487 genome.wustl.edu 37 22 20079036 20079036 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_022720.5 +1 validated p.A462V 1.000 266 0% 237 40.1% 2 50% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL SNAP29 9342 genome.wustl.edu 37 22 21242012 21242012 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004782.3 +1 reviewed p.G222V 0.999 162 0% 273 49.5% 60 41.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SNARE,HMMSmart_t_SNARE SMTN 6525 genome.wustl.edu 37 22 31484062 31484062 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_134270.1 +1 reviewed p.R55C 1.000 42 0% 42 45.2% 7 28.5% unknown(0) deleterious(0) - NULL TEX33 339669 genome.wustl.edu 37 22 37387598 37387598 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000442538 -1 known p.F82L 1.000 311 0% 289 40.8% 0 - - - - NULL MKL1 57591 genome.wustl.edu 37 22 40816954 40816954 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020831.3 -1 validated p.A260T 1.000 286 0% 237 44.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL EP300 2033 genome.wustl.edu 37 22 41566475 41566475 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001429.3 +1 reviewed p.H1451R 1.000 245 0% 260 40% 0 - unknown(0) deleterious(0) - HMMPfam_DUF906 SELO 83642 genome.wustl.edu 37 22 50647059 50647059 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_031454.1 +1 reviewed p.D285N 0.996 103 1% 110 33.6% 28 50% possibly_damaging(0.799) tolerated(0.09) deleterious(0.597) HMMPfam_UPF0061 PHEX 5251 genome.wustl.edu 37 X 22186489 22186489 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000444.4 +1 reviewed p.N489D 1.000 390 0% 426 43.7% 0 - benign(0.094) tolerated(0.68) neutral(0.009) superfamily_SSF55486 DCAF8L2 347442 genome.wustl.edu 37 X 27765998 27765998 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001136533.1 +1 provisional p.D329G 1.000 236 0% 216 40.3% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like KDM6A 7403 genome.wustl.edu 37 X 44949116 44949117 + Frame_Shift_Ins INS - - T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021140.2 +1 reviewed p.W1227fs 1.000:0.998 - - - - - - - - - HMMSmart_JmjC,HMMPfam_JmjC USP11 8237 genome.wustl.edu 37 X 47107324 47107324 + Missense_Mutation SNP A A T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_004651.3 +1 reviewed p.N963Y 0.203 30 0% 27 37% 149 30.8% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL GSPT2 23708 genome.wustl.edu 37 X 51486911 51486911 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_018094.4 +1 reviewed p.V63 0.984 64 0% 43 48.8% 3 0% - - - HMMPfam_PAM2 IQSEC2 23096 genome.wustl.edu 37 X 53264971 53264971 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001111125.1 -1 validated p.T1165 1.000 100 0% 83 36.1% 0 - - - - NULL HUWE1 10075 genome.wustl.edu 37 X 53565906 53565906 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_031407.4 -1 reviewed p.L3923S 1.000 236 0% 248 35.9% 14 0% unknown(0) tolerated(0.74) - NULL PHF8 23133 genome.wustl.edu 37 X 54043099 54043099 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000396282 -1 known p.L79S 1.000 388 0% 364 47% 0 - - - - superfamily_Clavaminate synthase-like ITIH6 347365 genome.wustl.edu 37 X 54776374 54776374 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_198510.2 -1 reviewed p.H1299R 0.999 42 0% 34 41.2% 0 - possibly_damaging(0.819) deleterious(0.04) deleterious(0.658) NULL APEX2 27301 genome.wustl.edu 37 X 55032975 55032975 + Missense_Mutation SNP C C T rs187479006 by1000genomes TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014481.2 +1 reviewed p.R222C 0.978 87 0% 93 45.2% 11 0% probably_damaging(0.971) tolerated(0.09) deleterious(0.710) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos RRAGB 10325 genome.wustl.edu 37 X 55784683 55784683 + Silent SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_016656.3 +1 validated p.S344 0.948 297 0% 255 45.5% 4 75% - - - HMMPfam_Gtr1_RagA ZC3H12B 340554 genome.wustl.edu 37 X 64722184 64722184 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001010888.3 +1 reviewed p.K525E 1.000 147 0% 125 48.8% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL IGBP1 3476 genome.wustl.edu 37 X 69368674 69368674 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001551.2 +1 reviewed p.N248D 0.686 244 0% 214 39.7% 62 1.6% benign(0) tolerated(1) - HMMPfam_TAP42 TEX11 56159 genome.wustl.edu 37 X 70127618 70127618 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_031276.2 -1 reviewed p.S8P 0.008 314 0.3% 313 40.6% 0 - benign(0.278) tolerated(0.33) neutral(0.054) NULL ATRX 546 genome.wustl.edu 37 X 76778768 76778768 + Missense_Mutation SNP T T C rs122445112 TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000489.3 -1 reviewed p.R2271G 1.000 487 0% 524 44.8% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZNF711 7552 genome.wustl.edu 37 X 84525987 84525987 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_021998.4 +1 reviewed p.Y480C 1.000 266 0% 275 39.6% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_zf-C2H2,HMMSmart_SM00355 BTK 695 genome.wustl.edu 37 X 100612524 100612524 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000061.2 -1 reviewed p.A384T 1.000 465 0% 578 46.2% 1 0% benign(0.176) tolerated(0.28) neutral(0.048) NULL PSMD10 5716 genome.wustl.edu 37 X 107331186 107331186 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_002814.2 -1 reviewed p.H119 1.000 430 0% 458 40.6% 8 87.5% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ENSG00000189372 0 genome.wustl.edu 37 X 107627124 107627124 + Silent SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 ENST00000453808 +1 known p.E126 0.241 108 0% 84 45.2% 0 - possibly_damaging(0.834) tolerated(0.14) deleterious(0.568) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) RGAG1 57529 genome.wustl.edu 37 X 109693979 109693979 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_020769.2 +1 validated p.H45R 0.000 315 0% 222 41.4% 0 - benign(0.186) tolerated(0.12) neutral(0.278) NULL CAPN6 827 genome.wustl.edu 37 X 110495673 110495673 + Silent SNP C C A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_014289.3 -1 reviewed p.V187 1.000 264 0% 241 36.9% 0 - - - - HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 DCX 1641 genome.wustl.edu 37 X 110555889 110555889 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_000555.2 -1 reviewed p.G417D 1.000 405 0% 403 45.7% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL LOC286528 286528 genome.wustl.edu 37 X 113625270 113625270 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 XM_210501.3 +1 model p.A48 0.855 71 0% 51 43.1% 0 - - - - HMMPfam_Ssu72 DOCK11 139818 genome.wustl.edu 37 X 117782939 117782939 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_144658.3 +1 validated p.N1477S 0.756 341 0% 327 39.1% 1 0% benign(0) tolerated(0.41) neutral(0.015) NULL UPF3B 65109 genome.wustl.edu 37 X 118972448 118972448 + Missense_Mutation SNP T T G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_080632.1 -1 reviewed p.K297Q 1.000 671 0.1% 772 41.2% 8 0% possibly_damaging(0.952) tolerated(0.18) neutral(0.452) NULL DCAF12L2 340578 genome.wustl.edu 37 X 125298970 125298970 + Missense_Mutation SNP G G T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001013628.2 -1 reviewed p.T313N 1.000 48 0% 24 54.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_WD40_like ARHGAP36 158763 genome.wustl.edu 37 X 130220306 130220306 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_144967.3 +1 validated p.P429S 1.000 232 0% 189 49.2% 0 - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL PNMA3 29944 genome.wustl.edu 37 X 152226341 152226341 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_013364.4 +1 reviewed p.K310R 0.000 149 0% 159 39% 1 0% benign(0) tolerated(0.87) neutral(0.001) NULL PNMA3 29944 genome.wustl.edu 37 X 152226517 152226517 + Missense_Mutation SNP C C A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_013364.4 +1 reviewed p.P369T 0.028 60 0% 49 40.8% 0 - probably_damaging(0.988) tolerated(0.44) neutral(0.450) NULL HAUS7 55559 genome.wustl.edu 37 X 152721992 152721992 + Silent SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_017518.6 -1 reviewed p.D198 0.146 138 0% 87 48.3% 27 44.4% - - - NULL ATP2B3 492 genome.wustl.edu 37 X 152821672 152821672 + Missense_Mutation SNP A A G novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001001344.2 +1 reviewed p.N742D 0.996 65 0% 67 53.7% 0 - benign(0.009) tolerated(1) neutral(0.001) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M IRAK1 3654 genome.wustl.edu 37 X 153278087 153278087 + Missense_Mutation SNP G G A novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001569.3 -1 reviewed p.P658L 0.042 101 0% 103 49.5% 13 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FLNA 2316 genome.wustl.edu 37 X 153581812 153581812 + Missense_Mutation SNP C C T novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001110556.1 -1 reviewed p.M1958I 1.000 97 0% 60 56.7% 16 0% benign(0) tolerated(0.47) neutral(0.011) HMMSmart_SM00557 FLNA 2316 genome.wustl.edu 37 X 153583212 153583212 + Missense_Mutation SNP T T C novel TCGA-B5-A11G-01A-13D-A122-09 TCGA-B5-A11G-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 42de1441-6f3c-4b4d-b8b8-ad91e4b1dbe2 bac2cf85-be6d-4d68-91bf-83daab5ea3a6 NM_001110556.1 -1 reviewed p.N1733S 1.000 84 0% 67 16.4% 8 0% possibly_damaging(0.895) deleterious(0.02) deleterious(0.736) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin